case study of a child with developmental delay

An official website of the United States government

The .gov means it’s official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

• Publications
• Account settings

Preview improvements coming to the PMC website in October 2024. Learn More or Try it out now .

• Advanced Search
• Journal List
• Paediatr Child Health
• v.13(9); 2008 Nov

Case 2: Developmental delay, especially language, in a toddler

An 18-month-old girl was first referred at eight months of age to a developmental centre because of general developmental delay. She was born after a normal pregnancy and delivery. Her birth weight was 3.7 kg, with Apgar scores of 9 and 10 at 1 min and 5 min, respectively. The neonatal period was uneventful. Her parents are non-consanguineous and have two older healthy sons. There are no known individuals with developmental delay or mental retardation in the enlarged families of both parents.

Beginning at four months of age, the infant suffered recurrent episodes of otitis media, and was hospitalized twice with pneumonia and purulent otitis media. A hearing test performed at seven months of age revealed profound hearing loss mainly in her right ear (70 dB), and a brainstem auditory evoked response test confirmed the hearing loss; ventilatory tubes were inserted. Her physical examination when she was first seen in the developmental centre was normal, with no dysmorphic features or abnormal neurological signs. Repeated developmental examinations and follow-up at 18 months of age confirmed a general developmental delay corresponding to motor developmental skills of a 12-month level and language skills at a nine-month level. The neurological examination showed mild hypotonia. Laboratory tests including a complete blood count, chemistry, thyroid function and urinalysis were normal. Toxoplasma, rubella, cytomegalovirus and herpes simplex virus titres were negative. Metabolic work-up including lactate, ammonia, amino acids and biotinidase in the blood, and organic and amino acids in the urine were normal. At this point, a blood test was ordered, which confirmed the suspected diagnosis.

CASE 2 DIAGNOSIS: FEMALE FRAGILE X SYNDROME

The developmental delay and recurrent episodes of otitis media, with hearing loss that persisted after the ventilatory tubes were inserted, led us to think of a syndromic cause for the patient’s symptoms. Chromosomal analysis revealed a normal female 46,XX karyotype, and molecular studies found a full mutation in the FMR1 gene (more than 200 copies of the CGG trinucleotide repeat sequence at the fragile X locus on the X chromosome), thus establishing the diagnosis of fragile X syndrome (FXS).

In 1991, the gene for FXS, designated FMR1 , which codes for the fragile X MR protein (FMRP) was discovered. The lack of FMRP production causes the syndrome. The DNA sequence at the FMR1 gene is a CGG trinucleotide repeat sequence. Normal individuals have between six and 55 CGG repeats, and carriers of the ‘premutation’ have 56 to 199 repeats, in which FMRP production still occurs. Those who have 200 CGG repeats or more have the ‘full mutation’, and in this situation, the DNA nucleotides are methylated, resulting in the absence of the FMRP. Forty per cent of patients with the full mutation are mosaics with cells containing variable length of full or premutation alleles.

FXS is the most common inherited cause of intellectual disability affecting males and females, with a prevalence of 1:3500 to 1:4000 in males, and 1:8000 to 1:9000 in females who show the full mutation. The overall prevalence may be as high as 1:2000 to 1:3000 because many prevalence studies have not screened children with milder cognitive deficits. The syndrome is characterized by certain physical features and impaired cognition, with language and behavioural problems. Approximately 80% of males have a dysmorphic appearance in contrast with most females who are not dysmorphic. Physical features may not be apparent at an early age. The characteristic facies are usually apparent by eight to 10 years of age, and may consist of macrocephaly, long face, prominent forehead, epicanthal folds, prognathism, dental crowding and large protruding ears. Entering puberty at approximately nine years of age, macroorchidism may become evident, increasing until a mean testicular volume of 50 mL in adulthood. Other features that may be seen in FXS include strabismus, mitral valve prolapse, high arched palate, soft velvety skin over the dorsum of the hands, hyperextensible joints, flat feet, scoliosis and simian creases of the palms. Recurrent otitis media (in 60% to 80% of individuals) and sinusitis (in 23% of individuals) are common in infancy and childhood.

Neurological abnormalities such as seizures (25%), hypotonia and motor dyspraxia may occur. The seizures appear mainly in boys. Partial seizures have been described in two girls who are fragile X carriers. In girls with the pre-mutation, the typical physical characteristics are more subtle, and they may exhibit premature ovarian insufficiency later in life. Approximately 30% of males who carry a pre-mutation allele will develop fragile X-associated tremor and ataxia syndrome after 50 years of age. Cognitive function in boys is more severely impaired, and most of them have moderate to severe intellectual disability with an average IQ of 30, whereas girls are borderline to mild, and 35% to 50% of those with the full mutation may have IQ scores of less than 85. With regard to language skills, boys may show greater delays in gaining expressive language skills compared with receptive language. Their speech may be rapid; dysfluent; characterized by repetitions of sounds, words and phrases; and they occasionally may have garbled, slurred and disorganized speech. Language impairment is also noted in affected girls.

Behavioural problems in boys are manifested by social avoidance, and deficits in attention and hyperactivity. Nearly 25% of boys meet the criteria for autism. Girls express social anxiety, social avoidance, withdrawal and depression. Shyness and social discomfort appear more in those with the premutation. Selective mutism has also been described in girls with the full mutation. Girls express more attentional difficulties, without the hyperactivity and impulsivity of attention-deficit hyperactivity disorder. Autistic behaviours may be reported in girls by six to 16 years of age, but unlike boys with the syndrome, they are usually not severly affected.

There are still reports in the literature of delayed diagnosis of the syndrome because of nonspecific features, unremarkable physical examination, noncontributory family history and delayed molecular testing. The case presented is one of the earliest ages of diagnosis in a female described in the literature.

There is no specific treatment for the syndrome. However, affected children do benefit from early developmental treatments in physical, speech and occupational therapy. More specific therapy includes psychopharmacological treatments for those with attention-deficit hyperactivity disorder symptoms; selective serotonin reuptake inhibitors for those with anxiety, perseveration, compulsive and depressive symptoms; and risperidone for aggressive behaviours.

CLINICAL PEARLS

• Consider FXS in any child, boy or girl, with a delay in language, social anxiety, hyperactivity or hand flapping.
• Girls generally have a milder presentation than boys because they have two X chromosomes and the normal X produces variable amounts of FMRP, depending on the amount of X inactivation. The level of FMRP correlates with the degree of cognitive involvement in both males and females.
• Early diagnosis is important for genetic counselling, particularly in young couples, and it is also useful for early intervention for those children who have special educational and psychosocial needs.
• In girls presenting with partial seizures of unknown cause, consider the possibility that they may be fragile X carriers.

RECOMMENDED READING

Disclaimer » Advertising

• HealthyChildren.org

• Previous Article
• Next Article

Intellectual Disability

Global developmental delay, highlights in this clinical report, chromosome microarray, screening for inborn errors of metabolism, genetic testing for mendelian disorders, male gender, genetic testing for nonspecific xlid, boys with suspected or known xlid, female gender and mecp2 testing, advances in diagnostic imaging, recommended approach, the shared evaluation and care plan for limited access, emerging technologies, conclusions, lead authors, american academy of pediatrics committee on genetics, 2013–2014, past committee members, contributor, comprehensive evaluation of the child with intellectual disability or global developmental delays.

• Split-Screen
• Article contents
• Figures & tables
• Supplementary Data
• Peer Review
• CME Quiz Close Quiz
• Open the PDF for in another window
• Get Permissions
• Cite Icon Cite
• Search Site

John B. Moeschler , Michael Shevell , COMMITTEE ON GENETICS , John B. Moeschler , Michael Shevell , Robert A. Saul , Emily Chen , Debra L. Freedenberg , Rizwan Hamid , Marilyn C. Jones , Joan M. Stoler , Beth Anne Tarini; Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays. Pediatrics September 2014; 134 (3): e903–e918. 10.1542/peds.2014-1839

Download citation file:

• Ris (Zotero)
• Reference Manager

Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.

The purpose of this clinical report of the American Academy of Pediatrics (AAP) is to describe an optimal medical genetics evaluation of the child with intellectual disability (ID) or global developmental delays (GDDs). The intention is to assist the medical home in preparing families properly for the medical genetics evaluation process. This report addresses the advances in diagnosis and treatment of children with intellectual disabilities since the publication of the original AAP clinical report in 2006 1 and provides current guidance for the medical genetics evaluation. One intention is to inform primary care providers in the setting of the medical home so that they and families are knowledgeable about the purpose and process of the genetics evaluation. This report will emphasize advances in genetic diagnosis while updating information regarding the appropriate evaluation for inborn errors of metabolism and the role of imaging in this context. The reader is referred to the 2006 clinical report for background information that remains relevant, including the roles of the medical home or pediatric primary care provider.

This clinical report will not address the importance of developmental screening in the medical home, nor will it address the diagnostic evaluation of the child with an autism spectrum disorder who happens to have ID as a co-occurring disability. (For AAP guidance related to Autism Spectrum Disorders, see Johnson and Myers. 2 )

For both pediatric primary care providers and families, there are specific benefits to establishing an etiologic diagnosis ( Table 1 ): clarification of etiology; provision of prognosis or expected clinical course; discussion of genetic mechanism(s) and recurrence risks; refined treatment options; the avoidance of unnecessary and redundant diagnostic tests; information regarding treatment, symptom management, or surveillance for known complications; provision of condition-specific family support; access to research treatment protocols; and the opportunity for comanagement of patients, as appropriate, in the context of a medical home to ensure the best health, social, and health care services satisfaction outcomes for the child and family. The presence of an accurate etiologic diagnosis along with a knowledgeable, experienced, expert clinician is one factor in improving the psychosocial outcomes for children and with intellectual disabilities and their families. 3 , – 5 Although perhaps difficult to measure, this “healing touch” contributes to the general well-being of the family. “As physicians we have experience with other children who have the same disorder, access to management programs, knowledge of the prognosis, awareness of research on understanding the disease and many other elements that when shared with the parents will give them a feeling that some control is possible.” 5  

The Purposes of the Comprehensive Medical Genetics Evaluation of the Young Child With GDD or ID

Makela et al 6 studied, in depth, 20 families of children with ID with and without an etiologic diagnosis and found that these families had specific stated needs and feelings about what a genetic diagnosis offers:

Validation: a diagnosis established that the problem (ID) was credible, which empowered them to advocate for their child.

Information: a diagnosis was felt to help guide expectations and management immediately and provide hope for treatment or cure in future.

Procuring services: the diagnosis assisted families in obtaining desired services, particularly in schools.

Support: families expressed the need for emotional companionship that a specific diagnosis (or “similar challenges”) assisted in accessing.

Need to know: families widely differed in their “need to know” a specific diagnosis, ranging from strong to indifferent.

Prenatal testing: families varied in their emotions, thoughts, and actions regarding prenatal genetic diagnosis.

For some families in the Makela et al 6 study, the clinical diagnosis of autism, for example, was sufficient and often more useful than “a rare but specific etiological diagnosis.” These authors report that “all of the families would have preferred to have an [etiologic] diagnosis, if given the option,” particularly early in the course of the symptoms.

As was true of the 2006 clinical report, this clinical report will not address the etiologic evaluation of young children who are diagnosed with cerebral palsy, autism, or a single-domain developmental delay (gross motor delay or specific language impairment). 1 Some children will present both with GDD and clinical features of autism. In such cases, the judgment of the clinical geneticist will be important in determining the evaluation of the child depending on the primary neurodevelopmental diagnosis. It is recognized that the determination that an infant or young child has a cognitive disability can be a matter of clinical judgment, and it is important for the pediatrician and consulting clinical geneticist to discuss this before deciding on the best approach to the diagnostic evaluation.” 1  

ID is a developmental disability presenting in infancy or the early childhood years, although in some cases, it cannot be diagnosed until the child is older than ∼5 years of age, when standardized measures of developmental skills become more reliable and valid. The American Association on Intellectual and Developmental Disability defines ID by using measures of 3 domains: intelligence (IQ), adaptive behavior, and systems of supports afforded the individual. 7 Thus, one cannot rely solely on the measure of IQ to define ID. More recently, the term ID has been suggested to replace “mental retardation.” 7 , 8 For the purposes of this clinical report, the American Association on Intellectual and Developmental Disability definition is used: “Intellectual disability is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. The disability originates before age 18 years.” 7 The prevalence of ID is estimated to be between 1% and 3%. Lifetime costs (direct and indirect) to support individuals with ID are large, estimated to be an average of approximately $1 million per person. 9  

Identifying the type of developmental delay is an important preliminary step, because typing influences the path of investigation later undertaken. GDD is defined as a significant delay in 2 or more developmental domains, including gross or fine motor, speech/language, cognitive, social/personal, and activities of daily living and is thought to predict a future diagnosis of ID. 10 Such delays require accurate documentation by using norm-referenced and age-appropriate standardized measures of development administered by experienced developmental specialists. The term GDD is reserved for younger children (ie, typically younger than 5 years), whereas the term ID is usually applied to older children for whom IQ testing is valid and reliable. Children with GDD are those who present with delays in the attainment of developmental milestones at the expected age; this implies deficits in learning and adaptation, which suggests that the delays are significant and predict later ID. However, delays in development, especially those that are mild, may be transient and lack predictive reliability for ID or other developmental disabilities. For the purposes of this report, children with delays in a single developmental domain (for example, isolated mild speech delay) should not be considered appropriate candidates for the comprehensive genetic evaluation process set forth here. The prevalence of GDD is estimated to be 1% to 3%, similar to that of ID.

Schaefer and Bodensteiner 11 wrote that a specific diagnosis is that which “can be translated into useful clinical information for the family, including providing information about prognosis, recurrence risks, and preferred modes of available therapy.” For example, agenesis of the corpus callosum is considered a sign and not a diagnosis, whereas the autosomal-recessive Acrocallosal syndrome (agenesis of the corpus callosum and polydactyly) is a clinical diagnosis. Van Karnebeek et al 12 defined etiologic diagnosis as “sufficient literature evidence…to make a causal relationship of the disorder with mental retardation likely, and if it met the Schaefer-Bodensteiner definition.” This clinical report will use this Van Karnebeek modification of the Schaefer–Bodensteiner definition and, thus, includes the etiology (genetic mutation or genomic abnormality) as an essential element to the definition of a diagnosis.

Recommendations are best when established from considerable empirical evidence on the quality, yield, and usefulness of the various diagnostic investigations appropriate to the clinical situation. The evidence for this clinical report is largely based on many small- or medium-size case series and on expert opinion. The report is based on a review of the literature by the authors.

Significant changes in genetic diagnosis in the last several years have made the 2006 clinical report out-of-date. First, the chromosome microarray (CMA) is now considered a first-line clinical diagnostic test for children who present with GDD/ID of unknown cause. Second, this report highlights a renewed emphasis on the identification of “treatable” causes of GDD/ID with the recommendation to consider screening for inborn errors of metabolism in all patients with unknown etiology for GDD/ID. 13  

Nevertheless, the approach to the patient remains familiar to pediatric primary care providers and includes the child’s medical history (including prenatal and birth histories); the family history, which includes construction and analysis of a pedigree of 3 generations or more; the physical and neurologic examinations emphasizing the examination for minor anomalies (the “dysmorphology examination”); and the examination for neurologic or behavioral signs that might suggest a specific recognizable syndrome or diagnosis. After the clinical genetic evaluation, judicious use of laboratory tests, imaging, and other consultations on the basis of best evidence are important in establishing the diagnosis and for care planning.

CMA now should be considered a first-tier diagnostic test in all children with GDD/ID for whom the causal diagnosis is not known. G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID for more than 35 years. CMA is now the standard for diagnosis of patients with GDD/ID, as well as other conditions, such as autism spectrum disorders or multiple congenital anomalies. 14 , – 24 The G-banded karyotype allows a cytogeneticist to visualize and analyze chromosomes for chromosomal rearrangements, including chromosomal gains (duplications) and losses (deletions). CMA performs a similar function, but at a much “higher resolution,” for genomic imbalances, thus increasing the sensitivity substantially. In their recent review of the CMA literature, Vissers et al 25 report the diagnostic rate of CMA to be at least twice that of the standard karyotype. CMA, as used in this clinical report, encompasses all current types of array-based genomic copy number analyses, including array-based comparative genomic hybridization and single-nucleotide polymorphism arrays (see Miller et al 15 for a review of array types). With these techniques, a patient’s genome is examined for detection of gains or losses of genome material, including those too small to be detectable by standard G-banded chromosome studies. 26 , 27 CMA replaces the standard karyotype (“chromosomes”) and fluorescent in situ hybridization (FISH) testing for patients presenting with GDD/ID of unknown cause. The standard karyotype and certain FISH tests remain important to diagnostic testing but now only in limited clinical situations (see Manning and Hudgins 14 ) in which a specific condition is suspected (eg, Down syndrome or Williams syndrome). The discussion of CMA does not include whole-genome sequencing, exome sequencing, or “next-generation” genome sequencing; these are discussed in the “emerging technologies” section of this report.

Twenty-eight case series have been published addressing the rate of diagnosis by CMA of patients presenting with GDD/ID. 28 The studies vary by subject criteria and type of microarray technique and reflect rapid changes in technology over recent years. Nevertheless, the diagnostic yield for all current CMA is estimated at 12% for patients with GDD/ID. 14 , – 29 CMA is the single most efficient diagnostic test, after the history and examination by a specialist in GDD/ID.

CMA techniques or “platforms” vary. Generally, CMA compares DNA content from 2 differentially labeled genomes: the patient and a control. In the early techniques, 2 genomes were cohybridized, typically onto a glass microscope slide on which cloned or synthesized control DNA fragments had been immobilized. Arrays have been built with a variety of DNA substrates that may include oligonucleotides, complementary DNAs, or bacterial artificial chromosomes. The arrays might be whole-genome arrays, which are designed to cover the entire genome, or targeted arrays, which target known pathologic loci, the telomeres, and pericentromeric regions. Some laboratories offer chromosome-specific arrays (eg, for nonsyndromic X-linked ID [XLID]). 30 The primary advantage of CMA over the standard karyotype or later FISH techniques is the ability of CMA to detect DNA copy changes simultaneously at multiple loci in a genome in one “experiment” or test. The copy number change (or copy number variant [CNV]) may include deletions, duplications, or amplifications at any locus, as long as that region is represented on the array. CMA, independent of whether it is “whole genome” or “targeted” and what type of DNA substrate (single-nucleotide polymorphisms, 31 oligonucleotides, complementary DNAs, or bacterial artificial chromosomes), 32 identifies deletions and/or duplications of chromosome material with a high degree of sensitivity in a more efficient manner than FISH techniques. Two main factors define the resolution of CMA: (1) the size of the nucleic acid targets; and (2) the density of coverage over the genome. The smaller the size of the nucleic acid targets and the more contiguous the targets on the native chromosome are, the higher the resolution is. As with the standard karyotype, one result of the CMA test can be “of uncertain significance,” (ie, expert interpretation is required, because some deletions or duplications may not be clearly pathogenic or benign). Miller et al 15 describe an effort to develop an international consortium of laboratories to address questions surrounding array-based testing interpretation. This International Standard Cytogenomic Array Consortium 15 ( www.iscaconsortium.org ) is investigating the feasibility of establishing a standardized, universal system of reporting and cataloging CMA results, both pathologic and benign, to provide the physician with the most accurate and up-to-date information.

It is important for the primary care pediatrician to work closely with the clinical geneticist and the diagnostic laboratory when interpreting CMA test results, particularly when “variants of unknown significance” are identified. In general, CNVs are assigned the following interpretations: (1) pathogenic (ie, abnormal, well-established syndromes, de novo variants, and large changes); (2) variants of unknown significance; and (3) likely benign. 15 These interpretations are not essentially different than those seen in the standard G-banded karyotype. It is important to note that not all commercial health plans in the United States include this testing as a covered benefit when ordered by the primary care pediatrician; others do not cover it even when ordered by the medical geneticist. Typically, the medical genetics team has knowledge and experience in matters of payment for testing.

The literature does not stratify the diagnostic rates of CMA by severity of disability. In addition, there is substantial literature supporting the multiple factors (eg, social, environmental, economic, genetic) that contribute to mild disability. 33 Consequently, it remains within the judgment of the medical geneticist as to whether it is warranted to test the patient with mild (and familial) ID for pathogenic CNVs. In their review, Vissers et al 25 reported on several recurrent deletion or duplication syndromes with mild disability and commented on the variable penetrance of the more common CNV conditions, such as 1q21.1 microdeletion, 1q21.1 microduplication, 3q29 microduplication, and 12q14 microdeletion. Some of these are also inherited. Consequently, among families with more than one member with disability, it remains challenging for the medical geneticist to know for which patient with GDD/ID CMA testing is not warranted.

Recent efforts to evaluate reporting of CNVs among clinical laboratories indicate variability of interpretation because of platform variability in sensitivity. 34 , 35 Thus, the interpretation of CMA test abnormal results and variants of unknown significance, and the subsequent counseling of families should be performed in all cases by a medical geneticist and certified genetic counselor in collaboration with the reference laboratory and platform used. Test variability is resolving as a result of international collaborations. 36 With large data sets, the functional impact (or lack thereof) of very rare CNVs is better understood. Still, there will continue to be rare or unique CNVs for which interpretation remain ambiguous. The medical geneticist is best equipped to interpret such information to families and the medical home.

Since the 2006 AAP clinical report, several additional reports have been published regarding metabolic testing for a cause of ID. 13 , 37 , – 40 The percentage of patients with identifiable metabolic disorders as cause of the ID ranges from 1% to 5% in these reports, a range similar to those studies included in the 2006 clinical report. Likewise, these newer published case series varied by site, age range of patients, time frame, study protocol, and results. However, they do bring renewed focus to treatable metabolic disorders. 13 Furthermore, some of the disorders identified are not included currently in any newborn screening blood spot panels. Although the prevalence of inherited metabolic conditions is relatively low (0% to 5% in these studies), the potential for improved outcomes after diagnosis and treatment is high. 41  

In 2005, Van Karnebeek et al 40 reported on a comprehensive genetic diagnostic evaluation of 281 consecutive patients referred to an academic center in the Netherlands. All patients were subjected to a protocol for evaluation and studies were performed for all patients with an initially unrecognized cause of mental retardation and included urinary screen for amino acids, organic acids, oligosaccharides, acid mucopolysaccharides, and uric acid; plasma concentrations of total cholesterol and diene sterols of 7- and 8-dehydrocholesterol to identify defects in the distal cholesterol pathway; and a serum test to screen for congenital disorders of glycosylation (test names such as “carbohydrate-deficient transferrin”). In individual patients, other searches were performed as deemed necessary depending on results of earlier studies. This approach identified 7 (4.6%) subjects with “certain or probable” metabolic disorders among those who completed the metabolic screening ( n = 216). None of the 176 screening tests for plasma amino acids and urine organic acids was abnormal. Four children (1.4%) with congenital disorders of glycosylation were identified by serum sialotransferrins, 2 children had abnormal serum cholesterol and 7-dehydrocholesterol concentrations suggestive of Smith-Lemli-Opitz syndrome, 2 had evidence of a mitochondrial disorder, 1 had evidence of a peroxisomal disorder, and 1 had abnormal cerebrospinal fluid biogenic amine concentrations. These authors concluded that “screening for glycosylation defects proved useful, whereas the yield of organic acid and amino acid screening was negligible.”

In a similar study from the Netherlands done more recently, Engbers et al 39 reported on metabolic testing that was performed in 433 children whose GDD/ID remained unexplained after genetic/metabolic testing, which included a standard karyotype; urine screen for amino acids, organic acids, mucopolysaccharides, oligosaccharides, uric acid, sialic acid, purines, and pyrimidines; and plasma for amino acids, acylcarnitines, and sialotransferrins. Screenings were repeated, and additional testing, including cerebrospinal fluid studies, was guided by clinical suspicion. Metabolic disorders were identified and confirmed in 12 of these patients (2.7%), including 3 with mitochondrial disorders; 2 with creatine transporter disorders; 2 with short-chain acyl-coenzyme A dehydrogenase deficiency; and 1 each with Sanfilippo IIIa, a peroxisomal disorder; a congenital disorder of glycosylation; 5-methyltetrahydrofolate reductase deficiency; and deficiency of the GLUT1 glucose transporter.

Other studies have focused on the prevalence of disorders of creatine synthesis and transport. Lion-François et al 37 reported on 188 children referred over a period of 18 months with “unexplained mild to severe mental retardation, normal karyotype, and absence of fragile X syndrome” who were prospectively screened for congenital creatine deficiency syndromes. Children were from diverse ethnic backgrounds. Children with “polymalformative syndromes” were excluded. There were 114 boys (61%) and 74 girls (39%) studied. Creatine metabolism was evaluated by using creatine/creatinine and guanidinoacetate (GAA)-to-creatine ratios on a spot urine screen. Diagnosis was further confirmed by using brain proton magnetic resonance spectroscopy and mutation screening by DNA sequence analysis in either the SLC6A8 (creatine transporter defect) or the GAMT genes. This resulted in a diagnosis in 5 boys (2.7% of all; 4.4% of boys). No affected girls were identified among the 74 studied. All 5 boys also were late to walk, and 3 had “autistic features.” The authors concluded that all patients with undiagnosed ID have urine screened for creatine-to-creatinine ratio and GAA-to-creatine ratio. Similarly, Caldeira Arauja et al 38 studied 180 adults with ID institutionalized in Portugal, screening them for congenital creatine deficiency syndromes. Their protocol involved screening all subjects for urine and plasma uric acid and creatinine. Patients with an increased urinary uric acid-to-creatinine ratio and/or decreased creatinine were subjected to the analysis of GAA. GAMT activity was measured in lymphocytes and followed by GAMT gene analysis. This resulted in identifying 5 individuals (2.8%) from 2 families with GAMT deficiency. A larger but less selective study of 1600 unrelated male and female children with GDD/ID and/or autism found that 34 (2.1%) had abnormal urine creatine-to-creatinine ratios, although only 10 (0.6%) had abnormal repeat tests and only 3 (0.2%) were found to have an SLC6A8 mutation. 42 Clark et al 43 identified SLC6A8 mutations in 0.5% of 478 unrelated boys with unexplained GDD/ID.

Recently, van Karnebeek and Stockler reported 13 , 42 on a systematic literature review of metabolic disorders “presenting with intellectual disability as a major feature.” The authors identified 81 treatable genetic metabolic disorders presenting with ID as a major feature. Of these disorders, 50 conditions (62%) were identified by routinely available tests ( Tables 2 and 3 ). Therapeutic modalities with proven effect included diet, cofactor/vitamin supplements, substrate inhibition, enzyme replacement, and hematopoietic stem cell transplant. The effect on outcome (IQ, developmental performance, behavior, epilepsy, and neuroimaging) varied from improvement to halting or slowing neurocognitive regression. The authors emphasized the approach as one that potentially has significant impact on patient outcomes: “This approach revisits current paradigms for the diagnostic evaluation of ID. It implies treatability as the premise in the etiologic work-up and applies evidence-based medicine to rare diseases.” Van Karnebeek and Stockler 13 , 42 reported on 130 patients with ID who were “tested” per this metabolic protocol; of these, 6 (4.6%) had confirmed treatable inborn errors of metabolism and another 5 (3.8%) had “probable” treatable inborn error of metabolism.

Metabolic Screening Tests

See Fig 1 .

Serum lead, thyroid function studies not included as “metabolic tests” and to be ordered per clinician judgment.

Metabolic Conditions Identified by Tests Listed

Adapted from van Karnebeek and Stockler. 41  

Acylcarn, acylcarnitine profile; CPS, carbamyl phosphate synthetase; GA, glutaric acidemia; HHH, hyperornithinemia-hyperammonemia-homocitrullinuria; HMG-CoA, 3-hydroxy-3-methylglutaryl-coenzyme A; MHBD, 2-methyl-3-hydroxybutyryl CoA dehydrogenase; MMA, methylmalonic acidemia; MTHFR, methylenetetrahydrofolate reductase; NAGS, N-acetylglutamate synthase; OTC, ornithine transcarbamylase; PAA, plasma amino acids; PDH, pyruvate dehydrogenase; P-HCY, plasma homocysteine; PKU; phenylketonuria; PPA, propionic acid; SCOT, succinyl-CoA:3-ketoacid CoA transferase; SSADH, succinic semialdehyde dehydrogenase; UGAA/creat; urine guanidino acid/creatine metabolites; UMPS, urine mucopolysaccharides qualitative screen (glycosaminoglycans); UOA, urine organic acids; UOGS, urine oligosaccharides; UPP, urine purines and pyrimidines.

Late-onset form of condition listed; some conditions are identified by more than 1 metabolic test.

This literature supports the need to consider screening children presenting with GDD/ID for treatable metabolic conditions. Many metabolic screening tests are readily available to the medical home and/or local hospital laboratory service. Furthermore, the costs for these metabolic screening tests are relatively low.

For patients in whom a diagnosis is suspected, diagnostic molecular genetic testing is required to confirm the diagnosis so that proper health care is implemented and so that reliable genetic counseling can be provided. For patients with a clinical diagnosis of a Mendelian disorder that is certain, molecular genetic diagnostic testing usually is not required to establish the diagnosis but may be useful for health care planning. However, for carrier testing or for genetic counseling of family members, it is often essential to know the specific gene mutation in the proband.

For patients with GDD/ID for whom the diagnosis is not known, molecular genetic diagnostic testing is necessary, under certain circumstances, which is discussed in the next section.

There is an approximate 40% excess of boys in all studies of prevalence and incidence of ID. 44 , 45 Part of this distortion of the gender ratio is attributable to X-linked genetic disorders. 46 Consequently, genetic testing for X-linked genes in boys with GDD/ID is often warranted, particularly in patients whose pedigree is suggestive of an X-linked condition. In addition, for several reasons, research in X-linked genes that cause ID is advanced over autosomal genes, 46 , 47 thus accelerating the clinical capacity to diagnose XLID over autosomal forms.

Most common of these is fragile X syndrome, although the prevalence of all other X-linked genes involved in ID far exceeds that of fragile X syndrome alone. 46 Fragile X testing should be performed in all boys and girls with GDD/ID of unknown cause. Of boys with GDD/ID of uncertain cause, 2% to 3% will have fragile X syndrome (full mutation of FMR1 , >200 CGG repeats), as will 1% to 2% of girls (full mutation). 48  

Stevenson and Schwartz 49 suggest 2 clinical categories for those with XLID: syndromal and nonsyndromal. Syndromal refers to patients in whom physical or neurologic signs suggest a specific diagnosis; nonsyndromal refers to those with no signs or symptoms to guide the diagnostic process. Using this classification has practical applicability, because the pediatric primary care provider can establish a specific XLID syndrome on the basis of clinical findings. In contrast, nonsyndromal conditions can only be distinguished on the basis of the knowledge of their causative gene. 50 In excess of 215 XLID conditions have been recorded, and >90 XLID genes have been identified. 46 , 50  

To address male patients with GDD/ID and X-linked inheritance, there are molecular genetic diagnostic “panels” of X-linked genes available clinically. These panels examine many genes in 1 “test sample.” The problem for the clinical evaluation is in which patient to use which test panel, because there is no literature on head-to-head performance of test panels, and the test panels differ somewhat by genes included, test methods used, and the rate of a true pathogenic genetic diagnosis. Nevertheless, the imperative for the diagnostic evaluation remains the same for families and physicians, and there is a place for such testing in the clinical evaluation of children with GDD/ID. For patients with an X-linked pedigree, genetic testing using one of the panels is clinically indicated. The clinical geneticist is best suited to guide this genetic testing of patients with possible XLID. For patients with “syndromal” XLID (eg, Coffin-Lowry syndrome), a single gene test rather than a gene panel is indicated. Whereas those patients with “nonsyndromal” presentation might best be assessed by using a multigene panel comprising many of the more common nonsyndromal XLID genes. The expected rate of the diagnosis may be high. Stevenson and Schwartz 46 reported, for example, on 113 cases of nonspecific ID testing using a 9-gene panel of whom 9 (14.2%) had pathogenic mutations identified. de Brouwer et al 51 reported on 600 families with multiple boys with GDD/ID and normal karyotype and FMR1 testing. Among those families with “an obligate female carrier” (defined by pedigree analysis and linkage studies), a specific gene mutation was identified in 42%. In addition, in those families with more than 2 boys with ID and no obligate female carrier or without linkage to the X chromosome, 17% of the ID cases could be explained by X-linked gene mutations. This very large study suggested that testing of individual boys for X-linked gene mutations is warranted.

Recently, clinical laboratories have begun offering “high-density” X-CMAs to assess for pathogenic CNVs (see previous discussion regarding microarrays) specifically for patients with XLID. Wibley et al 30 (2010) reported on CNVs in 251 families with evidence of XLID who were investigated by array comparative genomic hybridization on a high-density oligonucleotide X-chromosome array platform. They identified pathogenic CNVs in 10% of families. The high-density arrays for XLID are appropriate in those patients with syndromal or nonsyndromal XLID. The expected diagnostic rate remains uncertain, although many pathogenic segmental duplications are reported (for a catalog of X-linked mutations and CNVs, see http://www.ggc.org/research/molecular-studies/xlid.html ).

Whole exome sequencing and whole-genome sequencing are emerging testing technologies for patients with nonspecific XLID. Recently, Tarpey et al 52 have reported the results of the large-scale systematic resequencing of the coding X chromosome to identify novel genes underlying XLID. Gene coding sequences of 718 X-chromosome genes were screened via Sanger sequencing technology in probands from 208 families with probable XLID. This resequencing screen contributed to the identification of 9 novel XLID-associated genes but identified pathogenic sequence variants in only 35 of 208 (17%) of the cohort families. This figure likely underestimates the general contribution of sequence variants to XLID given the subjects were selected from a pool that had had previous clinical and molecular genetic screening. 30  

Table 4 lists some common XLID conditions. In cases in which the diagnosis is not certain, molecular genetic testing of patients for the specific gene is indicated, even if the pedigree does not indicate other affected boys (ie, cannot confirm X-linked inheritance). 46  

Common Recognizable XLID Syndromes

Reproduced with permission from Stevenson and Schwartz. 46  

Rett syndrome is an X-linked condition that affects girls and results from MECP2 gene mutations primarily (at least 1 other gene has been determined causal in some patients with typical and atypical Rett syndrome: CDKL5) . Girls with mutations in the MECP2 gene do not always present clinically with classic Rett syndrome. Several large case series have examined the rate of pathogenic MECP2 mutations in girls and boys with ID. The proportion of MECP2 mutations in these series ranged from 0% to 4.4% with the average of 1.5% among girls with moderate to severe ID. 53 , – 62   MECP2 mutations in boys present with severe neonatal encephalopathy and not with GDD/ID.

Currently, the literature does not indicate consensus on the role that neuroimaging, either by computed tomography (CT) or MRI, can play in the evaluation of children with GDD/ID. Current recommendations range from performing brain imaging on all patients with GDD/ID, 63 to performing it only on those with indications on clinical examination, 12 to being considered as a second-line investigation to be undertaken when features in addition to GDD are detected either on history or physical examination. The finding of a brain abnormality or anomaly on neuroimaging may lead to the recognition of a specific cause of an individual child’s developmental delay/ID in the same way that a dysmorphologic examination might lead to the inference of a particular clinical diagnosis. However, like other major or minor anomalies noted on physical examination, abnormalities on neuroimaging typically are not sufficient for determining the cause of the developmental delay/ID; the underlying precise, and presumably frequently genetic in origin, cause of the brain anomaly is often left unknown. Thus, although a central nervous system (CNS) anomaly (often also called a “CNS dysgenesis”) is a useful finding and indeed may be considered, according to the definition of Schaefer and Bodensteiner, 11 a useful “diagnosis.” However, it is frequently not an etiologic or syndromic diagnosis. This distinction is not always made in the literature on the utility of neuroimaging in the evaluation of children with developmental delay/ID. The lack of a consistent use of this distinction has led to confusion regarding this particular issue.

Early studies on the use of CT in the evaluation of children with idiopathic ID 64 indicated a low diagnostic yield for the nonspecific finding of “cerebral atrophy,” which did not contribute to clarifying the precise cause of the ID. 65 Later studies that used MRI to detect CNS abnormalities suggested that MRI was more sensitive than CT, with an increased diagnostic yield. 10 , 66 The rate of abnormalities actually detected on imaging varies widely in the literature as a result of many factors, such as subject selection and the method of imaging used (ie, CT or MRI). Schaefer and Bodensteiner, 63 in their literature review, found reported ranges of abnormalities from 9% to 80% of those patients studied. Shevell et al 10 reported a similar range of finding in their review. For example, in 3 studies totaling 329 children with developmental delay in which CT was used in almost all patients and MRI was used in but a small sample, a specific cause was determined in 31.4%, 67 27%, 68 and 30% 69 of the children. In their systematic review of the literature, van Karnebeek et al 12 reported on 9 studies that used MRI in children with ID. The mean rate of abnormalities found was 30%, with a range of 6.2% to 48.7%. These investigators noted that more abnormalities were found in children with moderate to profound ID versus those with borderline to mild ID (mean yield of 30% and 21.2%, respectively). These authors also noted that none of the studies reported on the value of the absence of any neurologic abnormality for a diagnostic workup and concluded that “the value for finding abnormalities or the absence of abnormalities must be higher” than the 30% mean rate implied.

If neuroimaging is performed in only selected cases, such as children with an abnormal head circumference or an abnormal focal neurologic finding, the rate of abnormalities detected is increased further than when used on a screening basis in children with a normal neurologic examination except for the documentation of developmental delay. Shevell et al 68 reported that the percentage of abnormalities were 13.9% if neuroimaging was performed on a “screening basis” but increased to 41.2% if performed on “an indicated basis.” Griffiths et al 70 highlighted that the overall risk of having a specific structural abnormality found on MRI scanning was 28% if neurologic symptoms and signs other than developmental delay were present, but if the developmental delay was isolated, the yield was reduced to 7.5%. In a series of 109 children, Verbruggen et al 71 reported an etiologic yield on MRI of 9%. They noted that all of these children had neurologic signs or an abnormal head circumference. In their practice parameter, the American Academy of Neurology and the Child Neurology Society 10 discussed other studies on smaller numbers of patients who showed similar results, which led to their recommendation that “neuroimaging is a recommended part of the diagnostic evaluation,” particularly should there be abnormal findings on examination (ie, microcephaly, macrocephaly, focal motor findings, pyramidal signs, extrapyramidal signs) and that MRI is preferable to CT. However, the authors of the American College of Medical Genetics Consensus Conference Report 10 stated that neuroimaging by CT or MRI in normocephalic patients without focal neurologic signs should not be considered a “standard of practice” or mandatory and believed that decisions regarding “cranial imaging will need to follow (not precede) a thorough assessment of the patient and the clinical presentation.” In contrast, van Karnebeek et al 12 found that MRI alone leads to an etiologic diagnosis in a much lower percentage of patients studied. They cited Kjos et al, 72 who reported diagnoses in 3.9% of patients who had no known cause for their ID and who did not manifest either a progressive or degenerative course in terms of their neurologic symptomatology. Bouhadiba et al 73 reported diagnoses in 0.9% of patients with neurologic symptoms, and in 4 additional studies, no etiologic or syndromic diagnosis on the basis of neuroimaging alone was found. 65 , 69 , 74 , 75 The authors of 3 studies reported the results on unselected patients; Majnemer and Shevell 67 reported a diagnosis by this typed unselected investigation in 0.2%, Stromme 76 reported a diagnosis in 1.4% of patients, and van Karnebeek et al 40 reported a diagnosis in 2.2% of patients.

Although a considerable evolution has occurred over the past 2 decades in neuroimaging techniques and modalities, for the most part with the exception of proton magnetic resonance spectroscopy, this has not been applied or reported in the clinical situation of developmental delay/ID in childhood. Proton resonance spectroscopy provides a noninvasive mechanism of measuring brain metabolites, such as lactate, using technical modifications to MRI. Martin et al 77 did not detect any differences in brain metabolite concentrations among stratifications of GDD/ID into mild, moderate, and severe levels. Furthermore, they did not detect any significant differences in brain metabolite concentration between children with GDD/ID and age-matched typically developing control children. Thus, these authors concluded that proton resonance spectroscopy “has little information concerning cause of unexplained DD.” Similarly, the studies by Martin et al 77 and Verbruggen et al 71 did not reveal that proton magnetic resonance spectroscopy was particularly useful in the determination of an underlying etiologic diagnosis in children with unexplained developmental delay/ID.

All of these findings suggest that abnormal findings on MRI are seen in ∼30% of children with developmental delay/ID. However, only in a fraction of these children does MRI lead to an etiologic or syndromic diagnosis. The precise value of a negative MRI result in leading to a diagnosis has not yet been studied in detail. In addition, MRI in the young child with developmental delay/ID invariably requires sedation or, in some cases, anesthesia to immobilize the child to accomplish the imaging study. This need, however, is decreasing with faster acquisition times provided by more modern imaging technology. Although the risk of sedation or anesthesia is small, it still merits consideration within the decision calculus for practitioners and the child’s family. 63 , 78 , 79 Thus, although MRI is often useful in the evaluation of the child with developmental delay/ID, at present, it cannot be definitively recommended as a mandatory study, and it certainly has higher diagnostic yields when concurrent neurologic indications exist derived from a careful physical examination of the child (ie, microcephaly, microcephaly, seizures, or focal motor findings).

The following is the recommended medical genetic diagnostic evaluation flow process for a new patient with GDD/ID. All patients with ID, irrespective of degree of disability, merit a comprehensive medical evaluation coordinated by the medical home in conjunction with the medical genetics specialist. What follows is the clinical genetics evaluation ( Fig 1 ):

Diagnostic process and care planning. Metabolic test 1: blood homocysteine, acylcarnitine profile, amino acids; and, urine organic acids, glycosaminoglycans, oligosaccharides, purines, pyrimidines, GAA/creatine metabolites. Metabolic test 2 based on clinical signs and symptoms. FH, family history; MH, medical history; NE, neurologic examination; PE, physical and dysmorphology examination.

Complete medical history; 3-generation family history; and physical, dysmorphologic, and neurologic examinations.

If the specific diagnosis is certain, inform the family and the medical home, providing informational resources for both; set in place an explicit shared health care plan 80 with the medical home and family, including role definitions; provide sources of information and support to the family; provide genetic counseling services by a certified genetic counselor; and discuss treatment and prognosis. Confirm the clinical diagnosis with the appropriate genetic testing, as warranted by clinical circumstances.

If a specific diagnosis is suspected, arrange for the appropriate diagnostic studies to confirm including single-gene tests or chromosomal microarray test.

If diagnosis is unknown and no clinical diagnosis is strongly suspected, begin the stepwise evaluation process:

Chromosomal microarray should be performed in all.

Specific metabolic testing should be considered and should include serum total homocysteine, acyl-carnitine profile, amino acids; and urine organic acids, glycosaminoglycans, oligosaccharides, purines, pyrimidines, GAA/creatine metabolites.

Fragile X genetic testing should be performed in all.

If no diagnosis is established:

Male gender and family history suggestive X-linkage, complete XLID panel that contains genes causal of nonsyndromic XLID and complete high-density X-CMA. Consider X-inactivation skewing in the mother of the proband.

Female gender: complete MECP2 deletion, duplication, and sequencing study.

If microcephaly, macrocephaly, or abnormal findings on neurologic examination (focal motor findings, pyramidal signs, extrapyramidal signs, intractable epilepsy, or focal seizures), perform brain MRI.

If brain MRI findings are negative or normal, review status of diagnostic evaluation with family and medical home.

Consider referrals to other specialists, signs of inborn errors of metabolism for which screening has not yet been performed, etc.

If no further studies appear warranted, develop a plan with the family and medical home for needed services for child and family; also develop a plan for diagnostic reevaluation.

Health care systems, processes, and outcomes vary geographically, and not all of what is recommended in this clinical report is easily accessible in all regions of the United States. 21 , 81 , – 84 Consequently, local factors affect the process of evaluation and care. These arrangements are largely by local custom or design. In some areas, there may be quick access and intimate coordination between the medical home and medical genetics specialist, but in other regions, access may be constrained by distance or by decreased capacity, making for long wait times for appointments. Some general pediatricians have the ability to interpret the results of genetic testing that they may order. In addition, children with GDD or ID are often referred by pediatricians to developmental pediatricians, child neurologists, or other subspecialists. It is appropriate for some elements of the medical genetic evaluation to be performed by physicians other than medical geneticists if they have the ability to interpret the test results and provide appropriate counseling to the families. In such circumstances, the diagnostic evaluation process can be designed to address local particularities. The medical home is responsible for referrals of the family and child to the appropriate special education or early developmental services professional for individualized services. In addition, the medical home can begin the process of the diagnostic evaluation if access is a problem and in coordination with colleagues in medical genetics. 80 , 85 What follows is a suggested process for the evaluation by the medical home and the medical genetics specialist and only applies where access is a problem; any such process is better established with local particularities in mind:

Medical home completes the medical evaluation, determines that GDD/ID is present, counsels family, refers to educational services, completes a 3-generation family history, and completes the physical examination and addresses the following questions:

Does the child have abnormalities on the dysmorphologic examination?

If no or uncertain, obtain microarray, perform fragile X testing, and consider the metabolic testing listed previously. Confirm that newborn screening was completed and reported negative. Refer to medical genetics while testing is pending.

If yes, send case summary and clinical photo to medical genetics center for review for syndrome identification. If diagnosis is suspected, arrange for expedited medical genetics referral and hold all testing listed above. Medical geneticist to arrange visit with genetic counselor for testing for suspected condition.

Does the child have microcephaly, macrocephaly, or abnormal neurologic examination (listed above)? If “yes,” measure parental head circumferences and review the family history for affected and unaffected members. If normal head circumferences in both parents and negative family history, obtain brain MRI and refer to medical genetics.

Does child also have features of autism, cerebral palsy, epilepsy, or sensory disorders (deafness, blindness)? This protocol does not address these patients; manage and refer as per local circumstances.

As above are arranged and completed and negative, refer to medical genetics and hold on additional diagnostic testing until consultation completed. Continue with current medical home family support services and health care.

Should a diagnosis be established, the medical home, medical geneticist, and family might then agree to a care plan with explicit roles and responsibilities of all.

Should a diagnosis not be established by medical genetics consultation, the medical home, family, and medical geneticist can then agree on the frequency and timing of diagnostic reevaluation while providing the family and child services needed.

Several research reports have cited whole-exome sequencing and whole-genome sequencing in patients with known clinical syndromes for whom the causative gene was unknown. These research reports identified the causative genes in patients with rare syndromes (eg, Miller syndrome, 86 Charcot-Marie-Tooth disease, 87 and a child with severe inflammatory bowel disease 88 ). Applying similar whole-genome sequencing of a family of 4 with 1 affected individual, Roach et al 86 identified the genes for Miller syndrome and primary ciliary dyskinesia. The ability to do whole-genome sequencing and interpretation at an acceptable price is on the horizon. 87 , 89 The use of exome or whole-genome sequencing challenges the field of medical genetics in ways not yet fully understood. When a child presents with ID and whole-genome sequencing is applied, one will identify mutations that are unrelated to the question being addressed, in this case “What is the cause of the child’s intellectual disability?” One assumes that this will include mutations that families do not want to have (eg, adult-onset disorders for which no treatment now exists). This is a sea change for the field of medical genetics, and the implications of this new technology have not been fully explored. In addition, ethical issues regarding validity of new tests, uncertainty, and use of resources will need to be addressed as these technologies become available for clinical use. 90 , 91  

The medical genetic diagnostic evaluation of the child with GDD/ID is best accomplished in collaboration with the medical home and family by using this clinical report to guide the process. The manner in which the elements of this clinical protocol are applied is subject to local circumstances, as well as the decision-making by the involved pediatric primary care provider and family. The goals and the process of the diagnostic evaluation are unchanged: to improve the health and well-being of those with GDD/ID. It is important to emphasize the new role of the genomic microarray as a first-line test, as well as the renewal of efforts to identify the child with an inborn error of metabolism. The future use of whole-genome sequencing offers promise and challenges needing to be addressed before regular implementation in the clinic.

John B. Moeschler, MD, MS, FAAP, FACMG

Michael Shevell, MDCM, FRCP

Robert A. Saul, MD, FAAP, Chairperson

Emily Chen, MD, PhD, FAAP

Debra L. Freedenberg, MD, FAAP

Rizwan Hamid, MD, FAAP

Marilyn C. Jones, MD, FAAP

Joan M. Stoler, MD, FAAP

Beth Anne Tarini, MD, MS, FAAP

Stephen R. Braddock, MD

Katrina M. Dipple, MD, PhD – American College of Medical Genetics

Melissa A. Parisi, MD, PhD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

Nancy Rose, MD – American College of Obstetricians and Gynecologists

Joan A. Scott, MS, CGC – Health Resources and Services Administration, Maternal and Child Health Bureau

Stuart K. Shapira, MD, PhD – Centers for Disease Control and Prevention

American Academy of Pediatrics

chromosome microarray

central nervous system

copy number variant

computed tomography

fluorescent in situ hybridization

guanidinoacetate

global developmental delay

intellectual disability

X-linked intellectual disability

This document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements with the American Academy of Pediatrics. Any conflicts have been resolved through a process approved by the Board of Directors. The American Academy of Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication.

The guidance in this report does not indicate an exclusive course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be appropriate.

All clinical reports from the American Academy of Pediatrics automatically expire 5 years after publication unless reaffirmed, revised, or retired at or before that time.

Advertising Disclaimer »

Citing articles via

Email alerts.

Affiliations

• Editorial Board
• Editorial Policies
• Journal Blogs
• Pediatrics On Call
• Online ISSN 1098-4275
• Print ISSN 0031-4005
• Pediatrics Open Science
• Hospital Pediatrics
• Pediatrics in Review
• AAP Grand Rounds
• Latest News
• Pediatric Care Online
• Red Book Online
• Pediatric Patient Education
• AAP Toolkits
• AAP Pediatric Coding Newsletter

First 1,000 Days Knowledge Center

Institutions/librarians, group practices, licensing/permissions, integrations, advertising.

• Privacy Statement | Accessibility Statement | Terms of Use | Support Center | Contact Us
• © Copyright American Academy of Pediatrics

This Feature Is Available To Subscribers Only

Sign In or Create an Account

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• My Account Login
• Explore content
• About the journal
• Publish with us
• Sign up for alerts
• Open access
• Published: 18 May 2020

Clinical Characteristics of Developmentally Delayed Children based on Interdisciplinary Evaluation

• S. W. Kim 1 ,
• H. R. Jeon 1 ,
• H. J. Jung 2 ,
• J. A. Kim 2 ,
• J.-E. Song 3 &
• J. Kim   ORCID: orcid.org/0000-0003-4693-8400 4  

Scientific Reports volume  10 , Article number:  8148 ( 2020 ) Cite this article

13k Accesses

11 Citations

8 Altmetric

Metrics details

• Autism spectrum disorders
• Risk factors

The aim of this study is to examine the clinical characteristics of children suspected to have neurodevelopmental disorders and to present features that could be helpful diagnostic clues at the clinical assessment stage. All children who visited the interdisciplinary clinic for developmental problems from May 2001 to December 2014 were eligible for this study. Medical records of the children were reviewed. A total of 1,877 children were enrolled in this study. Most children were classified into four major diagnostic groups: global developmental delay (GDD), autism spectrum disorder (ASD), developmental language disorder (DLD) and motor delay (MD). GDD was the most common (43.9%), and boys were significantly more predominant than girls in all groups. When evaluating the predictive power of numerous risk factors, the probability of GDD was lower than the probability of ASD among boys, while the probability of GDD increased as independent walking age increased. Compared with GDD and DLD, the probability of GDD was increased when there was neonatal history or when the independent walking age was late. Comparison of ASD and DLD showed that the probability of ASD decreased when a maternal history was present, whereas the probability of ASD increased with male gender. To conclude, the present study revealed the clinical features of children with various neurodevelopmental disorders. These results are expected to be helpful for more effectively flagging children with potential neurodevelopmental disorders in the clinical setting.

Similar content being viewed by others

Autism spectrum disorder

Catherine Lord, Traolach S. Brugha, … Jeremy Veenstra-VanderWeele

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

Darcy L. Fehlings, Mehdi Zarrei, … Stephen W. Scherer

Prenatal and postnatal neuroimmune interactions in neurodevelopmental disorders

Eunha Kim, Jun R. Huh & Gloria B. Choi

Introduction

Developmental disabilities caused by dysfunction of the central nervous system, including the brain, are called neurodevelopmental disorders, and children with neurodevelopmental disorders have difficulties in various fields including physical, linguistic, behavior and learning 1 . According to a previous study conducted in the United States, 5–17% of children suffer from developmental disabilities, and recent trends have shown a gradual increase 2 . Limitations due to neurodevelopmental disorders might continue throughout life, and individuals with these disorders may require special services, health care and support 3 . These factors cause enormous social costs to a country as well as economic and psychological burdens for the families of children with developmental disabilities 4 .

The cause of neurodevelopmental disorders varies, and it is difficult to distinguish between children with neurodevelopmental disorders and typically developing children in early infancy. Even if the neurodevelopmental disorder is caused by nonprogressive factors, the clinical phenotype may change over time as the central nervous system matures 5 . Therefore, children’s symptoms are different according to their age and severity, and the necessary interventions will vary accordingly. As a result, the diagnosis of a neurodevelopmental disorder can vary greatly depending on the clinician’s perspective, and the treatment or intervention or social support offered may differ according to diagnosis. The time at which an expert is consulted varies widely from newborn to school-aged 6 . As shown in previous studies 7 , 8 , intervention during the period when the brain is developing rapidly can minimize disabilities and reduce the gap in developmental delay; as such, it is important to start precise intervention early. Neurodevelopmental disorders express various features, and the degree of influence by developmental domain varies from case to case. Because of the multi-morbidity feature, attempting to intervene by focusing on only one problem can lead to not only overlooking other accompanying problems but also a problem of inefficient use of limited intervention resources.

To compensate for difficulties in dealing with the complexity of neurodevelopmental disorders, an interdisciplinary clinic named the Developmental Delay Clinic (DDC) has been operating in our hospital. In this clinic, three specialists (a pediatric neurologist, pediatric physiatrist and pediatric psychologist) work together to provide comprehensive diagnoses and intervention plans. The three specialists, depending on area of expertise, each examine children, prescribe necessary tests, share and discuss the results of physical and neurological examinations and various tests and produce a precise diagnosis with a balanced intervention plan for each child. In this study, the authors aimed to identify meaningful factors for diagnosis and to determine if it is possible to distinguish major neurodevelopmental disorders at the clinical assessment stage.

Children who visited the DDC in our hospital with complaints of any developmental problems from May 2001 to December 2014 were included in this study. The total number of subjects was 1,877. Approval to perform this retrospective study was obtained from our Institutional Review Board (IRB) and research ethics committee (National Health Insurance Medical Center, NHIMC 2015-09-016). The need for informed consent was formally waived by the IRB and research ethics committee. All methods were performed in accordance with relevant guidelines and regulations.

All patients who visited the DDC for the first time had a history taken, and data were gathered according to the prescribed protocol. Data such as birth history, prenatal history, family history and other medical history were collected from a paper questionnaire. Birth history included intrauterine period and birth weight. Prenatal history included fetal distress, problems related to amniotic fluid or placenta, intrauterine growth retardation (IUGR), and fetal movement abnormality. Events such as fetal apnea, meconium aspiration and neonatal seizures were considered in the neonatal history. Postnatal history included infections such as sepsis, infantile spasm, and febrile convulsion. The presence of family history, such as language delay, autism spectrum disorder, and intellectual disability, and maternal history during the pregnancy period, such as anxiety or insomnia, depression, smoking and drinking, were also assessed in the survey.

After assessing histories through the questionnaire, the three specialists examined the child and prescribed necessary tests according to protocol. The diagnostic protocol was composed of two categories: required tests applied to all children and selective tests applied to some patients who needed those tests, based on each specialist’s judgment 9 (Fig.  1 , Supplementary 1).

Diagnostic protocol for children visited developmental delay clinic.

The diagnosis was determined by discussion among the three specialists in reference to each child’s clinical findings and standardized developmental assessment results. The diagnoses were divided into two categories: either a phenomenological diagnosis based on the child’s current condition or an etiological diagnosis based on the pathophysiology of the condition. All these phenomenological diagnoses were classified into four major groups according to the child’s main features: global developmental delay (GDD), autism spectrum disorder (ASD), developmental language disorder (DLD) and motor delay (MD). The GDD group included diagnoses such as GDD and intellectual disability. GDD refers to children with significant delays in more than two of the following developmental domains: gross motor/fine motor, speech/language, intelligence, social interaction and self-care. In general, children under five years of age who met the requirements were diagnosed with GDD, while older children who could be examined using a reliable and formal intelligence test were diagnosed with intellectual disability 10 . Diagnoses such as reactive attachment disorder and social communication disorder were included in the ASD group. Those in the ASD group were diagnosed based on diagnostic criteria from the Diagnostic and Statistical Manual of Mental Disorders, 4 th edition (DSM-IV) 11 . However, since it has been updated from DSM-IV to DSM-V, the term ASD is used in this paper to prevent confusion. MD was defined as significant impairment of gross and/or fine-motor function compared with other developmental domains. Cerebral palsy and developmental coordination disorder were included in this group. DLD was defined as significant impairment of speech and language ability compared with other developmental domains. In this context, “significant” meant more than two standard deviations below the average value for the same age 10 . Etiological diagnoses included chromosomal and genetic anomalies, myopathy, and metabolic disease, among others.

Statistical analysis

SAS ver. 9.2 (SAS Institute, Cary, NC, USA) was used for statistical analysis. The results of the survey were obtained using the Kruskal-Wallis test with Bonferroni correction and logistic regression analysis. The level of significance was set at p < 0.05.

A total of 1,877 children were enrolled in this study. When divided into classes according to major phenomenological diagnosis, GDD accounted for the largest number, with 824 children (43.9%), followed by ASD with 430 (22.9%), DLD with 389 (20.7%) and MD with 72 (3.8%). Only 16 children (0.9%) were finally diagnosed as developing normally after all tests and examinations were given. Boys were more predominant than girls, with 1,316 (70.1%) and 561 (29.9%), respectively (p < 0.05). The age at which children visited the DDC ranged from 2 months to 192 months, and the average age was 50.9 ± 30.0 months. The corrected age was used for preterm children until they reached two years old. Two hundred thirty-four children (12.5%) out of the total could be diagnosed with an etiological diagnosis. Among these, hypoxic ischemic encephalopathy accounted for the largest number, with 58 children (24.8%), followed by chromosomal and/or genetic abnormalities with 53 children (22.6%) and congenital anomalies of the brain with 33 children (14.0%). Among the children who underwent a brain MRI, abnormal findings were mostly found in MD with 27.8%, which was significantly higher than ASD and DLD (p < 0.05) (Table  1 ).

With respect to preterm birth (gestational age less than 37 weeks), the history of preterm birth was the most prevalent in MD (29.2%), which was significantly higher than that in GDD (12.5%), ASD (10.9%) and DLD (8.7%) (p < 0.05). A history of low birth weight (LBW, birth weight less than 2,500 grams) was most common in MD (44.4%), which was significantly higher than that in ASD (20.9%) and DLD (25.4%) (p < 0.05) but not GDD (32.5%) (p = 0.426). Prenatal histories were most prevalent in MD (5.6%), which was significantly higher than in ASD and DLD (p < 0.05). Neonatal histories were also most prevalent in MD (29.2%), which was significantly higher than in the other three groups (p < 0.05). GDD and MD had a significantly higher prevalence of postnatal history compared with ASD and DLD (p < 0.05), but the difference between GDD and MD was not significant. Among family histories, language delay was the most common across all diagnosis groups, but the prevalence of having a family history did not differ significantly among the groups (p = 0.445). With regard to maternal histories, a maternal history of having anxiety or insomnia was the most common type in GDD, ASD and DLD, but drugs or drinking alcohol were the most common in MD. The percentage of cases with a maternal history did not differ significantly across the groups (p = 0.294) (Table  2 ).

Among the various risk factors mentioned above, logistic regression analysis performed to compare the groups and to determine if certain risk factors contributed to being diagnosed with GDD, ASD and DLD. When comparing GDD with ASD, the risk of having GDD decreased with boys and the presence of family history, while the risk increased with the presence of neonatal, postnatal and maternal history, later independent walking age (a representation of delayed motor milestone) and abnormal findings in the brain MRI. After controlling for confounders, gender and independent walking age showed significant between-group differences. When comparing GDD with DLD, the risk of having GDD was lower in boys and with the presence of a family history, while the risk increased with presence of the prenatal, neonatal and postnatal history, later independent walking age and abnormal findings in the brain MRI. After controlling for confounders, neonatal history and independent walking age showed significant between-group differences. When comparing ASD with DLD, the risk of having ASD was higher in boys, while the risk decreased with the presence of maternal history. The results were the same after controlling for confounders (Table  3 , Fig.  2 ).

Distinctive clinical features among different diagnosis.

When receiver operating characteristic (ROC) curve analysis was performed to confirm the predictive power of these models, the model comparison of GDD vs. ASD and the model comparison of GDD vs. DLD showed good predictive power, while the model comparison of ASD vs. DLD had poor predictive power. Hosmer and Lemeshow’s Goodness-of-Fit Test revealed that all three logistic regression models were fit to predict the risk factors (Table  4 ).

The prevalence of developmental disabilities has risen in recent years with increases in high-risk pregnancies such as aged pregnancy, improved survival of high-risk infants due to medical technology advancement, and improved awareness and diagnosis of developmental disabilities 2 . The goal of early intervention for children with developmental disabilities is to prevent or minimize delays in all developmental domains, and early intervention allows children to achieve developmental milestones through the provision of enriched environments. Additionally, such interventions help caregivers cope efficiently with their children in daily life 12 . As seen in this study, the symptoms of children with neurodevelopmental disorders are very diverse, and the timing and symptoms of caregivers’ perception of something wrong in their children also vary. In addition, during the brain development period, one developmental domain affects the development of other domains, thus indicating multi-morbidity features. Proper intervention is important, but intervention is not always necessary. In some cases, it is more important to educate parents and modify the home environment than to use special resources. To effectively use limited resources, it is important to accurately diagnose neurodevelopmental disorders, which represent a multi-morbidity feature.

Among the patients who visited the DDC during the past 14 years, boys outnumbered girls in all diagnostic groups, which is consistent with previous studies 2 , 13 . Regarding etiological diagnosis, hypoxic ischemic encephalopathy was the most prevalent, followed by chromosomal and genetic abnormalities and congenital anomalies of the brain. These three factors accounted for 61.5% of the total etiologic causes. This outcome is similar to that of a study conducted by Shevell et al . 14 indicating that four causes, i.e., the three causes mentioned above plus poisoning, accounted for 68.9% of total cases with a known etiological basis. There were no children with poisoning in the present study, which could be due to differences in socio-cultural backgrounds. However, more attention to antenatal poisoning might be needed, based on the recent increase in poisoning cases in Korea 15 .

In cases of preterm birth and LBW, which are known as the strongest risk factors for developmental disabilities 16 , a history of preterm birth was significantly more common in MD than in GDD, ASD and DLD. In contrast, a history of LBW was not significantly different between MD and GDD. It could be posited that the risk of GDD increased in cases of small for gestational age even in full-term births. Arcangeli et al . 17 reported that compared with children of appropriate size for their gestational age, children who had a history of being small for their gestational age or who had fetal growth retardation, even in full-term births, showed lower neurodevelopmental scores. Takeuchi et al . 18 reported that being small for gestational age is a risk factor for developmental disabilities, even in full-term babies. These results were consistent with the present study, and more attentive follow-up regarding developmental course is needed for children with a history of being small for gestational age.

Kumar et al . 19 reported that the prevalence of neurodevelopmental disorders was higher in groups having family histories of neurodevelopmental disorders, such as epilepsy, GDD, MD, vision or hearing defects, compared with groups without such histories. Among the types of family histories, a history of language delay was seen the most in all diagnostic groups in this study. This finding could be explained by several factors: language delay is often present in various neurodevelopmental disorders, and the recognition and diagnosis of various neurodevelopmental disorders has improved in recent years, but this was not the case before. It may have been diagnosed as language delay 13 . In addition, it is possible that ASD has been diagnosed as other diseases, such as GDD or language delay, due to negative social perception of the diagnosis in Korea. Several studies have previously revealed that delay in one developmental domain often correlates with delay in other domains. Rechetnikov et al . 20 stated that there was a correlation between motor impairment and speech and language disorder. Wang et al . 21 reported that motor skill and communication skill were correlated with each other and that the motor skill of a one-and-a-half-year-old could predict the communication skill of a three-year-old. Language delay was predominant among the chief complaints of children who visited the DDC, but their final diagnosis was not limited to DLD. Shevell et al . 22 reported that approximately three-quarters of children who were diagnosed with DLD before their fifth birthday showed some limitation of not only language but also communication, motor skill and social function at an early school age. Overall, the physicians would carefully assess all of the developmental domains, even if the chief complaints of parents were language delay, and would also give them a proper intervention plan focusing on the other domains.

This study has a few limitations. First, it is a single-center study, and most of the included children were from a metropolitan area in the Northern Gyeonggi territory. Second, children suspected to have cerebral palsy often visited the outpatient clinic of the rehabilitation department instead of the DDC for their initial evaluation, so the proportion of children with cerebral palsy was low in this study. Third, although the diagnosis may change over time, the study was conducted based on the initial diagnosis. Nevertheless, this study is meaningful in that it is the first study to present a probabilistic model in the clinical evaluation of children with suspected neurodevelopmental disorders. Several papers on the diagnosis of neurodevelopmental disorders that suggest diagnostic steps for GDD and ASD have been published thus far 23 , 24 , 25 , 26 , 27 . However, in contrast to the present study, there were no articles suggesting probabilistic models that included comprehensive history taking and clinical diagnosis. Additionally, most previous studies were confined to one diagnosis, such as cerebral palsy or intellectual disabilities, whereas this study represents the many children who visited interdisciplinary clinics for 14 years with various chief complaints about development.

In conclusion, the present study revealed the clinical characteristics of children who have developmental problems. In this study, we present a feature that can aid diagnosis in the stage of clinical evaluation for children with suspected neurodevelopmental disorders. These results are expected to be helpful for more effectively identifying children with potential neurodevelopmental disorders in the clinical setting.

Kaufmann, W. E., Capone, G. T., Carter, J. C., Lieberman, D. N. & Disability, G. I. Capute and Accardo’s Neurodevelopmental Disabilities in Infancy and Childhood . (Paul H. Brookes Publishing Company Baltimore, 2008).

Boyle, C. A. et al . Trends in the Prevalence of Developmental Disabilities in US Children, 1997–2008. Pediatrics 127 , 1034–1042 (2011).

Article   Google Scholar  

Boulet, S. L., Boyle, C. A. & Schieve, L. A. Health care use and health and functional impact of developmental disabilities among US children, 1997-2005. Arch. Pediatr. Adolesc. Med. 163 , 19–26 (2009).

Anderson, D., Dumont, S., Jacobs, P. & Azzaria, L. The Personal Costs of Caring for a Child with a Disability: A Review of the Literature. Public Health Rep. 122 , 3–16 (2007).

Kaplan, B. J., Dewey, D. M., Crawford, S. G. & Wilson, B. N. The Term Comorbidity Is of Questionable Value in Reference to Developmental Disorders: Data and Theory. J. Learn. Disabil. 34 , 555–565 (2001).

Article   CAS   Google Scholar  

Yeargin-Allsopp, M., Oakley, G. P., Murphy, C. C. & Sikes, R. K. A multiple-source method for studying the prevalence of developmental disabilities in children: the Metropolitan Atlanta Developmental Disabilities Study. Pediatrics 89 , 624–630 (1992).

CAS   PubMed   Google Scholar  

Morgan, C. et al . Effectiveness of motor interventions in infants with cerebral palsy: a systematic review. Dev. Med. Child Neurol. 58 , 900–909 (2016).

Zwaigenbaum, L. et al . Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research. Pediatrics 136 , S60–S81 (2015).

Kim, S. W. et al . Diagnosis and Clinical Features in Children Referred to Developmental Delay Clinic. J. Korean Acad. Rehabil. Med . 28 , 132–139 (2004).

Shevell, M. I. et al . Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 60 , 367–380 (2003).

Segal, D. L. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR). In The Corsini Encyclopedia of Psychology 1–3, https://doi.org/10.1002/9780470479216.corpsy0271 (American Cancer Society, 2010).

Majnemer, A. Benefits of early intervention for children with developmental disabilities. Semin. Pediatr. Neurol. 5 , 62–69 (1998).

Baio, J. Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators; Centers for Disease Control and Prevention (CDC). Prevalence of autism spectrum disorder among children aged 8 years—Autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill. Summ. 63 , 1–21 (2014).

ADS   Google Scholar  

Shevell, M. I., Majnemer, A., Rosenbaum, P. & Abrahamowicz, M. Etiologic yield of subspecialists’ evaluation of young children with global developmental delay. J. Pediatr. 136 , 593–598 (2000).

Yoon, M. S. The current situation and developmental direction of Korean addiction service delivery system. Ment Health Soc Work 35 , 234–266 (2010).

Google Scholar  

Salas, A. A. et al . Gestational age and birthweight for risk assessment of neurodevelopmental impairment or death in extremely preterm infants. Arch. Dis. Child.-Fetal Neonatal Ed. 101 , F494–F501 (2016).

Arcangeli, T., Thilaganathan, B., Hooper, R., Khan, K. S. & Bhide, A. Neurodevelopmental delay in small babies at term: a systematic review. Ultrasound Obstet. Gynecol. 40 , 267–275 (2012).

Takeuchi, A. et al . Neurodevelopment in full-term small for gestational age infants: A nationwide Japanese population-based study. Brain Dev. 38 , 529–537 (2016).

Kumar, R., Bhave, A., Bhargava, R. & Agarwal, G. G. Prevalence and risk factors for neurological disorders in children aged 6 months to 2 years in northern India. Dev. Med. Child Neurol. 55 , 348–356 (2013).

Rechetnikov, R. P. & Maitra, K. Motor impairments in children associated with impairments of speech or language: A meta-analytic review of research literature. Am. J. Occup. Ther. 63 , 255–263 (2009).

Wang, M. V., Lekhal, R., Aarø, L. E. & Schjølberg, S. Co-occurring development of early childhood communication and motor skills: results from a population-based longitudinal study. Child Care Health Dev. 40 , 77–84 (2014).

Shevell, M. I., Majnemer, A., Webster, R. I., Platt, R. W. & Birnbaum, R. Outcomes at school age of preschool children with developmental language impairment. Pediatr. Neurol. 32 , 264–269 (2005).

Moeschler, J. B. & Shevell, M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117 , 2304–2316 (2006).

Moeschler, J. B. & Shevell, M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics 134 , e903–e918 (2014).

Bélanger, S. A. & Caron, J. Evaluation of the child with global developmental delay and intellectual disability. Paediatr. Child Health 23 , 403–410 (2018).

Charman, T. & Gotham, K. Measurement Issues: Screening and diagnostic instruments for autism spectrum disorders–lessons from research and practise. Child Adolesc. Ment. Health 18 , 52–63 (2013).

Charman, T. & Baird, G. Practitioner review: Diagnosis of autism spectrum disorder in 2-and 3-year-old children. J. Child Psychol. Psychiatry 43 , 289–305 (2002).

Download references

Author information

Authors and affiliations.

Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang, Korea

S. W. Kim & H. R. Jeon

Department of Pediatrics, National Health Insurance Service Ilsan Hospital, Goyang, Korea

H. J. Jung & J. A. Kim

Department of Psychiatry, National Health Insurance Service Ilsan Hospital, Goyang, Korea

Department of Rehabilitation Medicine, Inje University Ilsan Paik Hospital, Goyang, Korea

You can also search for this author in PubMed   Google Scholar

Contributions

S.W., H.J. and J.-E. conceived of the presented concept and revised the article. J.K. and H.R. developed the theory, interpreted of data and drafted the article. J.A. collected and analyzed the data and drafted the article. All authors discussed the results and contributed to the final manuscript and had complete access to the study data that support the publication. All authors read and approved the final manuscript.

Corresponding author

Correspondence to J. Kim .

Ethics declarations

Competing interests.

The authors declare no competing interests.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Supplementary 1., rights and permissions.

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ .

Reprints and permissions

About this article

Cite this article.

Kim, S.W., Jeon, H.R., Jung, H.J. et al. Clinical Characteristics of Developmentally Delayed Children based on Interdisciplinary Evaluation. Sci Rep 10 , 8148 (2020). https://doi.org/10.1038/s41598-020-64875-8

Download citation

Received : 28 October 2019

Accepted : 22 April 2020

Published : 18 May 2020

DOI : https://doi.org/10.1038/s41598-020-64875-8

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

This article is cited by

Application of symbolic play test in identification of autism spectrum disorder without global developmental delay and developmental language disorder.

• Xuening Chang

BMC Psychiatry (2023)

By submitting a comment you agree to abide by our Terms and Community Guidelines . If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

• Search Menu
• Advance articles
• Editor's Choice
• Supplements
• Open Access Articles
• Author Guidelines
• Submission Site
• Open Access
• For Reviewers
• About International Health
• About the Royal Society of Tropical Medicine and Hygiene
• Editorial Board
• Advertising and Corporate Services
• Journals Career Network
• Self-Archiving Policy
• Dispatch Dates
• Journals on Oxford Academic
• Books on Oxford Academic

Article Contents

Introduction, child development, developmental disability, early intervention for children with developmental disabilities, case studies of eci for children with developmental disabilities, the case for action, author's contributions, acknowledgements, competing interests, ethical approval.

• < Previous

Early intervention for children with developmental disabilities in low and middle-income countries – the case for action

• Article contents
• Figures & tables
• Supplementary Data

Tracey Smythe, Maria Zuurmond, Cally J Tann, Melissa Gladstone, Hannah Kuper, Early intervention for children with developmental disabilities in low and middle-income countries – the case for action, International Health , Volume 13, Issue 3, May 2021, Pages 222–231, https://doi.org/10.1093/inthealth/ihaa044

• Permissions Icon Permissions

In the last two decades, the global community has made significant progress in saving the lives of children <5 y of age. However, these advances are failing to help all children to thrive, especially children with disabilities. Most early child development research has focussed on the impact of biological and psychosocial factors on the developing brain and the effect of early intervention on child development. Yet studies typically exclude children with disabilities, so relatively little is known about which interventions are effective for this high-risk group. In this article we provide an overview of child development and developmental disabilities. We describe family-centred care interventions that aim to provide optimal stimulation for development in a safe, stable and nurturing environment. We make the case for improving opportunities for children with developmental disabilities to achieve their full potential and thrive, including through inclusive early childhood development intervention. Finally, we call for the global research community to adopt a systematic approach for better evidence for and implementation of early interventions for children with developmental disabilities in low-resource settings.

Substantial global progress has been made in reducing child deaths since 1990 and the mortality rate of children <5 y of age has decreased in all world regions. However, non-communicable morbidities and disabilities have not been addressed to the same extent. This review discusses the urgency of taking actions to narrow the inequality gap in early childhood developmental care, especially for the 53 million children <5 y of age living with disabilities and developmental disorders such as epilepsy, intellectual disability, sensory impairments, autism spectrum disorder and attention deficit hyperactivity disorder. 1 A focus on supporting children with disabilities to thrive during their early years is important, as this period is critical for maximising their development. Furthermore, under the United Nations Convention of Rights for a Child and the United Nations Convention of the Rights of Persons with Disabilities, governments are duty-bound to provide early years services that are inclusive of and available to all children. 2 , 3 This article will describe child development and developmental disabilities and make the case for which equitable early childhood development (ECD) interventions may be optimal for helping children with developmental disabilities to achieve their potential.

Early childhood is a period of great opportunity for optimum brain growth, but it is also a period of vulnerability. Development in language, cognition, motor and socio-emotional domains occurs rapidly in these first years. These areas of development do not operate or develop in isolation, but enable each other and mutually interact as the child learns to become more independent. For instance, as a child learns to see, she will increasingly reach for and play with objects and thereby develop motor skills and coordination. Biological, psychosocial 4 , 5 and environmental factors also crucially affect the structure and functioning of the brain as it is developing. 6 For example, if a child experiences adequate nutrition and is provided with opportunities to play, she may progressively explore her environment and interact with her caregiver and by doing so, reinforce her psychosocial development. Furthermore, the time period when these factors influence brain growth are critically important, as there are particular early windows of opportunity that if not harnessed, may prevent optimal brain development and lifelong well-being. 7

It is increasingly apparent that optimal early child development has lifetime beneficial consequences for educational achievement, adult productivity and population health. 8–10 Conversely, exposure to biological and psychosocial risks negatively affects the developing brain and compromises the development of children. 5 Many structural factors determine these early child circumstances. These factors include a lack of nurturing care (nutrition, stimulation, good health) in the early years, as well as inadequate cognitive and psychosocial stimulation. 5 , 11 Children <5 y of age in low- and middle-income countries (LMICs) may be particularly at risk of poor development due to poor health and nutrition. 7

Child development can be encouraged through intervention in early childhood. 11 A number of mutually important elements are needed for maximising children's development. These include supporting responsive relationships, reducing sources of stress in the lives of children and families, building executive function and self-regulation skills and reinforcing contexts in which learning is most achievable across all developmental domains. 12 , 13 ECD interventions work to improve development through integrating family support, health, nutrition and educational services and providing direct learning experiences to young children and families. 14

The strategic focus of the World health Organization (WHO), United Nations Children's Fund (UNICEF) and World Bank ‘Nurturing Care Framework’ is therefore timely. 15–17 This action plan provides a framework for helping children survive and thrive through five strategic actions—lead and invest, focus on families and their communities, strengthen services, monitor progress and use data and innovate—and thereby aims to transform health and human potential. We know that urgent action is necessary to improve early childhood outcomes and ensure that all children reach their full potential as adults. Children with developmental disabilities must be included in this agenda, as they are a marginalised group with additional and specific needs and will otherwise be left behind.

Developmental delay and developmental disability are two distinct concepts. Developmental delay is often defined as a deviation from normative milestones; this may be in terms of delayed cognitive, language, motor and/or socio-emotional development. 18 The term developmental disabilities covers a range of childhood conditions and is used differently across different settings and cultures. 19 In this article we define developmental disability as a heterogeneous group of conditions that can impact on the development of children's function (e.g. sensory, cognitive, physical), with a very wide range of effects. 20 Developmental disability is the most common cause of childhood disability, with an estimated 53 million children <5 y of age living with developmental disabilities globally. 21 This estimate is based on only six conditions (epilepsy, intellectual disability, vision loss, hearing loss, autism and attention deficit hyperactivity disorder) and on present reporting of these conditions. It is likely therefore that the true number of children with developmental disability is much higher than this estimate, particularly if a broader age range is considered.

The majority of children with developmental disabilities live in LMICs, 21 and the prevalence is higher among families with high levels of poverty and low education. 27 However, there remain data gaps for the prevalence, epidemiology and causes of developmental disabilities in LMICs. 28 One reason for the uncertainty in the estimates is that identification of children with or at risk of developmental delay requires assessment using valid developmental evaluation tools to measure ECD 29 (Box 1 ), and these facilities are often not available in LMICs.

Identification of children with developmental disabilities

The impacts of developmental disabilities extend far beyond functional abilities. Children with developmental disabilities and their families are at high risk of social exclusion, exclusion from education and even stigma and violence. 30 Furthermore, looking after a child with developmental disabilities potentially places an enormous strain on families, and caregivers experience high levels of stress, anxiety, depression, physical exhaustion, stigma and discrimination. 31 This further increases the risk of mental ill health and social isolation in caregivers. A recent systematic review found caregivers of children with intellectual and developmental disabilities, when compared with caregivers of children without intellectual and developmental disabilities, experienced elevated levels of depressive symptoms (31% vs 7%, respectively) and anxiety symptoms (31% vs 14%, respectively). 32 There are also substantial costs to childhood disability, both the cost of additional services and resources required by the child and the lost income from parents who are caring for their child. Consequently, childhood disability may exacerbate poverty. 33 , 34 However, there is generally a lack of available services and support for children with disabilities and their families, especially in LMICs, which further compound these risks.

Evidence is limited, but growing, on the effectiveness of ECD interventions for children at risk of and with developmental delays, particularly in LMICs. 35 Indeed, many programmes and studies actively exclude children with developmental disabilities, as additional considerations may be required, and children with developmental disabilities may be unable to show progress when using developmental progress as the primary outcome 9 , 36–38 (Box 2 ).

Inclusion of children with developmental disabilities in clinical trials

Consequently, risks to delayed development are compounded for children with developmental disabilities, as they potentially receive less stimulation and fewer learning opportunities through other health service or care routes. 39 Exclusion of children with developmental disabilities from ECD thus perpetuates an already fragile cycle of development. We know that early childhood developmental intervention for these children is imperative, but we cannot inform planning and delivery of inclusive services for all children without better research in this area. For example, there are gaps in evidence-based approaches to monitoring and evaluation of ECD projects in LMICs, such as challenges in measurement of outcomes in routine programmes, which limit comparative understanding of impact, and in defining and monitoring quality and coverage. 25

Early identification of children with developmental disabilities, as well as early childhood intervention (ECI), improves children's opportunities to maximise their developmental potential and functioning as well as their quality of life and social participation. 40 , 41 Early identification and intervention are two distinct complementary strands; timely identification of children with developmental disabilities is required for early intervention, which strengthens the cumulative process of development, helping children acquire new skills and behaviours to reinforce and strengthen learning. In addition, some ECIs may have wider benefits for caregivers, such as through establishing support, thus helping build their knowledge, confidence and coping strategies, 32 with positive impacts for their mental health. However, data are lacking from LMICs and there is a paucity of implementation evidence to guide policymakers and donors. 33

ECI for children with disabilities can comprise a range of coordinated multidisciplinary services and can take many forms, including hospital- or clinic-based care, school-based programmes, parenting and community support and home-based childhood therapies. In high-resource settings, we know that family-centred interventions are more likely to result in the greatest satisfaction with services and improve psychosocial well-being for the child and caregiver. 42 With regards to impact, a systematic review of ECIs for children at risk of cerebral palsy demonstrated improved cognitive outcomes up to preschool age and improved motor outcomes during infancy, although variability in interventions limited the identification of which interventions are most effective. 43 Nevertheless, without such ECIs in LMICs, years lived with disability will be more than 3.3 million. 1

There are broadly two approaches to providing ECI for children with developmental disabilities, including children with disabilities in mainstream ECD interventions and targeted intervention programmes for children with disabilities. These approaches take many different forms, as they are used to support children and families with different needs. For example, universal programmes in the UK, such as the five mandated health visits for young children, are offered to all families. In contrast, targeted programmes, such as the Disabled Children's Outreach Service (DCOS), are aimed specifically at vulnerable families of children with a disability where the children are at higher risk of poor outcomes in later life. 44

While both inclusive and targeted efforts for children with disabilities at the level of early childhood centres have increased, 45 weak country health systems and conflict settings are major impediments to delivering high-quality services. 46 There remains a need for inclusive approaches for children with developmental disabilities in mainstream services, as well as within specialist ECIs. This means that the role of families can be particularly crucial to fill existing gaps in service availability.

A number of case studies have been identified for ECI for children with developmental disabilities. The following have been selected for description, as they illustrate different approaches for children with different developmental disabilities in several LMIC settings.

The WHO has developed Caregiver Skills Training (CST) for caregivers of children with intellectual disabilities. 47 , 48 The CST consists of nine group sessions and three home visits. The programme teaches strategies to promote communication and learning and address challenging behaviours. However, sustainable and scalable quality delivery of the group format by a lay facilitator remains a challenge due to limited integration in health systems. 49 Evidence of effectiveness is currently lacking, but randomised controlled trials are under way in Pakistan (Family Networks [FaNs] for Children with Developmental Disorders and Delays 50 ) and Italy, with future trials planned in China, Ethiopia and Kenya. 51

Interventions that aim to provide contextualised psychological support to caregivers of children with intellectual disabilities include ‘Titukulane’, a community group intervention that aims to reduce mental health problems among the parents of affected children. 52 This community-based intervention consists of eight modules that have been developed and piloted to help parents cope with the challenging role of caring for a child with intellectual disabilities.

Learning through Everyday Activities with Parents (LEAP-CP) is a family-centred intervention delivered peer to peer at home during 30 weekly 2h visits that aims to improve the mobility of children with cerebral palsy. 53 Visits include therapeutic modules (goal-directed active motor and cognitive strategies and LEAP-CP games) and parent education. Randomised controlled trials are currently under way in India. 54 The trial also provides nutrition and health support to all families in the study, which may influence the findings.

The London School of Hygiene & Tropical Medicine (UK) has developed three caregiver group interventions under the ‘Ubuntu’ umbrella (resources available from www.ubuntu-hub.org ). The interventions consist of 10 sessions, the content of which includes information about essential care practices, such as feeding, positioning, communication and play, offered through a local support group format. ‘Getting to know cerebral palsy’ was developed as a resource to empower families using a participatory approach at the community level. 31 , 55 The ABAaNA Early Intervention Programme (EIP) was developed in response to a recognised need to support families of very young children (<2 y) with an evolving developmental disability. 56 ‘Juntos’ was developed for children with congenital Zika syndrome and their families in Latin America and integrates a strengthened component on caregiver emotional well-being, arguably fundamental to a child's early development. 57–60

Interventions for children with autism spectrum disorder include PASS, a parent-mediated intervention for autism spectrum disorder in India and Pakistan. 61 The intervention uses video feedback methods to address parent–child interaction and was adapted for delivery by non-specialist workers. As PASS is focused on improving a child's social communication, common mental health comorbidities such as sleep difficulties will be important to integrate into wider intervention programmes.

These examples provide good case studies of diverse interventions for different children with developmental disabilities in different low-resource settings. These case studies indicate that in LMICs, the gap in meeting the holistic needs of children with developmental disabilities may be addressed through the use of community-based group interventions facilitated by trained and supervised health or peer support workers. Commonality is the focus on caregiver involvement, which is critical, particularly where there are few health services. Yet formal evaluation of their effectiveness and cost-effectiveness is lacking, in addition to limited implementation with education and social welfare, which hampers scaling of these services.

The number of children with developmental disabilities is large and the impacts on the child and family are extensive. There are valuable lessons learned from case studies, yet there remains insufficient progress in ECI for children with developmental disabilities and unmet needs are widespread. The causes of this gap are complex and diverse. An important reason is that in many settings health services are often fragile, poorly coordinated and overstrained, with concerns about the availability and quality of healthcare workers capable of delivering the intervention. Health systems gaps are particularly important in fragile states, including those affected by war and famine, as they experience many competing pressing needs. Furthermore, the policy agenda supporting a focus on children with developmental disabilities is weak internationally and nationally in many cases, limiting the priority given to this issue and the availability of funding for developing services. Ensuring inclusive education is a clear responsibility for United Nations member states under international treaties and Sustainable Development Goal 4, to ‘ensure inclusive, equitable quality education for all’. However, investing in inclusion prior to schooling is not mandated and consequently becomes optional. Cultural challenges also exist, such as widespread stigma and discrimination around children with disabilities and their families. 62 Finally, the evidence base on needs for and effectiveness of services is currently weak and needs to be strengthened. Enhancing environments that provide equal opportunities for children with developmental disabilities for ECI therefore requires a systems approach with global collaboration.

Accordingly, priorities for future research to ensure that all young children reach their development potential include assessment of the effect of interventions for children with developmental disability and their families in different low-resource settings. Further identification of barriers to accessing general services (e.g. primary healthcare) as well as specialist services is also required, as poverty remains a major issue for affected families in LMICs. Furthermore, studies that identify how to maximise the reach and cost-effectiveness of ECD interventions for children with developmental disabilities are warranted. Evaluation of how these interventions can be embedded within health systems are needed to strengthen the service delivery strategies. Global collaboration in these efforts are required in research, and critical steps include providing best evidence on practices to improve knowledge and skills at local levels to avoid children with developmental disabilities being turned away from existing services and evidence of ‘what works’ to provide sustainable, inclusive ECD interventions with impact in resource-constrained settings. We call for international research communities, including funders, to adopt a systematic approach for better evidence.

ECD interventions are aimed at improving the development of children. However, children with developmental disabilities are often excluded from these programmes, even though they have the greatest need for support. There is still a dearth of research about what interventions are effective in improving outcomes for this marginalised group and an even greater lack of evidence on cost-effectiveness and what can be successfully implemented at scale. A two-pronged approach is likely to be optimal, encouraging the inclusion of children with disabilities in mainstream ECD programmes, while also offering targeted approaches, most likely through caregivers. We call for global collaboration among international research communities, including funders, to adopt a systematic approach to strengthening the available evidence base of interventions for children with developmental disabilities and their families. We call for greater attention for this marginalised group, to prioritise public policies and hold governments accountable to ensure that multisectoral services centred around the child and his/her family are provided during this crucial time. This will contribute to ensuring that all children have an early foundation for optimal development, a key factor in equitable long-term health.

HK conceived the study. TS carried out the analysis and interpretation of case study data. TS and HK drafted the manuscript. MZ, CJT, MG and HK critically revised the manuscript for intellectual content. All authors read and approved the final manuscript. TS and HK are guarantors of the paper. The data underlying this article are available in the article and in its online supplementary material.

This work was supported by the Wellcome Trust and Department for International Development (grant 206719/Z/17/Z to HK). The funders had no role in the study design, data collection and analysis, decision to publish or preparation of the manuscript.

MG is a member of expert panels for the WHO and UNICEF on measurement of childhood development and disability. This research paper was undertaken outside and separate from these duties.

Not required.

Olusanya BO , de Vries PJ , Olusanya BO et al. . Nurturing care for children with developmental disabilities: a moral imperative for sub-Saharan Africa . Lancet Child Adolesc Health . 2018 ; 2 ( 11 ): 772 – 4 .

Google Scholar

United Nations . Convention on the Rights of the Child 1989 . Available from: http://www2.ohchr.org/english/law/crc.htm .

United Nations Committee on the Rights of Persons with Disabilities . Report of the Committee on the Rights of Persons with Disabilities: First session (23–27 February 2009), Second session (19–23 October 2009), Third session (22–26 February 2010), Fourth session (4–8 October 2010). Available from: https://www.refworld.org/docid/4eef033a2.html [accessed 27 February 2020] .

MAL-ED Network Investigators . Early childhood cognitive development is affected by interactions among illness, diet, enteropathogens and the home environment: findings from the MAL-ED birth cohort study . BMJ Glob Health . 2018 ; 3 ( 4 ): e000752 .

Walker SP , Wachs TD , Grantham-McGregor S et al. . Inequality in early childhood: risk and protective factors for early child development . Lancet . 2011 ; 378 ( 9799 ): 1325 – 38 .

Britto PR , Lye SJ , Proulx K et al. . Nurturing care: promoting early childhood development . Lancet . 2017 ; 389 ( 10064 ): 91 – 102 .

Black MM , Walker SP , Fernald LCH et al. . Early childhood development coming of age: science through the life course . Lancet . 2017 ; 389 ( 10064 ): 77 – 90 .

Attanasio O , Meghir C , Nix E et al. . Human capital growth and poverty: evidence from Ethiopia and Peru . Rev Econ Dyn . 2017 ; 25 : 234 – 59 .

Richter L , Black M , Britto P et al. . Early childhood development: an imperative for action and measurement at scale . BMJ Glob Health . 2019 ; 4 ( Suppl 4 ): e001302 .

Aguilera Vasquez N , Daher J . Do nutrition and cash-based interventions and policies aimed at reducing stunting have an impact on economic development of low-and-middle-income countries? A systematic review . BMC Public Health . 2019 ; 19 ( 1 ): 1419 .

Engle PL , Fernald LC , Alderman H et al. . Strategies for reducing inequalities and improving developmental outcomes for young children in low-income and middle-income countries . Lancet . 2011 ; 378 ( 9799 ): 1339 – 53 .

Aboud FE , Yousafzai AK. Global health and development in early childhood . Annu Rev Psychol . 2015 ; 66 : 433 – 57 .

Institute of Medicine, National Research Council . Transforming the workforce for children birth through age 8: a unifying foundation . Washington, DC : National Academies Press ; 2015 .

Google Preview

Engle PL , Black MM , Behrman JR et al. . Strategies to avoid the loss of developmental potential in more than 200 million children in the developing world . Lancet . 2007 ; 369 ( 9557 ): 229 – 42 .

World Health Organization . Nurturing care framework . Geneva : World Health Organization ; 2018 .

Gove A , Black MM. Measurement of early childhood development and learning under the Sustainable Development Goals . J Hum Dev Capabil . 2016 ; 17 ( 4 ): 599 – 605 .

Daelmans B , Darmstadt GL , Lombardi J et al. . Early childhood development: the foundation of sustainable development . Lancet . 2017 ; 389 ( 10064 ): 9 – 11 .

Boggs D , Milner KM , Chandna J et al. . Rating early child development outcome measurement tools for routine health programme use . Arch Dis Child . 2019 ; 104 ( Suppl 1 ): S22 – 33 .

Wong VCN. Global developmental delay – a delay in development of terminology . Dev Med Child Neurol . 2011 ; 53 ( 7 ): 585 .

Rosenbaum P , Gorter JW. The ‘F-words’ in childhood disability: I swear this is how we should think! Child Care Health Dev . 2012 ; 38 ( 4 ): 457 – 63 .

Global Research on Developmental Disabilities Collaborators . Developmental disabilities among children younger than 5 years in 195 countries and territories, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016 . Lancet Glob Health . 2018 ; 6 ( 10 ): e1100 – 21 .

Bayley N . Bayley scales of infant and toddler development . 3rd ed. London : Pearson ; 2006 .

Gladstone M , Lancaster GA , Umar E et al. . The Malawi Developmental Assessment Tool (MDAT): the creation, validation, and reliability of a tool to assess child development in rural African settings . PLoS Med . 2010 ; 7 ( 5 ): e1000273 .

Abubakar A , Holding P , van Baar A et al. . Monitoring psychomotor development in a resource-limited setting: an evaluation of the Kilifi Developmental Inventory . Ann Trop Paediatr . 2008 ; 28 ( 3 ): 217 – 26 .

Milner KM , Bhopal S , Black M et al. . Counting outcomes, coverage and quality for early child development programmes . Arch Dis Child . 2019 ; 104 ( Suppl 1 ): S13 – 21 .

Sabanathan S , Wills B , Gladstone M . Child development assessment tools in low-income and middle-income countries: how can we use them more appropriately? Arch Dis Child . 2015 ; 100 ( 5 ): 482 – 8 .

Banks LM , Kuper H , Polack S . Poverty and disability in low- and middle-income countries: a systematic review . PLoS One . 2017 ; 12 ( 12 ): e0189996 .

Black MM , Lawn JE . Early childhood developmental disabilities-data still needed . Lancet Glob Health . 2018 ; 6 ( 10 ): e1050 – 1 .

World Health Organization . Developmental difficulties in early childhood: prevention, early identification, assessment and intervention in low- and middle-income countries . Geneva : World Health Organization ; 2012 .

Jones L , Bellis MA , Wood S et al. . Prevalence and risk of violence against children with disabilities: a systematic review and meta-analysis of observational studies . Lancet . 2012 ; 380 ( 9845 ): 899 – 907 .

Zuurmond M , Nyante G , Baltussen M et al. . A support programme for caregivers of children with disabilities in Ghana: understanding the impact on the wellbeing of caregivers . Child Care Health Dev . 2019 ; 45 ( 1 ): 45 – 53 .

Scherer N , Verhey I , Kuper H . Depression and anxiety in parents of children with intellectual and developmental disabilities: a systematic review and meta-analysis . PLoS One . 2019 ; 14 ( 7 ): e0219888 .

Tomlinson M , Darmstadt GL , Yousafzai AK et al. . Global research priorities to accelerate programming to improve early childhood development in the sustainable development era: a CHNRI exercise . J Glob Health 2019 ; 9 ( 3 ): 020703 .

McGovern ME , Krishna A , Aguayo VM et al. . A review of the evidence linking child stunting to economic outcomes . Int J Epidemiol . 2017 ; 46 ( 4 ): 1171 – 91 .

Luby JL. Poverty's most insidious damage: the developing brain . JAMA Pediatr . 2015 ; 169 ( 9 ): 810 – 1 .

Murphy R , Jolley E , Lynch P et al. . Estimated prevalence of disability and developmental delay among preschool children in rural Malawi: findings from ‘Tikule Limodzi’, a cross-sectional survey . Child Care Health Dev . 2020 ; 46 ( 2 ): 187 – 94 .

Black MM , Perez-Escamilla R , Rao SF . Integrating nutrition and child development interventions: scientific basis, evidence of impact, and implementation considerations . Adv Nutr . 2015 ; 6 ( 6 ): 852 – 9 .

Lu C , Black MM , Richter LM . Risk of poor development in young children in low-income and middle-income countries: an estimation and analysis at the global, regional, and country level . Lancet Glob Health . 2016 ; 4 ( 12 ): e916 – 22 .

Canavera K , Johnson L-M , Harman J . Beyond parenting: the responsibility of multidisciplinary health care providers in early intervention policy guidance . Am J Bioeth . 2018 ; 18 ( 11 ): 58 – 60 .

Collins PY , Pringle B , Alexander C et al. . Global services and support for children with developmental delays and disabilities: bridging research and policy gaps . PLoS Med . 2017 ; 14 ( 9 ): e1002393 .

Scherzer AL , Chhagan M , Kauchali S et al. . Global perspective on early diagnosis and intervention for children with developmental delays and disabilities . Dev Med Child Neurol . 2012 ; 54 ( 12 ): 1079 – 84 .

King S , Teplicky R , King G et al. . Family-centered service for children with cerebral palsy and their families: a review of the literature . Semin Pediatr Neurol . 2004 ; 11 ( 1 ): 78 – 86 .

Spittle A , Orton J , Anderson PJ et al. . Early developmental intervention programmes provided post hospital discharge to prevent motor and cognitive impairment in preterm infants . Cochrane Database Syst Rev . 2015 ; 11 : CD005495 .

Powell T . Early intervention. Briefing paper 7647 . London : House of Commons Library ; 2019 .

McLinden M , Lynch P , Soni A et al. . Supporting children with disabilities in low- and middle- income countries: promoting inclusive practice within community-based childcare centres in Malawi through a bioecological systems perspective . Int J Early Child . 2018 ; 50 ( 2 ): 159 – 74 .

Countdown to 2030 Collaboration . Countdown to 2030: tracking progress towards universal coverage for reproductive, maternal, newborn, and child health . Lancet . 2018 ; 391 ( 10129 ): 1538 – 48 .

World Health Organization . The WHO Caregiver Skills Training programme . Available from: https://www.who.int/mental_health/maternal-child/PST/en/ .

Salomone E , Pacione L , Shire S et al. . Development of the WHO Caregiver Skills Training Program for developmental disorders or delays . Front Psychiatry . 2019 ; 10 : 769 .

Philip S , Chaturvedi SK. Musings on task shifting in mental health . J Psychosoc Rehabil Ment Health . 2018 ; 5 ( 2 ): 103 – 7 .

Hamdani SU , Akhtar P , Zill EH et al. . WHO Parents Skills Training (PST) programme for children with developmental disorders and delays delivered by family volunteers in rural Pakistan: study protocol for effectiveness implementation hybrid cluster randomized controlled trial . Glob Ment Health (Camb) . 2017 ; 4 : e11 .

World Health Organization. Training parents to transform children's lives. Available from: https://www.who.int/mental_health/maternal-child/PST/en/ .

Masulani-Mwale C , Kauye F , Gladstone M et al. . Development of a psycho-social intervention for reducing psychological distress among parents of children with intellectual disabilities in Malawi . PLoS One . 2019 ; 14 ( 2 ): e0210855 .

Benfer KA , Novak I , Morgan C et al. . Community-based parent-delivered early detection and intervention programme for infants at high risk of cerebral palsy in a low-resource country (Learning through Everyday Activities with Parents (LEAP-CP): protocol for a randomised controlled trial . BMJ Open . 2018 ; 8 ( 6 ): e021186 .

LEAP-CP Symposium. Early detection and early intervention for children at risk of CP in low-middle income countries. Available from: https://cparf.org/sstposts/StoryId1579066413321 .

Zuurmond M , O'Banion D , Gladstone M et al. . Evaluating the impact of a community-based parent training programme for children with cerebral palsy in Ghana . PLoS One . 2018 ; 13 ( 9 ): e0202096 .

Nampijja M , Webb E , Nanyunja C et al. . Randomised controlled pilot feasibility trial of an early intervention programme for young infants with neurodevelopmental impairment in Uganda: a study protocol . BMJ Open . 2019 ; 9 ( 10 ): e032705 .

Duttine A , Smythe T , Calheiro de Sá MR et al. . Development and assessment of the feasibility of a Zika family support programme: a study protocol . Wellcome Open Res . 2019 ; 4 : 80 .

Kuper H , Smythe T , Duttine A . Reflections on health promotion and disability in low and middle-income countries: case study of parent-support programmes for children with congenital Zika syndrome . Int J Environ Res Public Health . 2018 ; 15 ( 3 ): 514 .

Sa MRC , Vieira ACD , Castro BSM et al. . [The need to act together in every way possible: inter-sector action in health and education for children living with the congenital Zika syndrome] . Cad Saude Publica . 2019 ; 35 ( 12 ): e00233718 .

Smythe T , Duttine A , Vieira ACD et al. . Engagement of fathers in parent group interventions for children with congenital Zika syndrome: a qualitative study . Int J Environ Res Public Health . 2019 ; 16 ( 20 ): 3862 .

Rahman A , Divan G , Hamdani SU et al. . Effectiveness of the parent-mediated intervention for children with autism spectrum disorder in south Asia in India and Pakistan (PASS): a randomised controlled trial . Lancet Psychiatry . 2016 ; 3 ( 2 ): 128 – 36 .

Smythe T , Adelson JD , Polack S . Systematic review of interventions for reducing stigma experienced by children with disabilities and their families in low- and middle-income countries: state of the evidence . Trop Med Int Health . 2020 ; 25 : 508 – 24 .

Completed clinical trials with a focus on developmental outcomes

• child development
• developmental disabilities
• disabled children
• early intervention (education)

Email alerts

Citing articles via.

• Contact RSTMH
• Recommend to your Library

Affiliations

• Online ISSN 1876-3405
• Copyright © 2024 Royal Society of Tropical Medicine and Hygiene
• About Oxford Academic
• Publish journals with us
• University press partners
• What we publish
• New features  
• Open access
• Institutional account management
• Rights and permissions
• Get help with access
• Accessibility
• Advertising
• Media enquiries
• Oxford University Press
• Oxford Languages
• University of Oxford

Oxford University Press is a department of the University of Oxford. It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide

• Copyright © 2024 Oxford University Press
• Cookie settings
• Cookie policy
• Privacy policy
• Legal notice

This Feature Is Available To Subscribers Only

Sign In or Create an Account

This PDF is available to Subscribers Only

For full access to this pdf, sign in to an existing account, or purchase an annual subscription.

• Open access
• Published: 09 June 2023

Screen time and speech and language delay in children aged 12–48 months in UAE: a case–control study

• Salwa Salem Al Hosani   ORCID: orcid.org/0000-0003-2323-0768 1 ,
• Ebtihal Ahmed Darwish 2 ,
• Sona Ayanikalath 3 ,
• Ruqaya Saeed AlMazroei 4 ,
• Radwha Saeed AlMaashari 4 &
• Amer Tareq Wedyan 5  

Middle East Current Psychiatry volume  30 , Article number:  47 ( 2023 ) Cite this article

10k Accesses

1 Citations

1 Altmetric

Metrics details

To identify impact of screen time on speech and language development in preschool children. There has been an alarming increase in the use of electronic devices among preschool children despite their potential adverse effects on childhood development during this crucial time of rapid brain development. Prior research has identified the potential risk and benefits of traditional screen media such as television and video. Our findings will help your readers understand the potential impact of screen time between traditional and new technologies. The case–control study included 227 new patients with language delay and 227 normal children, aged 12–48 months male and female. Language delay was diagnosed by reviewing language milestones and Receptive-Expressive Emergent Language Test (RELT). Television viewing variables and child/parental characteristics between both groups were interviewed. Odds ratio was used to establish whether screen time using either electronic devices (smartphones and tablets) or TV viewing has an effect on speech and language development. Chi-square test was used to establish the association between categorical variable 95%. A P -value less than 0.05 was considered to be statistically significant.

A total of 90.3% of those who have speech and language developmental delay use electronic devices. Odd ratio is found to be statistically significant.

The factors that predict language delays include use of and early onset of using an electronic device at 12–24 months of age. The factors that were less likely associated with language delays are watching TV and the mother’s education level.

Introduction

Language development begins in utero, and the first cry after birth is considered the first means of communicating needs that an infant has. The amount of caregiver response will draw the attachment relationship for normal social and emotional development. However, speech and language development milestones are a sensitive and critical period when language is rapidly acquired and environmental stimulation and linguistic input from caregivers aid language acquisition. We live in a digital era, and exposure to visual and verbal media stimulation encompasses language development, and the rapid advances in device manufacturing and diversity of devices and applications have led to a dramatic increase in the possession and the use of portable devices.

Screen time is the time spent using a device such as a computer, television, iPad, or mobile device. Exposure to digital media in the last decade is increasing considering the advancement in technologies. Since the 1970, the age at which the child first begin to exposed and interact with media screen has been lowered from 4 years to 4 months making children born as digital naïve [ 1 ].

Exposure to digital media is increasing and has led to concerns about the impact on child development. There has been an increasing interest in the link between media viewing and language development. Therefore, it is important to understand the relationship between screen time use and the language development of preschool children.

Furthermore, the American Academy of Pediatrics (AAP) guidelines stated that children below the age of 2 years should not have any screen exposure, and screen time of 3 h per day is considered excessive among children aged 2–5 years [ 2 ].

Excessive screen media use according to the recommendation of WHO was defined as follows: children aged 0–12 months exposed to media devices or children aged 2–7 years exposed to screen media use more than 1 h/day. Furthermore, UK guidelines set out by the National Institute for Clinical Excellence (NICE) recommend no more than 2 h of leisure screen time per day for children of any age.

However, families continue to exceed the hours of viewing recommended by the American Academy of Paediatrics (AAP). Gupta et al. have highlighted in a review that there is a high prevalence of excessive screen time among under-five5 children in the high- and middle-income countries. There are several health impacts of excessive screen time including emotional, sleep, and behavioral issues impairing the growth and cognitive development of under-5 children [ 3 ].

Systematic review by Chao Li et al. confirms that excessive screen time, mainly engaging in more than 2 h of daily screen time, has various health indicators in physical, behavioral, and psychosocial aspects [ 4 ].

The consequences of excessive screen time have garnered considerable attention in research, health, and public debate over the past decade [ 5 ]. This has led to an increasing interest by pediatric societies in the link between media viewing and language development. Therefore, understanding the relationship between screen time and language development of preschool children is important within child health and development.

Nathanson et al. found that TV viewing has a positive effect on the linguistic and cognitive development of children [ 6 ]. There have also been reports that it has a harmful effect on cognitive abilities, including attention and reading [ 6 , 7 , 8 , 9 , 10 , 11 ].

Zimmerman et al. have reported positive parental perception of screen time might explain early exposure to screen. Parents believed that screening media (e.g., television, DVD, video), if appropriately used, is educational and useful to their child’s brain development [ 12 ]. Dutch et al. published a longitudinal study of 119 Hispanic toddlers and found that families overwhelmingly believed (84%) that baby DVD and educational TV shows have a positive effect on their children’s learning [ 13 ].

Kabali also found that most children had their own tablet by age 4, which is a remarkable uptake of technology considering that in 2013, ownership of mobile devices among children aged 0 to 8 years was in the single digits nationwide [ 14 ].

Chonchaiya and Pruksananonda found that children who started watching television at lesser than 12 months of age and watched television more than 2 h per day were approximately six times more likely to have language delays [ 15 ]. Population-based studies continue to show negative impact between excessive television viewing in early childhood (0–2) years and cognitive development [ 16 , 17 , 18 ], language development [ 12 , 19 ], and social/emotional delays [ 20 , 21 , 22 , 23 ]. These delays are likely secondary to decreases in parent-child interactions when the television is on, as well as decreased family functioning in households with high media use [ 24 ].

Nathanson et al. found an earlier age of media use onset, and greater cumulative hours of media use are all significant independent predictors of poor executive functioning in preschoolers [ 6 ].

However, there have also even been reports that there is no significant correlation between TV watching time and the linguistic ability of Thai infants and toddlers [ 25 ]. Therefore, further studying the impact of TV viewing is needed.

Epidemiological studies that can represent the general population are required. We live in a digital era where electronic devices are quickly becoming the preferred media choice for children because of their screen size, mobility, and ability to stream content and interactive capability [ 14 ]. Hence, it is important to study the impact of early adoption and use of those devices on children development.

However, research on screen time using other electronic devices and speech and language delay has lagged behind the adoption of these technologies. This study, as far as we know, is the first study to identify the impact of screen time including TV, smartphones, and tablets on speech language development in children aged 12–48 months in UAE.

This study addresses three elements in studying the association between screen time and delayed language development: (a) both TV viewing and other electronic devices (smartphone and tablets), (b) age of first exposure to the screen, and (c) association with other variables including parent’s education, the onset of using electronic devices, child ownership of devices, the onset of TV viewing, TV viewing hours per day, and the child and parent interactions.

Study design

This is a case-control study comparing the screen time use in children with speech and language delays to that of typically developing children.

Participants

From January 2018 to January 2019, children, aged between 12 and 48 months old with language delay who came for the first time to pediatric clinic were assessed by clinical history taking, and performing physical examination, head circumference measurement, observation of child’s play, language, cognitive ability, sociability, repetitive, hyperactive behavior, joint attention, and hearing screening were performed by developmental pediatricians. We excluded participants who had language delay due to ASD, known genetics causes, hearing problems, cerebral palsy, neurological disorder, and global developmental delay. Therefore, 227 new patients with language delay were included in the study. A child and adolescent psychiatrist and speech and language pathologist interviewed caregivers during the next visit in order to complete the data. Parental consent was obtained from all participants.

Cases were age and gender matched with 227 typically developing children control subjects who were recruited from the Well Baby Clinic in Ambulatory Health Services.

The questionnaire consisted of questions about the child age and gender, parents martial status, education level and mother employment, child screen time (age child first starts watching TV and using electronic devices, number of hours spend in screen time (TV viewing/electronic devices), child favorite program/apps, and lastly parent–child quality time spent (questionnaire in Appendix).

Diagnosis of delayed language development

Children were diagnosed with language delays based on the Receptive-Expressive Emergent Language Test and early signs of language and speech disorders. A delay of 25% or greater by age 16–24 months is considered important. For example, a 24-month-old child who functions as a typical 18 month old is considered to have a clinically important language delay [ 26 ].

Data analysis

Data were analyzed using SPSS 21.0. Categorical data are expressed as the frequency with the corresponding percentage. A chi-squared test established the difference between categorical variables. An odds ratio established whether the screen playtime using either an iPad or watching TV (exposure) affects speech and language development. A P -value of less than 0.05 is considered statistically significant for all tests.

Odds ratio analyses compared the probability that children with and without language delay had been exposed to the risk factors defined above. To determine the relationship between all significant risk variables, categorical data were expressed as the frequency with the corresponding percentage. For all binary risk variables, odds ratios were estimated using unconditional logistic regression. Each run of this statistical analysis provided a chi-squared test result. Multivariate logistic regression modeling was performed to determine the relationship between all significant risk variables and language development. Given the large number of variables, the analyses were adjusted for multiple comparisons by multivariate logistic regression modeling. Adjusted odds ratios and their corresponding 95% confidence intervals were calculated from the logistic regression model.

Our sample included 277 children who had language delays and 277 controls with normal language development. Both groups were age and gender matched. In our sample, 37.0% of the children were younger than 24 months of age, 36.1% were 24 months old or older, and 26.9% were 37 months old or older. There was a relatively high proportion of males (54.2%) in both the case and control groups. The distribution of UAE nationals (37.9%), non-UAE national Arabs (28.6%), and non-UAE national non-Arabs (33.5%) was consistent in the control group. However, this distribution was uneven in the case group ( P -value < 0.001): 49.3% of the subjects were UAE nationals, 35.2% non-UAE national Arabs, and 15.4% were non-UAE national non-Arabs. Married parents accounted for 99.6% of the control group compared to 93.8% of the cases. Divorced/separated/widowed parents were more common among cases than controls (6.2% vs. 0.4%), a statistically significant difference ( P -value < 0.001). Table 1 shows the sociodemographic data of the case and control groups.

Table 2 shows the number and percentage of individual factors in the case and control groups, along with the binary logic regression and crude odds ratio and the corresponding confidence interval. Significant differences existed between the two language groups when the confidence intervals for the odds ratios did not include an odds ratio of 1.0.

The following factors are significantly correlated (statistically and clinically) with language delay among children: those who use a device [ OR 6.82 (4.09–11.40), P -value < 0.001], early onset of using electronic devices (12–24 months) ( OR 8.22 (1.71–39.55), P -value = 0.009), and fewer TV viewing hours per day, at 3 to 4 h and 5 to 8 h ( OR 2.67 (1.65–4.32), P -value < 0.001) and ( OR 4.93 (1.90–12.79), P = 0.001), respectively. The following factors were protective against developing a speech and language delay: mother’s education level of master’s degree or PhD ( OR 0.1 (0.01–0.93), P -value = 0.043) and watching TV ( OR 0.32 (0.21–0.49), P < 0.001).

Although spending time with children was not found to be a significant factor in reducing speech delays, spending 1 to 4 h a day with children protects against speech delays [for 1 to 2 h, OR = 0.379 (0.21–0.67), P = 0.001; for 3 to 4 h, OR = 0.355 (0.20–0.62), P < 0.001]. No significant association was found between the father’s education level and possession of a device.

Table 3 shows multiple logistic regression with an adjusted odds ratio and the 95% confidence interval. The factors that could predict a language delay include owning a device, early onset of using electronic devices, and total TV viewing hours per day. Children who own a device are at an increased risk of language development problems ( OR = 3.94 (1.97–7.84), P -value < 0.001). The late-onset use of electronic devices (at 25–36 months of age) has a positive influence on language development compared to early-onset use (at 12–24 months of age) ( OR = 0.32 (0.13–0.82), P -value = 0.017). Children who watch 3 to 4 h of television per day are at increased risk of language problems ( OR = 3.21, 95% CI = 1.66–6.17, P -value < 0.001).

Prior studies have noted the importance of decreasing screen time. To date, most of the studies on children’s screen time have focused on the traditional screen media, such as television and video. In fact, television has dominated screen time studies for the past decade. However, a focus on portable electronic media is needed in light of the pervasive increase in access and the use of modern mobile devices. This study addresses three elements in studying the association between screen time use and delayed language development: (a) both TV viewing and other electronic devices (smartphone and tablets), (b) age of first exposure to screens, and (c) association with other variables, including parent’s education, the onset of using electronic devices, child ownership of devices, the onset of TV viewing, TV viewing hours per day, and child-parent interactions.

Our data indicate that those who use electronic devices have a higher risk of delayed speech and language development ( OR  = 6.83). These results agree with other studies [ 18 , 19 ].

Dutch et al. found in both cross-sectional and longitudinal analyses that children who watched more than 2 h of television per day had increased odds of low communication scores [ 19 ]. In a longitudinal analysis of 259 mother-infant dyads participating in a long-term study related to early child development with unadjusted and adjusted analyses, Tomopoulos et al. found that the duration of media exposure at age 6 months was associated with lower cognitive development at age 14 months (unadjusted: r = −0.17, P < 0.01; adjusted: β = −0.15, P = 0.02) and lower language development ( r = −0.16, P < 0.01; β = −0.16, P < 0.01) [ 18 ].

We found that 90.3% of those who have speech and language development delay use electronic devices. A recent study (van den Heuvel et al.) found a significant association between mobile device use and parent-reported expressive speech delay in 18-month-old children. Each additional 30-min increase in daily mobile media device use was associated with an increased odds of parent-reported expressive speech delay ( OR 2.33, 95% confidence interval, 1.25–4.82). No relationship was observed between mobile media device use and other parent-reported communication delays [ 27 ].

TV viewing and speech and language developmental delay have very contradictory results; this study found that TV viewing is reducing the risk for speech and language developmental delay ( OR = 0.32): 40.5% of children who had speech and language developmental delays do not watch TV. However, previous research showed no association between time spent on television viewing (≥ 2 h per day) and delayed language development at 2 years old [ 25 ]. Other work found similar results in a prospective cohort study: Television viewing in infancy does not seem to be associated with language or visual motor skills at 3 years of age [ 17 ]. However, such conclusions must be taken cautiously because many other studies found a high association [ 12 , 13 , 15 , 16 , 18 , 24 , 28 ].

The results on age at first screen exposure are surprising in light of the mounting evidence on the lack of benefits and potentially negative impact of media exposure in young children.

Our study found that 88.3% of children who were younger than 24 months old were first exposed to screen, which agrees with prior work [ 24 , 27 , 28 , 29 , 30 ]. A possible explanation for the early age of exposure might be a positive parental perception of screen time. This is beyond the scope of our study, but other work assessed parental perceptions on TV viewing and found positive parental perceptions on television viewing toward children’s development [ 25 ].

One interesting finding is in the area of child ownership of the devices. However, this study did not find an association between owning a device and developmental language delay: 63.9% of children in the case group who use electronic devices have their own device versus 70.2% in the control group. This result is consistent with the literature [ 14 ]: the number of households who own tablets doubled since 2013, reflecting the pervasive nature of digital technology.

This study has been unable to demonstrate whether gender variables are associated with speech and language developmental delay. Chonchaiya and Pruksananonda found that boys were more likely to have language delays ( OR = 3.98) [ 27 ]. Ruangdaraganon et al. also found a similar association between male gender and delayed language development ( OR = 6.9; 95% CI = 1.5–31.3) [ 25 ].

This study found a positive influence on language development for mothers with a master’s degree or PhD ( OR = 0.10), but no association was found with the father’s education level. This result seems to be consistent with other research [ 30 ] showing that children of high school graduates were more than twice as likely as children of college graduates to watch more television than AAP recommended ( OR = 2.3; 95% CI = 1.4–3.9, P = 0.002). However, Chonchaiya and Pruksananonda found that the father’s education (≤ at primary school level) was strongly correlated to predict language delays in children ( OR = 4.91) [ 15 ].

Limitations

Its retrospective design is a limitation of this case-control study. There might be interviewer bias and limitations in the human recall. There was also a lack of measures to determine other important variables, including temperament, interactive activity, and parenting style.

Despite these limitations, however, our study has several strengths. It is the first study to identify the impact of screen time including TV, smartphones, and tablets on speech language development in children aged 12–48 months in UAE. This contribution is important, given the sample size from a diverse multiethnic population, which might improve the generalizability of our findings.

Future direction

A longitudinal prospective study is needed to examine the impact of screen time on speech and language development in children and for better understanding of the possible causality.

The main goal of this study was to determine the impact of screen time via electronic devices or television on speech and language development and the factors that predict language delays. Overall, this study supports the notion that there is a relationship between early onset before the age of 2 years and high frequency of screen time and delayed language in preschool children. The factors that predict speech and language delay are using a device and early onset of the electronic device. However, the factors found to less likely associated with speech and language delay are watching TV and the mother having a master’s degree or PhD.

Availability of data and materials

Data available on request from the authors.

Abbreviations

Receptive-Expressive Emergent Language Test

American Academy of Pediatrics

National Institute for Clinical Excellence

Radesky J, Christakis D (2016) Increased screen time. Pediatr Clin North Am 63(5):827–839

Article   PubMed   Google Scholar  

Reid Chassiakos Y, Radesky J, Christakis D, Moreno M, Cross C (2016) Children and adolescents and digital media. Pediatrics 138(5):e20162593

Kaur N, Gupta M, Malhi P, Grover S (2019) Screen time in under-five children. Indian Pediatr 56(9):773–788

Li C, Cheng G, Sha T, Cheng W, Yan Y (2020) The relationships between screen use and health indicators among infants, toddlers, and preschoolers: a meta-analysis and systematic review. Int J Environ Res Public Health 17(19):7324

Article   PubMed   PubMed Central   Google Scholar  

Madigan S, Browne D, Racine N, Mori C, Tough S (2019) Association between screen time and children’s performance on a developmental screening test. JAMA Pediatr 173(3):244

Nathanson A, Aladé F, Sharp M, Rasmussen E, Christy K (2014) The relation between television exposure and executive function among preschoolers. Dev Psychol 50(5):1497–1506

Christakis D, Zimmerman F, DiGiuseppe D, McCarty C (2004) Early television exposure and subsequent attentional problems in children. Pediatrics 113(4):708–713

Hancox R, Milne B, Poulton R (2005) Association of television viewing during childhood with poor educational achievement. Arch Pediatr Adolesc Med 159(7):614

Lillard A, Peterson J (2011) The immediate impact of different types of television on young children’s executive function. Pediatrics 128(4):644–649

Linebarger D, Barr R, Lapierre M, Piotrowski J (2014) Associations between parenting, media use, cumulative risk, and children’s executive functioning. J Dev Behav Pediatr 35(6):367–377

Zimmerman F, Christakis D (2007) Associations between content types of early media exposure and subsequent attentional problems. Pediatrics 120(5):986–992

Zimmerman F, Christakis D, Meltzoff A (2007) Associations between media viewing and language development in children under age 2 years. J Pediatr 151(4):364–368

Duch H, Fisher E, Ensari I, Font M, Harrington A, Taromino C et al (2013) Association of screen time use and language development in Hispanic toddlers. Clin Pediatr 52(9):857–865

Article   Google Scholar  

Kabali H, Irigoyen M, Nunez-Davis R, Budacki J, Mohanty S, Leister K et al (2015) Exposure and use of mobile media devices by young children. Pediatrics 136(6):1044–1050

Chonchaiya W, Pruksananonda C (2008) Television viewing associates with delayed language development. Acta Paediatr 97(7):977–982

Lin L, Cherng R, Chen Y, Chen Y, Yang H (2015) Effects of television exposure on developmental skills among young children. Infant Behav Dev 38:20–26

Schmidt M, Rich M, Rifas-Shiman S, Oken E, Taveras E (2009) Television viewing in infancy and child cognition at 3 years of age in a US cohort. Pediatrics 123(3):e370–e375

Tomopoulos S, Dreyer B, Berkule S, Fierman A, Brockmeyer C, Mendelsohn A. Infant Media Exposure and Toddler Development. Arch Pediatr Adolesc Med. 2010;164(12). https://doi.org/10.1001/archpediatrics.2010.235

Duch H, Fisher E, Ensari I, Harrington A (2013) Screen time use in children under 3 years old: a systematic review of correlates. Int J Behav Nutr Phys Act 10(1):102

Conners-Burrow N, McKelvey L, Fussell J (2011) Social outcomes associated with media viewing habits of low-income preschool children. Early Educ Dev 22(2):256–273

Hinkley T, Verbestel V, Ahrens W, Lissner L, Molnár D, Moreno L et al (2014) Early childhood electronic media use as a predictor of poorer well-being. JAMA Pediatr 168(5):485

Pagani L, Fitzpatrick C, Barnett T, Dubow E. Prospective Associations Between Early Childhood Television Exposure and Academic, Psychosocial, and Physical Well-being by Middle Childhood. Arch Pediatr Adolesc Med. 2010;164(5). https://doi.org/10.1001/archpediatrics.2010.50

Tomopoulos S, Dreyer B, Valdez P, Flynn V, Foley G, Berkule S et al (2007) Media content and externalizing behaviors in Latino toddlers. Ambul Pediatr 7(3):232–238

Christakis D, Gilkerson J, Richards J, Zimmerman F, Garrison M, Xu D et al (2009) Audible television and decreased adult words, infant vocalizations, and conversational turns. Arch Pediatr Adolesc Med 163(6):554

Ruangdaraganon N, Chuthapisith J, Mo-suwan L, Kriweradechachai S, Udomsubpayakul U, Choprapawon C. Television viewing in Thai infants and toddlers: impacts to language development and parental perceptions. BMC Pediatr. 2009;9(1). https://doi.org/10.1186/1471-2431-9-34

Feldman H (2005) Evaluation and management of language and speech disorders in preschool children. Pediatr Rev 26(4):131–142

van den Heuvel M, Ma J, Borkhoff C, Koroshegyi C, Dai D, Parkin P et al (2019) Mobile media device use is associated with expressive language delay in 18-month-old children. J Dev Behav Pediatr 40(2):99–104

Byeon H, Hong S (2015) Relationship between television viewing and language delay in toddlers: evidence from a Korea National Cross-Sectional Survey. PLoS ONE 10(3):e0120663

Chang H, Park E, Yoo H, Lee J, Shin Y (2018) Electronic media exposure and use among toddlers. Psychiatry Investig 15(6):568–573

Certain L, Kahn R (2002) Prevalence, correlates, and trajectory of television viewing among infants and toddlers. Pediatrics 109(4):634–642

Download references

Acknowledgements

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Author information

Authors and affiliations.

Saudi Board Child and Adolescent Fellowship, Child and Adolescent Psychiatry Department, Sheikh Khalifa Medical City, Abu Dhabi, UAE

Salwa Salem Al Hosani

Ethraa for Consultation and Training, Dubai Medical College, Dubai, UAE

Ebtihal Ahmed Darwish

Speech & Language Pathology, Physical Medicine and Rehabilitation Department, Sheikh Khalifa Medical City, Abu Dhabi, UAE

Sona Ayanikalath

Ambulatory Health Service, Abu Dhabi, UAE

Ruqaya Saeed AlMazroei & Radwha Saeed AlMaashari

Speech & Language Therapy, American Center, Abu Dhabi, UAE

Amer Tareq Wedyan

You can also search for this author in PubMed   Google Scholar

Contributions

SS, ED, SA, RS, RM, and AW conceived and designed the study, conducted research, provided research materials, and collected and organized data. SS and EA analyzed and interpreted data. SS, ED, and SA wrote initial and final draft of article. All authors have read and approved final manuscript.

Corresponding author

Correspondence to Salwa Salem Al Hosani .

Ethics declarations

Ethics approval and consent to participate.

The Research Ethics Committee of Sheikh Khalifa Medical City provided ethical approval (REC-07.12.2017 [RS509]). Written informed consent was obtained from the parents.

Consent for publication

Parents signed informed consent regarding publishing their data.

Competing interests

The authors declare that they have no competing interests.

Additional information

Publisher's note.

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Additional file 1:, additional file 2:, rights and permissions.

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ .

Reprints and permissions

About this article

Cite this article.

Al Hosani, S.S., Darwish, E.A., Ayanikalath, S. et al. Screen time and speech and language delay in children aged 12–48 months in UAE: a case–control study. Middle East Curr Psychiatry 30 , 47 (2023). https://doi.org/10.1186/s43045-023-00318-0

Download citation

Received : 02 March 2023

Accepted : 11 April 2023

Published : 09 June 2023

DOI : https://doi.org/10.1186/s43045-023-00318-0

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Speech and language developmental delay
• 12–48 months
• Screen time

EMT en Español Para Autismo : A Collaborative Communication Intervention Approach and Single Case Design Pilot Study

• Original Article
• Open access
• Published: 13 April 2024

Cite this article

You have full access to this open access article

• Natalie S. Pak   ORCID: orcid.org/0000-0003-1032-5813 1   nAff2 ,
• Tatiana Nogueira Peredo   ORCID: orcid.org/0000-0002-2558-6736 1 ,
• Ana Paula Madero Ucero 1 &
• Ann P. Kaiser   ORCID: orcid.org/0000-0001-9406-685X 1  

74 Accesses

Explore all metrics

The primary purpose of the current pilot study was to test the effects of an adapted and collaborative intervention model with a systematic teaching approach on Latina Spanish-speaking caregivers’ use of EMT en Español Para Autismo strategies with their young children on the autism spectrum. A multiple baseline across behaviors single case design was replicated across two dyads. A series of family interviews and a direct therapist-child intervention phase supported individualization of the intervention. Families were provided speech generating devices as part of their children’s intervention protocol. Caregivers were taught to use EMT en Español Para Autismo strategies with aided language input. Strategies included contingent target-level and proximal target-level language modeling, linguistic expansions, and communication elicitations. Secondary variables measured included generalization of strategy use to unsupported interactions and at a 2-month follow-up, child communication outcomes, and social validity. There was a strong functional relation for one dyad between the adapted and collaborative intervention and caregiver use of EMT strategies. The functional relation was weakened by behavioral covariation for the other dyad. Children increased the quantity and diversity of their communication during the study. Caregivers generalized their use of most EMT strategies and reported most aspects of the approach to be socially valid. The current study provides an initial demonstration of an effective model for adaptation and individualization of naturalistic developmental behavioral interventions for Latino Spanish-speaking families with children on the autism spectrum.

Avoid common mistakes on your manuscript.

Early diagnoses of autism are increasingly prevalent in the United States, affecting an estimated 1 in 46 preschool-aged children across all races and ethnicities and 1 in 34 Hispanic children (Shaw et al., 2023 ). Latino Spanish-speaking (LSS) families face multiple systemic barriers to accessing early intervention for their young children on the autism spectrum and are more likely than non-Latino White children to receive no or inadequate services (Stahmer et al., 2019 ; Zuckerman et al., 2017 ). Caregiver-mediated (or implemented) interventions have been shown to positively influence children’s language outcomes for monolingual English-speaking children (Heidlage et al., 2020 ; Roberts et al., 2019 ). In this article, caregiver refers to children’s primary caregivers in the home (e.g., parent, other family member). Importantly, LSS caregivers report a desire to be partners in the delivery of intervention for their children on the autism spectrum, and they report children’s communication skills to be a high priority for intervention (DuBay et al., 2018 ). In a scoping review of the literature, DuBay ( 2022 ) identified 19 studies investigating culturally adapted caregiver-mediated interventions for Latino families and children on the autism spectrum. Only two involved interventions specifically targeting children’s early communication skills (Gevarter et al., 2022 ; Meadan et al., 2020 ). To reduce the disparities in early intervention services, more culturally and linguistically adapted caregiver-implemented language interventions for children on the autism spectrum are necessary (Martinez-Torres et al., 2021 ).

EMT en Español

EMT en Español is a Spanish language, caregiver-mediated adaptation of Enhanced Milieu Teaching (EMT) that has been tested with LSS families and their preschool children with language delays (Peredo et al., 2018 , 2022 ). EMT en Español and EMT are naturalistic developmental behavioral interventions (NDBIs) which involve use of behavioral principles to teach developmentally appropriate communication skills in naturalistic settings (Schreibman et al., 2015 ). Among NDBIs, EMT is uniquely focused on improving child language and communication development and has been demonstrated to be effective for children with a variety of etiologies of language impairments (Kaiser & Hampton, 2017 ; Kaiser et al., 2021 ; Roberts & Kaiser, 2015 ; Wright et al., 2013 ).

Cultural and linguistic adaptations to interventions such as EMT may be linked to dimensions of the ecological validity model (EVM), a framework designed specifically for adapting interventions to be more culturally sensitive for Spanish-speaking families (Bernal et al., 1995 ). According to this model, there are eight dimensions that can influence the cultural consistency of an intervention for a given client or community. These dimensions are language, persons, metaphors, content, concepts, goals, methods, and context. Adaptations to EMT en Español have addressed several dimensions of the EVM (see Peredo et al., 2018 , and Peredo et al., 2022 , for more details). For example, rather than simply following the child’s lead, caregivers are coached to first comment on the child’s focus of interest within adult-directed activities. This addresses the dimensions of content and concepts. Additional adaptations have been implemented in the procedures and delivery of intervention (method). For example, interventionists speak Spanish with families (language, persons) and deliver intervention in homes during familiar and/or valued routines (context, goals) (Peredo et al., 2018 , 2022 ).

These adaptations have been tested in two studies. Using a single-case experimental design, Peredo et al. ( 2018 ) demonstrated that three Spanish-speaking mothers from Mexico applied EMT en Español strategies with their preschool children with developmental language disorders when the mothers were taught using a systematic training approach (Teach-Model-Coach-Review or TMCR; Roberts & Kaiser, 2015 ). The mothers generalized use of most EMT en Español strategies to a novel context at home and reported using the strategies additional times throughout the week. Results for LSS caregivers receiving systematic instruction to use EMT en Español were also positive in a small randomized trial (Peredo et al., 2022 ). Twenty LSS caregivers and their children with language delays (age range 29–43 months) were randomized to a 24-session intervention at home ( n  = 10) or waitlist control group ( n  = 10). There were statistically significant intervention effects for caregivers’ use of matched turns, expansions, and linguistic targets ( d  = 1.24–1.90).

EMT en Español Para Autismo

The current study was a pilot investigation of EMT en Español Para Autismo , an adaptation of EMT en Español aiming to address the specific needs of LSS families of children on the autism spectrum. Prior to the study, four LSS primary caregivers of children on the autism spectrum provided feedback on EMT en Español materials in a focus group format. The focus group caregivers were positive about the materials, reported the materials were relevant to them, and noted areas in which they would benefit from more information. This feedback was combined with clinical expertise and experience from previous EMT studies with children on the autism spectrum (e.g., Hampton et al., 2021 ) to make adaptations for the current study.

The first adaptation was to include information to expand caregivers’ knowledge about autism. Focus group findings were consistent with reports that LSS parents of children on the autism spectrum often begin evaluation and treatment services with limited knowledge about autism, which can lead to self-blame for their children’s challenges (Chlebowski et al., 2018 ; Zuckerman et al., 2017 ). The second adaptation was to teach caregivers individualized strategies for promoting child engagement in interactions and activities, which was a need reported by focus group caregivers. Strategies to support children’s engagement have been reported in previous EMT and EMT en Español studies. These include: (a) arranging the setting to support children’s contact with activities and to minimize distractions, (b) choosing high interest toys, (c) sitting at the child’s level, (d) scaffolding play and engagement, (e) shifting activities when children lose interest, and (f) specific behavior supports such as use of timers and first-then charts (Hampton et al., 2019 , 2021 ; Peredo et al., 2018 , 2022 ). In the current pilot study, many of the same strategies were employed; however, the selected strategies were individualized based on family concerns and preferences expressed throughout the study and based on an initial phase of therapist-delivered child intervention. The third adaptation was to provide access to high-tech augmentative and alternative communication (AAC) for children who began the study with little to no expressive spoken language. AAC, which includes various modes of communication used instead of or in addition to speech, may be important for young children at high risk of delayed development of spoken language (Beukelman & Light, 2020 ). Specifically, children received speech-generating devices (SGDs) in the form of iPad minis with the Proloquo2Go communication app (AssistiveWare, 2023 ). Spanish and English were both available on the Proloquo2Go app; Spanish vocabulary was primarily used during the study for language modeling, with vocabulary selections made collaboratively with each family. Families were coached to model language with both the SGD and speech while delivering EMT en Español Para Autismo with their children (i.e., aided AAC modeling; Beukelman & Light, 2020 ).

The primary purpose of this pilot study was to assess the effects using a systematic teaching approach to teach LSS caregivers of children on the autism spectrum to implement EMT en Español Para Autismo . We posed the following research questions: (a) Do LSS caregivers of children on the autism spectrum use EMT en Español Para Autismo strategies during coached caregiver-child interactions when taught using the TMCR approach? (b) Do LSS caregivers use EMT en Español Para Autismo strategies during caregiver-child interactions without coaching during and after the intervention period when taught using the TMCR approach? (c) Do LSS children on the autism spectrum increase the frequency and diversity of their communication when their caregivers are taught EMT en Español Para Autismo strategies? (d) How do caregivers perceive the intervention approach?

Experimental Design

The experimental design was a single-case multiple baseline design across behaviors replicated across caregiver-child dyads (Baer et al., 1968 ). In multiple baseline designs across behaviors, participants are taught functionally similar but independent behavior sets with a time-lagged introduction of intervention for each behavior set (Gast et al., 2018 ). In the current study, the behavior sets (i.e., tiers of the intervention) were sets of EMT en Español Para Autismo strategies: (a) contingent target-level language modeling, (b) contingent higher-level language modeling including proximal targets and expansions, and (c) communication elicitation strategies (see Table  1 for definitions). Environmental arrangement strategies to support child engagement and communication (e.g., eliminating distractions, using timers if needed to increase duration of child play, reducing questions and instructions) were taught in Tier 1 along with target level language models. The sequence of study phases and activities is shown in Fig.  1 .

Flowchart of study activities. The order of phases is pre-intervention, Tier 1 intervention, Tier 2 intervention, Tier 3 intervention, and post-intervention. Within each intervention tier, there is an interview activity, workshop, TMCR intervention, and a generalization session. Boxes with square corners indicate activities that were part of the experimental design

The study phases were (a) pre-intervention, (b) teaching caregivers three sets of EMT strategies using the TMCR approach across tiers of the intervention design, and (c) post-intervention assessment. The pre-intervention phase included three initial baseline sessions with the caregiver, eight sessions of direct therapist delivery of the intervention to the child, and a second set of three baseline sessions. Measuring caregiver baseline performance prior to and after therapist-child intervention was included to detect any change in caregiver use of strategies from watching the therapist use the strategies before the TMCR intervention. The experimental design was implemented in the second set of baseline sessions and the planning, teaching, and coaching components of the intervention during the TMCR phase (boxes with square corners in Fig.  1 ). The post-intervention phase included a caregiver exit interview immediately after intervention and a follow-up observation 2 months later.

Recruitment

Caregiver-child dyads who met the following criteria and wished to participate in the study were recruited: (a) Spanish was the primary language spoken in the home; (b) the child had an autism diagnosis or flagged on an autism screening measure; (c) the child was 30–42 months old at the beginning of intervention; (d) the child had a Total Language Score at least 1.5 SD below the mean standardized score on the Preschool Language Scales, 5th edition Spanish (PLS-5 Spanish; Zimmerman et al., 2012 ); and (e) at least one primary caregiver was willing and able to participate in the intensive intervention for several months. Participants were recruited from a list of children who were assessed for eligibility for an ongoing randomized controlled trial (Kaiser & Peredo, 2019 –2024) but were excluded because the children already had an autism diagnosis or exhibited characteristics of autism based on the Screening Tool for Autism in Toddlers and Young Children (STAT; Stone & Ousley, 2008 ). A bilingual member of the research team called participants who had consented to being contacted for future studies for a phone screening. Subsequent in-person eligibility assessments were conducted in families’ homes. Interested families whose children demonstrated characteristics of autism based on the STAT but did not yet have a diagnosis were provided with a full evaluation including administration of the TELE-ASD-PEDS (Corona et al., 2020 ) and a diagnostic interview by qualified providers. Prior to any study activities, consent was obtained from caregivers indicating that they wished to participate and that they gave consent for their children to participate. Written consent forms and verbal explanations of the consent forms were in Spanish. All study procedures and materials were approved by a university Institutional Review Board (IRB). Participating families received toys and books (shape sorter, blocks, bubbles, and two bilingual picture books) at the beginning of the study valued at approximately $50. Additional incentives included intervention materials that were collaboratively selected with the family during the individualization process described in the following section.

Intervention Planning and Individualization

Individualizing the intervention at the beginning of the study occurred during the therapist-child intervention phase and the series of interviews (see Fig.  1 ). The primary purposes of the therapist-child intervention phase were to (a) give the child experience in the intervention context as a foundation for the caregiver-implemented intervention and (b) provide the research team with specific information about how to best individualize intervention based on their interactions with the child. Family members in addition to the participating caregiver were invited to the initial interview and planning session, which occurred after all baseline sessions were completed and prior to any caregiver instruction (see Fig.  1 ). The Family Values and Activities Interview (FVAI) was administered in Spanish by the interventionist using the FVAI protocol (Peredo, 2016 ). The first part of this semi-structured protocol was a series of open-ended questions about the family values, goals, and beliefs about communication. The second part included questions about the activities that occurred frequently, were important to the family, or both.

During the planning portion of the session, the family and interventionist first selected specific routines or activities that were typical for each family and could be used in the intervention sessions to practice the EMT en Español Para Autismo intervention strategies with coaching. Second, the interviewer, interventionist, and family collaborated to select additional play materials (within a $50 budget per family) that would be engaging for the child and facilitate communicative interactions. Third, families and therapists determined whether to introduce the SGD if the child used fewer than five spoken words at the beginning of intervention and during therapist-child intervention sessions. When applicable, families were provided iPad minis loaded with Proloquo2Go. Activity grid displays with Spanish vocabulary were primarily used for this pilot study. The families kept the SGDs between sessions during the study and after the study ended. Prior to beginning the caregiver-implemented intervention phase, children’s abilities to visually scan symbols on the iPad were tested using a “chase the ball” task to determine the grid size (see Hampton et al., 2020 , for a description). Core vocabulary words (e.g., sí/yes, no, poner/to put) were added to each page, and activity pages were individualized to the participant. Symbols were added on an ongoing basis based on caregiver preferences and therapist suggestions, ensuring that an adequate number of verbs, nouns, and adjectives were available, and that vocabulary matched the family’s dialect and vocabulary preferences (Bernal et al., 1995 ; Binger et al., 2023 ).

Each family also participated in two shorter mid-intervention interviews (“mini-interviews”; see Fig.  1 and Online Resource) with the interventionist. The mini-interviews occurred immediately before the introduction of Tier 2 and Tier 3 strategies. During mini-interviews, the interventionist asked the families how they felt about the intervention, their child’s progress, and any changes in family activities relevant to intervention.

Participants

Five dyads completed in-person screening for the study. One dyad did not enroll in the study due to limited ability to participate in study sessions multiple times per week. Two dyads enrolled in the study but dropped out before starting intervention or before completing Tier 1 of intervention. In both cases, the caregivers did not wish to continue with the study sessions because their children became eligible to start receiving services at school or from other providers. Table 2 shows characteristics of the two dyads who enrolled and completed the study.

Dyad 1 included a 33-month-old boy and his maternal grandmother, referred to as Daniel and Dayana. Daniel received an autism diagnosis from an evaluation team in Mexico during the study prior to the FVAI and planning session. Daniel was not receiving any additional services at the beginning of the study, but he began attending full-day monolingual English-speaking preschool during Tier 2 of the study intervention. Dayana and Daniel’s mother participated in the initial FVAI and planning session. Per the family’s report and observation during therapist-child sessions, Daniel enjoyed playing with a variety of toys, movement (e.g., jumping on a trampoline), and looking at books. He communicated primarily by vocalizing, leading others by the hand, and giving objects. The therapist and family decided to introduce the SGD, which was available during all subsequent TMCR and generalization sessions except for one session when the battery had died. Although Daniel preferred reading books independently and would turn away when others joined him, shared book-reading was valued by the family and was incorporated into TMCR sessions. The additional materials collaboratively selected for intervention included toys representing various foods and cooking tools, board books, and a pop-up toy. Snack and mealtime routines were preferred activities for Daniel and were selected as contexts for caregiver practice and coaching. Daniel’s mother, father, and grandmother all participated in the first mini-interview (prior to Tier 2) and the exit interview. Only Dayana participated in the second mini-interview (prior to Tier 3). During mini-interviews, the family discussed child progress that they noticed, such as that he was making eye contact more often and sleeping better. After the first mini-interview, drawing with markers was added as an intervention session activity and handouts were provided to help with ongoing potty training outside of sessions. Although shared book-reading continued to be a struggle, the family continued to state its importance and it remained an intervention session activity.

Dyad 2 included a 31-month-old boy and his mother, referred to as Luis and María. Luis demonstrated signs of autism during screening and was subsequently diagnosed during a professional evaluation arranged by the research team. Luis attended a bilingual English- and Spanish-speaking childcare for approximately 4–7 h each weekday at the beginning of the study, but his enrollment was inconsistent during the study. Each week, he received occupational therapy 30 min and speech-language therapy 60 min in English. His mother had monthly telepractice consultations in Spanish regarding strategies to support Luis at home. María participated in the FVAI and planning session. Per caregiver report and observation during therapist-child sessions, Luis enjoyed taking walks, watching television, shared book reading, blocks, tickles, and sensory play (e.g., Play-Doh). He communicated by vocalizing, using gestures such as reaching and giving, and a few spoken words (e.g., mamá, no). María was hesitant about the SGD, as she wanted to limit her children’s screen time; however, she agreed to try using it for a few sessions before deciding. In the fifth TMCR session with the SGD, María mentioned that she liked that he was trying to use the device more frequently to communicate. The SGD was available in all subsequent TMCR and generalization sessions. The additional materials selected for intervention included puppets, books, and a Play-Doh set. Preparing and eating food, getting dressed, and combing hair were preferred routines for Luis; these were incorporated into TMCR sessions as routines for practice and coaching with EMT en Español Para Autismo strategies. María and Luis’s grandmother participated in mini-interviews. They reported noticing changes in the child’s communication and behavior, including more vocalizations and pointing, more interest in play, and more awareness of his surroundings. They also shared that they still hoped he would talk more. Brushing teeth and washing dishes were routines added to TMCR sessions based on feedback during mini-interviews. Playing with Play-Doh became a favorite activity for Luis.

Sessions occurred up to three times per week (approximately 120–180 min/week) in families’ homes and were video recorded. One interview with Dayana occurred via a Zoom (version 5.13.7) videoconference due to family illness. There were two primary interventionists, one for each of the two participating families. The first interventionist (female, 31 years old, Korean/White) was a doctoral candidate in Special Education and a speech-language pathologist with 4 years of training and experience delivering EMT and EMT en Español to young children with language delays in research settings. She was a proficient Spanish speaker, a native English speaker, and a lifelong resident of the United States. The second interventionist (female, 42 years old, Latina) had over 20 years of clinical experience in language and behavioral interventions with young children. She had a master’s degree in psychology and over 5 years of experience with EMT en Español and TMCR in research settings. She was a native Spanish speaker, a fluent English speaker, and had been a resident of the United States (9 years) and Mexico.

Pre-Intervention Phase

Pre-intervention activities are shown in Fig.  1 . During caregiver baseline sessions (approximately 25 min per visit), the therapist video recorded the caregiver and child interacting in typical play or book-reading contexts for 15 min. Families were provided with the standard toys and books at the first session. During therapist-delivered intervention sessions (approximately 35 min per visit), the intervention lasted 25 min, including 20 min of play with toys and 5 min of book reading. The caregiver was invited but not required to observe the session. No caregiver instruction occurred in this phase.

Teach-Model-Coach-Review Phase

TMCR sessions lasted approximately 1 h and contained four segments corresponding to teach, model, coach, and review. The duration and activities of each are shown in Table  3 .

The Teach portion included a workshop (20–30 min) when a new strategy was introduced (i.e., at the beginning of the phase change for each tier), and the remaining sessions included a shorter review of the target strategies (5–10 min). During the Model portion (10 min), the therapist modeled all EMT en Español Para Autismo strategies with the child, including those that had not yet been taught to the caregiver. To avoid behavioral covariation across tiers (Gast et al., 2018 ), the therapist narrated and discussed her use of only the strategies that had been introduced to the caregiver. In the Coach segment (15 min), the caregiver used strategies during play, book-reading, and routines that had been collaboratively selected during the planning meeting. The interventionist coached the caregiver and provided brief positive feedback to support her use of the targeted strategies. The interventionist modeled and coached the caregiver to model spoken language targets while simultaneously activating corresponding symbols with the SGD (Biggs et al., 2018 ; Sevcik et al., 1995 ). In some cases, 10 min of play was divided into shorter segments with visual timers for the child. Finally, in the Review segment (5–10 min), the caregiver and therapist reviewed and reflected on the session. Overall, the child received intervention from the caregiver for 15 min during the Coach component and from the interventionist for 10 min during the Model component. Only 10 min of caregiver-child interaction were coded, as described below.

Generalization sessions lasted 15 min and occurred four times for each family during the TMCR phase—once before each of the three workshops, and once before the exit interview. Like baseline sessions, the therapist did not provide any coaching or instruction before, during, or after the caregiver-child interaction. Like TMCR sessions, the therapist asked the family to engage in the three activity contexts: play (10 min), book-reading (2–3 min), and routine (2–3 min) (Table  3 ).

Post-Intervention Phase

Daniel’s mother, father, and grandmother participated in the exit interview (English version available in Online Resource). María and Luis’s grandmother participated in the exit interview. The exit interviews were conducted in Spanish by the interventionist who did not coach the family. Questions were related to the utility of EMT en Español Para Autismo strategies, approximately how often the caregivers practiced the strategies each week during different types of activities, and how the intervention could be improved for families who would participate in the future. The interviewer also asked families to rate the effectiveness and appropriateness of each of the EMT en Español Para Autismo strategies on a 5-point Likert-type scale (1 = ineffective or inappropriate, 5 = very effective and appropriate). Follow-up generalization session procedures were identical to TMCR phase generalization session procedures.

Data Collection

Sessions were transcribed and coded from video following each session using Systematic Analysis of Language Transcripts (SALT) software, Version 20 (Miller & Iglesias, 2020 ). Transcription and coding were performed by native Spanish speakers who were unaware of condition changes to mitigate potential bias (Ledford et al., 2018 ). These transcribers and coders were undergraduate students or bachelor’s or master’s level research staff who had been trained to transcribe and code similar interactions using videos from EMT en Español projects. Coded segments were 10 min in length and included 8 min of play, 1 min of routines, and 1 min of book reading from caregiver-child interactions (i.e., in TMCR sessions, the Coach segment).

Dependent variable definitions are in Table  1 . Caregiver variables were the caregivers’ use of EMT en Español Para Autismo strategies. Target level language for the current study was based on a three-level framework for Spanish language targets developed and used in an ongoing study with LSS children with developmental language disorders (Kaiser & Peredo, 2019 –2024). Children in the current study were in the first level; target level and proximal target level language models are described in Table  1 . Child dependent variables were the number of total words (NTW), the number of different words (NDW), and the number of times the child communicated with a vocalization, gesture, or word in any mode. All words used by the children were in Spanish during these sessions; however, any words used in English would also have been counted in NTW and NDW.

Fidelity and Reliability

Procedural fidelity refers to the extent to which each experimental condition was executed as planned (Barton et al., 2018b ). For each type of session (baseline, therapist-child intervention, TMCR, or generalization), 33% of sessions were randomly selected (using the RAND() function in Excel) for procedural fidelity measurement by a trained research team member who did not participate in carrying out sessions. Fidelity checklists specific to each session type were completed from video by a trained observer (other than the interventionist) in a REDCap database (Harris et al., 2009 ). The interventionists were unaware of which sessions were randomly selected for procedural fidelity measurement. Procedural fidelity averaged 90.2% (75.0–100.0%) across 39 sessions.

Point-by-point interobserver reliability was measured for a randomly selected sample of 33% of sessions for caregiver-child interaction data. The first author performed the random selection of sessions using Excel. Coders were unaware of which sessions were randomly selected for interobserver reliability until after primary transcription and coding of the session were complete. Interobserver reliability for 29 caregiver-child interactions averaged 89.1% (77.5–95.5%) for caregiver data and 87.2% (73.1–95.1%) for child data.

There were concerns regarding low interobserver reliability for some sessions, especially at the beginning of the study. Many disagreements were related to determining whether child vocalizations had communicative intent and whether the adult gave the child enough time to respond. Coding error patterns were reviewed, discussed, and consensus coded at weekly meetings throughout the study (Yoder et al., 2018 ). Consensus codes were revised in the primary data. Midway through the study, to ensure consistency of coding over the course of the study, a trained coder reviewed and verified coding of sessions that had been transcribed and coded up to that point. Sixty-four caregiver-child interactions (out of 82 coded sessions, 78%) were verified.

Data Analysis

Caregiver data were graphed and visually analyzed to inform decision-making and to determine the presence or absence of a functional relation for each dyad (Barton et al., 2018a ; Gast et al., 2018 ). Graphs were produced using GraphPad Prism 10 for Windows version 10.1.0 (GraphPad Software, LLC , 2023). The first, second, and fourth authors reviewed primary data weekly throughout the study; decisions were made by consensus. Secondary dependent variables (i.e., generalization and maintenance of caregiver strategy use, child communication) were also graphed and visually analyzed at the end of the study but were not considered in decisions related to phase changes. In addition to visual analysis, we measured the magnitude of change for each demonstration of effect by calculating the log response ratio (LRR) effect sizes. LRRs are advantageous because of the relative insensitivity to procedural variables and the interpretation as percentage of change over baseline (Pustejovsky, 2018 , 2019 ). LRRs were calculated using RStudio version 4.0.2 (R Core Team, 2020 ) and the batch_calc_es() function in the SingleCaseES package (Pustejovsky et al., 2021 ). To analyze the social validity of the intervention, responses and notes relevant to the fourth research question (pertaining to how caregivers perceived the intervention approach) from mini-interviews and exit interviews were synthesized by the first author and reviewed by the second and fourth authors. Responses to Likert-type questions were averaged, and family comments were summarized.

Caregiver Strategy Use

Dayana’s data are in Fig.  2 . Her use of target level language (Tier 1), expansions (a Tier 2 dependent variable), and communication elicitations (Tier 3) were low and stable during baseline. Contingent target language and communication elicitations immediately increased (within 3 sessions) and her expansions began on a clear increasing trend after the strategies were introduced. In baseline, contingent proximal target language (a Tier 2 dependent variable) increased from near zero to approximately 20 ( M  = 15.5, range 3–23) when Tier 1 strategies were introduced. Proximal targets increased again slightly and became more variable ( M  = 26.0, range 13–41) in Tier 2. Dayana generalized her use of all strategies to sessions without coaching during the study and at follow-up, although communication elicitations decreased at the 2-month follow-up. Overall, Dayana increased use of contingent targets by 883% over baseline ( LRRi  = 2.30) and her use of proximal targets by 211% over baseline ( LRRi  = 1.13) with the TMCR intervention. Effect sizes for expansions and communication elicitations were not interpretable because caregiver use of these strategies was near 0 in baseline.

Graphs with four tiers depicting Dayana’s use of strategies. Strategy use increased intervention was introduced for target language and communication elicitations. Proximal targets increased when Tier 1 intervention began. Expansions increased gradually when Tier 2 intervention began. The vertical lines indicate when intervention began for each strategy. Gray boxes indicate when therapist-child intervention occurred. Line graphs show the number of times the caregiver used the targets or proximal targets in coached interactions (black circles) and uncoached interactions (white circles). White bars indicate opportunities to expand or communication elicitation attempts. Black bars indicate expansions or high-quality communication elicitations

María’s data are in Fig.  3 . Her use of Tier 2 strategies (proximal target language modeling and expansions) were low and stable during baseline. Contingent target language (Tier 1) and communication elicitations (Tier 3) were somewhat variable during baseline. Data for all strategies demonstrated clear increases in level in the first or second session after the strategies were introduced. There were slight decreasing trends for target language (Tier 1), expansions (a Tier 2 dependent variable), and communication elicitations (Tier 3). Contingent target language remained variable during the intervention phase ( M  = 26.3, range 6–46) but was higher than baseline ( M  = 7.2, range 2–16), on average. Caregiver 2’s generalization to sessions without coaching was variable across strategies. She used targets and communication elicitations but not proximal targets at the follow-up session (there were no opportunities for expansions). Overall, María increased her use of targets by 250% over baseline ( LRRi  = 1.25) and her use of proximal targets by 168% over baseline ( LRRi  = 0.99) with the TMCR intervention. The effect sizes for expansions and communication elicitations were not interpretable because caregiver use of these strategies was near 0 in baseline.

Graphs with four tiers depicting María’s use of strategies. Strategy use increased for each set when intervention was introduced, but contingent targets remained variable. The vertical lines indicate when intervention began for each strategy. Gray boxes indicate when therapist-child intervention occurred. Line graphs show the number of times the caregiver used the targets or proximal targets in coached interactions (black circles) and uncoached interactions (white circles). White bars indicate opportunities to expand or communication elicitation attempts. Black bars indicate expansions or high-quality communication elicitations

Child Communication

Child communication outcomes are displayed in Figs.  4 and 5 .

Line graphs showing Daniel’s NTW, NDW, and social communication per caregiver-child interaction in TMCR (black circles) and generalization (white circles) sessions. Vertical lines indicate when new intervention strategies were introduced. NTW and NDW were low in baseline and Tier 1. They increased and became variable in Tiers 2 and 3. Social communication was highly variable and increasing in Tiers 2 and 3. Gray boxes indicate when therapist-child intervention occurred

Line graphs showing Luis’s NTW, NDW, and social communication per caregiver-child interaction in TMCR (black circles) and generalization (white circles) sessions. Vertical lines indicate when new intervention strategies were introduced. NTW and NDW were low in baseline. They increased and were variable in all three tiers of intervention. Social communication was highly variable and had an increasing trend across all phases. Gray boxes indicate when therapist-child intervention occurred

Nearly all words children used were communicated via the SGD. Daniel’s communication with words remained near zero until Tier 2 of intervention, then NTW and NDW increased and became more variable. In Tier 3, Daniel averaged 20.7 total words (range 0–45) and 10.8 different words (range 0–23) per session. For social communication (i.e., utterances with vocalizations, gestures, or words), there was a decreasing trend in baseline ( M  = 16.2, range 4–30), and data were variable through the middle of Tier 2. In Tier 3, Daniel was communicating more frequently on average ( M  = 34.7, range 15–54) than in baseline with a large amount of overlap. Luis communicated using fewer than five words per session until the end of Tier 1 when he used 14 words in one session. NTW and NDW were variable but higher than baseline throughout Tiers 2 and 3 (NTW, M  = 11.3, range 3–25; NDW, M  = 8.2, range 3–17). The number of social communication acts was variable throughout the study with an increasing trend. Luis’s social communication in Tier 3 ( M  = 32.8, range 19–51) was higher than in baseline ( M  = 12.7, range 5–29) with some overlap. Notably, Luis’s NTW and NDW decreased to 0 at the follow-up session. Upon arrival, it was discovered that his SGD had been malfunctioning for some time. It was repaired prior to the follow-up generalization session.

Social Validity

At the exit interview, caregivers reported that the most helpful component of TMCR was watching the interventionist model the intervention with the child (Dayana) or practicing implementing the strategies with coach feedback (María). Both reported using EMT en Español Para Autismo strategies every day, including during play, pre-academic activities (e.g., coloring, book-sharing), and caregiving routines (e.g., bath time, mealtime). They rarely used intervention strategies during housekeeping routines (e.g., laundry, cleaning). Both participating caregivers taught the strategies to other family members. When asked how the intervention could be improved, one family suggested adding music to some of the activities to help the child concentrate. The other family suggested a longer intervention period. Dayana rated all strategies on which she was trained with a 5 (very effective and appropriate). María rated all strategies with a 4 or 5 except for the Tier 1 strategies of reducing instructions and questions, which she rated a 1 (ineffective and inappropriate). Both families reported difficulty with managing the SGD. María did not agree with allowing children to frequently use tablets and phones, but she could see her child was happy when he was understood by others. Daniel’s family became frustrated when he became so focused on his device that he did not participate in the activity at hand (e.g., eating his food at mealtime).

The primary purpose of the current pilot study was to test the effects of the collaborative TMCR approach to teach EMT en Español Para Autismo strategies to two Latina Spanish-speaking caregivers with their toddlers on the autism spectrum. Social validity analyses indicated both families felt the intervention was effective with some concerns related to use of the SGDs. This study extends the small research base on culturally and linguistically adapted early communication interventions for LSS families and their children on the autism spectrum.

The study’s development and design had unique strengths. First, the intervention was initially adapted for LSS families of young children with language delays (Peredo et al., 2018 , 2022 ) and adapted again for children on the autism spectrum. Second, the intervention was individualized for each participating dyad based on repeated family interviews throughout the study and a direct therapist-delivery phase of intervention prior to caregiver coaching. The essential components of EMT that support children’s language development (e.g., environmental arrangement, contingent language modeling) were maintained; however, these components allowed the therapist to build and maintain rapport with the family during baseline and while teaching the intervention strategies. They also supported collaboration and family preference related to intervention materials, activities, engagement supports, and introduction and programming of the SGD.

TMCR and EMT en Español Para Autismo Strategies

There was a clear functional relation between systematic implementation of the TMCR approach and use of EMT en Español Para Autismo strategies for one of the caregivers (María). In other words, she increased her use of specific EMT en Español Para Autismo strategies when and only when she was taught each strategy using the TMCR approach (Gast et al., 2018 ). For Dayana, there were three demonstrations of the effect of TMCR on use of target level language, expansions, and communication elicitations (Gast et al., 2018 ). However, the confidence in the functional relation was weakened by the covariation between contingent target and proximal target level language. The increase in proximal target level language (a Tier 2 strategy) corresponded with the introduction of Tier 1 strategies. This covariation indicates that use of proximal and target level phrases were not fully independent behaviors for Dayana; rather, she began using simpler phrases at a higher rate when target level language was introduced and did not discriminate targets from proximal targets. Although unexpected, this response generalization is not surprising given the precise linguistic distinctions between target-level and proximal target-level language targets as shown in Table  1 . For example, the label for popsicle would be a target if it were in singular form (la paleta) and a proximal target if it were in plural form (las paletas). Many caregivers would likely benefit from being taught target level and proximal target level language simultaneously rather than teaching proximal targets at the same time as expansions.

The caregivers reported the TMCR approach to be effective and helpful for them in learning the strategies. They reported that most of the EMT en Español Para Autismo strategies were effective and appropriate with one exception. María indicated that reducing instructions and questions to balance matched turns was ineffective and inappropriate for her in interactions with her child. This finding is somewhat consistent with other EMT en Español studies in which caregivers reported a cultural tension with reducing questions and directions but found it to be an effective strategy for their child (Peredo et al., 2018 , 2020 ). Further research on the perceived effectiveness of reducing test questions and behavioral directions from LSS caregivers of children on the autism spectrum will help determine if further adaptation of this strategy is needed.

The findings should be interpreted in light of the fact that caregiver opportunities to practice and demonstrate skills such as use of targets and expansions were contingent on the opportunities presented by child communication and engagement. Simply put, for caregivers to immediately increase their behavior, there had to be child-presented opportunities to respond. Measuring contingent behavior in this way closely reflects the posited active ingredient of the intervention (Dillehay, 2023 ), and it may explain differences between results in the current and previous studies. Unlike in the Peredo et al. ( 2018 ) study, in the current pilot study, Dayana’s use of expansions increased gradually. Daniel often activated the same word many times in a row, and it was difficult to determine his communicative intent. This could have influenced Dayana’s ability to respond contingently using expansions and coders’ interobserver agreement.

Independent Use of Strategies

Use of strategies generalized or partially generalized to sessions without coaching support, including at follow-up. The overall number of generalization sessions was small, and the context only differed from the intervention context by one variable (the absence of coaching support); however, the current data are encouraging when interpreted alongside the caregiver reports that they used EMT en Español Para Autismo strategies throughout the week during play, book reading, and routines. The individualization of the intervention (i.e., collaborative selection of toys, interviews) may also have supported generalization by ensuring intervention activities aligned with family activities outside the study and that multiple family members were involved (DuBay et al., 2018 ). María’s use of Tier 2 strategies did not generalize or maintain at the 2-month follow-up. At that session, she did not have opportunities to expand because Luis did not use any verbal utterances. Luis’s decrease in verbal communication may have been related to lack of access to his SGD prior to the follow-up session. Families would likely benefit from booster sessions and check-ins for technical support for long-term generalization and maintenance of strategy use (Kent-Walsh & McNaughton, 2005 ).

Child Outcomes

While the design of this pilot study did not control for possible effects of maturation on child communication, both children in the study demonstrated significant growth during the 6–7 months they were in the study. Neither child was receiving any other targeted language intervention in Spanish at the time that might have accounted for the growth. Both children began using SGDs provided during the study (and were not using them during baseline), which was likely critical for supporting their increased communication, in addition to implementation of the EMT en Español Para Autismo strategies with aided modeling by their caregivers and the therapists. Also important to note regarding child outcome data was that, to increase coding reliability, a decision was made to score child vocalizations or activation of SGD symbols as communicative if the caregiver responded contingently. Therefore, it is possible that a greater proportion of child vocalizations and SGD activations were coded as communicative in later sessions than in earlier sessions, reflecting both increases in caregiver responsiveness and differences in child communication.

Limitations

The first major limitation to this pilot study was the number of participants. Four families enrolled in the study, and only two families completed the intervention. Both families that dropped out indicated that they did not want to tire their child by having them in too many therapies. This speaks to the time and effort that families must contribute to participating in an intensive early childhood intervention and particularly to the research requirements associated with added paperwork and scheduling of sessions. For researchers, it is important to consider shorter baselines, limited paperwork, and designs that require fewer sessions. Solutions in practice may include a greater degree of collaboration between the multiple providers (Part C developmental therapists, speech language pathologists, and others), more efficient use of therapy time, and continuously engaging with families to understand their priorities in choosing services and delivery models.

Another limitation was that introduction of new EMT en Español Para Autismo strategies roughly coincided with minor changes to routine contexts for intervention (described in the Participants section). After mini-interviews, routines began to include coloring for Daniel and brushing teeth and washing dishes for Luis. It is possible that the new contexts influenced the caregivers’ use of strategies at the time they were introduced; however, those changes would likely have affected caregivers’ data in all tiers. Routine contexts also comprised a small proportion of the data collection period in each session (1 min out of 10 min).

Other limitations pertained to interpretation of child outcomes. Given the study design, child communication outcomes could not be attributed specifically to caregiver use of EMT en Español Para Autismo strategies. The children received the full intervention from the therapist during the initial direct intervention phase and during the model portions of the TMCR sessions. The caregivers were not taught the full intervention until Tier 3 near the end of the study. Additionally, the contribution of the children’s access to the SGD could not be separated from the effects of the EMT en Español Para Autismo intervention delivered by the therapist and the caregiver. Future studies should investigate caregiver implementation of EMT en Español Para Autismo with SGDs using a study design that allows for detection of effects of caregiver training alone on child outcomes.

Future Directions for Research

Future research should build on the current findings by systematically replicating the current study with additional LSS families from diverse backgrounds. Children on the autism spectrum are heterogeneous as well, with different interests and abilities including social communication, receptive and expressive language skills, and engagement in play-based activities (McDuffie et al., 2012 ). Systematic assessment, the direct therapist intervention component, as well as the collaborative interview process and strategic individualization in this pilot study present one potential model for future studies to individualize EMT en Español Para Autismo for diverse LSS participants.

Future research should also expand the intervention to address all aspects of using AAC with this population of families. Although both children demonstrated increases in verbal communication using SGDs, one caregiver indicated that she was reluctant to use it at the beginning of the intervention and the other family reported difficulty managing the SGD during everyday routines. Researchers should continue to develop materials and methods for teaching LSS caregivers about AAC (De Leon et al., 2023 ), the evidence to support its use by children on the autism spectrum (e.g., Hampton et al., 2020 ), and instruction in how to model language using SGDs (Biggs et al., 2018 ; Sevcik et al., 1995 ). Low-tech forms of AAC may also be effective and preferred by some families. These materials should be culturally and linguistically adapted with the help of LSS families, as were the workshops for the current study. Future studies should also delineate systematic procedures for selection of Spanish and English vocabulary to include on the devices, incorporating principles of typical bilingual Spanish and English language development and individualized family communication needs (Binger et al., 2023 ; Soto & Cooper, 2021 ).

Implications for Practice

Practitioners could apply the collaborative interview process when working with LSS families and children on the autism spectrum using the protocols in the Online Resource and published by Peredo ( 2016 ). Conversations or interviews prior to implementing family-centered intervention have been recommended when working with culturally and linguistically diverse families (Cycyk & Iglesias, 2015 ; Peredo, 2016 ). In the current study, these interviews systematically occurred at regular intervals throughout intervention. Intervention should ideally be provided by practitioners that speak Spanish when that is the family’s home language. However, practitioners working with interpreters or with limited proficiency in the family’s home language could also use similar interview questions to structure conversations to better understand family values, frequent activities, and preferences.

Bilingual practitioners may also consider a direct intervention component when working with LSS families with toddlers on the autism spectrum. A direct therapist intervention phase prior to caregiver coaching could support planning and collaboration by giving the practitioner a better understanding of potentially needed supports (e.g., AAC, behavior supports). A continued direct intervention throughout the caregiver coaching phase, either via the Model component of TMCR or additional direct intervention sessions, could support overall dosage of intervention received by the child. This dual implementer approach could ease the pressure on caregivers to deliver the entire dosage of intervention necessary to see language skill gains while still engaging and empowering families to support their child’s growth.

Few intervention studies have focused specifically on the experiences, needs, and preferences of LSS families with children on the autism spectrum. This study demonstrated effective application of the TMCR approach to teach caregivers a culturally, linguistically, and individually adapted intervention. The caregivers in the current pilot study implemented EMT en Español Para Autismo strategies with their children on the autism spectrum, generalized use of most of the strategies to unsupported interactions, and gave positive feedback about their experience with the intervention. The children increased the frequency and diversity of communication with their caregivers over time. This study contributes to the literature on family-centered naturalistic developmental behavioral interventions for diverse families and children on the autism spectrum. More systematic inquiry is needed to understand the effects and social validity of the TMCR approach and EMT en Español Para Autismo strategies for diverse families.

AssistiveWare. (2023). Proloquo2Go AAC [Mobile app]. App Store. https://apps.apple.com/us/app/proloquo2go-aac/id308368164

Baer, D. M., Wolf, M. M., & Risley, T. R. (1968). Some current dimensions of applied behavior analysis. Journal of Applied Behavior Analysis, 1 , 91–97.

Article   PubMed   PubMed Central   Google Scholar  

Barton, E. E., Lloyd, B. P., Spriggs, A. D., & Gast, D. L. (2018a). Visual analysis of graphic data. In J. R. Ledford & D. L. Gast (Eds.), Single case research methodology: Applications in special education and behavioral sciences (3rd ed., pp. 179–214). Routledge.

Chapter   Google Scholar  

Barton, E. E., Meadan-Kaplansky, H., & Ledford, J. R. (2018b). Independent variables, fidelity, and social validity. In J. R. Ledford & D. L. Gast (Eds.), Single case research methodology: Applications in special education and behavioral sciences (3rd ed., pp. 133–156). Routledge.

Bernal, G., Bonilla, J., & Bellido, C. (1995). Ecological validity and cultural sensitivity for outcome research: Issues for the cultural adaptation and development of psychosocial treatments with Hispanics. Journal of Abnormal Child Psychology, 23 , 67–82.

Article   PubMed   Google Scholar  

Beukelman, D. R., & Light, J. K. (Eds.). (2020). Augmentative and alternative communication: Supporting children and adults with complex communication needs (5th ed.). Brookes.

Google Scholar  

Biggs, E. E., Carter, E. W., & Gilson, C. B. (2018). Systematic review of interventions involving aided AAC modeling for children with complex communication needs. American Journal on Intellectual and Developmental Disabilities , 123 (5), 443–473. https://doi.org/10.1352/1944-7558-123.5.443

Binger, C., Harrington, N., & Kent-Walsh, J. (2023). Applying a developmental model to preliterate aided language learning. American Journal of Speech-Language Pathology , 33 , 33–50. https://doi.org/10.1044/2023_AJSLP-23-00098

Chlebowski, C., Magaña, S., Wright, B., & Brookman-Frazee, L. (2018). Implementing an intervention to address challenging behaviors for autism spectrum disorder in publicly-funded mental health services: Therapist and parent perceptions of delivery with Latinx families. Cultural Diversity and Ethnic Minority Psychology, 24 (4), 552–563. https://doi.org/10.1037/cdp0000215

Corona, L., Hine, J., Nicholson, A., Stone, C., Swanson, A., Wade, J., Wagner, L., Weitlauf, A., & Warren, Z. (2020). TELE-ASD-PEDS: A telemedicine-based ASD evaluation tool for toddlers and young children . Vanderbilt University Medical Center.

Cycyk, L., & Iglesias, A. (2015). Parent programs for Latino families with young children: Social, cultural, and linguistic considerations. Seminars in Speech and Language, 36 (02), 143–153. https://doi.org/10.1055/s-0035-1549109

De Leon, M., Solomon-Rice, P., & Soto, G. (2023). Perspectives and experiences of eight Latina mothers of young children with augmentative and alternative communication needs. Perspectives of the ASHA Special Interest Groups , 8 (5), 1072–1085. https://doi.org/10.1044/2023_PERSP-23-00074

Article   Google Scholar  

Dillehay, K. M. (2023). Dosage, fidelity, and child outcomes in a small randomized controlled trial of EMT en Español . Dissertation, Vanderbilt University.

DuBay, M. (2022). Cultural adaptations to parent-mediated autism spectrum disorder interventions for Latin American families: A scoping review. American Journal of Speech-Language Pathology . https://doi.org/10.1044/2022_AJSLP-21-00239

DuBay, M., Watson, L. R., & Zhang, W. (2018). In search of culturally appropriate autism interventions: Perspectives of latino caregivers. Journal of Autism and Developmental Disorders, 48 (5), 1623–1639. https://doi.org/10.1007/s10803-017-3394-8

Gast, D. L., Lloyd, B. P., & Ledford, J. R. (2018). Multiple baseline and multiple probe designs. In J. R. Ledford & D. L. Gast (Eds.), Single case research methodology (3rd ed., pp. 239–281). Routledge/Taylor & Francis Group.

Gevarter, C., Najar, A. M., Flake, J., Tapia-Alvidrez, F., & Lucero, A. (2022). Naturalistic communication training for early intervention providers and Latinx parents of children with signs of autism. Journal of Developmental and Physical Disabilities, 34 (1), 147–169. https://doi.org/10.1007/s10882-021-09794-w

GraphPad Software, LLC. (2023). GraphPad Prism 10 for macOS (Version 10.0.0) [Computer Software]. https://www.graphpad.com/

Hampton, L. H., Harty, M., Fuller, E. A., & Kaiser, A. P. (2019). Enhanced milieu teaching for children with autism spectrum disorder in South Africa. International Journal of Speech-Language Pathology, 21 (6), 635–645. https://doi.org/10.1080/17549507.2018.1559357

Hampton, L. H., Kaiser, A. P., & Fuller, E. A. (2020). Multi-component communication intervention for children with autism: A randomized controlled trial. Autism, 24 (8), 2104–2116. https://doi.org/10.1177/1362361320934558

Hampton, L., Kaiser, A., Nietfeld, J., & Khachoyan, A. (2021). Generalized effects of naturalistic social communication intervention for minimally verbal children with autism. Journal of Autism and Developmental Disorders, 51 , 75–87. https://doi.org/10.1007/s10803-020-04521-4

Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., & Conde, J. G. (2009). Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support. Journal of Biomedical Informatics, 42 (2), 377–381. https://doi.org/10.1016/j.jbi.2008.08.010

Heidlage, J. K., Cunningham, J. E., Kaiser, A. P., Trivette, C. M., Barton, E. E., Frey, J. R., & Roberts, M. Y. (2020). The effects of parent-implemented language interventions on child linguistic outcomes: A meta-analysis. Early Childhood Research Quarterly , 50 , 6–23. https://doi.org/10.1016/j.ecresq.2018.12.006

Kaiser, A. P., Fuller, E. A., & Heidlage, J. K. (2021). Implementing enhanced milieu teaching with children who have autism spectrum disorder. In P. A. Prelock & R. J. McCauley (Eds.), Treatment of autism spectrum disorders: Evidence-based intervention strategies for communication and social interaction (2nd ed., pp. 255–286). Paul H. Brookes.

Kaiser, A. P., & Hampton, L. H. (2017). Enhanced milieu teaching. In R. J. McCauley, M. E. Fey, & R. B. Gillam (Eds.), Treatment of language disorders in children (2nd ed., pp. 87–119). Paul H. Brookes.

Kaiser, A. P., & Peredo, T. N. (2019–2024). EMT en Español: Comprehensive early intervention to support school readiness skills for Spanish-speaking toddlers with language delays (Project No. R324A190177) [Grant]. National Center for Special Education Research. https://ies.ed.gov/funding/grantsearch/details.asp?ID=3293

Kent-Walsh, J., & McNaughton, D. (2005). Communication partner instruction in AAC: Present practices and future directions. Augmentative and Alternative Communication, 21 (3), 195–204. https://doi.org/10.1080/07434610400006646

Ledford, J. R., Lane, J. D., & Gast, D. L. (2018). Dependent variables, measurement, and reliability. In J. R. Ledford & D. L. Gast (Eds.), Single case research methodology (3rd ed., pp. 97–131). Routledge/Taylor & Francis Group.

Martinez-Torres, K., Boorom, O., Peredo, T., Camarata, S., & Lense, M. D. (2021). Using the ecological validity model to adapt parent-involved interventions for children with autism spectrum disorder in the latinx community: A conceptual review. Research in Developmental Disabilities, 116 , 1–12. https://doi.org/10.1016/j.ridd.2021.104012

McDuffie, A. S., Lieberman, R. G., & Yoder, P. J. (2012). Object interest in autism spectrum disorder: A treatment comparison. Autism, 16 (4), 398–405. https://doi.org/10.1177/1362361309360983

Meadan, H., Adams, N. B., Hacker, R. E., Ramos-Torres, S., & Fanta, A. (2020). Supporting Spanish-speaking families with children with disabilities: Evaluating a training and coaching program. Journal of Developmental and Physical Disabilities, 32 (3), 489–507. https://doi.org/10.1007/s10882-019-09704-1

Miller, J., & Iglesias, A. (2020). Systematic Analysis of Language Transcripts (SALT) (Version 20) [Computer Software]. SALT Software, LLC.

Peredo, T. N. (2016). Supporting culturally and linguistically diverse families in early intervention. Perspectives of the ASHA Special Interest Groups, 1 (1), 154–167. https://doi.org/10.1044/persp1.SIG1.154

Peredo, T. N., Dillehay, K. M., & Kaiser, A. P. (2020). Latino caregivers’ interactions with their children with language delays: A comparison study. Topics in Early Childhood Special Education . https://doi.org/10.1177/0271121419900269

Peredo, T. N., Mancilla-Martinez, J., Durkin, K., & Kaiser, A. P. (2022). Teaching Spanish-speaking caregivers to implement EMT en Español : A small randomized trial. Early Childhood Research Quarterly, 58 , 208–219. https://doi.org/10.1016/j.ecresq.2021.08.004

Peredo, T. N., Zelaya, M. I., & Kaiser, A. P. (2018). Teaching low-income Spanish-speaking caregivers to implement EMT en Español with their young children with language impairment: A pilot study. American Journal of Speech—Language Pathology, 27 (1), 136–153.

Pustejovsky, J. E. (2018). Using response ratios for meta-analyzing single-case designs with behavioral outcomes. Journal of School Psychology, 68 , 99–112. https://doi.org/10.1016/j.jsp.2018.02.003

Pustejovsky, J. E. (2019). Procedural sensitivities of effect sizes for single-case designs with directly observed behavioral outcome measures. Psychological Methods, 24 (2), 217–235. https://doi.org/10.1037/met0000179

Pustejovsky, J. E., Chen, M., & Swan, D. M. (2021). SingleCaseES: A Calculator for Single-Case Effect Sizes. R package (version 0.5.0). https://CRAN.R-project.org/package=SingleCaseES

R Core Team. (2020). R: A language and environment for statistical computing . R Foundation for Statistical Computing.

Roberts, M. Y., Curtis, P. R., Sone, B. J., & Hampton, L. H. (2019). Association of parent training with child language development: A systematic review and meta-analysis. JAMA Pediatrics , 173 (7), 671. https://doi.org/10.1001/jamapediatrics.2019.1197

Roberts, M. Y., & Kaiser, A. P. (2015). Early intervention for toddlers with language delays: A randomized controlled trial. Pediatrics, 135 (4), 686–693. https://doi.org/10.1542/peds.2014-2134

Schreibman, L., Dawson, G., Stahmer, A. C., Landa, R., Rogers, S. J., McGee, G. G., Kasari, C., Ingersoll, B., Kaiser, A. P., Bruinsma, Y., McNerney, E., Wetherby, A., & Halladay, A. (2015). Naturalistic developmental behavioral interventions: Empirically validated treatments for autism spectrum disorder. Journal of Autism and Developmental Disorders, 45 (8), 2411–2428. https://doi.org/10.1007/s10803-015-2407-8

Sevcik, R. A., Romski, M. A., Watkins, R. V., & Deffebach, K. P. (1995). Adult partner-augmented communication input to youth with mental retardation using the System for Augmenting Language (SAL). Journal of Speech, Language, and Hearing Research, 38 (4), 902–912. https://doi.org/10.1044/jshr.3804.902

Shaw, K. A., Bilder, D. A., McArthur, D., Williams, A. R., Amoakohene, E., Bakian, A. V., Durkin, M. S., Fitzgerald, R. T., Furnier, S. M., Hughes, M. M., Pas, E. T., Salinas, A., Warren, Z., Williams, S., Esler, A., Grzybowski, A., Ladd-Acosta, C. M., Patrick, M., Zahorodny, W., & Maenner, M. J. (2023). Early identification of autism spectrum disorder among children aged 4 years—Autism and developmental disabilities monitoring network, 11 Sites, United States, 2020. MMWR. Surveillance Summaries, 72 (1), 1–15. https://doi.org/10.15585/mmwr.ss7201a1

Article   PubMed Central   Google Scholar  

Soto, G., & Cooper, B. (2021). An early Spanish vocabulary for children who use AAC: Developmental and linguistic considerations. Augmentative and Alternative Communication , 37 (1), 64–74. https://doi.org/10.1080/07434618.2021.1881822

Stahmer, A. C., Vejnoska, S., Iadarola, S., Straiton, D., Segovia, F. R., Luelmo, P., Morgan, E. H., Lee, H. S., Javed, A., Bronstein, B., Hochheimer, S., Cho, E., Aranbarri, A., Mandell, D., Hassrick, E. M., Smith, T., & Kasari, C. (2019). Caregiver voices: Cross-cultural input on improving access to autism services. Journal of Racial and Ethnic Health Disparities, 6 (4), 752–773. https://doi.org/10.1007/s40615-019-00575-y

Stone, W. L., & Ousley, O. Y. (2008). Screening tool for autism in toddlers and young children . Vanderbilt University.

Wright, C., Kaiser, A., Reikowsky, D., & Roberts, M. (2013). Effects of a naturalistic sign intervention on expressive language of toddlers with Down syndrome. Journal of Speech, Language, and Hearing Research, 56 , 994–1008.

Yoder, P. J., Lloyd, B. P., & Symons, F. J. (2018). Observational measurement of behavior (2nd ed.). Brookes Publishing.

Zimmerman, I. L., Steiner, V. G., & Pond, R. E. (2012). Preschool language scales (5th Spanish) . Pearson.

Zuckerman, K. E., Lindly, O. J., Reyes, N. M., Chavez, A. E., Macias, K., Smith, K. N., & Reynolds, A. (2017). Disparities in diagnosis and treatment of autism in Latino and non-Latino white families. Pediatrics, 139 (5), e20163010.

Download references

Acknowledgments

This work was funded in part by an internal Scaling Success grant from Vanderbilt University, the United States Office of Special Education Programs Grants (H325D180095, PI: Ann P. Kaiser), and a Semmel Dissertation Enhancement Award from the Department of Special Education, Peabody College, Vanderbilt University. This study was registered on the Open Science Framework ( https://doi.org/10.17605/OSF.IO/HJ9MK ). We sincerely thank our coders Georgina Cisneros, Monica Alonso, Gabriela Conde, Vanessa Schor, and Kelsey Dillehay for their contributions to this project.

Author information

Natalie S. Pak

Present address: Department of Communication Sciences and Disorders, University of South Florida, Tampa, FL, USA

Authors and Affiliations

Department of Special Education, Peabody College, Vanderbilt University, Nashville, TN, USA

Natalie S. Pak, Tatiana Nogueira Peredo, Ana Paula Madero Ucero & Ann P. Kaiser

You can also search for this author in PubMed   Google Scholar

Contributions

NSP contributed to the study conceptualization, methodology, data collection, writing original draft, project administration, analysis. TNP contributed to the study conceptualization, methodology, funding acquisition, writing review & editing, supervision. APMU contributed to the study conceptualization, data collection, writing review & editing. APK contributed to the study conceptualization, methodology, writing review & editing, funding acquisition, supervision.

Corresponding author

Correspondence to Natalie S. Pak .

Ethics declarations

Conflict of interest.

The intervention evaluated in this study was developed and adapted by authors of this paper. The study was completed for the dissertation of the first author in partial fulfillment of degree requirements.

Additional information

Publisher's note.

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ .

Reprints and permissions

About this article

Pak, N.S., Peredo, T.N., Madero Ucero, A.P. et al. EMT en Español Para Autismo : A Collaborative Communication Intervention Approach and Single Case Design Pilot Study. J Autism Dev Disord (2024). https://doi.org/10.1007/s10803-024-06322-5

Download citation

Accepted : 12 March 2024

Published : 13 April 2024

DOI : https://doi.org/10.1007/s10803-024-06322-5

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Early language intervention
• Single case
• Find a journal
• Publish with us
• Track your research

  Journal of Business and Administrative Studies Journal / Journal of Business and Administrative Studies / Vol. 10 No. 2 (2018) / Articles (function() { function async_load(){ var s = document.createElement('script'); s.type = 'text/javascript'; s.async = true; var theUrl = 'https://www.journalquality.info/journalquality/ratings/2404-www-ajol-info-jbas'; s.src = theUrl + ( theUrl.indexOf("?") >= 0 ? "&" : "?") + 'ref=' + encodeURIComponent(window.location.href); var embedder = document.getElementById('jpps-embedder-ajol-jbas'); embedder.parentNode.insertBefore(s, embedder); } if (window.attachEvent) window.attachEvent('onload', async_load); else window.addEventListener('load', async_load, false); })();  

Article sidebar.

Article Details

Main article content, determinants of project implementation delay: the case of selected projects financed by development bank of ethiopia, tadesse tulu.

The objective of this study is to identify the major determinants of project implementation delay. The research targeted projects financed by the Development Bank of Ethiopia. The independent variables causing project implementation delay are poor project initiation, poor project planning/design system, improper implementation, poor project monitoring, evaluation and controlling system, poor communication, improper project closure, and the dependent variable is project delay. The study considered 125 projects through stratified sampling method from projects financed by the Bank. Data were collected from randomly selected project managers using structured questionnaire and secondary data were also used. Data were analyzed using linear regression method. According to the findings, a strong, positive and significant relationship was observed between delay factors considered as independent variables and project delay. Among the six delay factors (poor project initiation, poor project planning/design system, improper implementation, poor project monitoring, evaluation and controlling system, poor communication and improper project closure), poor project initiation was identified and concluded as the determinants with the highest influence on project completion delay. So that any business initiators should select project those are more familiar and interesting for them and scope of project should be established, controlled and must be clearly defined and be limited.

AJOL is a Non Profit Organisation that cannot function without donations. AJOL and the millions of African and international researchers who rely on our free services are deeply grateful for your contribution. AJOL is annually audited and was also independently assessed in 2019 by E&Y.

Your donation is guaranteed to directly contribute to Africans sharing their research output with a global readership.

• For annual AJOL Supporter contributions, please view our Supporters page.

Journal Identifiers