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Case study: ‘He’s a 10-year-old child with disabilities . . . I can’t see how isolating helps’

Debbie kennedy says the regular use of seclusion has worsened her son’s behaviour.

case study of a disabled child

Dylan Kennedy (10) with his mother Debbie Kennedy at home in Dublin. Photograph: The Irish Times

Debbie Kennedy accepts her 10-year-old son can be difficult to handle on occasion.

He’s autistic and has been diagnosed with attention deficit hyperactivity disorder.

There are times when he gets frustrated, angry and stressed. Equally, she says, he can be calmed down quickly with simple interventions.

“He’s very intelligent,” says Kennedy.”He could tell you anything about any car. He loves Top Gear . . . when he does act out, I can control him with one hand or distract him.”

But she says the past past two years have been marked by a sharp deterioration in his behaviour. She puts much of this down to what she says was the overuse of seclusion at school to control his behaviour.

In all, she estimates he was placed in a seclusion or “time-out” room on more than 30 occasions over a two-year period.

While in most cases she was told they were for short periods of time, she maintains that on a several occasions he was placed there for up to two hours at a time.

“In order to help a vulnerable child like Dylan manage his emotions and control his behaviour, he needs support, guidance and explanation,” she says.

“If he’s isolated from others, without guidance or support, I can’t see how that helps. In fact, it’s a more frightening experience – especially for a child with disabilities.”

Benincasa Special School in Blackrock, Co Dublin, said that while it was not in a position to comment on Dylan's individual case, the school had always acted "properly and in accordance with good practice at all times".

In line with its policies, seclusion was only ever used as a measure of last resort and where a child was disruptive to the point of posing an imminent danger to themselves or others.

Kennedy, however, feels the school was too quick to seclude her son and says he regularly came home in tears after being placed in the room, or isolated from the wider class.

“He would spend hours crying, saying how much he wanted to die and felt he wasn’t good enough.”

She also feels he was placed in the room on foot of relatively minor incidents, like throwing a pencil against a blackboard or refusing to do work.

School records, however, show there were occasions when he kicked or punched staff. On one occasion, he is said to have raised a chair in the air, before it was taken from him.

The seclusion room – based on photographs taken by Dylan’s mother – is a small bare room with no furniture.

There is a window with metal bars on the outside. The door has no handle on the inside and there is a peephole for staff.

The school said a staff member was present outside the seclusion room, monitoring the student, at all times.

“The seclusion room is designed with regards to the health and safety of the student in question. The room does not contain certain furniture as such items are often considered safety hazards to both the student or staff members,” it said.

Kennedy ended up withdrawing permission for her son to be placed in the room. Afterwards, she says she would receive phone calls from 9.10am onwards asking her to collect him.

He ended up being taught at home by his mother for long periods and resumed school on a limited basis.

She is careful to say Dylan enjoyed several successful years at his special school prior to this and many staff went out of their way to help and support him. “I couldn’t speak highly enough of them.”

But she feels the use of seclusion has left a damaging legacy which Dylan is still coming to terms with.

“He needs therapy after all that’s happened. We can be out having fun and he’ll mention what happened to him,” she says.

“He is the most caring and affectionate boy. He’s clever and funny and has a huge obsession with cars. I wouldn’t change him for anything.”

Carl O'Brien

Carl O'Brien

Carl O'Brien is Education Editor of The Irish Times. He was previously chief reporter and social affairs correspondent

IN THIS SECTION

Study shows declining wellbeing and high rates of self-harm among teens, putting barbie on the leaving cert isn’t dumbing down the english curriculum. it’s the perfect match, ‘an animal wouldn’t be treated this way’: 35% of children with disabilities secluded or restrained at school, poll shows, conviction, clear argument and humour: the secrets of successful debate speeches, my son is studying a subject outside school for the leaving cert. how can he submit his coursework, when he named a brand of jacket associated with the criminal fraternity, i lost all sympathy for him, miriam lord: td hits boiling point amid claims of ‘talking down’ to ‘a female deputy’, ‘single and fabulously fertile was how i was. in a loving relationship and painfully infertile is how you find me’, row breaks out between two oireachtas committees investigating rté, irish scientists discover why people with long covid can suffer ‘brain fog’, latest stories, funding remains top challenge for start-ups and growing companies, survey finds, ireland misses out on bid to host new eu anti-money laundering agency, ireland braced for a stern test in italy, year of living dangerously — frank mcnally on the madness that was britain in 1974, peter o’mahony and conor murray offered contracts by munster and ireland.

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Child disability case studies: an interprofessional learning opportunity for medical students and paediatric nursing students

Affiliation.

  • 1 Centre for Child and Adolescent Health, University of Bristol, Bristol, UK. [email protected]
  • PMID: 17661885
  • DOI: 10.1111/j.1365-2923.2007.02800.x

Context: We describe an interprofessional learning (IPL) opportunity for pre-qualification medical and paediatric nursing students using community-based case studies of disabled children and their families.

Methods: A total of 160 students were randomly allocated into interprofessional and uniprofessional pairs. Each pair visited a disabled child at home and school and presented their experience to the rest of the group. Quantitative and qualitative evaluation methods were used to explore the learning experience. Data collection tools included a scale measuring attitudes towards IPL, which was completed by all students before and after their visits and focus groups.

Results: The value of the community setting and independent working of the case study was appreciated by the students. The intimacy involved in working in IP pairs demonstrated both positive and negative features. Nursing students showed more open and positive attitudes towards IPL than medical students. Nursing students in IP pairs appear to have benefited most from the exercise, notably in terms of confidence and self-esteem. Professional differences in communication skills and approach were identified as particular learning points for all students.

Conclusions: The added value of combining quantitative and qualitative research methods is well demonstrated by this study. Learning opportunities from the case study were greater as a result of working interprofessionally. Student attitudes towards IPL and professional stereotyping changed as a result of this IPL exercise. The importance of the social context of learning and the contact hypothesis are supported by our findings.

Publication types

  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't
  • Attitude of Health Personnel
  • Disabled Children*
  • Education, Medical, Undergraduate / methods*
  • Education, Nursing / methods*
  • Interprofessional Relations
  • Pediatric Nursing / education*
  • Students, Medical / psychology
  • Students, Nursing / psychology
  • Surveys and Questionnaires

Disability and Health Stories from People Living with a Disability

  • Nickole's Story
  • Jerry's Story
  • Justin's Story
  • Suhana's Story

Real Stories from People living with a Disability

Nickole cheron’s story.

Photo: Nickole Chevron

In 2008, a rare winter storm buried Portland, Oregon under more than a foot of snow. The city was gridlocked. Nickole Cheron was stuck in her home for eight days. Many people would consider that an inconvenience. For Nickole, whose muscles are too weak to support her body, those eight days were potentially life-threatening.

Born with spinal muscular atrophy, a genetic disease that progressively weakens the body’s muscles, Nickole is fully reliant on a wheelchair and full-time caregivers for most routine tasks. Being alone for eight days was not an option. So Nickole signed up for “ Ready Now! pdf icon [PDF – 4.8MB] external icon ,” an emergency preparedness training program developed through the Oregon Office of Disability and Health external icon .

“The most important thing I learned from ‘Ready Now!’ was to have a back-up plan in case of an emergency situation ,” she said. “When I heard the snow storm was coming, I emailed all my caregivers to find out who lived close by and would be available. I made sure I had a generator, batteries for my wheelchair, and at least a week’s supply of food, water and prescription medication.”

Nickole said the training was empowering, and reinforced her ability to live independently with a disability. She felt better informed about the potential risks people with disabilities could encounter during a disaster. For example, clinics might close, streets and sidewalks might be impassable, or caregivers might be unable to travel.

Among the tips Nickole learned from Oregon’s “Ready Now!” training are:

  • Develop a back-up plan. Inform caregivers, friends, family, neighbors or others who might be able to help during an emergency.
  • Stock up on food, water, and any necessary prescription medications, medical supplies or equipment. Have enough to last at least a week.
  • Make a list of emergency contact information and keep it handy.
  • Keep a charged car battery at home. It can power electric wheelchairs and other motorized medical equipment if there is an electricity outage.
  • Learn about alternate transportation and routes.
  • Understand the responsibilities and limitations of a “first responder” (for example, members of your local fire department of law enforcement office) during a disaster.

“This training shows people with disabilities that they can do more to triage their situation in a crisis than anyone else can,” she said. “‘Ready Now!’ encourages people with disabilities to take ownership of their own care.”

CDC would like to thank Nikole and the Oregon Office of Disability and Health external icon for sharing this personal story.

Learn about emergency preparedness for people with disabilities »

Jerry’s Story

Photo: Jerry talking with his doctor

Jerry is a 53 year old father of four children. He’s independent, has a house, raised a family and his adult kids still look to him for support. Jerry recently retired as a computer programmer in 2009, and competes and coaches in several sports. This “healthy, everyday Joe, living a normal life” has even participated in the Boston Marathon. Jerry also has had a disability for over 35 y ears. In 1976 on December 3 (the same day that International Persons with Disabilities Day is recognized) Jerry was hit by a drunk driver. The accident left him as a partial paraplegic.

Jerry’s life is not defined by his disability. He lives life just like anyone else without a disability would live their life. “There’s lots I can do, and there are some things that I can’t do,” said Jerry. “I drive, I invest money. I’m not rich, but I’m not poor. I enjoy being healthy, and being independent.”

As a person with a disability, however, Jerry has experienced many barriers. Recovering from recent rotator cuff surgery, his rehabilitation specialists “couldn’t see past his disability”, administering tests and delivering additional rehabilitation visits that a person without a disability wouldn’t receive. He once was being prepared for surgery when a nurse proclaimed “he doesn’t need an epidural, he’s a paraplegic.” Jerry had to inform the nurse that he was only a partial paraplegic and that he would indeed need an epidural.

Jerry was in line at an Alabama court house to renew his parking permit and also renew his son’s registration. He watched a worker walk down the line and ask people “what do you need?” When she got to Jerry and saw his wheelchair, he was asked “who are you here with?” And Jerry finds it difficult to go to concerts and baseball games with a large family or friends gathering, because rarely are handicap-accessible tickets available for more than two people.

Jerry has seen a lot in over 35 years as someone living with a disability. He’s seen many of the barriers and attitudes towards people with disabilities persist. But he’s also seen many positive changes to get people with disabilities physically active through recreational opportunities such as golf, fishing and even snow-skiing. There are now organizations such as Lakeshore Foundation external icon – where Jerry works part-time coaching youth basketball and track – that provide recreational opportunities.

Jerry states: “I don’t expect the world to revolve around us. I will adapt – just make it so I can adapt.”

Justin’s Story

Justin meeting with colleague in his office

Justin was first diagnosed with a disability in the form of ADD (attention deficit disorder, now known as ADHD, or attention-deficit/hyperactivity disorder) at the age of 5 years. The diagnosis resulted in his removal from a regular classroom environment to special education courses. Justin’s parents were informed by Justin’s educators that he probably wouldn’t graduate high school, much less college.

Years later, as a young adult, Justin developed Meniere disease (an inner ear disorder), which affected his hearing and balance. The onset of the disorder left Justin with the scary reality that he could permanently lose his hearing at any time. Justin recalled a former supervisor taking advantage of this knowledge with an inappropriate prank: While speaking in a one-on-one meeting, the sound from the supervisor’s mouth abruptly halted, while his lips continued to move. Justin thought he had gone deaf – until the supervisor started laughing – which Justin could hear. Behaviors like the above took its toll on Justin’s confidence – yet, he knew he could contribute in society.

Spurred in part by adversity, Justin went back to school, earned a business degree, and shortly after, entered the commercial marketing industry. However, despite his education and experience, Justin was still regularly subject to the same stigma. Many of Justin’s work experiences over the course of his career left him feeling ashamed, guilty, offended, and sometimes, even intimidated. Rather than instilling confidence, it left him demoralized – simply because he was differently abled.

In July of 2013, everything changed for Justin. He joined the Centers for Disease Control and Prevention working as a contractor in the Division of Human Development and Disability at the National Center on Birth Defects and Developmental Disabilities. Justin’s colleagues put an emphasis on making him feel comfortable and respected as a member of a diverse and productive workforce. They welcomed Justin’s diversity, positively contributing to his overall health.

The mission of the Division of Human Development and Disability is to lead public health in preventing disease and promoting equity in health and development of children and adults with or at risk for disabilities. One in two adults with disabilities does not get enough aerobic physical activity 1 , and for Justin, regular physical activity is important to help him combat potentially lethal blood clots due to a genetic blood clotting disorder that he has. Every working hour, Justin walks for a few minutes, stretches, or uses his desk cycle. Justin also participates in walking meetings, which he believes leads to more creative and productive meetings.

Stories such as Justin’s are reminders that employment and health are connected. CDC is proud to support National Disability Employment Awareness Month every October. The awareness month aims to educate about disability employment issues and celebrate the many and varied contributions of America’s workers with disabilities.

Suhana’s Story

Suhana Alam & Shahrine Khaled (sisters)

Suhana has a sister, Shahrine, who is older by 18 months. While Shahrine’s mother was pregnant with Suhana, their uncle came to town for a visit. During the visit, their uncle was quick to notice that Shahrine did not seem to be talking at an age appropriate level or respond when called upon. Shahrine would also turn up the volume on the television and radio when others could hear it without difficulty. Shahrine’s parents thought that her speech development and behavior were normal for a toddler, but thanks to the uncle expressing his concerns, the family soon took action. A hearing test found that Shahrine was hard of hearing.

Due to Shahrine’s diagnosis, Suhana received a hearing screening at birth and was found to be hard of hearing, as well. Had it not been for the concerns raised by the children’s uncle, not only would Shahrine’s hearing loss have possibly gone on longer without being detected, but Suhana would most likely not have had a hearing screening at birth.

As a result of their early diagnoses, Suhana and Shahrine’s parents were able to gain the knowledge they needed to make sure both of their children could reach their full potential in life. They had access to early services from a team of physicians, speech therapists, counselors, and teachers.

Suhana credits her parents for her own successes, saying that she couldn’t have made it as far as she has without their support and patience. Today, Suhana is employed at the Centers for Disease Control and Prevention (CDC) as an epidemiologist with the agency’s Early Hearing Detection and Intervention (EHDI) program. All children who are deaf or hard of hearing receive critical services they need as a result of the EHDI program, which funds the development of data systems and provides technical assistance to help improve screening, diagnosis and early intervention for these infants. When children who are deaf or hard of hearing receive services early, they are more likely to reach their full potential and live a healthy, productive adult life.

CDC is proud to support National Disability Employment Awareness Month every October. The goals of the awareness month are to educate the public about disability employment issues and celebrate the many and varied contributions of America’s workers with disabilities.

  • Centers for Disease Control and Prevention. Vital Signs. [updated 2014 May 6; cited 2014 October 10] Available from: https://www.cdc.gov/vitalsigns/disabilities/

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Daily Life and Challenges Faced By Households With Permanent Childhood Developmental Disability in Rural Tanzania – A Qualitative Study

  • ORIGINAL ARTICLE
  • Open access
  • Published: 02 October 2021
  • Volume 34 , pages 471–490, ( 2022 )

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  • Joëlle Castellani 1 ,
  • Omari Kimbute 2 ,
  • Charles Makasi 2 ,
  • Zakayo E. Mrango 2 ,
  • Aggie T. G. Paulus 1 ,
  • Silvia M. A. A. Evers 1 ,
  • Pip Hardy 3 ,
  • Tony Sumner 3 ,
  • Augusta Keiya 4 ,
  • Borislava Mihaylova 5 , 6 ,
  • Mohammad Abul Faiz 7 &
  • Melba Gomes 8  

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Severe developmental disability in children affects the life of the child and entire household. We conducted a qualitative study to understand how caregivers manage severe developmental disabilities in children in rural Africa. Families and six children (out of 15 children) who had serious permanent sequelae from a cerebral infection in Handeni, Tanzania, were contacted and invited to a workshop to recount their experience living with severe developmental disabilities. After consent, individual interviews were conducted first through recording of individual digital stories and then through individual semi-structured interviews. Pre-determined key categories were used to analyse the data. Our results showed that developmental disabilities required constant care and reduced the autonomy of the children. Schooling had not been attempted or was halted because of learning problems or inability to meet specialized school costs. Parents were under constant physical, emotional and financial stress. Their occupational earnings decreased. Some families sold their assets to survive. Others began to rely on relatives. Understanding the consequences of developmental disability helps to identify where social support should be focused and improved.

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Severe developmental disability in children alters a child’s life and that of the family but the consequences have rarely been detailed. In developing countries, the impact might be greater because of poverty, difficult living conditions and poor access to care and rehabilitation. Consequently, children with severe developmental disability may have lower school attendance (Eide & Kamaleri, 2009 ; Filmer, 2008 ; Trani & VanLeit, 2010 ), lower educational attainment (Filmer, 2008 ; Mont & Cuong, 2011 ; Trani & Loeb, 2012 ) and fewer adult employment opportunities (Mitra, 2008 ; Mitra & Sambamoorthi, 2008 ; Trani & Loeb, 2012 ). Families with disability are generally poorer (Filmer, 2008 ), have fewer possessions (Mitra et al., 2011 ; Palmer et al., 2012 ), live in worse conditions (Eide & Kamaleri, 2009 ; Loeb & Eide, 2004 ) and experience a higher level of stress than families without disability (Mobarak, 2000 ). Disability is reported to tip households into poverty and transfer poverty to the next generation (Yeo & Moore, 2003 ).

Research on developmental disability has usually been quantitative, classifying the short and long-term clinical, neurological and cognitive impairments (Bangirana et al., 2016 ; Birbeck, 2013 ; Idro et al., 2016 ; Khandaker et al., 2014 ; Michaeli et al., 2014 ). The economic consequences for different types of disabilities have also been quantified for patients, households (Eide & Kamaleri, 2009 ; Filmer, 2008 ; Lamichhane & Kawakatsu, 2015 ; Trani & Loeb, 2012 ) and caregivers (Cheshire et al., 2010 ; Dambi et al., 2015 ; Sawyer et al., 2011 ). Challenges faced by caregivers and coping strategies to overcome these barriers have been described but there are quite limited data on the burden of caring for children with developmental disabilities in rural Africa, and how this burden changes as the child develops (Gona et al., 2011 ; Hartley et al., 2005 ; McNally & Mannan, 2013 ). We carrried out a qualitative study of adolescent children with serious permanent developmental sequelae ranging from major cognitive impairments to severe physical restrictions, or both to document the perceptions of caregivers on (1) their child’s development, (2) the treatment, (3) their emotional and physical burden, (4) their challenges and (5) their coping strategies over a 10-year period after the initial sequelae.

Study Participants

In 2014, the families of six children (out of 15 children) with persistent sequelae after a cerebral infection that had occurred at least 10 years earlier were asked for consent to meet, recount their stories and be interviewed about their lives in a 2-day workshop. All six parents/guardians consented and were reimbursed for accommodation, meals and transport costs.

The six children (four females and two males) were aged between 9 and 13 years (Table 1 ). Four children were accompanied by their mother, one by her aunt and one by his father. Two parents were married, three were separated or divorced and one was widowed. Five children had either convulsions or coma or both in the episode that caused developmental disabilities. Except for one child who had been hospitalized (child 4), none of the other children reported any hospital admissions since the initial episode, although they experienced uncomplicated malaria episodes that did not require hospital admission (child 1: 1 episode; child 3: 5 episodes; child 5: 4 episodes).

Current Developmental Disabilities

All six children had one or more profound physical and/or cognitive disabilities (Table 2 ). Child 1 had limited cognition, was unable to speak, could not follow instructions and was reported to play only with much younger children. Child 2 could only walk on her knees and had elbow constrictions in her left arm. Child 3 had motor problems, abrupt changes of behaviour and partial hearing loss. Child 4 had epilepsy, dysconjugate gaze, impaired gait, made unsteady movements and frequently fell, could not articulate words, was doubly incontinent and was described as having limited cognition. Child 5 had problems with the right upper and lower limbs. Child 6 could not straighten his legs and therefore could not stand, had limited vision and hearing and was unable to speak; he was diagnosed with epilepsy and was described as having restricted cognition.

Data Collection

The data were first collected through individual stories of the families, which were digitally recorded (Patient Voices, n.d. ) and then through an individual semi-structured interview. All data were collected during the 2-day workshop.

Digital individual stories

Each parent/guardian was free to choose specific moments of life regarding the illness/developmental disability of their child. They outlined what they wanted to say in their own words and were permitted to focus on their feelings, the impact of the illness/developmental disability and the challenges they faced associated with caring for a child with developmental disabilities (Patient Voices, 2014 ). The individual digital stories were recorded in Swahili by the parents/guardians and then translated and recorded in English by a local researcher fluent in both languages.

Semi-structured interviews

Once the digital stories were recorded, an individual semi-structured interview with parent–child pairs on the challenges of living with and caring for a child with developmental disabilities was completed. For this purpose, a questionnaire was used, containing open questions on seven topics on how developmental disability affects daily life: worries of the parents/guardians; the physical efforts of the carer; the effects of developmental disability on carer’s time; the child’s needs and medications used; social relationships; discipline/mood; and financial issues (Table 3 ). The interview questions and the seven topics were based on previous literature (Davis et al., 2010 ; Gona et al., 2011 ; Hartley et al., 2005 ; Murphy et al., 2007 ) and on the Behaviour Questionnaire for Parents – a questionnaire developed in East Africa adapted from the Kaufmann Assessment Battery for Children (Kaufman & Kaufman, 2004 ) which assesses behaviour difficulties in the home. Open questions (developed in English, translated into Swahili) on the seven topics, asked in the same sequence, guided the interview. The six interviews were conducted in Swahili by only one experienced bilingual researcher and each interview lasted about 30 minutes. Answers were immediately translated into English and transcribed, with clarifications on meaning sought, as necessary, during the workshop.

Data Analysis

We analysed the data from both the digital stories and the semi-structured interview by using key categories that were pre-determined according to the seven topics of the semi-structured interview and previous research (Davis et al., 2010 ; Gona et al., 2011 ; Hartley et al., 2005 ; Murphy et al., 2007 ). Each digital story and interview transcription was read several times. Meaning units were extracted by the first author and copied into a spreadsheet where they were condensed and assigned a code. Each code was then placed under a pre-determined key category into a hierarchical frame.

The results are presented into five main themes, namely: (1) the child’s development, (2) the treatment, (3) the emotional and physical burden of the parents/guardians, (4) the challenges and (5) the coping strategies (Table 4 ). Each main themes were then separated into sub-topics.

Child’s Development

Three main sub-topics emerged from the data: (1) autonomy, (2) communication and understanding and (3) behaviour and socialization.

The data showed that developmental disability affected the child’s autonomy. Most children with developmental disabilities were dependent on their parents/guardians who fed, dressed and bathed them.

For children with only physical disabilities who are aware of their disabilities, a lack of autonomy led to sadness, frustration, depression and anger especially when children were constantly dependent on somebody else for toileting and unable to do things that children of their age would normally do.

Communication and understanding

For children with limited mental capacity, understanding or retaining information was difficult. In some cases, communication was not possible when children were unable to speak and could not communicate that they were hungry, or needed to go to the toilet or that they were not feeling well. Constant supervision was often required because if left unattended, even for a few minutes, children might leave home and not know how to return.

Behaviour and socialization

The guardians described how developmental disabilities affected the behaviour and socialization of their child. Serious social problems were mentioned in relation to children with mental disabilities and epilepsy. Children with epilepsy or mental disabilities were socially disengaged. They exhibited unsociable behaviour and did not respond in ways which were normally expected; their responses and changes in facial expressions suggested that they did not know which behaviours were appropriate and which were not. This apparently led to social interaction problems with both adults and children.

For children with epilepsy or with frequent convulsions and emotional outbursts, mood changes were sudden and could greatly impact on the quality of life of the children and their families. Unpredictable outbursts were often difficult to control. Even for parents of children who are not mentally disabled, the attitude of their child might be unpredictable, extreme and uncontrollable which made it difficult to manage.

This topic was separated into two sub-topics: (1) epilepsy and (2) convulsions.

Only one child who had epilepsy received regular treatment (child 4). Drugs for epilepsy are usually free and available from healthcare facilities. However some healthcare facilities, especially those that can manage epileptic cases, are located far away from communities, and therefore, access to treatment is difficult. Parents must walk long distances and may not have funds for transport.

Convulsions

The data showed that parents were not sure what to do when their child convulsed. Often parents did nothing or just put water on the child. However for one mother, traditional medicine was a solution. She was told by a traditional healer that the convulsions were caused because evil spirits were looking for her child, and therefore it was important to deal with them by changing the name of the child before healing could occur.

Emotional and Physical Burden of the Parents/Guardians

This topic was separated into two sub-topics: (1) psychic pain and (2) physical health.

Psychic pain

All parents/guardians expressed fear, stress, depression, sadness and/or worry because of the developmental disability of their child. The normal stresses and worries of bringing up a child with developmental disability became even more important when the father had left the household and/or when the parents did not know if the condition of their child would improve.

With age and the hormonal and physical changes of adolescence, more difficulties were anticipated. Bringing up a female child was associated with increased level of stress, fear and worries as parents were concerned that their child would never be able to protect herself from her lack of understanding on sexual matters.

Fear of not being available or not knowing what to do when convulsions occurred was often expressed by carers. Convulsions caused the family to panic or be extremely sad, and parents/guardians said they feared the worst when the epileptic seizures ceased and the child fell into a deep sleep of unconsciousness.

Physical health

Parents/guardians described physical fatigue and back and/or chest pain caused by children who were unable to walk because this meant that they had to carry their child, usually on their back (children 2, 4 and 6). In addition, some mothers mentioned that they were often exhausted because they had to sleep in the same bed as their child which created discomfort.

This section had three main topics: (1) work and income, (2) poverty and (3) schooling.

Work and income

The child’s developmental disability influenced household’s life and limited income-generating activities of the family. The time required to take care of the child meant reduced time to work to earn an income and often the parents had to choose whether they should take care of their child or whether they should continue to work. The difficulties increased when the mother became the only sole economic provider because the father left the household.

The data showed that because of a reduction in work, income decreased and households had a lower quality of life. The parents mentioned that they did not have the necessary funds to buy basic necessities such as food, medicine, school materials, furniture or clothes. In some cases, developmental disability pushed households into extreme poverty.

Only two children (children 2 and 3) had ever gone to school; neither could continue (Table 1 ). Child 3, who had partial hearing loss, motor problems and mental disability, went to two different mainstream (normal) schools but as she was not able to cope, the schools did not wish her to continue. Because it is difficult for a child with developmental disabilities to go to a normal school, parents stated that they would like to enrol their child in a specialized school. However, education in such schools is fee based and unaffordable for families living in rural areas, especially when the mothers are divorced and the sole provider of the household. This was the case for child 2. She had started in a (specialized) boarding school, which did not require fees for the first year but was not allowed to stay beyond a year because her mother could not pay the tuition fees for the second year.

For the other four children – one with severe cognitive disability (child 1), two with epilepsy, limited cognition, physical disability and speech impairments (children 4 and 6) and one with severe lower limb weakness and restricted upper limb abilities (child 5) – school was never initiated (Table 1 ). For child 5, the walking distance to the school contributed to a decision not to enrol the child in school.

Coping Strategies

Coping strategies was separated into two sub-topics: (1) dealing with work and (2) generating cash quickly.

Dealing with work

Most parents/guardians had to reduce their working time or had to stop working. In order to continue to work and generate an income, a solution mentioned by a widow mother (child 6) was to lock her epileptic child at home (who was moody and jumped around the house) while she was working at the farm. However, this strategy worked for some time when the child had fewer fits and was younger, but when the child started to convulse more often, he became a danger to himself when left alone. Another mother (child 2) who had to walk every day to her farm (1 hour each way) by carrying her child who could not walk on her back found a radical solution to continue working by moving home to her farm even if this meant a decrease in her quality of life. For other families, trying to keep the same level of work (and income) as before was made possible through the help of siblings although this implied the siblings dropped out of school.

Generating cash quickly

The data revealed that in order to survive, some parents/guardians decided to sell their personal assets. For others, the extended family was an important source of finance.

Three major consequences of developmental disability emerged from the data: significant emotional and physical burden of caring for children with developmental disabilities, a decrease in work and unrelenting financial pressure on family income, assets and savings, and no or reduced school attendance for the child.

Caring for a child with developmental disabilities placed an emotional and physical burden on families. Children were dependent, needed assistance with daily tasks and activities and had little prospect of later improvement. Children with epilepsy had unpredictable seizures. Parents felt the constant pressure of being physically present for their dependent child. Consequently, as confirmed by other studies, all parents were exhausted, stressed, depressed and worried (Cheshire et al., 2010 ; Dambi et al., 2015 ; Davis et al., 2010 ; Sawyer et al., 2011 ). Some expressed desperation. Difficulties in communicating and understanding the needs of children with mental disability increased parental stress, anxiety, and depression both about the current circumstances (Hartley et al., 2005 ) as well as about the future. As mentioned elsewhere, physical disability increased the physical burden of carers looking after a child (Brehaut et al., 2004 ; Dambi et al., 2015 ; Davis et al., 2010 ; Hartley et al., 2005 ). Stress and distress were voiced by mothers whose spouse had abandoned the household, leaving them to support the whole family. Long-term developmental disability appeared to damage carers’ health, destroy family structures, and reduce the quality of family life (Mobarak et al., 2000 ).

Developmental disability has financial costs. Parents either left their occupations or worked less because their child required full-time care. As a result of a reduction in occupational work, household income decreased leading to financial problems in purchasing necessities such as food or clothes (Gona et al., 2011 ; Hartley et al., 2005 ; McNally & Mannan, 2013 ). To cope with extra expenses, the families reported selling their assets thus pushing households who were already poor into extreme poverty (Mitra & Sambamoorthi, 2008 ; Yeo & Moore, 2003 ). Exiting from this poverty trap remains difficult as families may never have the necessary resources to do so.

Most children in our study never went to school. Children with epilepsy had difficulties in attending normal schools especially when the epileptic seizures were frequent, unexpected, or were followed by coma, drowsiness, confusion, irritability, aggression, dizziness, loss of concentration, memory problems and mood swings. Seizures caused memory loss and confusion, and children appeared to have significant problems with learning, language or behaviour throughout their childhood, in addition to social stigma (bullying, anxiety, depression, self-consciousness). For both children with physical and/or cognitive disability, the distance to the school, and the lack of infrastructure, adequate learning materials and trained teachers, made access to normal schools even more difficult (ACPF, 2014 ). In Uganda, the negative attitude of normal schools contributed to lack of enrolment (Hartley et al., 2005 ). Specialized schools are usually fee-based and often inaccessible both physically and financially. Similar results were found in other studies in Tanzania and Uganda (Hartley et al., 2005 ; McNally & Mannan, 2013 ). Lack of education led to parental concerns about the future of their child (Hartley et al., 2005 ). Lower school participation led to lower educational attainment which translated into lower employment opportunities and lower income in adulthood (Filmer, 2008 ; Yeo & Moore, 2003 ).

To improve the quality of life of both children and households and reduce stress, the risk of depression, worries, and isolation, social support has been shown to be effective (Ainbinder et al., 1998 ; Bray et al., 2017 ; Kerr & McIntosh, 2000 ). However, the households only received family support. Social support can be found at specialized centres, such as community-based rehabilitation centres (Cameron et al., 2005 ; CCBRT, n.d. ), even in Tanzania. Free home-based therapies for children with physical and/or mental disabilities as well as regular home and school follow-up visits are offered (Cameron et al., 2005 ; CCBRT, n.d. ). Children are taught how to increase their independence (e.g. washing, moving from their bed to a chair) and how to help the household (e.g. washing the dishes) (Cameron et al., 2005 ). However, community-based centres are rare and most centres are located in major (urban) cities which are not accessible or expensive for households living in rural areas. Another option to support children with developmental disabilities and their families is the involvement of community rehabilitation facilitators to provide home visits, exercises and training in activities of daily living (ADL—i.e. eating; bathing; getting dressed; toileting; transferring and continence) (Chappell & Johannsmeier, 2009 ). This kind of intervention can provide ADL independence and increase social integration, self-esteem, self-confidence, mobility and acceptance of developmental disability (Chappell & Johannsmeier, 2009 ).

Our study is rare in examining how caregivers manage severe childhood developmental disabilities that occurred early in infancy and continued into adolescence without resolution. The ability to probe deeply through qualitative research on how developmental disability affects the family is a strength. Thematic saturation was achieved with the small number of children. However, the small number of children and parents interviewed does not provide a complete picture of the challenges in living with developmental disability. More topics might have emerged with a larger sample of parent–child pairs. A further limitation is that only one male guardian participated in the study and male views on the consequences of developmental disability, especially on stress, work and financial burdens, may differ from the views of female guardians. The qualitative interviews were not tape-recorded because ethical clearance was received only for recording digital stories (Patient Voices, 2014 ). Finally, only children with severely developmental disabilities took part in our research, and therefore, this study does not represent the challenges of caring for children with milder developmental disabilities.

Conclusions

Severe developmental disability affects not only the life of the child but that of the whole household. It increases physical, emotional and financial burdens of the child and carers. Children have very limited educational support—either from normal or specialized schools—and access to rehabilitative home-based support is inaccessible or unaffordable. Parental income is reduced because time for caring is increased and consequently households that are poor get pushed further into poverty.

Data Availability

The digital stories are available under the following link: https://www.patientvoices.org.uk/savingbrains.htm .

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Acknowledgements

We would like to thank all children and their parents who agreed to be interviewed.

This work was supported by the Grand Challenges Canada – Saving Brains Programme through the Mahidol Oxford Tropical Medicine Research Unit (MORU). This research was part of a larger project: “Long-term neurocognitive assessment of children following an episode of severe malaria: the artesunate suppository trial cohort”. The study funders played no role in designing the study, collecting, analyzing and interpreting the data, and writing the final report. BM acknowledges support by NIHR Oxford Biomedical Research Centre.

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Joëlle Castellani, Aggie T. G. Paulus & Silvia M. A. A. Evers

Kilosa Station, National Institute for Medical Research, Kilosa, Tanzania

Omari Kimbute, Charles Makasi & Zakayo E. Mrango

Patient Voices Programme, Pilgrim Projects Limited, Landbeach, UK

Pip Hardy & Tony Sumner

Dorcas Relief and Development, Handeni, Tanzania

Augusta Keiya

Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK

Borislava Mihaylova

Institute of Population Health Sciences, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK

Mahidol Oxford Tropical Medicine Research Unit (MORU), Mahidol University, Bangkok, Thailand

Mohammad Abul Faiz

UNICEF/UNDP/World Bank/WHO Special Programme for Research & Training in Tropical Diseases (TDR), World Health Organization, Geneva, Switzerland

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Correspondence to Joëlle Castellani .

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Castellani, J., Kimbute, O., Makasi, C. et al. Daily Life and Challenges Faced By Households With Permanent Childhood Developmental Disability in Rural Tanzania – A Qualitative Study. J Dev Phys Disabil 34 , 471–490 (2022). https://doi.org/10.1007/s10882-021-09809-6

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Accepted : 19 July 2021

Published : 02 October 2021

Issue Date : June 2022

DOI : https://doi.org/10.1007/s10882-021-09809-6

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Coercive Control

case study of a disabled child

Case study 4: Maria

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Maria is 24. She had a diving accident when she was 20, and now uses a wheelchair due to a physical disability. She has a 15-month old daughter, Sophia, with her long term partner, Graham. Sophia was recently subject to a referral to children’s services, who have contacted Adult Social Care to see whether they might be able to provide support to Maria. Graham is reported to not be happy about this.

This case study considers issues around survivors with physical disabilities; multiagency working, adult safeguarding and child protection; and support to EU migrants.

When you have looked at the materials for the case study and considered these topics, you can use the critical reflection tool and the action planning tool to consider your own practice.

Case details

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Maria, 24, lives with her 15 month old daughter, Sophia, and Sophia’s biological father, Graham (34). Maria came to live in London from Greece at the age of 18. Maria’s teenage years were difficult as her father was emotionally and physically abusive towards her and her mother. Maria took a business studies course and was involved in the University Diving club. She met Graham at the club and they have been together ever since.

When she was 20 equipment failure during one of the dives caused Maria to sustain a spinal cord injury. Maria was rehabilitated from hospital. With professional support she was able to regain much of her independence although she suffers from chronic pain as a result of the injury, and anxiety and depression related to this. She uses a wheelchair and was allocated an accessible ground floor flat owned by a local housing association. Maria was advised that giving birth could further disable her but she was determined to have her baby.

Graham moved into Maria’s flat when she told him that she was pregnant. Shortly after this she cancelled her contract with the domiciliary care agency. She said that Graham was able to do everything that she and the baby would need. Graham took time off work to be present at every ante-natal class. He works full time at a race track. He sometimes has to work late and he doesn’t always know until he gets there how long the shift will be.

There has been a referral to adult services from children’s services. Children’s services have been alerted to concerns raised by health staff about Sophia’s lack of development, low weight and being frozen in her emotional responses. Maria is reported to seem tired, wary and dishevelled and potentially in need of social care support to be an effective parent. The housing association had had complaints from neighbours about the family’s dogs’ waste covering the shared ‘play’ area and that they seemed dangerous. Graham is reported to be offended at the idea that they are not coping as he now manages the household as well as working.

In this section are two downloadable PDFs – one is a partly completed assessment form related to this case study, and another is an example of what a completed form could look like.

Suggested exercise

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Download the partly completed assessment as a PDF file (493KB)

Download the completed assessment as a PDF file (497KB)

Download the completed assessment as a PDF file (497KB)

Use the partly completed assessment form:

  • What actions would you discuss with Maria to ensure her immediate and longer term safety?
  • What precautions would you need to take to avoid putting her at higher risk of harm?
  • What is your analysis of the situation? Is coercive control occurring? What is the evidence of this?
  • What is your conclusion?

Download the resource as a PDF file (155KB)

Download the blank DASH_RIC as a Word .doc file (226KB)

The purpose of the DASH risk checklist is to give a consistent and simple tool for practitioners who work with adult victims of domestic abuse in order to help them identify those who are at high risk of harm and whose cases should be referred to a MARAC meeting in order to manage their risk. If you are concerned about risk to a child or children, Safe Lives recommend that you should make a referral to ensure that a full assessment of their safety and welfare is made.

There are two downloads on this page.

One shows a blank DASH risk checklist, with quick start guidance from Safe Lives. The key point is to remember that your professional judgement is key in making a decision about risk; a tool can help, but the score it comes out with is not definitive.

This is especially relevant when working with people with care and support needs, for whom some of the questions may not be relevant.

word icon

Download the case study DASH-RIC as a PDF file (206KB)

The other shows an example of a completed DASH relating to this case study, for you to critique and appraise.

Suggested exercise:

  • Read the case details and full assessment document for this case study.
  • Using the information contained, fill out a blank DASH risk assessment tool.
  • Discuss how you found it; did you have all the required information? Would you be able to get all the required information in practice? Would you make a referral to MARAC?

This section picks out three main topics from the case study featured. For Maria’s case study, the topics include:

Working with survivors with physical disabilities

Multi-agency working, adult safeguarding and child protection, support to eu migrants.

A selection of references, tools and further reading for each topic is below.

Studies focussing on domestic violence and the experiences of women with physical disabilities draw from survivors’ narratives that illustrate increased vulnerability to coercion and control:

‘ I mean, what normal wife would have all these professionals coming to the house and putting their hands all over her? All in the line of duty, but still—my body was for him alone . . .’ Bethany, a 36-year-old woman with multiple sclerosis, felt that her disability was an imposition on her husband; as a result, she felt obligated to sacrifice her home-based physical, speech, and occupational therapies … Bethany could not heal her disabled body; instead, she tried to limit its influence by surrendering her medical care. However, the abuse only escalated.’ (Rich, 2014:6) .

Findings from research:

People with care and support needs are at higher risk of domestic abuse and other forms of abuse:

  • Disabled women are twice as likely to experience violence as non-disabled women. (Hague et al, 2008)
  • Half of disabled women may have experienced domestic violence. The report criticises the ‘serious lack of research in this country on the experiences of disabled women survivors of domestic violence’ (Hague et al, 2007)

Less service provision:

  • Domestic abuse services – are few and far between, with scarce resources whilst awareness of disability is often inadequate
  • Disability services – domestic abuse is often not seen as an issue with a lack of training & information about domestic violence amongst staff compounded by a similar lack of resources. (Hague et al, 2008)

In conclusion, people with care and support needs are more vulnerable to domestic (& other forms of) abuse AND less likely to have access to the services and the protection that may be needed.

Violence and abuse – what can I do? Information for disabled or Deaf women : http://women-disabilities-violence.humanrights.at/sites/default/files/reports/gb_brochure_for_disabled_women_and_deaf_women.pdf

See tools, below:

  • Tool 1: Safety Planning checklist for professionals
  • Overarching tool on Making Safe Enquiries.  
  • Case study 4 Tool 2: Social Work Capabilities in Working with Disabled Women Survivors

Home Office Statutory Guidance highlights perpetrator behaviour which preys on the victim’s fear of losing their child and using such threats as a means of coercion and control:

‘A victim may be fearful of their children being taken away if they make a report and the perpetrator may have tried to convince them that this is the case ‘  (point 23: Home Office Guidance) .

Because of their condition mothers with physical disabilities and/or learning disabilities may be particularly fearful of losing their child to the abusing partner or of losing their child into the care of the local authority. In such instances the perpetrator, as carer of both the adult and child/children, can use coercion to heighten this fear. Communication between Children’s and Adult services is crucial when situations of coercion and control involve elements of both child and adult safeguarding, requiring both adult and child assessments. Here is one example of a joint policy on working with adults and children experiencing domestic abuse:

Working_Together_To_Safeguard_Adults_and_Children_from_Domestic_Abuse.pdf

In seeking to establish robust and regular channels of communication between agencies, Professor Marianne Hester devised the Three Planet Model which highlights the need to align the Domestic Violence planet (where the perpetrator’s behaviour is considered a crime and therefore involves criminal justice professionals), the Child Protection planet (which resides in the public and family law arena involving statutory child protection professionals and NSPCC), and the Child Contact planet (the private law arena involving CAFCASS professionals who consider the child’s right to contact with both parent/perpetrator and parent/DV survivor):

http://www.bris.ac.uk/news/2009/6703.html

Adding a further planet to the constellation – the ‘Adult Social Care’ planet – highlights the need for additional communication channels between Children’s and Adult services and Adult services and Adult safeguarding professionals:

  • Tool 3: The Four Planet model
  • Tool 4: Family Model for Assessment
  • See also: Topics and tools from Case study 5 (Betty) relating to using MARACs.

It is important to look at other structural issues that put people at risk alongside consideration of their care and support needs (see Intersectionality topic, case study 1 ). A number of reports signal a rise in hate crime towards EU migrants including attacks against their homes which, in their current situation, Maria and Sophia could find it difficult to escape from or to seek help:

Corcoran and Smith (2016) Hate Crime, England and Wales 2015/16

https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/559319/hate-crime-1516-hosb1116.pdf

The increase in hate crime in England and Wales after the EU referendum vote was reported in figures published by the National Police Chiefs’ Council (Oct, 2016) showing a 49% rise in hate crime incidents to 1,863 in the last week in July 2016 when compared with the previous year. The week after saw a record 58% increase in recorded incidents whilst later data showed that the increase in hate crime continued, although the level of increase then dipped.

In September 2016 The Guardian reported:

‘Sir Bernard Hogan-Howe, the Metropolitan police commissioner, told a hearing at London’s City Hall in September 2016 that hate crime was showing signs of decreasing after the sharp rise in June and July, but it had still not returned to pre-referendum levels… He added: ‘The absolute numbers are low, but we think it is massively under-reported [crime]. Sadly, people don’t tell us about the harassment and the abuse that we know will go on out there.’

Sophie Linden, London’s deputy mayor for policing, who was hosting the hearing, said she was still getting daily reports about hate crime in the capital. ‘It is worrying that it does not appear to have gone back down to pre-referendum levels.’

A survey by the Guardian found that  European embassies in Britain had logged dozens of incidents of suspected hate crime  and abuse against their citizens since the referendum:

https://www.theguardian.com/society/2016/sep/28/hate-crime-horrible-spike-brexit-vote-metropolitan-police

  • Tool 1: Checklist – Developing safety plans with adults with care and support needs experiencing domestic abuse

Professionals advising adults with care and support needs (referred to here as ‘adults’) and managing safety plans should follow the checklist of actions.

Tool 2: Social work capabilities in working with disabled women survivors

This tool is based on the recommendations drawn from disabled women’s suggestions for improvement in practice in Hague et al’s paper ‘Making the Links’ (2014: 26).

We have mapped the women’s seven suggestions to the domains of the Professional Capabilities Framework, and added our own suggestions on domains 6 and 9.

Tool 3: The four planets model

Based on Marianne Hester’s Three Planets model; with the addition of a fourth ‘planet’, Adult Social Care.

Consider all the different agencies who might be involved in a case like Maria’s.

Tool 4: Family model for assessment

You can use this tool to help you consider the whole family in an assessment or review.

Tool 1: Checklist - Developing safety plans with adults with care and support needs experiencing domestic abuse

Download the whole case study as a PDF file

Download the tool as a PDF file

  Professionals advising adults with care and support needs (referred to here as ‘adults’) and managing safety plans should:

  • Establish how the survivor can be contacted safely and seek their permission to pass this information onto all professionals in contact with them
  • Establish the location of the perpetrator, if separated from the adult
  • Establish if the perpetrator is the adult’s carer.
  • Obtain the survivor’s views about the level of risk
  • Determine methods to facilitate any existing child contact arrangements safely
  • Ensure that the survivor has the means to summon help in an emergency
  • Identify where a survivor might go if they have to leave quickly and what they will take with them
  • Encourage victims to report all incidents to the police or other organisations that will record the incident and maintain accurate and detailed records
  • With their permission, refer the survivor to organisations that provide specialist support and advice
  • Refer the case and details of the safety plan to a Multi-Agency Risk Assessment Conference (MARAC) in cases identified as high risk
  • Encourage the victim to seek professional advice about legal and financial matters and child contact
  • Inform survivors of criminal or civil law provisions which may be applicable, e.g., restraining or non-molestation orders
  • Make survivors aware of the potential pitfalls of social media use, e.g. identifying current location through status updates/geo-location systems on smartphones which automatically update to publicly display current location
  • Consider that victims with insecure immigration status, from minority ethnic communities, victims with disabilities or from socially isolated communities may fear contact with the police
  • Where appropriate and safe to do so, involve the survivors’ friends, family or neighbours in the safety planning process where appropriate and safe to do so
  • With permission, involve others professionals in the plan such as support workers, GPs, drug and alcohol services, mental health workers, schools etc.
  • Encourage the survivor to keep a diary (where you have established it is safe to do so).
  • Assess whether the adult has the mental capacity to make informed choices about how to protect themselves.
  • Consider coercive control and the new law. Consider if there is evidence of this – i.e. isolation, control, intimidation, financial abuse.
  • If you are aware that the adult is accessing other support services, consider who is offering specialised support for domestic abuse.
  • Be aware of safety and confidentiality particularly around sensitive documentation for the survivor.
  • Where the perpetrator is a caregiver, discuss how the survivor could continue to maintain their independence if they were to cease contact with the perpetrator.

people with disabilities in partner relationships

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Domain 1        Take advice from, and consult with, disabled women.

Domain 2        Take disabled women seriously and avoid being patronising.

Domain 3        Develop accessible services.

Domain 4        Do not threaten disabled women with institutionalisation if no refuge space is available. Develop good accessible alternative accommodation, both temporary and permanent, plus support to use it.

Domain 5        Be informed about disabled women’s needs.

Domain 6        Critically reflect on power relationships and intersectionality.

Domain 7        Provide accessible well-publicised domestic violence services (including refuge accommodation) that disabled women know about.

Domain 8        Develop disability equality schemes and reviews with input from disabled women.

Domain 9        Contribute to the learning of others who are working with disabled women survivors.

Hague, G et al (2008) Making The Links; disabled women and domestic violence . Bristol: Women’s Aid.

Download the whole case study as a PDF file (490KB)

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Below is an illustration of Marianne Hester’s Three Planets model; with the addition of a fourth ‘planet’, Adult Social Care.

What different perspectives and priorities do they bring?

You can use this tool when working with someone with care and support needs to discuss with them the agencies that can most usefully contribute.

Remember to use the principles of safe enquiry, and remember the limits of confidentiality and your responsibilities relating to child protection.

The Four Planet Model - click to view the image full-size

The Four Planet Model - click to view the image full-size

Download the family model for assessment as a PDF file (490KB)

Download the family model for assessment as a PDF file (490KB)

Image: Family model for assessment - click to view full size

Family model for assessment - click to view full size

Hague, Gill; Thiara Ravi K; Magowan Pauline; Mullender, Audrey (2008) Making the Links: Disabled women and domestic violence: Summary of findings and recommendations for good practice. Women’s Aid

Hague G Thiara R and Magowan P (2007) Disabled women and domestic violence: Making the links. An interim report for the Women’s Aid Federation of England . Women’s Aid

Rich, Karen (2014) My body came between us: accounts of partner-abuser women with physical disabilities. Journal of Women and Social Work , 1-16.

Woodin S, Shah S, Tsitsou L (2014) Access to specialised victim support services for women with disabilities who have experienced violence. University of Leeds. Available online:  http://women-disabilities-violence.humanrights.at/sites/default/files/reports/empirical_report_uk.pdf

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The Economic Costs of Childhood Disability: A Literature Review

Ahmed ramadan shokry shahat.

1 Quality and Accreditation Directorate, Ministry of Health, Sulaibikhat 13001, Kuwait

Giulia Greco

2 Department of Global Health and Development, London School of Hygiene and Tropical Medicine, Keppel Street, London WC1E 7HT, UK; [email protected]

Associated Data

This is a literature review; data is contained within the article.

Background: This literature review investigates the economic costs of childhood disability analysing methodologies used and summarizing the burden worldwide comparing developed and developing countries. Methods: Four electronic databases were searched. Studies were categorised according to country, perspective, methods of costing, disability category, and time horizon. Annual costs were converted to 2019 current US dollars then compared to the country’s per capita current health expenditure (CHE) and gross domestic product (GDP). Results: Of 2468 references identified, 20 were included in the review. Annual burden of childhood disability ranged ≈$450–69,500 worldwide. Childhood disability imposes a heavy economic burden on families, health systems, and societies. The reason for the wide range of costs is the variability in perspective, costs included, methods, and disability type. Conclusion: The annual societal costs for one disabled child could be up to the country’s GDP per capita. The burden is heavier on households in developing countries as most of the costs are paid out-of-pocket leading to impoverishment of the whole family. Efforts should be directed to avoid preventable childhood disabilities and to support disabled children and their households to make them more independent and increase their productivity. More studies from developing countries are needed.

1. Introduction

Around one billion (15% of the world population) have some level of disability according to the World Health Organization (WHO) and World Bank [ 1 , 2 ]. There is currently no reliable estimate for the number of disabled children around the world [ 3 , 4 ]; however, estimates vary between 0.4–12.7% [ 5 ]. This is partly due to differences in defining disability. The more accepted approach in defining disability is the “bio-psycho-social model” which defines disability not only based on the individual’s health condition, but rather the interaction between the health condition and contextual factors (environmental/personal) [ 1 ].

Research shows an association between poverty and disability [ 6 , 7 , 8 , 9 ] but the relationship is complex and moves in both directions. A disabled child has less access to schooling and lower probability of continuing to higher education which means less human capital accumulation leading to unemployment or lower paid jobs and inevitably leading to chronic poverty [ 1 , 10 , 11 , 12 ]. Childhood disability can also impoverish the household because of direct extra costs of caring for the disabled child (e.g., healthcare, wheelchair, child care) and indirect costs (e.g., job loss to care for the child or having to work part-time/ flexible hours) [ 6 , 13 , 14 , 15 , 16 , 17 ]. On the other hand, poverty is a risk factor for childhood disability. Poor nutrition and water sanitation, unsafe antenatal care, and high prevalence of preventable diseases and accidents among less advantaged individuals increases the risk of childhood and adult disability especially in developing countries [ 3 , 13 ]. There is also a big disparity between evidence arising from developed versus developing countries regarding the association between poverty and disability [ 1 , 3 , 6 , 10 ].

Cost of illness studies have been published since the late 1950s. Reference [ 18 ] in 1967, Dorothy Rice, proposed a model for cost of illness that differentiates direct and indirect costs [ 19 ]. The choice of what costs to include, in the present and in the future, is subject to debate [ 20 ]. The perspective of the costing study (patient/household, health system, or society) plays an important role in what costs to include or exclude from the analysis. Recent efforts have been made to provide guidelines for healthcare costing studies. The most notable is the “Reference Case for Estimating the Costs of Global Health Services and Interventions” by the Global Health Cost Consortium (GHCC) launched in 2016. The reference case aims at improving consistency and transparency of methods, assumptions, and reporting [ 21 ].

Previous reviews discussed the costs of disability in children [ 22 , 23 , 24 ] but none could calculate figures due to lack of consistency in methods for defining disability and estimation of costs. To the best of our knowledge, no reviews have compared developed vs. developing countries.

This research intends to be the first to study the costs of childhood disabilities comparing country, perspective, methods of costing, disability category, and time horizon. Beside reporting costs, we analyse the methodologies used in different studies for calculating cost of illness and their relevance to the setting and perspective. We also compared annual costs to the current health expenditure per capita and to the GDP per capita to show the magnitude of the burden.

The aim of this work is to investigate the costs of childhood disability in developed and developing countries through a literature review. The objectives are:

  • To identify costs of childhood disability from selected references and categorize them according to setting, type of disability, perspective, and time horizon.
  • To quantify the burden of disability on the health system and society by comparing the cost to current health expenditure (CHE) per capita and gross domestic product (GDP) per capita.

To provide critical qualitative comparison between developed and developing countries.

2. Materials and Methods

A literature review was conducted largely following Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines [ 25 , 26 ]. Only one researcher performed the initial search, selection of articles, and critical appraisal (AS). All previous steps were then revised, corrected, and approved by the second researcher (GG). However, the two researchers did not perform the evaluation independently hence it is considered a literature review not a systematic review.

Literature was searched for the key terms of cost, child, and disability. Alternative search terms were also used for each key word. Selecting the search terms for disability was challenging as there is a wide range of medical conditions which may cause disability. In this review, we used keywords general to the concept of disability. In addition, we searched for three of the most common medical conditions causing childhood disability; cerebral palsy (CP), autism spectrum disorders (ASD), and Down syndrome (DS). These medical conditions were selected because they almost always occur/manifest in childhood, cause considerable disability, and have long survival so the costs can be followed for a longer time.

Inclusion criteria were: peer reviewed journal articles, from 1980 onwards, in the English language only, estimating any type of economic costs of children (up to the age of 18), with any type of disability.

Countries were categorised as developed or developing. All high-income countries were considered “developed”, all low-and-middle-income countries (LMIC) were considered “developing”. Ranking of countries’ income levels was taken from the latest World Bank country and lending group ranking [ 27 ].

2.1. Searching Strategy and Databases

The databases Medline, Embase, EconLit, and Global Health were searched. Alternative search strategies were also used through snowball sampling [ 28 ] where the search strategy evolves based on the relevant literature identified through the initial electronic search. This included searching reference lists, hand searching relevant journals and author searching. Details of the search strategies on the four databases is available in Appendix A , Appendix B , Appendix C , Appendix D .

2.2. Identifying Relevant Literature

The searching and sifting process was performed largely following PRISMA guidelines [ 26 ]. The results of electronic database searches were uploaded and managed using Mendeley reference management software and duplicates were removed. Titles were screened against inclusion criteria. After exclusion of irrelevant titles, abstracts of the remaining references were screened again. The full text of the remaining references was retrieved, and critical appraisal of their quality was performed. At this stage, more full text articles were included through snowball sampling while some studies were excluded because full text could not be found.

2.3. Data Extraction

A data extraction form was designed using google-docs. The form had two sections, one for data extraction and another for the critical appraisal questions. Data were then exported into an excel file for analysis. The form can be viewed at https://forms.gle/ntoEivcgT5xN7Agd9 (accessed on 13 July 2019).

2.4. Categorizing Costs

Types of costs were categorised into the following:

  • Direct-medical: costs for diagnosis, treatment, managing complications of the condition causing the disability.
  • Direct non-medical: includes special education, rehabilitation, and transportation costs.
  • Indirect non-medical: productivity loss and time lost by parents due to caring for the disabled child.
  • Future related: medical costs related to the condition causing disability that happen in the future years.
  • Future unrelated: includes future productivity loss by the disabled children and their caregivers.

2.5. Critical Appraisal

A modification of the 10-point checklist by Drummond et al. [ 29 ] was used to evaluate the quality of the articles. The checklist was originally designed to critically appraise economic evaluation studies, hence rephrasing and excluding some questions was necessary. The modified checklist contained 20 yes/no questions. All questions were given equal weight. Studies scoring yes in more than 75% of the applicable questions were considered to have a low risk of bias, whereas, those scoring (50–75%) a moderate risk of bias, and studies scoring less than 50% a high risk of bias.

When an item is partially met it was considered (yes). However, all items were reviewed again by the second researcher (GG) and discussed to reach a final decision on assigning the question a yes/no answer. The critical appraisal tool is available in Appendix E .

2.6. Synthesis of Evidence

Qualitative comparison was made between studies by categorising and analysing them according to the following items:

  • ○ Country (name, developed/developing)
  • ○ Perspective (household, health system, or societal perspective)
  • ○ Methods of costing
  • ○ Disability category (types of disability/medical condition)
  • ○ Time horizon

The data extraction table is available in Appendix F .

For quantitative comparison, annual costs reported in the studies were compared to the CHE per capita of the country obtained from the latest estimates published by the WHO in 2016 [ 30 ] and then the figures were inflated to 2019 US$. Comparison was also made with GDP per capita for the country obtained from the International Monetary Fund (IMF) projections for GDP published in the World Economic Outlook Database in April 2019 [ 31 ]. Lifetime costs were transformed to annual costs by dividing the lifetime costs by the number of years reported in the study model. The ratios of the annual costs to CHE and GDP were displayed as percentages in the results table. The ratios were displayed in a scatterplot after they were transformed to natural logs to minimize the scale and make it easier for display. This means that the midline (zero) corresponds to 100%, i.e., the estimated cost is equal to the CHE/GDP per capita. All the data point to the right of the midline (positive) are multiples of the CHE/GDP per capita i.e., the costs are more than CHE/GDP per capita. Any data points to the left of the midline (negative) are fractions of the CHE/GDP per capita i.e., the costs are less than the CHE/GDP per capita. The studies were arranged chronologically from oldest (bottom) to newest (top) to show if there was a trend over time. A different colour was given to data points for each of the three perspectives (the household, the health system, and the societal). A different shape was given to data points to differentiate annual costs reported in the original studies from annual costs that we estimated from the lifetime costs. As some studies estimated separate costs for more than one type of disability, each data point on the scatter plot represents a cost estimate rather than a study.

2.7. Summarizing Results and Currency Conversion

For comparability, all results were displayed in 2019 US dollars (US$). Costs from the original studies were first inflated to 2019 local currency values using local currency inflation rate from consumer price index of the international monetary fund [ 32 ]. Costs in currencies other than US$ were then converted to 2019 US$ using the exchange rate of the base year (July 2019 conversion rate).

Costs were reported as average (mean) cost whenever possible. If both mean and median are reported; the mean was chosen. Because the 95% confidence interval was not available in all studies, it was not reported in our results. Costs were rounded and presented as approximate figures (≈) to emphasize the idea that these costs need to be compared categorically rather than statistically. However, the actual (non-rounded) estimates are presented in the results table.

3.1. Finding Relevant Studies

The initial literature search identified 2468 references. After removal of 517 duplicates, the titles of the remaining 1951 references were screened. Of these, 251 were retained for abstract review applying the inclusion and exclusion criteria. After revising the abstracts, 53 references were selected for full text review and a further three were found through snowball sampling. The critical appraisal tool was applied to 34 studies, 17 were found to have low risk of bias and were, therefore, included in this review. Only two studies from this group were from a developing country. Fourteen studies had moderate risk of bias and were, therefore, excluded. We exceptionally included three studies from the moderate risk of bias group as they were from developing countries, so they were needed for the sake of comparison. All studies with high risk of bias were excluded ( n = 3). This resulted in 20 studies that were included in the final analysis. Details of the sifting process are shown in Figure 1 .

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Literature selection process.

3.2. Summary of the Results

The annual costs of childhood disability reported in the studies ranged ≈$450–69,500. In developing countries, the costs ranged ≈$500–7500 while in developed countries it ranged ≈$450–69,500.

The lifetime costs ranged ≈$41,000–4,300,00 worldwide. In developing countries, costs ranged ≈$41,000–91,000 while in developed countries the range was ≈$32,000–4,300,000.

The 20 studies were spread across 12 countries in five continents. The majority (n = 15) were set in developed countries. Figure 2 shows the distribution of the reviewed studies over the world map.

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Geographical distribution of the review studies This is a royalty free image, ©Copyright J. Bruce Jones 2019 www.mapsfordesign (accessed on 26 August 2019).

Regarding type of disability; six studies estimated the costs of disability in general or reported the costs of more than one category of disability. Six studies focused on the costs of autism spectrum disorders (ASD), four on cerebral palsy (CP), and three on Down syndrome (DS). Only one study estimated the costs of disability as a sequel of meningitis.

Regarding study perspective; the societal perspective was considered in 10 studies, the household perspective in six, while four studies were from the health system perspective.

Regarding time horizon; more than half of the studies ( n = 12) reported the annual costs, whereas six estimated the lifetime costs. The study by Solmi et al. [ 33 ] was the only one to report weekly extra costs. Barrett et al. [ 34 ] reported costs over a six-month period. Kageleiry et al. [ 35 ] presented the aggregate costs for the whole childhood period (0–18 years) which was difficult to break down into annual costs but could, nevertheless, be compared to lifetime costs regarding the methodology.

A summary of the findings from the 21 studies is presented in Table 1 .

Results of the literature review on costs of childhood disability.

* % = (annual costs/current health expenditure (CHE) per capita). ** % = (annual costs/gross domestic product (GDP) per capita). Studies are arranged by strength of evidence according to our critical appraisal tool, the highest quality at the top. ASD = Autism Spectrum Disorders, CP = Cerebral Palsy, DS = Down Syndrome, IDD = Intellectual Developmental Disorder, PDD = Pervasive Developmental Disorder. Care must be taken not to simply compare the costs from different studies as there are considerable methodological differences between them, this table is just a way of summarizing these differences. † The study by Knapp et al estimated both annual costs (survey based) and modelled lifetime costs (model based). Unlike the rest of lifetime studies in this review, what we are presenting for this study as annual cost is the number reported by Knapp not our calculation from dividing lifetime costs by number of years in the model.

General Methodological Findings

The definition of disability varied between the reviewed studies. The majority of the studies ( n = 14) identified disabled children based on a confirmed diagnosis of a medical condition, whereas only three studies used a definition that follows the bio-psycho-social model. Three studies were not clear on the method of defining disability.

The perspective of the analysis was determinant in the choice of study methods and the types of cost included. The societal perspective was more commonly used in developed countries. Nine out of 15 of the studies from developed countries focused on the societal perspective, five were from the health system perspective and only one was from the household perspective. In fact, seven out of eight studies from European Union (EU) countries were from a societal perspective. In developing countries, four out of five studies were from the household perspective, only one from the societal perspective and none from the health system perspective.

The most frequently measured costs were direct medical and direct non-medical costs which were estimated in 17 and 16 studies, respectively. Indirect non-medical costs were estimated in 11 studies, future-related (medical) costs in six, and future unrelated costs in only five studies.

Whenever the method of estimating indirect non-medical costs is explicitly mentioned it was the human capital approach. The only exception in developed countries was the novel use of compensating variation method by Solmi et al. [ 33 ] The friction cost method was not used in any of the reviewed studies and was not found in any of the 34 studies included in the critical appraisal. Two studies from developing countries estimated productivity loss by directly asking parents on their estimation of income forgone rather than the standard estimation through the human capital approach method [ 36 , 37 ].

3.3. Lifetime Cost Studies

The lifetime costs ranged ≈$41,000–4,300,00 this corresponds to annual costs of ≈$450–69,500. Six studies estimated lifetime costs of disability. These studies were included even though cost estimation continued into adulthood because it is a long-term consequence of disability acquired at birth or during childhood. Four of the studies were from the societal perspective, one from the health system perspective, and one from the household perspective.

The method of estimation of lifetime costs was similar in the six studies; the incidence/prevalence of the condition is estimated, then average costs at each age band till the end of life expectancy is estimated. This estimate is then used to model the lifetime costs for a hypothetical person (or cohort) who acquires the condition at the base year and dies at the end of life expectancy. Therefore, we considered lifetime costs studies to be model-based studies to differentiate them from other studies which estimate annual costs in real-time in the current year(s) i.e., survey-based.

Discounting was used for future costs (ranging 3–5%) in all the lifetime studies. Sensitivity analysis to account for uncertainty around the measures estimated in the study was used in five of the six studies.

The study by Griffiths et al. [ 36 ] on lifetime costs of meningitis sequelae in children in Senegal was the only one from a developing country and was the only study to be truncated at the age of 30 years, while the remaining five studies were from developed countries and truncated at an age not far from the average life expectancy of the population.

The six studies focused on a single disease or a group of very similar disorders; three on CP, two on ASD, and one on meningitis sequelae. Regarding data sources, two studies pooled data from different studies to estimate the average costs, [ 38 , 39 ] two used national register data, [ 40 , 41 ] and two estimated costs based on parents’ reported expenditures and healthcare utilization [ 36 , 42 ].

3.4. Magnitude of the Burden

It was not possible to compare the studies quantitatively because of methodological differences. However, we attempted to estimate the ratios of annual costs to their country’s own per capita CHE and GPD and display it graphically in a scatter plot. This plot would allow the reader to visualise results in a comparable way and show the general differences between countries and between perspectives. On the scatterplot, annual costs estimated through survey-based methods were given a different shape (triangle) to differentiate them from annual costs that we estimated from the reported lifetime costs studies model-based method (circle).

Figure 3 is a scatterplot that shows the ratio of each estimated cost to the country’s CHE per capita. All the costs estimated from the societal perspective (yellow) were to the right of the midline, i.e., higher than CHE per capita. From the household perspective (red), costs estimated in China and Senegal were higher than CHE per capita, costs from Mexico were equal to CHE per capita, and costs from the UK were equal or less than CHE per capita. From the health system perspective (green), costs were generally lower compared to the other perspectives. Costs estimated in Korea and Australia were lower than CHE per capita. Three cost estimates from the USA in the years 2004, 2011, and 2016 were lower than, equal, and higher than the CHE per capita respectively. This may indicate a trend of rising healthcare costs in the USA; however, type of disability and methods could be major confounding factors.

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Annual childhood disability costs compared with CHE per capita. Care must be taken not to simply compare the costs from different studies as there are considerable methodological differences between them, this graph is just a way of summarizing these differences.

Figure 4 is a scatterplot that shows the ratio of each estimated cost to the country’s GDP per capita. All costs estimated from the health system (green) and the household perspective (red) were lower than their country’s GDP per capita. From the societal perspective (yellow), costs estimated in the UK, the Netherlands, Canada, Sweden, and one USA study were equal or more than GDP per capita, while the other costs estimated from the societal perspective in Ireland, USA, China, Denmark, and some UK studies were lower than one GDP per capita.

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Annual childhood disability costs compared with GDP per capita. Care must be taken not to simply compare the costs from different studies as there are considerable methodological differences between them, this graph is just a way of summarizing these differences.

4. Discussion

All reviewed studies concluded that there is a substantial economic burden attributed to childhood disability regardless of the study perspective or setting. The household of the disabled child bears a heavy economic burden. This is either in the form of out-of-pocket (OOP) expenditures, or opportunity costs due to productivity time lost caring for the disabled child. This is true even in countries with public coverage of health, education, and social services. This economic burden is shared by the family of the disabled child, public health services, and the society. The share of each party is variable depending on the health and welfare system in the study setting. In developing countries, much of the burden is on the household in the form of OOP expenditures and lost productivity. In Mexico, Martınez-Valverde et al. found that 33% of families with DS children had catastrophic expenses and 46% of the families had to borrow money to pay for medical expenses [ 48 ].

In developed countries, part of the burden is shifted to the public services (e.g., health, special education, and disability benefits) but there is still a substantial burden on the families. In the UK, an additional annual amount of ≈$4200 is needed for the families of a severely disabled child to have the same living standard of their matched families without a disabled child [ 33 , 53 ].

4.1. Definition of Disability

The WHO report on disability recommended the bio-psycho-social model for defining disability as an interaction between the physical condition and the environment [ 1 ]. This was only used in three of the 20 reviewed studies while the majority used confirmed clinical diagnosis of a certain disease as the indication of disability. However, this may be biased because the literature search was done in databases which focus primarily on medical rather than social research.

The definition of disability varies globally, even within some countries there is no consensus on the national definition which explains why different studies produce different prevalence rates for the same population. In the USA, Newacheck et al. demonstrated that the prevalence of childhood disability may range from 7.3% to 30% depending on the definition of disability used [ 49 ]. Thus, it is important for researchers to use uniform definitions for disability to allow results to be comparable and be more relevant and informative for planning and budgeting of services.

4.2. Human Capital vs. Friction Cost

Valuing indirect costs, especially childcare time and lost productivity, has been an issue of much debate. As they are less straightforward to measure and more complicated to explain for decision makers, researchers have used different methods to estimate these costs. Among 11 studies that considered indirect non-medical costs, the human capital approach was the most common method. Although theoretically it may be superior to the human capital approach, the friction cost method was never used in any of the reviewed studies. This may be due to the limited use of the friction cost method in healthcare literature and that its costs are not readily available [ 20 ]. We suggest also that the human capital approach could be easier to present and explain to decision makers and the public.

Three studies used alternative methods. A British study used propensity score matching and compensating variation method which calculates ” the amount of additional income a family with a disabled child would require to achieve the same living standards as a similar family without a disabled child ” [ 53 ]. In a Senegalese study on effects of meningococcal meningitis, the opportunity cost of time lost by parents’ due to their child’s illness was reported and valued by the parents [ 36 ]. This approach was suggested by the researchers to be more suitable to LMIC settings. A similar approach was used in China, where parents replied to open questions such as “ How much total income do you expect that all family members would have earned in the past year if your child did not have the disease? ” [ 37 ].

The use of compensating variation is promising and could provide good evidence for evaluating the effectiveness of disability benefits in the country as it estimates the amount needed to fill the gap in standard of living between families with/without a disabled child. However, it can not be used to estimate societal cost as the focus here is the household.

We would still recommend the use of human capital approach as it is the most commonly used method and would make results comparable to other studies.

4.3. Societal vs. Household vs. Health System Perspective

The perspective may be the most determinant factor in a costing study as it would dictate what costs to include/exclude, where to collect the data from, and who is the audience of the study. No perspective can be claimed to be superior to others, it depends on the context. Careful analysis of the health system of the country of the study and the target audience should lead to the selection of the most suitable perspective.

In EU countries, disabled children can receive good quality of public healthcare, special education, and social services at no or very minimal costs. This explains why most studies in EU countries focus on the social perspective as most of the disability burden falls on public services. In this context, the household perspective would underestimate the negative effects of disability because a considerable part of the burden is shifted from the family to the social welfare network.

The healthcare system in the USA differs from that in Europe as there is no single national or social health insurance in the USA. Disabled children can receive healthcare through Medicaid, private insurance, or could even have no healthcare coverage at all. Because of the variable and more complex health system in the USA, different studies adopt different perspectives to cover all viewpoints. Three out of five American studies focused on the health system perspective. This reflects the growing concern by the healthcare payers (public or private) about the rising healthcare costs in the USA.

In developing countries, public services are of lower quality and limited coverage leading to higher reliance on private providers. This leads to significant OOP costs for the families. This explains why four out of five studies from developing countries focused on the household perspective while it was used in only one out of 15 studies in developed countries. Limited expertise in costing in developing countries, poor documentation, and unavailability of sources of cost data may also be factors deterring researchers in those countries from taking a wider perspective.

It was very difficult to aggregate the methods used into meaningful categories for several reasons. The methods used to calculate each cost category were variable, but what made it even more challenging is that many studies lacked the level of detail needed for such analysis. We have included in Appendix F some more details from the studies on their methods.

4.4. Developed vs. Developing

Studies originating from developing countries were fewer in number and were generally of lower quality compared to studies from developed countries. Out of 34 studies included in full-text critical appraisal, eight were from developing countries, and only two had low risk of bias. Studies from developing countries focused more on the household and OOP expenses. The health system perspective was never used in studies from developing countries. This may indicate lack of interest from decision makers in this kind of studies and may also indicate the difficulty in collection of health system costs in these sittings.

Methods in studies from developing countries were less explicit especially in describing sources of each cost component and how it was calculated. Costs were generally lower in developing countries, annual costs ranged ≈$500–7500 while in developed countries they were ≈$2600–69,000. This may be partly because the cost of healthcare is lower in these countries and partly due to methodological differences (e.g., fewer costs included).

The estimation of lifetime societal costs of CP in two studies, one in China (≈$91,000) [ 42 ] and another in Denmark (≈$1.2–1.3 million) [ 40 ], shows a huge difference. Although both studies used the same perspective, the Danish study relied on national register data (including all patients registered since the 1960s) and was very explicit on details of costs included, sources of costs, and how they were calculated. The Chinese study was based on interviews with 319 parents of CP children to ask about utilization and expenditure related to their child disability as well as productivity loss. Less details were offered in the Chinese study on how each cost component was calculated. This may partly explain why both studies came to very different numbers that cannot simply be attributed to differences in healthcare costs or wage rates.

This shows that the choice of the most suitable method may vary between countries as it should account for differences in health systems (what services are covered by insurance or public services and what services are paid by the families), and should also account for the availability of data and their quality. The lack of availability of reliable population-level cost data in developing countries makes the results of the studies less accurate and less generalizable. This highlights the need for guidelines that set standards for conducting and reporting cost studies which allows them to be compared across time and countries. The guideline should be comprehensive yet flexible to be adapted to context and setting. A notable effort in this field was undertaken by the Global Health Cost Consortium (GHCC) in the Reference Case for Estimating the Costs of Global Health Services and Interventions that “adopts a “comply or justify” approach, which allows the analyst to adapt to the specific requirements of the costing exercise, but introduces the condition that judgments about methods choices are made explicitly and transparently” [ 21 ].

4.5. Mean vs. Median

Cost data in healthcare are typically positively skewed (right tailed). This is because a few patients (very severe or complicated cases) use significantly more resources than the rest which increases the mean cost. Therefore, the median is statistically more appropriate to describe cost data and non-parametric techniques are more appropriate for analysis. Nevertheless, decision makers are interested in average (mean) cost not the median [ 29 ] because average cost is what they would use in budgeting. Different statistical techniques have been used for presenting the cost results in mean costs including bootstrapping and using the gamma distribution [ 29 , 54 ].

Most reviewed studies reported the mean cost. One study reported both mean and median cost, [ 45 ] allowing readers interested in the expected cost for an individual patient to know the median while presenting the mean for decision makers who are more interested in average cost for the population. In this review, we assumed that mean costs are more relevant in describing the burden on the health system and society. Thus, the mean costs were reported in this review whenever available.

We recommend that the ideal practice would be reporting both mean and median costs. If the mean is used, care should be taken to use the appropriate statistical techniques to allow performing parametric analysis on cost data.

4.6. How Significant Is the Burden?

Comparing costs to CHE and GDP was used to show the extent of the burden. Taking the UK as an example; the amount of extra costs that a family of a disabled child bear annually (≈$2600–4200) [ 33 ] is comparable to the CHE per capita (61–98%). From the societal perspective, the annual costs of one disability case (ASD) [ 38 ] is equal to the country’s GDP per capita. In other words, the society loses one GDP per capita annually for each disabled child. A similar conclusion can be reached if we compare the annual societal costs to the GDP per capita in the Netherlands [ 50 ] (108%), Canada [ 47 ] (129%), and Sweden [ 44 ] (130%). In the Netherlands , Hoving et al. estimated that the annual societal costs of one CP child is 11 times CHE per capita [ 50 ].

A significant proportion of this burden falls on the families, even in countries with very good public services. In Canada, Genereaux et al. estimated that even with widely available public healthcare and social services, the governmental benefits compensated for less than 6% of OOP expenses that the family of a disabled child face [ 47 ].

In developing countries, the burden is even heavier and a significant proportion of it falls on the families. In Mexico, the OOP expenditures incurred by the disabled (DS) child’s family is equal to the county’s CHE per capita [ 48 ]. In China, the household expenses were found to be two to eight times the CHE per capita (for mental disability and autism respectively) [ 52 ], while according to another study, ASD costs could be up to 17 times CHE per capita (75% of the GDP per capita) [ 37 ]. This considerable burden on the households explains why many families fall into poverty and incur catastrophic health expenditures as a result of having a disabled child. This shows how significant the burden of childhood disability but also hints at the potential savings from prevention programs.

4.7. Strengths and Limitations

This study is the first to analyse in detail the methods of estimating childhood disability costs differentiating between methods according to perspective, time horizon, type of disability, and country income level.

This review however had some limitations. The heterogeneity of methods did not allow costs to be summarized and compared statistically in a meta-analysis. Time constrains lead to limiting database searches to only four databases. As only one researcher was performing the review, it was not possible to have two independent researchers to select studies according to inclusion criteria.

Search terms used to search the term “disability” included some general synonyms of the term “disability” and terms for some specific medical conditions. However, the terms used for specific medical condition was not a comprehensive list. It only included some of the most common childhood conditions causing disability, while some other conditions (e.g., hearing-impairment and visual-impairment) were not included.

Only five studies from developing countries were included in this review. This was due to the limited number of available studies and their lower quality. Only two studies from developing countries had a low risk of bias according to our critical appraisal. However, a further three studies, who had moderate risk of bias, were included in our review to allow comparison between developed and developing countries.

4.8. Recommendations for Policy Makers

Policy makers should look at childhood disability from a wider perspective and consider the effects beyond the health system to appreciate the full picture and avoid underestimation of the economic burden. This is important when making investment decisions and weighing costs and benefits.

Governments should be encouraged to finance programs that are proven effective in preventing avoidable disabilities. Providing facilities and personnel to ensure safer deliveries, especially in rural areas, can significantly decrease the number of CP cases caused by antenatal complications. A facility/program for safe delivery in a developing country can prevent hundreds of traumatic CP cases and save considerable potential lifelong costs of their disability. Some medications to prevent premature delivery are also promising in reducing CP because of prematurity. Amniocentesis for detection of DS and counselling for positive mothers should be provided by public facilities. Early diagnosis, rehabilitation, special education programs, and inclusion in the labor market are effective in improving the outcome of ASD cases. Investing in these interventions with the target of making autistic children more independent and to qualify them to enter the labor market will significantly reduce the lifetime costs of their disability. The same can be concluded for interventions, equipment, and programs to help children with hearing, visual, or physical impairment to overcome their disability and reduce the burden on their family and society. The cost of providing cochlear implants for hearing-impaired children at a young age to make them pursue almost normal academic achievement cannot be compared to the cost of living with lifelong permanent hearing impairment if the operation is delayed. Cochlear implantation is a relatively expensive operation, but the annual loss of one GDP per capita is much more costly to society. This is the argument that should be presented to policy makers to persuade them to take a more societal and long-term viewpoint when making a decision to pay for an immunization program, rehabilitation facility, safe labor initiative or subsidising prosthetics.

Policies in developing countries should aim—beside prevention programs—to reduce the economic burden on the families by providing/subsidising services that the families must pay OOP. Special subsidised insurance schemes and arrangements can be made to allow the children to receive services from private providers if they are not available in public facilities.

Donor organizations should be aware of the magnitude of the economic burden and the potential for preventing it. They should be encouraged to fund programs and services that reduce the OOP expenses by the households to prevent catastrophic expenditure.

Legislation should be passed to encourage employers to allow more disabled persons to enter the labor market.

4.9. Need for Further Research

More research is needed on the cost-effectiveness of interventions and prevention programs for childhood disabilities especially in developing countries. The cost of illness studies like those included in this review can be used as inputs in such cost-effectiveness studies.

More cost of disability studies in developing countries are needed. These studies need to include more details on how costs are calculated and become more explicit in their methodology. A societal perspective should be adopted to show the extent of the burden beyond the family and the health system.

Studies to establish the relation between poverty and disability in developing countries are also needed.

5. Conclusions

All reviewed studies on the cost of childhood disability—despite their methodological heterogeneity—have reached the conclusion that childhood disability causes a considerable burden on family, health system, and society. Childhood disability could be costing societies up to one GDP per capita annually for each disabled child.

This study could not combine the estimated costs into one measure because the studies were not uniform in the costs they included, sources of costs, and methods of calculation. In addition, perspective, study setting, time horizon, and type of disability are all variables that affect which costs are included and how they are calculated. However, standardizing the way we evaluated these costs in relation to the country’s CHE and GDP allowed us to display the results in a graphical way to allow better understanding of the global picture of the burden of childhood disability. Societies in developed countries pay high costs because of childhood disabilities, and families in developing countries are forced below the poverty line by spending most of their income on their disabled child.

Policy makers should be made aware of the heavy consequences of childhood disability, and search for efficient ways to mitigate these effects. Interventions that have already proven effective in preventing disability should be adopted to prevent the occurrence of disability altogether. For non-preventable disabilities; policy makers must ensure the provision of healthcare, special education, and social services for disabled children and their families to alleviate some of the burden on them and allow them to enter the workforce and be more productive. Providing these services, besides being a moral and ethical obligation on more-abled members of society, is reflected positively in the economy by decreasing the societal costs of disabled children and increasing their household productivity.

Research from developing countries is low in quantity and quality. Researchers in developing countries are required to produce more evidence and be clear on details of methods used and how costs were calculated. Careful analysis of the context and the health system of the study setting is essential to reach the correct decisions regarding the perspective of the study and what costs to include. Economic evaluation of prevention programs and therapeutic interventions is needed to highlight potential savings by preventing childhood disabilities or modifying their effect.

Appendix A. Search Strategy for OVID Medline Database

Ovid MEDLINE(R) and Epub Ahead of Print, In-Process and Other Non-Indexed Citations, Daily and Versions(R) <1946 to 03 July 2019>

  • (cost* adj5 (economic or illness or sickness or disease* or care or direct or indirect)).mp. [mp=title, abstract, original title, name of substance word, subject heading word, floating sub-heading word, keyword heading word, organism supplementary concept word, protocol supplementary concept word, rare disease supplementary concept word, unique identifier, synonyms] (127447)
  • exp “cost of illness”/ or exp healthcare costs/ (82347)
  • 1 or 2 (146362)
  • (disable* or disabilit* handicap* or impairment* paralys* paralyz*).mp. [mp=title, abstract, original title, nameof substance word, subject heading word, floating sub-heading word, keyword heading word, organism supplementary concept word, protocol supplementary concept word, rare disease supplementary concept word, unique identifier, synonyms] (77792)
  • exp Disabled Persons/ (62208)
  • cerebral palsy.mp. [mp=title, abstract, original title, name of substance word, subject heading word, floating sub-heading word, keyword heading word, organism supplementary concept word, protocol supplementary concept word, rare disease supplementary concept word, unique identifier, synonyms] (26008)
  • exp cerebral palsy/ (19602)
  • (down* syndrome or mongolism or trisomy?21).mp. [mp=title, abstract, original title, name of substance word, subject heading word, floating sub-heading word, keyword heading word, organism supplementary concept word, protocol supplementary concept word, rare disease supplementary concept word, unique identifier, synonyms] (29343)
  • exp down syndrome/ (23636)
  • autis*.mp. [mp=title, abstract, original title, name of substance word, subject heading word, floating sub-heading word, keyword heading word, organism supplementary concept word, protocol supplementary concept word, rare disease supplementary concept word, unique identifier, synonyms] (46566)
  • exp Autistic Disorder/ or exp Autism Spectrum Disorder/ (26617)
  • 4 or 5 or 6 or 7 or 8 or 9 or 10 or 11 (187674)
  • (child* or boy* or girl* or adolescent* or infant* or pediatric* or paediatric or (schoolage* or (school adj1 age*)) or (preschool* or (pre adj1 school*))).mp. [mp=title, abstract, original title, name of substance word, subject heading word, floating sub-heading word, keyword heading word, organism supplementary concept word, protocol supplementary concept word, rare disease supplementary concept word, unique identifier, synonyms] (3934927)
  • exp child/ or exp Disabled Children/ or exp Child Health Services/ (1841396)
  • 13 or 14 (3935165)
  • 3 and 12 and 15 (1121)
  • limit 16 to (english language and yr=“1980 -Current”) (1046)

Appendix B. Search Strategy for OVID Embase Database

Embase Classic+Embase <1947 to 2019 July 03>

  • (cost* adj5 (economic or illness or sickness or disease* or care or direct or indirect)).mp. [mp=title, abstract, heading word, drug trade name, original title, device manufacturer, drug manufacturer, device trade name, keyword, floating subheading word, candidate term word] (284046)
  • exp “cost of illness”/ or exp health care costs/ (291451)
  • 1 or 2 (370332)
  • (disable* or disabilit* handicap* or impairment* paralys* paralyz*).mp. [mp=title, abstract, heading word, drug trade name, original title, device manufacturer, drug manufacturer, device trade name, keyword, floating subheading word, candidate term word] (63633)
  • exp Disabled Persons/ (57465)
  • cerebral palsy.mp. [mp=title, abstract, heading word, drug trade name, original title, device manufacturer, drug manufacturer, device trade name, keyword, floating subheading word, candidate term word] (41772)
  • exp cerebral palsy/ (38329)
  • (down* syndrome or mongolism or trisomy?21).mp. [mp=title, abstract, heading word, drug trade name, original title, device manufacturer, drug manufacturer, device trade name, keyword, floating subheading word, candidate term word] (40125)
  • exp down syndrome/ (36240)
  • autis*.mp. [mp=title, abstract, heading word, drug trade name, original title, device manufacturer, drug manufacturer, device trade name, keyword, floating subheading word, candidate term word] (69358)
  • exp Autistic Disorder/ or exp Autism Spectrum Disorder/ (63878)
  • 4 or 5 or 6 or 7 or 8 or 9 or 10 or 11 (230190)
  • (child* or boy* or girl* or adolescent* or infant* or pediatric* or paediatric or (schoolage* or (school adj1 age*)) or (preschool* or (pre adj1 school*))).mp. [mp=title, abstract, heading word, drug trade name, original title, device manufacturer, drug manufacturer, device trade name, keyword, floating subheading word, candidate term word] (4146231)
  • exp child/ or exp Disabled Children/ or exp Child Health Services/ (2909761)
  • 13 or 14 (4427076)
  • 3 and 12 and 15 (1415)
  • limit 16 to (english language and yr=“1980-Current”) (1326)

Appendix C. Search Strategy for OVID Econlit Database

Econlit <1886 to June 27, 2019>

  • (disable* or disabilit* handicap* or impairment* paralys* paralyz*).mp. [mp=heading words, abstract, title, country as subject] (1187)
  • cerebral palsy.mp. [mp=heading words, abstract, title, country as subject] (9)
  • (down* syndrome or mongolism or trisomy?21).mp. [mp=heading words, abstract, title, country as subject] (10)
  • autis*.mp. [mp=heading words, abstract, title, country as subject] (70)
  • (child* or boy* or girl* or adolescent* or infant* or pediatric* or paediatric or (schoolage* or (school adj1 age*)) or (preschool* or (pre adj1 school*))).mp. [mp=heading words, abstract, title, country as subject] (39334)
  • (cost* or burden*).mp. [mp=heading words, abstract, title, country as subject] (191228)
  • 1 or 2 or 3 or 4 (1268)
  • 5 and 6 and 7 (44)
  • limit 8 to (yr=“1980-Current” and english) (42)

Appendix D. Search Strategy for OVID Global Health Database

Global Health <1910 to 2019 Week 26>

  • (cost* adj5 (economic or illness or sickness or disease* or care or direct or indirect)).mp. [mp=abstract, title, original title, broad terms, heading words, identifiers, cabicodes] (24319)
  • exp “cost of illness”/ or exp health care costs/ (11630)
  • estimated costs/ or health care costs/ or costs/ or social costs/ or unit costs/ or specific costs/ or total costs/ (26116)
  • exp “cost analysis”/ or exp costs/ or exp “cost effectiveness analysis”/ (30831)
  • 1 or 2 or 3 or 4 (38096)
  • (disable* or disabilit* handicap* or impairment* paralys* paralyz*).mp. [mp=abstract, title, original title, broad terms, heading words, identifiers, cabicodes] (6019)
  • exp Disabled Persons/ (4887)
  • cerebral palsy.mp. [mp=abstract, title, original title, broad terms, heading words, identifiers, cabicodes] (1407)
  • exp cerebral palsy/ (1061)
  • (down* syndrome or mongolism or trisomy?21).mp. [mp=abstract, title, original title, broad terms, heading words, identifiers, cabicodes] (1981)
  • autis*.mp. [mp=abstract, title, original title, broad terms, heading words, identifiers, cabicodes] (2467)
  • disabilities.sh. (7353)
  • exp disabilities/ or exp people with disabilities/ (11117)
  • cerebral palsy.sh. (1061)
  • exp autism/ (1831)
  • Down’s syndrome.sh. (1623)
  • 6 or 7 or 8 or 9 or 10 or 11 or 12 or 13 or 14 or 15 or 16 (18089)
  • (child* or boy* or girl* or adolescent* or infant* or pediatric* or paediatric or (schoolage* or (school adj1 age*)) or (preschool* or (pre adj1 school*))).mp. [mp=abstract, title, original title, broad terms, heading words, identifiers, cabicodes] (530913)
  • exp children/ (339666)
  • 18 or 19 (530913)
  • 5 and 17 and 20 (108)
  • limit 21 to (english language and yr=“1980-Current”) (89)

Checklist Used for Critical Appraisal.

Data Extraction.

Author Contributions

Conceptualization, A.R.S.S. and G.G.; methodology, A.R.S.S.; software, A.R.S.S.; validation, G.G.; formal analysis, A.R.S.S.; resources, A.R.S.S.; data curation, A.R.S.S.; writing—original draft preparation, A.R.S.S.; writing—review and editing, G.G.; visualization, A.R.S.S.; supervision, G.G.; project administration, A.R.S.S. All authors have read and agreed to the published version of the manuscript.

This research received no external funding.

Institutional Review Board Statement

Not applicable.

Informed Consent Statement

Data availability statement, conflicts of interest.

The authors declare no conflict of interest.

Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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LEARNING DISABILITY : A CASE STUDY

Profile image of Dr Yashpal D Netragaonkar

The present investigation was carried out on a girl name Harshita who has been identified with learning disability. She is presently studying at ‘Udaan’ a school for the special children in Shimla. The girl was brought to this special school from the normal school where she was studying earlier when the teachers and parents found it difficult to teach the child with other normal children. The learning disability the child faces is in executive functioning i.e. she forgets what she has memorized. When I met her I was taken away by her sweet and innocent ways. She is attentive and responsible but the only problem is that she forgets within minutes of having learnt something. Key words : learning disability, executive functioning, remedial teaching

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Almost a third of disabled children and teenagers face abuse, global study finds

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About one-third of young children and teenagers with disabilities faced emotional and physical abuse, while 20% experience neglect and one in 10 sexual violence, according to international research .

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Researchers from Leeds, Oxford, Beijing and Columbia universities examined data measuring violence against children with disabilities published in Chinese and English studies between 1990 and 2020. They included 75 studies from high-income countries and 23 studies from seven low-income and middle-income countries.

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“Our findings reveal unacceptable and alarming rates of violence against children with disabilities that cannot be ignored,” said Jane Barlow, professor of evidence based intervention and policy evaluation at the University of Oxford, who co-led the study.

Higher rates of violence occurred in low-income countries. Stigma, discrimination, lack of information about disability, and inadequate access to social support for carers were contributory factors, as well as poverty and social isolation, the authors conclude.

Zuyi Fang from Beijing Normal University in China and co-lead author, said: “It is clear that low-and middle-income countries, in particular, face additional challenges, fuelled by complex social and economic drivers, and must establish legal frameworks to prevent violence, alongside increasing the capacity of health and social service systems to address the complex needs of children with disabilities and their families.”

As the data largely predates the Covid-19 pandemic, the situation today is likely to be much worse, said Tania King, a senior research fellow at the University of Melbourne. Lockdowns and job losses have increased familial stress, while increasing the isolation and risks to vulnerable children, including those with disabilities. “Rates of violence against children with disabilities are likely to have increased during the pandemic,” she said.

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Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study

  • Yirou Wang 1   na1 ,
  • Yufei Xu 2   na1 ,
  • Yao Chen 1 ,
  • Yabin Hu 3 ,
  • Shijian Liu 3 , 4 ,
  • Jian Wang 2 &
  • Xiumin Wang 1 , 2  

BMC Pediatrics volume  24 , Article number:  133 ( 2024 ) Cite this article

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Metrics details

Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, ( KDM6A , MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%–8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype.

We summarized the phenotype and genotype of KS2 patients who were diagnosed in Shanghai Children’s Medical Center since July 2017 and conducted a 1:3 matched case–control study according to age and sex to investigate sex-specific differences between patients with and without KS2.

There were 12 KS2 cases in this study, and 8 of them matched with 24 controls. The intelligence quotient (IQ) score of the case group was significantly lower than that of the control group ( P  < 0.001). In addition, both the incidence of intellectual disability (ID) (IQ < 70) and moderate-to-severe ID (IQ < 55) were significantly higher in the case group than those in the control group. No sex-specific difference was found in the incidence of ID or moderate-to-severe ID between the female cases and female controls, whereas there was a significant difference between male cases and male controls. Furthermore, the rate of moderate-to-severe ID and congenital heart disease (CHD) was significantly higher in the male group than that in the female group.

Conclusions

Our results showed that a sex-specific difference was exhibited in the clinical phenotypes of KS2 patients. The incidence of CHD was higher in male patients, and mental retardation was significantly impaired. However, the female patients’ phenotype was mild.

Peer Review reports

Kabuki Syndrome (KS) is a rare genetic disease often caused by two pathogenic genes, KMT2D (MIM*602113) and KDM6A (MIM*300128), with coding for histone methylase and histone demethylase, respectively [ 1 , 2 ]. KMT2D causes KS type 1 (KS1, MIM# 147920), whereas KDM6A causes KS type 2 (KS2, MIM# 300867). KS2 only accounts for approximately 5%–8% of KS cases [ 3 , 4 , 5 ]. Most patients with KS are characterized by mental retardation, which manifests as infantile hypotonia in infancy, and mild-to-moderate intellectual disability (ID) in childhood. KDM6A is located at Xp11.3, and KS2 is X-linked dominant inheritance.

Previous studies have found that the phenotype of KS2 is different from that of KS1, for example, patients with KS1 type have a higher risk of typical facial features, short stature, and frequent infections compared to those with KS2 [ 6 , 7 ]. Many reports have found that the incidence of ID in KS1 is also higher than that in KS2, hence, researchers proposed that this phenomenon may be caused by sex-specific phenotypic differences in patients with KS2 since female patients with KS2 often show mild clinical manifestations [ 3 , 8 ]. However, there are few reports of KS2, and, as of April 2020, only 94 variants of KDM6A have been included in the Human Gene Mutation Database ( http://www.hgmd.cf.ac.uk/ac/index.php ). Therefore, the clinical manifestations of patients with KS2 need to be require further summarized and analyzed.

In the present study, we summarized and analyzed 12 KS2 patients with definite KDM6A pathogenic variants, including three pedigrees, wherein the pathogenic variant of the proband was inherited from the mother. Additionally, we used a matched case–control study design to evaluate the difference in the incidence of various clinical characteristics of KS2 between the sexes. We hypothesized that KS2 female patients might have a milder phenotype.

Materials and methods

Participants and sampling.

We enrolled KS patients diagnosed at SCMC between June 2017 and June 2021, and statistically analyzed their clinical phenotypes. To be eligible as a case, genetic testing indicating a KDM6A “Pathogenic” or “Likely Pathogenic” variant according to the ACMG guidelines was required [ 9 ]. To further explore the gender differences in intelligence levels among KS2 patients, we conducted a case–control study with the age- and gender-matched children as the control group. As for the controls, we selected 200 children who underwent a physical examination and an intelligence test at the Children’s Health Department of SCMC from April 2021 to June 2021. Children diagnosed with organic brain disease (e.g., traumatic brain injury, hydrocephalus, brain tumor, etc.), a history of brain surgery, inherited metabolic diseases (e.g., mitochondrial encephalomyopathy, phenylketonuria, Turner syndrome, and so on), hearing loss, and severe visual impairment that could cause mental retardation were excluded from the study. The KS2 cases and controls were matched at a 1:3 ratio by age and sex.

Evaluation and diagnosis

The phenotypic assessment of KS was performed by professional genetic clinicians, and evaluation of each patient was based on the clinical symptoms listed in the 2019 international consensus [ 7 ]. Molecular testing for KS was performed through whole-genome sequencing, and candidate variants were validated by Sanger sequencing using specific primers. The DNA of the patients’ parents was also isolated and subjected to Sanger sequencing to confirm the origin of the candidate variants. The variants were categorized according to the method recommended by the American College of Medical Genetics and Genomics [ 9 ]. Patients with characteristic clinical symptoms and a molecular diagnosis were finally diagnosed with KS2.

Data collection

Participants’ IQ scores were measured using the Wechsler Preschool and Primary Scale of Intelligence, Wechsler Intelligence Scale for Children–Fifth Edition, and Wechsler Adult Intelligence Scale–Fourth Edition. The severity of ID was categorized as mild (IQ score, 69–55), moderate (IQ score, 54–40), or severe (IQ score, < 40). The calculation of the standard deviation (SD) score for height refers to the growth chart standards for Chinese children and adolescents [ 10 ]. Other assessments included a blood cell analysis, routine evaluation of biochemical indicators, immune function analysis, and various imaging examinations (including cardiac ultrasonography, renal ultrasonography, electrocardiography, etc.).

Statistical analysis

The detection rates of ID, typical dysmorphic features, short stature, microcephaly, etc. were directly calculated, and Pearson’s chi-square test was used to compare rates between the case and control groups. Categorical variables were analyzed using Fisher’s exact test if the expected frequency was less than five. The rank sum test was used for two-group comparisons of age, height, SD scores, and IQ score data. All the raw data were analyzed using SPSS Statistical package version 21 (IBM Corp., Armonk, New York, USA), and a two-sided P -value < 0.05 was considered statistically significant.

Participants

Only nine patients with KS2 were diagnosed at Shanghai Children’s Medical Center (SCMC) and enrolled in the case group. Interestingly, when we verified the genotype of their parents, we discovered that the variants of three patients were inherited from their mothers. After further evaluation, we found that their mothers could also be diagnosed with KS2. In total, 12 patients formed the case group, five males and seven females; the median age of the males and females was 5.88 ± 4.36 years and 17.98 ± 13.62 years, respectively. There was no statistical difference in age distribution between the female and male patient in case group.

Phenotype and genotype

We summarized the phenotype of 12 patients with KS2 (Table  1 ). Most had dysmorphic features typical of KS (11/12, 91.6%), and the most frequent clinical features (frequency ≥ 50%) included feeding difficulties (77.8%), ID (58.3%), and congenital heart defect (CHD) (50.0%). However, when we compared the incidence of common clinical manifestations between the sexes, we found that the rates of moderate-to-severe ID and CHD were significantly higher in the male group than in the female group (both, P  < 0.05) (Table  2 ).

Regarding genotype, nine different variant sites were found in these 12 patients, among which Patients 10, Patient 11, and Patient 12 were the mothers of Patient 2, Patient 4, and Patient 5, respectively. Other patients were confirmed to be de novo. Among these variants, six were null variants (four truncating, one nonsense, and one splicing), and three were missense variants. The variant of Patient 5 and Patient 12 can only be evaluated as “Uncertain significance,” but they were included in this study because of their typical clinical manifestations. Other mutations can be classified as “Pathogenic” or “Likely Pathogenic” variants according to the American College of Medical Genetics and Genomics (ACMG) guideline (Table  3 ).

Relationship between ID and the sexes

For further analysis of this phenotype, we stratified the case and control groups by sex, and the results changed. In the case group, except for three adults, one patient who was younger than four years of age was not able to perform the intelligence test, so we finally matched eight patients in the case group with 24 children in the control group (Fig.  1 ). Although the IQ value of female patients was still lower than that of the controls, there was no significant difference in the incidences of ID or moderate-to-severe ID between the case and control groups ( P  > 0.05). The same comparison for male patients had the opposite result, that is, the IQ score of male patients was significantly lower than that of the controls ( P  < 0.001), and the incidences of various severities of ID were significantly higher in male patients than in the controls ( P  < 0.05) (Table  4 ). Likewise, the IQ values between the male patient group and female patient group were significantly different, as seen in Table  2 ( P  = 0.029).

figure 1

Flow chart of this matched case–control study

In our study, we definitively diagnosed 12 patients with KS2 based on clinical symptoms and genetic testing and compared the differences in the incidence of various phenotypes between male and female patients with KS2 using a matched case–control study design. A typical dysmorphic feature is an emblematic clinical manifestation of KS. In previous studies, we found that almost all Chinese KS patients demonstrated the characteristic facial features of KS [ 11 ]. Makrythanasis et al. established a score list in which half of the scores were derived from facial features. Their study indicated that the score of the KMT2D variant group was higher than that of the non-KMT2D group [ 6 ], which was confirmed in our previously reported cases (KS1 4.72 vs KS2 3.33) [ 11 ]. In this cohort, Patient 10 (mother of Patient 2) showed eyebrows with lateral sparseness but lacked the other facial features, suggesting that female patients with KS2 may have a lower score than those of the non-KMT2D group. Whether the scoring system mentioned above is applicable to female patients with the KDM6A variant needs further exploration. It may not be appropriate to evaluate female patients with KS2 and male patients with KS2 when exploring the phenotype of KS2. Furthermore, in our study, we diagnosed three adult patients with KS2 coincidentally during parental verification due to the birth of KS2 boys. Recent studies suggest that the diagnosis of KS in adulthood is challenging. Their facial deformities are less obvious in adult patient populations, and even the most typical lower eyelid ectropion may disappear [ 12 ]. This may explain the lack of Typical dysmorphic features in Patient 10. This suggests that facial scoring may not be applicable to adult KS patients either.

Our statistical findings showed significant differences in the IQ scores, incidence of ID, and CHD between female and male patients with KS2.For ID, there is currently no effective treatment, but this is one of the most confusing parts for families of patients with KS. Our study evaluated the IQ scores of patients with KS2 using the Wechsler Intelligence Test and obtained IQ scores of adult patients with KS2. Cristina et al. tested the IQ of KS1 patients and found an IQ score of 67 ± 24.9 ( n  = 6), suggesting that a small number of patients with KS have severe ID [ 13 ]. When analyzing patients with KS2, we found that the median IQ score of female patients in our case group reached 69 points, which was the highest score for mild ID, while male patients had an IQ score of only 41 points, almost reaching the diagnostic criteria for severe ID. In our study, there was a significant statistical difference in the incidence of moderate-to-severe ID (IQ < 55) between male and female patients. Additionally, two of the four male patients’ IQ scores were less than 40, and the rate of severe ID reached 50%. Although the ID score of KS described in the past indicates mostly mild-to-moderate ID [ 14 ], in our study, severe ID was a common finding in male patients with KS2. Previous studies have suggested a high frequency of psychiatric comorbidities, including anxiety and depression, in patients with KS, which requires further evaluation in our cohort in the future.

The incidence of CHD in patients with KS varied in previous reports from approximately 28% to 80% [ 15 , 16 , 17 ]. Maria et al. summarized the pattern of CHDs in 28 KS patients with KS (27 KS1, 1 KS2); 19 of them had CHD with coarctation of the aorta, aortic valve, atrial septal defect, and ventricular septal defect [ 15 ]. In our study, we completed echocardiography of 12 patients with KS2, five of whom had CHD. Patients 1, 2, 3, and 9 had an atrial septal defect (ASD), and Patient 4 had pulmonary stenosis. Previously published studies have suggested that ASD is the most common type of CHD in patients with variants of KDM6A , which is consistent with our findings [ 3 , 15 , 18 ]. Additionally, we further found that the incidence of CHD in male patients with KS2 was significantly higher than that in female patients with KS2. Thus, we assume that CHD also manifests as a sex-specific difference.

In our study, clinical manifestations including short stature, microcephaly, cleft palate, feeding difficulties, hypotonia, etc., had no difference in the incidence between KS2 male and KS2 female patients. But this may be related to the small number of cases being studied.

As mentioned earlier, KS1 patients tend to have more typical clinical manifestations than KS2 patients. However, on the contrary, it has been reported that the incidence of hypoglycemia was higher in patients with KS2 than in those with KS1. Kai et al. reported ten cases of hyperinsulinemic hypoglycemia among patients with KS, among which five cases were KS2 [ 19 ]. In our cohort, two patients were diagnosed with hyperinsulinemic hypoglycemia, among whom Patient 4 required maintenance with glucose transfusion treatment due to persistent hypoglycemia and severe feeding difficulties. When his intravenous glucose level was 2.0 mmol/l, his insulin level was up to 5.5 µIU/ml, and his C-peptide level was 0.46 nmol/l, which indicated hyperinsulinemic hypoglycemia. After obtaining informed consent from the patient’s parents, we administered diazoxide for treatment. During the treatment, the peripheral blood glucose level was maintained at about 4 mmol/L, and there were no adverse reactions. Although the etiology of hyperinsulinemic hypoglycemia in patients with KS is still unclear, its reported onset age in these patients is young, suggesting that KS may be one of the potential genetic factors of hypoglycemia in infants and young children [ 19 , 20 , 21 ]. The mechanism of pathogenic variation in the KDM6A gene leading to hyperinsulinemic hypoglycemia is unclear.

The KDM6A gene consists of 29 exons and contains a key domain, Jumonji C (JmjC), whose integrity is essential for maintaining histone demethylase activity. The loss of function of the KDM6A gene causes KS2, and we found nine different variants in 12 patients with KS2. Four of them were frameshift variants located in exons 1, 16, 17, and 19, and one was a nonsense variant located in exon 15. The three missense variants were located in exons 1, 6, and 19 (Fig.  2 ). Combining our data with previously published cases showed no obvious hot spots or regions [ 5 , 22 ]. However, all null variant sites in our cases were located in front of the JmjC domain, causing premature termination of gene transcription.

figure 2

KDM6A genotype of 12 patients with Kabuki syndrome type 2

Histone modification is an important part of epigenetics, and different histone modifications have different effects on downstream genes. Methylation of H3K4 plays a role in transcriptional activation, whereas methylation of H3K27 plays a role in transcriptional inhibition [ 23 ]. The methylation markers of H3K27 were labeled with Polycomb proteins and removed by KDM6 demethylases, of which KDM6A is an important member [ 24 , 25 ]. KDM6A is located on the X chromosome, not in the pseudoautosomal region segment, but escapes X chromosome inactivation [ 26 ]. Although UTX homologue UTY is found on the male Y chromosome, it was thought to lack demethylation in vitro. As for KS patients with the same variant site, the difference in phenotype between female and male patients may result from the functional difference between UTX and UTY. However, some recent studies have shown that UTY still has an important physiological role [ 27 ]. Female homozygous mice could not survive, while hemizygous males could reflect the residual function of UTY [ 28 ]. Human KDM6A and UTY transcripts show up to 88% complementary DNA homology and 86% predicted amino acid homology [ 29 ]. Both carry the JmjC domain, which is extremely important for demethylation [ 30 ]. However, based on our case–control studies and previously reported cases, there are differences in the phenotypic severity of KS2 between the sexes. This phenomenon still requires more case support, and the mechanism still needs to be further explored.

Limitations

Although our study described a KS2 cohort with 12 patients, we also conducted a case–control study that revealed the phenotypic differences between male and female patients with KS. Nevertheless, some limitations should be noted. First, the number of cases in this study was limited. These 12 patients with KS2 were diagnosed within four years at a single center. Considering the rarity of KS2, the diagnosis rate was not low. In future studies, we will collect more cases and conduct multi-center studies to further analyze the phenotype and genotype of patients with KS2. Second, most of the children in our control group did not undergo genetic testing, because genetic testing is not a routine test item for normal children. Therefore, we could only exclude children with other causes of ID based on imaging or laboratory examinations. Third, we did not dynamically monitor the level of patients’ intellectual development and did not repeatedly evaluate patients’ IQ, and this is what we need to further improve in the future. By doing this, more convincing results can be obtained. In addition, for the assessment of CHD, the data we obtained may be biased, because whether the three adult patients had CHD in childhood could only be recalled without objective evidence. In future studies, a greater collection of children’s cases can solve this problem.

This study analyzed and summarized the spectrum of genotype and phenotype of 12 KS2 patients. In addition, through a case–control study, we further confirmed that there were sex-specific differences in the clinical phenotypes of patients with KS2. Compared to female patients, male patients had a higher incidence of CHD and significant mental retardation. The phenotypes of female patients were always milder.

Availability of data and materials

No datasets were generated or analysed during the current study.

Abbreviations

Kabuki syndrome

  • Kabuki syndrome type 2

American College of Medical Genetics and Genomics

Intelligence Quotient; ID: intellectual disability

Congenital heart disease

Shanghai Children’s Medical Center

Atrial septal defect

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Acknowledgements

We are deeply grateful to the patients and their families for participating in this study.

This work was supported by Jin Lei Pediatric Endocrinology Growth Research Fund for Young Physicians (PEGRF) (NO. PEGRF201809004) and Joint Research Project of the Pudong New Area Health Commission (PW2021D‐13).

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Yirou Wang and Yufei Xu contributed equally to this work.

Authors and Affiliations

Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center,, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Yirou Wang, Yao Chen, Qun Li & Xiumin Wang

Department of NeurologySchool of Medicine, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Yufei Xu, Jian Wang & Xiumin Wang

Children Health Advocacy Institute, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Yabin Hu & Shijian Liu

School of Public Health, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shijian Liu

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YRW, and YFX participated in molecular genetic studies and writing of the manuscript; CY and LQ collected and submitted clinical information;YBH and SJL made a statistical analysis of the data; JW participated in molecular genetic studies and performed NGS experiments and Sanger sequencing; XMW conceived and designed the study. All authors read and approved the final manuscript.

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Correspondence to Xiumin Wang .

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Informed consent was obtained from the children and their parents. Informed consent was obtained from guardians of children under 8 years old. Informed consent was completed by the guardian of patient 3 due to her low reading ability, and informed consent was obtained from both patients and their guardians for patient 6. The study was approved by the Institutional Review Board of the SCMC (No. SCMCIRB-K2020060-1).

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Wang, Y., Xu, Y., Chen, Y. et al. Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study. BMC Pediatr 24 , 133 (2024). https://doi.org/10.1186/s12887-024-04562-z

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    The purpose of this qualitative case study was to understand a child's experience with a learning disability (LD) through the way that they cope with it, and how self-esteem, self-efficacy, ... the case of a learning disability is conceptualized as external academic stresses and the aforementioned internal difficulties. Coping is a gateway to ...

  21. LEARNING DISABILITY : A CASE STUDY

    LEARNING DISABILITY : A CASE STUDY. Dr Yashpal D Netragaonkar. The present investigation was carried out on a girl name Harshita who has been identified with learning disability. She is presently studying at 'Udaan' a school for the special children in Shimla. The girl was brought to this special school from the normal school where she was ...

  22. Almost a third of disabled children and teenagers face abuse, global

    About one-third of young children and teenagers with disabilities faced emotional and physical abuse, while 20% experience neglect and one in 10 sexual violence, according to international ...

  23. From staring to reaching

    A Journey to Stare Then Reach - a case study of a special child. This is a story of a little angel of in the school Durgabhai Deshmukh Vocational Training and Rehabilitation Centre. The mother of the little angel is a homemaker while her father was working at a press. Little angel was the first child of her parents and was born on 19th March 2012.

  24. Sex-specific difference in phenotype of Kabuki syndrome type 2 patients

    To further explore the gender differences in intelligence levels among KS2 patients, we conducted a case-control study with the age- and gender-matched children as the control group. As for the controls, we selected 200 children who underwent a physical examination and an intelligence test at the Children's Health Department of SCMC from ...