case study developmental disability

• Case report
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• Published: 25 January 2021

Genetic developmental disability diagnosed in adulthood: a case report

• Adam Langenfeld   ORCID: orcid.org/0000-0002-7356-2819 1 ,
• Lynn Schema 2 &
• Judith K. Eckerle 3  

Journal of Medical Case Reports volume  15 , Article number:  28 ( 2021 ) Cite this article

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Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues.

Case presentation

In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor.

Conclusions

This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

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Developmental disabilities (DD) is an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas [ 1 ]. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues [ 2 ].

Children may demonstrate delays in specific areas, such as speech or fine motor delays, or may have deficits in all areas of growth and development, a condition referred to as global developmental delay. In children who have DDs, identification of the underlying cause of their delays can be challenging. The underlying cause of DDs can be due to a variety of factors, including differences in caregiver interactions, environmental or toxin exposures, and genetic mutations, among others. In addition, DDs often arise from multifactorial causes, making identification of the important contributing factors particularly challenging.

When evaluating children for DDs, practitioners must take a systematic approach to ensure that different contributing factors are considered before making a definitive diagnosis. Current guidelines from the American Academy of Pediatrics (AAP) [ 3 ] and American College of Medical Genetics (ACMG) [ 4 ] recommend the use of genetic testing, in addition to thorough medical, family, and social histories and a detailed physical exam. Children with a clinical diagnosis of ID should have a comparative genomic hybridization (CGH) microarray to identify copy number variants that can be associated with DD or ID [ 5 , 6 ]. In addition, guidelines recommend testing for Fragile X syndrome, the most common inherited cause of ID. Thorough past medical, family, and social histories and a detailed physical exam can help identify concerning features that will guide more specific testing.

Although current practice guidelines often help physicians identify underlying causes for DD and ID, 60% of children with DDs do not have an identifiable cause [ 7 ]. A child who has previously received a clinical diagnosis of DD or ID may benefit from re-evaluation and additional testing, as the knowledge base surrounding genetic disorders continues to expand.

In this case study, we describe an 18-year-old female patient being seen in the Adoption Medicine Clinic at the University of Minnesota. This patient had a diagnosis of intellectual disability as well as identified developmental delays while living in an orphanage in China prior to adoption, but she had not had previous genetic testing. This case highlights the importance of including genetic testing in the workup of a child with ID to identify underlying genetic causes of these delays, regardless of age or other environmental factors.

The patient was an 18-year-old Chinese American female being evaluated in the Adoption Medicine Clinic (AMC) at the University of Minnesota. She had been adopted at age 3 years from China. Prior to adoption, she had lived in an orphanage after being relinquished by her biological parents at the age of 5 months. Her previous medical history included a ventricular septal defect (VSD) that was repaired prior to adoption and bilateral strabismus that had been repaired during childhood. She had a resting bilateral hand tremor that was diagnosed as psychogenic by Pediatric Neurology. There was a history of delayed developmental milestones, including gross motor and speech delays. The patient did not start walking until approximately age 24 months. She did not start speaking in phrases or sentences until age 4. Following adoption, the patient’s adoptive mother attempted to obtain resources to help support the patient’s growth and development. She received occupational therapy services from age 3 to 4 years, but this had been discontinued due to lack of insurance coverage. Throughout childhood the family had difficulty obtaining appropriate therapeutic support, and the patient was moved to multiple school districts to identify and obtain resources. She was able to secure financial support from county services at age 16. Despite these challenges, the patient was able to continue to generally progress with her developmental milestones.

The patient had a history of intellectual disability. She had a school individualized education program (IEP) evaluation at age 13 that revealed a full-scale intelligence quotient (IQ) of 70. She was provided school services under the category Developmental Cognitive Disability, mild-moderate. She was evaluated by Pediatric Neuropsychology at age 15 due to ongoing concerns for intellectual disability and developmental delays and was diagnosed with mild intellectual disability and static encephalopathy. She was subsequently evaluated by Pediatric Neurology, who agreed with these diagnoses. The patient also underwent diagnostic testing for autism spectrum disorder (ASD) at age 15, which was not consistent with an ASD diagnosis.

As the patient reached adolescence, she began to have significant difficulty with emotional regulation and mood and was diagnosed with severe depression. She was hospitalized on two separate occasions due to concerns for anxiety, depression, self-injurious behaviors, and suicidal ideation. She was referred for psychotherapy and had been maintained on mood-stabilizing medications, including fluoxetine and escitalopram. She was taking escitalopram at the time of evaluation. The patient previously had dialectical behavioral therapy (DBT) and eye movement desensitization and reprocessing (EMDR) therapy. She had also been treated for an eating disorder at an outpatient program. Throughout adolescence, she continued with social isolation and self-injurious behaviors, including skin picking and cutting, although her mood had improved following initiation of medications and therapy. She had recently started with a mental health coach prior to her evaluation. The patient and adoptive mother had ongoing attachment difficulties. The patient also reported a history of poor sleep related to anxiety and use of electronics prior to bedtime. She was taking melatonin.

At the time of her visit to the AMC, despite the presence of known global delays, diagnosis of mild intellectual disability, and a history of congenital cardiac disease, the patient had not undergone genetic testing. The family had established contact with the patient’s biological family. There was no known consanguinity between parents. She had an older sibling with a hand deformity and a younger sibling without identified medical concerns. Neither sibling was reported to have developmental delays. There was no family history of substance abuse or mental health issues. The patient had an adaptive IEP with occupational therapy support and a plan to transition to adulthood following her senior year of high school. Of note, the patient had spent the majority of ninth grade homebound due to anxiety symptoms and was in a half-day therapy program throughout tenth grade.

On clinical evaluation, the patient displayed appropriate growth and physical development. Weight-for-age was 67th percentile and height-for-age was 37th percentile. Body mass index (BMI) was age-appropriate at 72nd percentile. Vital signs, including blood pressure (91/70) and heart rate (71), were age-appropriate. She did not display any dysmorphic features. She had evidence of self-injurious behaviors, including healed scars on her arms and evidence of skin picking on her scalp. She had a healed surgical incision from her VSD repair. She did not display physical findings consistent with fetal alcohol syndrome. Examination of head and neck was unremarkable. Lungs were clear to auscultation. She demonstrated a quiet systolic heart murmur best heard at her left upper sternal border. Her abdomen was soft and non-tender. Cranial nerves were intact. Deep tendon reflexes were symmetric. She demonstrated appropriate bilateral muscle strength and tone. Laboratory values, including complete blood count (CBC) and vitamin D levels, were within normal limits. She had evidence of stage 2 iron deficiency with low ferritin and elevated iron-binding capacity. She was started on an iron supplement. As part of her clinical workup, the patient was evaluated by a genetic counselor, who recommended obtaining a comparative genomic hybridization (CGH) and single-nucleotide polymorphism (SNP) microarray and testing for Fragile X syndrome, given her history of developmental delays and diagnosis of intellectual disability. She was referred to occupational therapy for management of her sensory sensitivities and fine motor delays.

Chromosomal microarray identified a 6.8 Mb deletion at chromosome location 5p15.31-5p15.33 (arr[GRCh37] arr[GRCh37] 5p15.33p15.31(26142_6858476)x1). This area of chromosome 5 is included in the larger deletion associated with Cri-du-chat syndrome. Although smaller than the typical Cri-du-chat deletion, this patient’s deletion was a likely explanation for her history of developmental delays, intellectual disability, and short stature. It may also have contributed to her congenital heart defect. Interestingly, on further discussion with the adoptive mother and review of medical records, it was found that the patient displayed the characteristic high-pitched cry of Cri-du-chat syndrome during infancy. This patient was referred for further evaluation by a medical geneticist and encouraged to contact her biological family to discuss the genetic testing results and whether any further testing of her siblings was warranted. She was formally seen and assessed by a geneticist and genetic counselor. At that time, additional genetic testing through a karyotype was pursued, which was able to rule out the possibility that this terminal deletion was the result of a translocation. That visit was also critical in determining whether any additional testing or healthcare management was indicated based on the genes included in the deleted region, and to discuss implications for inheritance and future childbearing. She was evaluated by Neurology and underwent brain magnetic resonance imaging (MRI) that revealed no intracranial abnormalities other than a presumed incidental cavernoma in the right thalamus that did not correlate with her symptoms.

Discussion and conclusions

This case highlights the important role of genetic testing in evaluation of children with developmental disabilities, even when potential causes for delay have been identified. In this case, the patient had been identified as having developmental delays from a young age. She had potential causes for delay in her social history, including unknown social history with her biological parents until age 5 months and institutional neglect related to living in an orphanage until age 3 years. However, despite her diagnosis of intellectual disability and strabismus, as well as an underlying congenital cardiac condition requiring surgical repair prior to adoption, she had not had previous genetic testing. This delay in testing may have been due to healthcare and academic professionals attributing her delays to her history of institutional neglect and multiple caregiver transitions in early childhood rather than an underlying genetic cause. When she underwent genetic testing at the age of 18 years, she was found to have a deletion on chromosome 5. It was only after diagnosis and subsequent investigation that her history of a characteristic cat-like cry during infancy was revealed. This case demonstrates a unique presentation of a genetic cause for developmental delay and supports existing evidence of phenotypic variation related to the size and location of chromosome 5 deletions associated with Cri-du-chat syndrome [ 8 , 9 , 10 ].

Developmental disability often results from a combination of factors, and identifying the underlying causes of DDs can be challenging. Even when potential causes of DDs have been identified, it is important to fully investigate for other causes when possible to optimize the resources provided to help improve long-term outcomes for children. Early intervention with a medical diagnosis may provide a child with increased school and county services. Family, school, and professional understanding of a child’s diagnosis and limitations can help normalize behaviors and expectations and potentially limit a child’s feeling of “other” and difference from peers, leading to improved psychosocial and self-esteem outcomes. When evaluating a child for ID, the standard of practice includes obtaining broad genetic testing to evaluate for possible genetic causes, in addition to thorough past medical, family, and social histories and detailed physical exam. This is true even for children who have experienced orphanage or foster care. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

Cri-du-chat syndrome is a congenital syndrome associated with deletion of part of the short arm of chromosome 5 [ 10 , 11 , 12 ]. Deletions can vary in size from extremely small to the entire short arm. Most cases arise from de novo mutations, although approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. It is one of the most common genetic deletion syndromes, with an incidence of 1 in 20,000 to 1 in 50,000 live births. Cri-du-chat syndrome is characterized in young children by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low-set ears, hypotonia, and severe developmental delays [ 10 ]. The most characteristic feature is a high-pitched, cat-like cry that is considered diagnostic. However, individuals with a deletion confined to 5p15.3 on chromosome 5 have been found to display the cat-like cry without typical dysmorphic and severe developmental features of the syndrome [ 8 , 9 ]. In this case, the patient’s chromosomal microarray demonstrated a 6.8 Mb deletion at 5p15.31-5p15.33, consistent with this milder phenotype. Thus, the patient’s history of high-pitched cry, cardiac defect, ophthalmological issues, mild neurocognitive issues, and developmental delays were likely secondary to her chromosomal deletion, in addition to her history of institutionalization and the trauma of multiple transitions and neglect in early childhood.

Developmental disability can be due to a variety of factors. Thorough investigation of the underlying causes of intellectual disability includes a detailed medical and social history, physical exam, and use of genetic testing with chromosomal microarray and testing for Fragile X syndrome, the most common cause of inherited intellectual disability. This case highlights the importance of genetic testing in the evaluation of a patient with developmental disability, as well as the fact that even a child with a known history of causative factors for developmental delay will still benefit from comprehensive assessment including genetic testing. Practitioners should utilize genetic testing for patients with identified developmental and intellectual disabilities, even in adolescent and young adult patients for whom potential underlying causes have previously been identified. Results from genetic testing can help guide further evaluation, including imaging and laboratory studies, and management of associated symptoms. Intervention with a medical diagnosis can lead to increased access to county and social services, improved understanding of behaviors in the home and school setting, and better long-term psychosocial and self-esteem outcomes.

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Abbreviations

Developmental disabilities

Intellectual disabilities

American Academy of Pediatrics

American College of Medical Genetics

Comparative genomic hybridization

Adoption Medicine Clinic

Ventricular septal defect

Dialectical behavioral therapy

Eye movement desensitization and reprocessing

Individualized education program

Intelligence quotient

Autism spectrum disorder

Single-nucleotide polymorphism

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Acknowledgements

The authors would like to thank the patient and family for participating in this case presentation.

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Adam Langenfeld

Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, 606 24th Avenue S, Suite 500, Minneapolis, MN, 55454, USA

Lynn Schema

Division of General Pediatrics and Adolescent Health, Department of Pediatrics, University of Minnesota, 717 Delaware Street SE, Minneapolis, MN, 55414, USA

Judith K. Eckerle

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All authors contributed to patient care and decision-making. AL prepared the first manuscript draft and formatted the final manuscript draft for publication. LS and JE provided major contributions in preparing and editing the manuscript. All authors read and approved the final manuscript.

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Correspondence to Adam Langenfeld .

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Langenfeld, A., Schema, L. & Eckerle, J.K. Genetic developmental disability diagnosed in adulthood: a case report. J Med Case Reports 15 , 28 (2021). https://doi.org/10.1186/s13256-020-02590-8

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• Developmental disability
• Intellectual disability
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• Chromosome 5
• Cri-du-chat syndrome

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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.

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 – 4.8MB] ,” an emergency preparedness training program developed through the Oregon Office of Disability and Health .

“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 for sharing this personal story.

Learn about emergency preparedness for people with disabilities »

Jerry’s Story

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 – 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 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 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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CLARISSA KRIPKE, MD

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Developmental disabilities are attributable to a cognitive impairment, physical impairment, or both. They manifest during the developmental period from birth to early adulthood, and are likely to continue indefinitely. The life expectancy of most persons with developmental disabilities now approaches that of the general population. According to the neurodiversity model of care, developmental disability is accepted as a valued part of human neurologic diversity. The social model focuses on improving participation in society with accommodations such as adaptive equipment or improvements to the social and physical environment. The goal of health care for patients with developmental disabilities is to improve their well-being, function, and participation in family and community. Physicians should communicate directly with their patients, even those who have communication or cognitive differences. Communication may include speech, sign language, writing, letter boards, voice output devices, pictures, facial expressions, gestures, vocalizations, and behavior. Supported decision making is a paradigm, support practice, and emerging legal structure that focuses on assisting patients with communicating their wants and needs as an alternative to guardianship or power of attorney. When establishing care, it is critical to get a detailed history of baseline traits and characteristics in the areas of cognition and communication; neuromuscular function; sensory function such as vision, hearing, and sensory processing; seizure threshold; mental health; and behavior. In general, guidelines for age-appropriate health maintenance in the general population should be followed unless the risk outweighs the benefit for an individual patient. With accurate diagnosis, psychiatric conditions can be treated effectively with the same medical, behavioral, and therapeutic modalities used in the general population. Just like any patient, those with developmental disabilities should have access to a full range of life-sustaining, curative, and end-of-life services.

Developmental disabilities are attributable to a cognitive impairment, physical impairment, or both. They manifest during the developmental period from birth to early adulthood, and are likely to continue indefinitely. Developmental disabilities result in substantial functional limitations in three or more areas of major life activity, including self-care, receptive and expressive language, learning, mobility, self-direction, capacity for independent living, and economic self-sufficiency. 1 Common diagnoses associated with developmental disabilities include cerebral palsy, intellectual disability, autism, and epilepsy.

The life expectancy of most persons with developmental disabilities now approaches that of the general population. 2 For example, the mean age of death for a person with an intellectual disability was 19 years in the 1930s and 66 years by the 1990s, and it continues to improve. 2 The civil rights of persons with disabilities have also advanced as they have been fully integrated into mainstream society, including medical practices. Family physicians can help patients with developmental disabilities maximize their potential by presuming they have an ability to learn and using appropriate communication support tools. Physicians can also help by responding promptly to urgent medical problems, providing age-appropriate health maintenance, and assessing risk to prevent secondary complications.

Medical vs. Neurodiversity and Social Models of Disability

Persons with disabilities are often healthy, and disability should be distinguished from illness. In the medical model, disability is viewed as a deficiency or disease that needs to be overcome. However, persons with developmental disabilities have a wide range of strengths, challenges, and support needs. The neurodiversity and social models view disability as a natural part of the human experience. They focus on maximizing potential as opposed to normalization, and encourage individuals with disabilities to pursue their strengths while mitigating weaknesses. 3 The neurodiversity model accepts developmental disability as a valued part of human neurologic diversity. 4 , 5 The social model focuses on improving participation in society with accommodations such as adaptive equipment or improvements to the social and physical environment. 6

The goal of health care for patients with developmental disabilities is to improve their well-being, function, and participation in family and community. It is not always necessary or desirable to try to change a person's traits and characteristics to make them appear or behave more normally. The distinction between the medical, neurodiversity, and social models has important implications for medical care.

For example, in the medical model, persons with a mobility impairment might receive intensive physical therapy, surgery, and braces to help them walk. In the social model, interventions might include a motorized wheelchair; wheelchair lifts, ramps, and scales; and adaptive physical education for strength and cardiovascular health. In the medical model, someone with dysarthria might be referred for speech therapy to improve articulation because people primarily communicate through speech. However, in the neurodiversity model, the individual's most effective means of communication would be accepted because his or her potential for producing clear, fluent speech might be limited, slow, and effortful. Therefore, he or she might use augmentative and alternative communication such as pointing to picture icons or typing on a keyboard, which might allow more complex thoughts to be communicated clearly and to a broader audience. He or she also might receive a voice output device to translate picture icons or text into sound. In the medical model, persons with short stature might receive growth hormone, whereas in the social or neurodiversity model, they may be referred to vocational training to pursue a career that interests them and for which they can perform the essential functions with or without accommodations.

Accommodations and Access

Regardless of functional limitations, with appropriate medical care, accommodations, and decision-making support, persons with developmental disabilities can live quality lives in their own homes and communities. Accommodations can include disability services, housing modifications, and adaptive equipment. Physicians can support full inclusion and access to medical care for patients with disabilities by ensuring that their practices comply with guidelines for physical access. 7 This may require investments in adaptive equipment, such as wheelchair scales and lifts and high-low examination tables, and implementation of programmatic changes, such as longer appointments, reduced wait times, and home visits. For some patients, access can be improved with changes to the sensory environment, such as eliminating strong scents, and turning down alarms, televisions, and fluorescent or bright lights. 7

Approach to Communication and Supported Decision Making

Communication is the foundation of patient care. Communication can include speech, sign language, writing, letter boards, voice output devices, pictures, facial expressions, gestures, vocalizations, and behavior. 8 The physician should first note the patient's intent because, for example, not all movements are meant to be communication. Persons with cerebral palsy or autism may have difficulty controlling movements, and these involuntary movements can be impulsive or reflect difficulty with inertia. This can be misinterpreted as intellectual disability, lack of interest, aggression, or defiance. 9 , 10 Physicians should communicate directly with their patients, even those who have communication or cognitive differences. Gathering information directly from patients, as much as possible, is important because only they can report on their internal thoughts and symptoms. Patient perspectives may differ from that of family members, supporters, or physicians (see a related Close-ups piece previously published in American Family Physician at https://www.aafp.org/afp/2009/0601/p955.html ). With direct, respectful communication, a more accurate history can be obtained ( Table 1 ) .

Even with the best efforts, it is not always possible to accurately interpret someone's verbal or nonverbal communication. However, success rates improve with practice and employing a variety of strategies, such as establishing how a patient communicates yes and no, offering choices, or allowing extra time for the patient to respond. Using communication aids, such as plain language, picture supports, demonstrations, and alternative formats (e.g., electronic readers; large print; translations, such as into braille or the reader's native language) may be helpful. If a communication attempt is unsuccessful, future attempts are still important. At a minimum, patients should be included in discussions about decisions that impact them. At those meetings, physicians and others present should communicate directly with patients, even if they do not reliably respond. 11 For patients who do not have an effective method of expressive communication, a toolkit to assist with accessing communication assessments, adaptive equipment, and augmentative and alternative communication is available at http://odpc.ucsf.edu/communications-paper .

Individuals who accompany patients to appointments or who provide personal assistance have traditionally been called caregivers. However, the term supporter can encourage person-centered thinking that respects the patient's autonomy, even if the patient requires assistance to communicate or make decisions. 12 Supporters are helpful in a variety of ways. They can provide ancillary information, translate or interpret unclear speech or nonverbal communication, and break down concepts in a way the patient can understand. They can also report back if the patient needs time to process information outside of the appointment or help implement the health care plan. When a supporter speaks for a patient and the physician is unable to confirm the information directly with the patient, he or she can clarify the authenticity of the information by asking the supporter, “How do you know?” or “Did you ask the patient?” A video on working with persons who cannot communicate clearly is available at http://www.uctv.tv/shows/When-Listening-is-Complicated-Skills-for-Honoring-the-Individual-Perspectives-of-Every-Person-with-Disabilities-32191 .

Supported decision making is a paradigm, support practice, and emerging legal structure that focuses on assisting patients with communicating their wants and needs. It is an alternative to guardianship or power of attorney, which rely on the opinion of a third party to determine what is in the patient's best interest. 13 , 14 With supported decision making, patients retain their legal capacity. Instead of transferring decision making to a power of attorney or having a judge or hospital protocol assign a proxy decision maker, patients choose one or more supporters they trust, select the type of support they want, and receive help to make decisions or to communicate. Supported decision making acknowledges that a person's capacity fluctuates, while assuming that the ability to make and communicate choices often improves with support.

Even without disabilities, learning to make decisions in one's own best interest takes practice, some risk-taking, and learning from mistakes. 13 , 14 For example, few adults would make all of the same decisions they did when they were younger because they have had the opportunity to learn from their experiences. Supported decision making affords persons with disabilities the same opportunity. eTable A includes resources for more information about supported decision making.

Baseline Traits and Characteristics

In patients with complex disabilities, illness often presents as a change in behavior or function. Therefore, when establishing care, it is critical to get a detailed history of baseline traits and characteristics in the areas of cognition and communication; neuromuscular function; sensory function such as vision, hearing, and sensory processing; seizure threshold; mental health; and behavior. This baseline assessment will also help determine whether the patient is at risk of secondary medical problems and which primary and secondary prevention strategies, accommodations, and adaptive equipment are most likely to be beneficial ( Table 2 15 – 24 ) .

Most adults with developmental disabilities have had genetic, diagnostic, cognitive, speech, occupational, physical, educational, vocational, or developmental assessments. If assessments are outdated, referrals may be warranted. Accurate and thorough record keeping is critical because patients and supporters may not be able to provide a detailed medical history. Some conditions, such as dementia, may be more difficult to diagnose in the future without this baseline information. Systematically comparing current with past function is essential to recognizing treatable medical problems and rehabilitation potential.

Each area of function should be assessed independently because deficits in one area can be mistaken for deficits in another. For example, many patients who cannot speak or hear are assumed to have intellectual disabilities. Patients who routinely use wheelchairs to attend medical appointments may also be able to stand, walk, or crawl up stairs. Strengths in one area can mask challenges in another. For example, a patient who is fluently conversational may have significant problems with basic activities of daily living because of issues with memory or executive function that are not apparent in an examination room.

Health Maintenance

In general, guidelines for age-appropriate health maintenance in the general population should be followed for those with developmental disabilities unless the risk outweighs the benefit for an individual patient. In addition, because targeted physical examination and diagnostic testing may be less reliable in persons with communication, sensory, or cognitive challenges, physicians should be proactive at health maintenance visits to identify possible health problems with a complete history, physical examination, screening tests, and functional assessment. 25 , 26 Because of risk factors for dental problems in persons with developmental disabilities ( eTable B ) , preventive dental care is paramount. 27

Studies of comprehensive yearly health checks in persons with developmental disabilities reveal that unrecognized and undertreated medical problems are common. 28 Illnesses are often recognized later in the disease process, and atypical presentations of illness may not be triaged appropriately. Examples of presenting signs and symptoms of commonly unrecognized and undertreated conditions in patients with developmental disabilities are included in Table 3 . Ensuring timely care may require more frequent office visits and adjustments to office protocols. 29 Table 4 includes toolkits to help physicians optimize care for patients with developmental disabilities.

Sexual Health

Persons with developmental disabilities can and do have sex, marry, and have children. 30 , 31 They have a full range of sexual orientations. Gender dysphoria has been found to be particularly common among persons with autism. 32 Adults with developmental disabilities should receive sex education and access to a full range of reproductive services. 33

Pain Assessment

Because pain is an internal sensation, communication difficulties can complicate the assessment. Persons with developmental disabilities often have atypical behavior in response to pain. For example, they may not grimace, cry, or clutch the part of the body that hurts. Supporters often report that patients with developmental disabilities have a high pain threshold. This interpretation may be accurate because of atypical sensory processing, or the patient may feel the pain but does not show recognizable signs of distress. Conversely, some persons with developmental disabilities may be sensitive to normally benign stimuli such as touch, sounds, or abrupt changes in light, which create painful sensations. Empiric trials of pain medication may be necessary when assessment is uncertain.

Psychiatric and Behavioral Concerns

Persons with developmental disabilities have high rates of psychiatric problems. 34 The Diagnostic and Statistical Manual for Intellectual Disability (DSM-ID-2) can assist physicians in making psychiatric diagnoses in persons with intellectual disabilities who may have atypical signs and symptoms. 35 Generally, with accurate diagnosis, psychiatric conditions in patients with developmental disabilities can be managed effectively with the same range of medical, behavioral, and therapeutic modalities used to treat these conditions in the general population. 36

When assessing maladaptive behaviors, it is important to evaluate and treat the cause rather than merely suppress the behavior. Maladaptive behavior is often a manifestation of a medical or environmental problem, and is an opportunity to improve communication or to provide a better way to make sure the patient's needs are being met.

When interpreting behavior, it is important to consider the patient's ability to respond to potential mis-treatment or abuse. Some persons with developmental disabilities have had extensive educational and therapeutic interventions focused on improving their compliance with the expectations of authority figures such as parents and teachers.

Persons with developmental disabilities who have been taught to comply, especially those who need assistance with activities of daily living, may not have been encouraged or taught to set personal boundaries or to recognize or communicate when they are being mistreated or abused. These patients may be particularly vulnerable.

End-of-Life Care

Supported decision-making principles are particularly important when patients are facing a life-threatening illness. Terminal illness does not have to lead to a loss of autonomy, dignity, relationships, housing, or self-determination. Persons with developmental disabilities typically report higher quality of life than is perceived by others who are not disabled. 37 Awareness of unconscious bias and how it can influence goals of care conversations is paramount. 38 Family physicians can help hospital teams distinguish patients who have significant functional limitations but who are relatively healthy from patients who have serious, progressive illnesses. Family physicians are important advocates for their patients to access a full range of life-sustaining, curative, palliative care, and hospice services.

This article updates a previous article on this topic by Prater and Zylstra . 39

Data Sources: A PubMed search was completed in Clinical Queries using the key terms supported decision making and developmental disability. The search included systematic reviews, randomized controlled trials, and clinical trials. Also searched were Essential Evidence Plus, the Canadian Task Force on Preventive Health Care, National Guideline Clearinghouse, Cochrane Database of Systematic Reviews, and the Agency for Healthcare Research and Quality Clinical Guidelines and Evidence Reports. Search date: January 4, 2017.

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Coppus AM. People with intellectual disability: what do we know about adulthood and life expectancy?. Dev Disabil Res Rev. 2013;18(1):6-16.

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Nicolaidis C. What can physicians learn from the neurodiversity movement?. Virtual Mentor. 2012;14(6):503-510.

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U.S. Department of Justice. Civil Rights Division. Americans with Disabilities Act. Access to medical care for individuals with mobility disabilities. July 2010. https://www.ada.gov/medcare_mobility_ta/medcare_ta.htm . Accessed April 18, 2017.

Federal Communications Commission. Individuals with cognitive disabilities: barriers to and solutions for accessible information and communication technologies. October 6, 2016. http://transition.fcc.gov/Daily_Releases/Daily_Business/2016/db1006/DOC-341628A1.pdf . Accessed April 18, 2017.

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Regional Centers for Workforce Transformation. What is a direct support professional and how are they different from caregivers? http://www.workforcetransformation.org/dsps-different-from-caregivers/ . Accessed December 28, 2017.

Devi N. Supported decision-making and personal autonomy for persons with intellectual disabilities: article 12 of the UN convention on the rights of persons with disabilities. J Law Med Ethics. 2013;41(4):792-806.

Division for Social Policy and Development Disability. Article 12: equal recognition before the law. https://www.un.org/development/desa/disabilities/convention-on-the-rights-of-persons-with-disabilities/article-12-equal-recognition-before-the-law.html . Accessed April 18, 2017.

Yeshokumar AK, Saylor D, Kornberg MD, Mowry EM. Evidence for the importance of vitamin D status in neurologic conditions. Curr Treat Options Neurol. 2015;17(12):51.

Fehlings D, Switzer L, Agarwal P, et al. Informing evidence-based clinical practice guidelines for children with cerebral palsy at risk of osteoporosis: a systematic review. Dev Med Child Neurol. 2012;54(2):106-116.

Houwen S, van der Putten A, Vlaskamp C. A systematic review of the effects of motor interventions to improve motor, cognitive, and/or social functioning in people with severe or profound intellectual disabilities. Res Dev Disabil. 2014;35(9):2093-2116.

Awan WA, Masood T. Role of stretching exercises in the management of constipation in spastic cerebral palsy. J Ayub Med Coll Abbottabad. 2016;28(4):798-801.

Ozel S, Switzer L, Macintosh A, Fehlings D. Informing evidence-based clinical practice guidelines for children with cerebral palsy at risk of osteoporosis: an update. Dev Med Child Neurol. 2016;58(9):918-923.

Dodd K, Watchman K, Janicki MP, et al. Consensus statement of the international summit on intellectual disability and dementia related to post-diagnostic support. Aging Ment Health. 2017:1-10.

Buda LV. Ensuring maintenance of oral hygiene in persons with special needs. Dent Clin North Am. 2016;60(3):593-604.

Rogers B, Stratton P, Msall M, et al. Long-term morbidity and management strategies of tracheal aspiration in adults with severe developmental disabilities. Am J Ment Retard. 1994;98(4):490-498.

Davis SR, Durvasula S, Merhi D, Young PM, Traini D, Bosnic-Anticevich SZ. Respiratory medication use in an Australian developmental disability clinic population: messages for health care professionals. Aust J Prim Health. 2014;20(3):278-284.

Lane KL, Thompson A, Reske CL, Gable LM, Barton-Arwood S. Reducing skin picking via competing activities. J Appl Behav Anal. 2006;39(4):459-462.

Sullivan WF, Berg JM, Bradley E, et al. Primary care of adults with developmental disabilities: Canadian consensus guidelines. Can Fam Physician. 2011;57(5):541-553.

Massachusetts Department of Developmental Services. Adult screening recommendations 2017. http://www.mass.gov/eohhs/docs/dmr/reports/health-screening-wallchart.pdf . Accessed April 18, 2017.

U.S. Department of Health and Human Services. National Institute of Dental and Craniofacial Research. Developmental disabilities and oral health. http://www.nidcr.nih.gov/health-info/developmental-disabilities/more-info . Accessed April 18, 2017.

Robertson J, Hatton C, Emerson E, Baines S. The impact of health checks for people with intellectual disabilities: an updated systematic review of evidence. Res Dev Disabil. 2014;35(10):2450-2462.

Carey IM, Hosking FJ, Harris T, et al. Do health checks for adults with intellectual disability reduce emergency hospital admissions? Evaluation of a natural experiment. J Epidemiol Community Health. 2017;71(1):52-58.

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Coren E, Hutchfield J, Thomae M, Gustafsson C. Parent training support for intellectually disabled parents. Cochrane Database Syst Rev. 2010(6):CD007987.

Strang JF, Meagher H, Kenworthy L, et al. Initial clinical guidelines for co-occurring autism spectrum disorder and gender dysphoria or incongruence in adolescents. J Clin Child Adolesc Psychol. 2018;47(1):105-115.

Greenwood NW, Wilkinson J. Sexual and reproductive health care for women with intellectual disabilities: a primary care perspective. Int J Family Med. 2013;2013:642472.

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Working with adults with developmental disabilities

There is a yawning gap between the need for and the availability of mental health services for adults with intellectual and developmental disabilities. Here are some ways psychologists can help meet that demand.

Vol. 52 No. 8 Print version: page 54

• Autism Spectrum Disorder
• Cognition and the Brain

As more individuals with intellectual and developmental disabilities (IDD) live well into adulthood, they may cope with an array and degree of mental health challenges that far outstrip the supply of specialized mental health clinicians, including psychologists. Anxiety disorders, depression, and suicidal thoughts—along with life’s more routine emotional challenges—all can impact adults living with IDD. In some cases, their vulnerability may be greater. One recent study, which looked at suicide trends in Utah, found that deaths from 2013 to 2017 were more likely among those living with autism spectrum disorder (ASD) compared with those without an ASD diagnosis (Kirby, A. V., et al., Autism Research , Vol. 12, No. 4, 2019).

“This population [of adults with IDD] is so underserved, there is such a need,” said Lisa Neitzke, PhD, BCBA, a psychologist who practices at the Adult Intellectual/Developmental Disabilities Behavioral Health Clinic at the University of Nebraska Medical Center’s Munroe-Meyer Institute. “There’s not many psychologists who have a lot of experience working with people with developmental disabilities.”

The access difficulties start with limited training opportunities for psychologists, said Marc Tassé, PhD, a professor in the Department of Psychology at The Ohio State University, which has one the few U.S. graduate programs that offers training in working with individuals with IDD across the life span. Reimbursement rates don’t help, Tassé said, noting that these adults often are covered by Medicaid and their treatment can require a lot of time. “The payment may not be at a level that these professionals want for the time they put in.” Plus, he added, many of them “refuse to see individuals with an intellectual disability because they don’t feel comfortable with the developmental condition.”

But Tassé and other psychologists who work with these adults maintain that, given the access gap, more psychologists need to step up even if it’s to treat patients only occasionally. To provide the best care, psychologists may need to consult with a trained colleague by getting a referral through organizations such as the National Association for the Dually Diagnosed (NADD). They may need to adjust their time frame and approach depending upon the patient’s cognitive level and other challenges. They should also strive to avoid missteps that erode building trust and rapport, such as interacting primarily with a family member or caregiver, he said.

Still, the broader framework of cognitive behavioral therapy and other treatment regimens apply for adults diagnosed with autism, Down syndrome, and other types of IDD, said Neitzke, also an assistant professor in the Department of Psychology at the University of Nebraska Medical Center. “Know that you have a strong skill set and that a lot of the training that you have working with neurotypical adults does generalize to the IDD population,” she said.

“You might have to make a few adaptations, but you have the skill set, you know the content, you know the strategies to utilize. Then it’s more of refining the art of the therapy.”

A complex profile

The National Institutes of Health defines intellectual and developmental disabilities as disorders that usually begin at or shortly after birth and can impact the lifelong trajectory of someone’s physical, intellectual, and emotional development. Trends indicate that more adults will be living with some type of IDD in the years to come, according to a recent analysis of federal data for children ages 3 to 17 years.

From 2015 to 2017, 17.8% of children had been diagnosed with some type of disability, including attention-deficit/hyperactivity disorder (ADHD) autism spectrum disorder, intellectual disability, and cerebral palsy, among others. This is 1.6 percentage points higher than 2009 to 2011, when 16.2% of children were diagnosed with some type of disability (Zablotsky, B., et al, Pediatrics , Vol. 144, No. 4, 2019). The study didn’t look at underlying causes, but the overall increase, driven in large part by higher percentages of children diagnosed with autism or ADHD, may reflect improvements in awareness and better access to health care, the authors wrote. While study findings vary, broadly speaking, one third to one half of children and adults with IDD also meet criteria for at least one mental health condition, said Sigan Hartley, PhD, a past-president of APA’s Div. 33 (Intellectual and Developmental Disabilities/Autism Spectrum Disorder) and an associate professor in human development and family studies at the University of Wisconsin–­Madison. They also may be coping with one or more comorbid behavioral challenges, such as repetitive behaviors or inattention, said Hartley, whose research and other work focus on adolescents and adults with IDD. “You often get a complicated profile of mental health and behavioral problems,” she said.

Recent findings also indicate some overlap between disability and gender identity. One study, which looked at five data sets involving a total of more than 600,000 people, found that those individuals who identified as transgender or gender diverse were 3 to 6 times more likely to be diagnosed with autism than those who were cisgender (Warrier, V., et al., Nature Communications , Vol. 11, 2020).

To screen and assess adults with IDD, various tools are available, such as the Reiss Screen for Maladaptive Behavior (to identify challenging behaviors), the Psychiatric Assessment Schedule for Adults with Developmental Disabilities (PAS-ADD) Checklist, and the Achenbach System of Empirically Based Assessment (ASEBA). But more education must be done so that psychologists, social workers, case managers, and other front-line workers who work with these adults are aware of the tools, Hartley said.

Another consideration, in terms of identifying mental health issues, is that the symptoms may present differently than those defined in the traditional Diagnostic and Statistical Manual of Mental Disorders (DSM), depending on the IDD, Hartley said. A helpful guide, the Diagnostic Manual—Intellectual Disability , can educate clinicians on some of those, she said.

For instance, adults with Down syndrome may not verbally express thoughts that indicate signs of depression, Hartley said. Instead, they may become more irritable, she said. They may get into arguments with coworkers more often or not want to socialize with roommates. “Things may be stressing them out more than they used to.”

Psychologists should also guard against the potential for diagnostic overshadowing, Tassé said. “They may think that [the patient] cries a lot or he’s anxious a lot because he’s got autism or because he’s got an intellectual disability,” he said. “When in fact it’s a separate condition that needs to be treated separately, as you would any other mental health condition.”

Studies highlight the gap between the need for mental health services and their availability. One study, published in 2019 and based on an online survey of 200 adults with autism living in the United Kingdom, was bluntly titled “People Like Me Don’t Get Support” (Camm-Crosbie, L., Autism , Vol. 23, No. 6, 2019). Nine out of 10 of the 200 adults surveyed reported a mental health diagnosis, most frequently anxiety or depression.

Karyn Day sought a psychologist’s help for her 26-year-old son with autism in late 2020 after watching his anxiety significantly ramp up amid the pandemic. The family tried to shield him from COVID-19 news, but her son spends a lot of time in front of the computer, making that infeasible, she said.

Immediately prior to the pandemic, he was working part time and didn’t need to see a psychologist, said Day, who lives in Missouri. By late last year, “he was having anxiety attacks within our house,” she said. “I was trying to figure out how to help him. I knew it was beyond what I could do.”

But Day felt like she was almost searching blindly as she worked her way down the list of insurance-covered providers. When her son was younger, there were social media message boards and other resources for parents of children with autism to identify expert clinicians, she said, options that seemed to vanish once her son reached adulthood. After a battery of phone calls, Day located a local psychologist who had an opening and some experience with autism.

Tailoring therapy

As therapy progresses, psychologists can adjust their approach to best align with the patient’s cognitive level and thinking style. When working with an adult who has autism, Neitzke may refrain from using more abstract concepts or metaphors, given the tendency toward more concrete thinking. Breaking down the recommended treatment into steps also can help, said Tassé, along with using a multisensory approach, perhaps combining visual aids with verbal instructions.

For example, for adults with autism trying to ease anxiety, a reminder can be set on their phones that signals when it’s time to practice their relaxation exercises, Tassé said. Other specific cues can be set, such as stopping to practice again if their smartwatch alerts them that their pulse has exceeded 110 beats a minute outside of the gym, he said. “A lot of these strategies work for everybody,” he noted, “but they are particularly important for adults with autism.”

With patients who have intellectual disabilities, Neitzke may spend the entire session working on a single skill, such as learning a deep-breathing technique to relax. Often, a family member or caregiver may join for part of that session, and Neitzke sometimes uses that as a teaching opportunity. “I might tell [the patient], ‘Can you show your mom what we talked about today?’ That helps me verify what they understood.”

Be sure to hold adults with IDD accountable for making progress, just as with any other patient, Tassé said. If the patient struggles with social anxiety and the goal is to invite a friend to a restaurant and that doesn’t happen, discuss why, and then brainstorm strategies for success before the next session, he said. “If you think that they are able to do this and that’s what you expect them to do, when they come back, they have to have done it,” he said.

Above all, when working with adult patients with IDD, such as those with Down syndrome, interact with them directly as much as possible rather than talking mostly to their family member or caregiver if treatment includes a partner or an advocate, Hartley said. This even involves little things like positioning your body facing more toward them, she said. “Ask, ‘How have you been feeling? What it’s been like to go to work? Has it been hard to get up in the morning?’”

It may take longer to get some of those details, Hartley said. “But it’s important to make sure that you have their buy-in and are engaging with what’s going on from their perspective,” she said, thus empowering them in the treatment process.

Also, language can be very powerful, Hartley said. Consult with others in the field and, as appropriate, talk with the patient about their preferences and views, she said. For example, some patients may prefer identity-first language, such as describing oneself as “an autistic adult,” while others may prefer person-first language, such as describing oneself as “an adult with autism,” and still others may have an entirely different preference.

Developing broader goals

During therapy, try to gain some insight into how the patient spends their time, Hartley suggested. Not all activities are equally beneficial in terms of promoting psychological well-being, said Hartley, who has conducted some related research looking at leisure activities in adults with Down syndrome ( Intellectual and Developmental Disabilities , Vol. 55, No. 2, 2017).

Adults with IDD should be encouraged to develop routines that involve more stimulating pursuits, such as regular exercise or opportunities to interact with others, Hartley said. A routine of swimming several times a week at the YMCA, for example, combines both physical activity and social components, she said. “We know that being around people and interacting tends to make us often feel better and have a more positive affect.”

Assessing and discussing a patient’s daily activities is particularly relevant now, given that the pandemic has disrupted jobs, programs, and other outlets, Hartley said. Day echoed that sentiment, saying that her son’s employer halted his part-time data entry job, eroding some of her son’s weekly structure and, she thinks, potentially amplifying his anxiety. “He loves the job,” she said. “He misses it terribly.”

Goal-setting also should be a routine part of therapy for adults with IDD, said Karrie Shogren, PhD, a researcher who directs the Kansas University Center on Developmental Disabilities. “They don’t always have the same opportunities to be involved in identifying and expressing the things that they want in their lives,” said Shogren, a past-president of APA’s Div. 33. “[Other individuals] may have more of a say in where they live, where they work.”

The idea is to help the patient facilitate their own person-centered planning, Shogren said. Ideally, these sorts of self-directed conversations, including creating a related action plan, should begin in adolescence or even earlier. “We want the person to be able to be actively engaged in making things happen, rather than things happening to them,” she said. “Because that’s where the empowerment and other pieces that are so important come from.”

In the end, the goals themselves aren’t any different than for adults without IDD, including pursuing a healthy life, developing social and romantic relationships, and finding an enjoyable job, Shogren said. “It’s all of those things,” she said, “it’s just the barriers that people encounter.” Shogren is the lead author of the Self-Determination Inventory System (SDIS), which includes a version tailored for adults that can be completed in about 15 minutes—though some may require more time depending on their cognitive difficulties, she said. In preliminary work, Shogren and colleagues have validated the use of the tool in adults with and without disabilities ( Intellectual and Developmental Disabilities , Vol. 59, No. 1, 2021).

Using the SDIS doesn’t require specialized expertise, and it can be combined with other assessment tools, Shogren said. “It leads to a profile of where the person is feeling that they are, in terms of their ability to make decisions and to identify their goals,” she said.

By late summer, Day said that her son’s anxiety had eased somewhat, which she attributed to the therapy as well as medication prescribed by his psychiatrist.

“They’ve helped him slowly start to get back to where he used to be,” she said. “I still think we’ve got a long way to go. But it’s at least better than it was.”

Expanding IDD knowledge

Interested in expanding your practice to occasionally work with adults who have intellectual and developmental disabilities (IDD)? Psychologists who specialize in treating these adults offer some ways to brush up on—or gain—relevant knowledge and skills:

• Consult with APA experts: Div. 33 (Intellectual and Developmental Disabilities/Autism Spectrum Disorder) provides resources online , including leadership contacts, a podcast, and a newsletter.
• Learn from NADD: The National Association for the Dually Diagnosed, a nonprofit organization, hosts conferences and webinars. The group also offers certification programs.
• Take virtual courses: Search for groups that offer continuing-educating courses online, such as the American Association on Intellectual and Developmental Disabilities, which offers more than 300 options .
• Search for IDD-specific organizations: Individual groups may have tailored resources, including conferences or webinars. For instance, the Autistic Self Advocacy Network links to an online resource library . The National Down Syndrome Congress holds an annual convention .
• Track down a local psychologist: Through one of these groups, ask for the name of a psychologist or other mental health clinician located nearby who has expertise in a particular IDD. Specialty clinics, such as a local Down syndrome clinic , can also be a resource. The Arc, which advocates for people with IDD, provides a search function to find a nearby chapter.
• Embrace team-based care: Given the complex needs of adults with IDD, be prepared to work with other clinicians, including occupational therapists, physical therapists, physicians, and other mental health professionals.

Further reading

Advancing our understanding of self-harm, suicidal thoughts and behaviours in autism Cassidy, S. A., et al., Journal of Autism and Developmental Disorders , 2020

Psychiatric conditions prevalent among adults with Down syndrome Tassé, M. J., et al., Journal of Policy and Practice in Intellectual Disabilities , 2016

Psychological therapies for people with intellectual disabilities: A systematic review and meta-analysis Vereenooghe, L., & Langdon, P. E., Research in Developmental Disabilities , 2013

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Genetic developmental disability diagnosed in adulthood: a case report

Adam langenfeld.

1 Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, 717 Delaware Street SE, Minneapolis, MN 55414 USA

Lynn Schema

2 Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, 606 24th Avenue S, Suite 500, Minneapolis, MN 55454 USA

Judith K. Eckerle

3 Division of General Pediatrics and Adolescent Health, Department of Pediatrics, University of Minnesota, 717 Delaware Street SE, Minneapolis, MN 55414 USA

Associated Data

Not applicable.

Developmental disabilities (DD) are an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues.

Case presentation

In this case study, we present an 18-year-old internationally adopted female Chinese American patient with a known history of developmental delay, intellectual disability, strabismus, and a congenital heart defect who had not been tested for genetic causes of her delay prior to presentation. When evaluated with chromosomal microarray, the patient demonstrated a deletion on the short arm of chromosome 5, an area associated with Cri-du-chat syndrome. This chromosomal deletion was a likely explanation for her history of developmental delays, intellectual disability, and congenital heart defect, in addition to her history of institutionalization and the trauma of multiple caregiver transitions in early childhood. The patient was referred for further evaluation by a geneticist and genetic counselor.

Conclusions

This case highlights that the underlying cause of developmental delay is often multifactorial, and underscores the importance of a full medical evaluation, including genetic testing, for children with intellectual disability. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

Developmental disabilities (DD) is an umbrella term for conditions associated with functional impairments in physical, learning, language, or behavior areas [ 1 ]. Intellectual disability (ID) is a type of developmental disability that results in delays in cognitive or intellectual functioning, such as reasoning, learning, and problem-solving, and adaptive behaviors including social and practical life skills. DD can be due to a variety of factors, ranging from environmental exposures to genetic mutations, and studies suggest that up to 40% of DDs may be caused by genetic issues [ 2 ].

Children may demonstrate delays in specific areas, such as speech or fine motor delays, or may have deficits in all areas of growth and development, a condition referred to as global developmental delay. In children who have DDs, identification of the underlying cause of their delays can be challenging. The underlying cause of DDs can be due to a variety of factors, including differences in caregiver interactions, environmental or toxin exposures, and genetic mutations, among others. In addition, DDs often arise from multifactorial causes, making identification of the important contributing factors particularly challenging.

When evaluating children for DDs, practitioners must take a systematic approach to ensure that different contributing factors are considered before making a definitive diagnosis. Current guidelines from the American Academy of Pediatrics (AAP) [ 3 ] and American College of Medical Genetics (ACMG) [ 4 ] recommend the use of genetic testing, in addition to thorough medical, family, and social histories and a detailed physical exam. Children with a clinical diagnosis of ID should have a comparative genomic hybridization (CGH) microarray to identify copy number variants that can be associated with DD or ID [ 5 , 6 ]. In addition, guidelines recommend testing for Fragile X syndrome, the most common inherited cause of ID. Thorough past medical, family, and social histories and a detailed physical exam can help identify concerning features that will guide more specific testing.

Although current practice guidelines often help physicians identify underlying causes for DD and ID, 60% of children with DDs do not have an identifiable cause [ 7 ]. A child who has previously received a clinical diagnosis of DD or ID may benefit from re-evaluation and additional testing, as the knowledge base surrounding genetic disorders continues to expand.

In this case study, we describe an 18-year-old female patient being seen in the Adoption Medicine Clinic at the University of Minnesota. This patient had a diagnosis of intellectual disability as well as identified developmental delays while living in an orphanage in China prior to adoption, but she had not had previous genetic testing. This case highlights the importance of including genetic testing in the workup of a child with ID to identify underlying genetic causes of these delays, regardless of age or other environmental factors.

The patient was an 18-year-old Chinese American female being evaluated in the Adoption Medicine Clinic (AMC) at the University of Minnesota. She had been adopted at age 3 years from China. Prior to adoption, she had lived in an orphanage after being relinquished by her biological parents at the age of 5 months. Her previous medical history included a ventricular septal defect (VSD) that was repaired prior to adoption and bilateral strabismus that had been repaired during childhood. She had a resting bilateral hand tremor that was diagnosed as psychogenic by Pediatric Neurology. There was a history of delayed developmental milestones, including gross motor and speech delays. The patient did not start walking until approximately age 24 months. She did not start speaking in phrases or sentences until age 4. Following adoption, the patient’s adoptive mother attempted to obtain resources to help support the patient’s growth and development. She received occupational therapy services from age 3 to 4 years, but this had been discontinued due to lack of insurance coverage. Throughout childhood the family had difficulty obtaining appropriate therapeutic support, and the patient was moved to multiple school districts to identify and obtain resources. She was able to secure financial support from county services at age 16. Despite these challenges, the patient was able to continue to generally progress with her developmental milestones.

The patient had a history of intellectual disability. She had a school individualized education program (IEP) evaluation at age 13 that revealed a full-scale intelligence quotient (IQ) of 70. She was provided school services under the category Developmental Cognitive Disability, mild-moderate. She was evaluated by Pediatric Neuropsychology at age 15 due to ongoing concerns for intellectual disability and developmental delays and was diagnosed with mild intellectual disability and static encephalopathy. She was subsequently evaluated by Pediatric Neurology, who agreed with these diagnoses. The patient also underwent diagnostic testing for autism spectrum disorder (ASD) at age 15, which was not consistent with an ASD diagnosis.

As the patient reached adolescence, she began to have significant difficulty with emotional regulation and mood and was diagnosed with severe depression. She was hospitalized on two separate occasions due to concerns for anxiety, depression, self-injurious behaviors, and suicidal ideation. She was referred for psychotherapy and had been maintained on mood-stabilizing medications, including fluoxetine and escitalopram. She was taking escitalopram at the time of evaluation. The patient previously had dialectical behavioral therapy (DBT) and eye movement desensitization and reprocessing (EMDR) therapy. She had also been treated for an eating disorder at an outpatient program. Throughout adolescence, she continued with social isolation and self-injurious behaviors, including skin picking and cutting, although her mood had improved following initiation of medications and therapy. She had recently started with a mental health coach prior to her evaluation. The patient and adoptive mother had ongoing attachment difficulties. The patient also reported a history of poor sleep related to anxiety and use of electronics prior to bedtime. She was taking melatonin.

At the time of her visit to the AMC, despite the presence of known global delays, diagnosis of mild intellectual disability, and a history of congenital cardiac disease, the patient had not undergone genetic testing. The family had established contact with the patient’s biological family. There was no known consanguinity between parents. She had an older sibling with a hand deformity and a younger sibling without identified medical concerns. Neither sibling was reported to have developmental delays. There was no family history of substance abuse or mental health issues. The patient had an adaptive IEP with occupational therapy support and a plan to transition to adulthood following her senior year of high school. Of note, the patient had spent the majority of ninth grade homebound due to anxiety symptoms and was in a half-day therapy program throughout tenth grade.

On clinical evaluation, the patient displayed appropriate growth and physical development. Weight-for-age was 67th percentile and height-for-age was 37th percentile. Body mass index (BMI) was age-appropriate at 72nd percentile. Vital signs, including blood pressure (91/70) and heart rate (71), were age-appropriate. She did not display any dysmorphic features. She had evidence of self-injurious behaviors, including healed scars on her arms and evidence of skin picking on her scalp. She had a healed surgical incision from her VSD repair. She did not display physical findings consistent with fetal alcohol syndrome. Examination of head and neck was unremarkable. Lungs were clear to auscultation. She demonstrated a quiet systolic heart murmur best heard at her left upper sternal border. Her abdomen was soft and non-tender. Cranial nerves were intact. Deep tendon reflexes were symmetric. She demonstrated appropriate bilateral muscle strength and tone. Laboratory values, including complete blood count (CBC) and vitamin D levels, were within normal limits. She had evidence of stage 2 iron deficiency with low ferritin and elevated iron-binding capacity. She was started on an iron supplement. As part of her clinical workup, the patient was evaluated by a genetic counselor, who recommended obtaining a comparative genomic hybridization (CGH) and single-nucleotide polymorphism (SNP) microarray and testing for Fragile X syndrome, given her history of developmental delays and diagnosis of intellectual disability. She was referred to occupational therapy for management of her sensory sensitivities and fine motor delays.

Chromosomal microarray identified a 6.8 Mb deletion at chromosome location 5p15.31-5p15.33 (arr[GRCh37] arr[GRCh37] 5p15.33p15.31(26142_6858476)x1). This area of chromosome 5 is included in the larger deletion associated with Cri-du-chat syndrome. Although smaller than the typical Cri-du-chat deletion, this patient’s deletion was a likely explanation for her history of developmental delays, intellectual disability, and short stature. It may also have contributed to her congenital heart defect. Interestingly, on further discussion with the adoptive mother and review of medical records, it was found that the patient displayed the characteristic high-pitched cry of Cri-du-chat syndrome during infancy. This patient was referred for further evaluation by a medical geneticist and encouraged to contact her biological family to discuss the genetic testing results and whether any further testing of her siblings was warranted. She was formally seen and assessed by a geneticist and genetic counselor. At that time, additional genetic testing through a karyotype was pursued, which was able to rule out the possibility that this terminal deletion was the result of a translocation. That visit was also critical in determining whether any additional testing or healthcare management was indicated based on the genes included in the deleted region, and to discuss implications for inheritance and future childbearing. She was evaluated by Neurology and underwent brain magnetic resonance imaging (MRI) that revealed no intracranial abnormalities other than a presumed incidental cavernoma in the right thalamus that did not correlate with her symptoms.

Discussion and conclusions

This case highlights the important role of genetic testing in evaluation of children with developmental disabilities, even when potential causes for delay have been identified. In this case, the patient had been identified as having developmental delays from a young age. She had potential causes for delay in her social history, including unknown social history with her biological parents until age 5 months and institutional neglect related to living in an orphanage until age 3 years. However, despite her diagnosis of intellectual disability and strabismus, as well as an underlying congenital cardiac condition requiring surgical repair prior to adoption, she had not had previous genetic testing. This delay in testing may have been due to healthcare and academic professionals attributing her delays to her history of institutional neglect and multiple caregiver transitions in early childhood rather than an underlying genetic cause. When she underwent genetic testing at the age of 18 years, she was found to have a deletion on chromosome 5. It was only after diagnosis and subsequent investigation that her history of a characteristic cat-like cry during infancy was revealed. This case demonstrates a unique presentation of a genetic cause for developmental delay and supports existing evidence of phenotypic variation related to the size and location of chromosome 5 deletions associated with Cri-du-chat syndrome [ 8 – 10 ].

Developmental disability often results from a combination of factors, and identifying the underlying causes of DDs can be challenging. Even when potential causes of DDs have been identified, it is important to fully investigate for other causes when possible to optimize the resources provided to help improve long-term outcomes for children. Early intervention with a medical diagnosis may provide a child with increased school and county services. Family, school, and professional understanding of a child’s diagnosis and limitations can help normalize behaviors and expectations and potentially limit a child’s feeling of “other” and difference from peers, leading to improved psychosocial and self-esteem outcomes. When evaluating a child for ID, the standard of practice includes obtaining broad genetic testing to evaluate for possible genetic causes, in addition to thorough past medical, family, and social histories and detailed physical exam. This is true even for children who have experienced orphanage or foster care. Using this approach, healthcare professionals can identify potential diagnoses and provide more targeted resources to families.

Cri-du-chat syndrome is a congenital syndrome associated with deletion of part of the short arm of chromosome 5 [ 10 – 12 ]. Deletions can vary in size from extremely small to the entire short arm. Most cases arise from de novo mutations, although approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. It is one of the most common genetic deletion syndromes, with an incidence of 1 in 20,000 to 1 in 50,000 live births. Cri-du-chat syndrome is characterized in young children by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low-set ears, hypotonia, and severe developmental delays [ 10 ]. The most characteristic feature is a high-pitched, cat-like cry that is considered diagnostic. However, individuals with a deletion confined to 5p15.3 on chromosome 5 have been found to display the cat-like cry without typical dysmorphic and severe developmental features of the syndrome [ 8 , 9 ]. In this case, the patient’s chromosomal microarray demonstrated a 6.8 Mb deletion at 5p15.31-5p15.33, consistent with this milder phenotype. Thus, the patient’s history of high-pitched cry, cardiac defect, ophthalmological issues, mild neurocognitive issues, and developmental delays were likely secondary to her chromosomal deletion, in addition to her history of institutionalization and the trauma of multiple transitions and neglect in early childhood.

Developmental disability can be due to a variety of factors. Thorough investigation of the underlying causes of intellectual disability includes a detailed medical and social history, physical exam, and use of genetic testing with chromosomal microarray and testing for Fragile X syndrome, the most common cause of inherited intellectual disability. This case highlights the importance of genetic testing in the evaluation of a patient with developmental disability, as well as the fact that even a child with a known history of causative factors for developmental delay will still benefit from comprehensive assessment including genetic testing. Practitioners should utilize genetic testing for patients with identified developmental and intellectual disabilities, even in adolescent and young adult patients for whom potential underlying causes have previously been identified. Results from genetic testing can help guide further evaluation, including imaging and laboratory studies, and management of associated symptoms. Intervention with a medical diagnosis can lead to increased access to county and social services, improved understanding of behaviors in the home and school setting, and better long-term psychosocial and self-esteem outcomes.

Acknowledgements

The authors would like to thank the patient and family for participating in this case presentation.

Abbreviations

Authors’ contributions

All authors contributed to patient care and decision-making. AL prepared the first manuscript draft and formatted the final manuscript draft for publication. LS and JE provided major contributions in preparing and editing the manuscript. All authors read and approved the final manuscript.

Availability of data and materials

Ethics approval and consent to participate.

This study was conducted in accordance with the principles of the Declaration of Helsinki.

Consent for publication

Written informed consent was obtained from the patient and her guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

Publisher's Note

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

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Article Contents

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

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

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

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

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

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

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

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

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

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

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

Identification of children with developmental disabilities

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

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

Inclusion of children with developmental disabilities in clinical trials

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Not required.

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

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• Neurodevelopmental Disorders
• Developmental Pediatrics
• Developmental Disorders
• Intellectual Disabilities

A case study of Chiunda an intellectually disabled child at Bauleni Community School

• January 2018

• Kwame Nkrumah University -Kabwe Zambia

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Case Study of a Child with Intellectual Disability

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In this intellectual disability case study, the author looks at designing an education curriculum for Meagan, a 14-year-old student.

Introduction

There are numerous interventions that have been designed to enable students with intellectual disability better cope with their condition. Most of these interventions have been hinged on the principle that respective educational programs should be tailored to complement the students’ strengths, and to supplement their weaknesses.

This is the same principle underlying the functioning of the K12 educational principle because it is centered on meeting individual student needs (K12 Inc. 2011, p. 1). The K12 educational paradigm mostly works through online communication but it has been seen to offer a lot of advantages to students with unique disabilities.

For instance, the educational methodology is known to provide rich, challenging and engaging content; an individualized learning plan; a learning coach; and cutting-edge technology in the provision of the best learning outcomes for intellectually disabled students (K12 Inc. 2011, p. 1).

When educating students with intellectual disabilities, it should be understood that, students are bound to have trouble in learning, retaining information and understanding information (Pearson Education Inc. 2011, p. 2).

Educators have often experienced such challenges, but comprehensively, there is a consensus among most stakeholders that it is vital to make accommodations for certain groups of students, and it is also crucial to make curriculum modifications for other students. In this regard, there seems to be a lack of consensus in coming up with one formula for handling students with intellectual disability.

This is the main framework for the advancement of this paper because this paper focuses on developing curriculum adjustments for a young man, Meagan. Meagan is 14 years old and has had a history of intellectual disability. This paper analyzes various dynamics of Meagan’s life, with the intention of making curriculum adjustments to provide an effective framework for learning.

To provide a good backdrop for the development of a good framework for learning, several aspects of Meagan’s life will be analyzed. These aspects include his family background, personal history, personal skills and personal abilities.

These factors will be analyzed systematically. Comprehensively, this analysis will be done with the aim of identifying one long-term aim or objective of the learning outcome and two short-term aims or objectives of the learning outcome.

Family Background

Meagan is the eldest child in a family of three children. His younger sibling is a girl, Sophia, aged nine years old. The youngest child is also a girl and she is three years old. Among his siblings, Meagan is deemed to be the child who has experienced most difficulty in learning. Meagan’s family hails from a middle-class society in Melbourne, Australia. His father works as a retired engineer in a local factory.

The mother works as a librarian in a local university. There has been no vivid or confirmed reports of intellectual disability among any of Meagan’s family members, though there have been unconfirmed reports of mental illness among some of Meagan’s relatives hailing from his father’s side of the family.

His aunt is said to experience occasional episodes of mental instability. However, there have been no confirmed reports of mental illnesses or cognitive disability from any of the family members of Megan’s mother.

Megan’s family professes the Christian faith, though they are not committed in their religion. However, Christianity has had an influence on Meagan’s life because he strongly identifies with his Christian faith. In the past couple of months, Meagan was baptized and currently devotes most of his time to his religious duties. None of Meagan’s family members pay much attention to religion.

His family also hails from a background of child neglect, with many of Meagan’s relatives having been abandoned by their parents at an early age. Meagan’s parents are no exception. The degree of attention they give Meagan is inadequate because little attention is paid to Meagan’s slow intellectual development. This has been going on since his parents confirmed that he was suffering from intellectual disability.

There is also an almost non-existent family support structure for Meagan to cope with his condition. Moreover, there is very little evidence of family cohesion among Megan’s family members, starting from his parents to his siblings. In this regard, Meagan is left to live with his condition, alone.

Personal History

Meagan hails from the aboriginal community of Australia. He was prematurely born because he was birthed at only seven months into his mother’s pregnancy. During his infant life, Meagan was abandoned by his mother, even before he was completely weaned from her. This forced his father to look for a baby sitter.

Nonetheless, despite these challenges, Meagan lived to have a vibrant childhood, with no signs of failing to cope with his playmates or friends. To a large extent, Meagan has been deemed a “normal” child. In his teen years, he used to participate in church activities (for the young) and also took part in school activities including extracurricular games.

He was a vibrant member of the school choir and an active member of the school soccer club. However, Meagan’s repeated the seventh grade level (twice) because he failed to meet the minimum threshold for admission into the eighth grade.

For a long time, he experienced a lot of difficulty trying to meet the minimum threshold for admission into sequential class grades because he always trailed among the last five candidates in any class. This was witnessed from his admission into the first grade.

However, Meagan’s academic background was characterized by exemplary performance in various academic writing competitions. His teachers termed him as a very creative writer and he never disappointed in his English creative writing assignments.

However, this was as far as his academic excellence stretched. Currently, Meagan undertakes blue collar jobs on minimum wage but there is increasing pressure among his peers for him to continue with his studies.

Personal Skills and Abilities

Meagan has a creative mind. He has shown interest in creative writing from his younger years but as he grew older, his interest changed. However, as explained in earlier sections of this study, in his young years, Meagan used to write exemplary creative works. His interest however shifted into music when he grew a little older.

So far, he has been able to record music in a local music company but his talents have never been fully exploited because of the lack of adequate finances to bankroll his musical ambitions. Moreover, there has been limited support from most of his family members in his quest to pursue music. However, due to his strong religious background, Meagan hopes to produce music for his local church.

The main aim of undertaking a curriculum adjustment for Meagan is to enable him to earnest his abilities and use them to the optimum benefit of his talents.

To enable Meagan to be independent and able to communicate his needs in effective and acceptable ways.

To assist Meagan to excel in personal growth and compete with other students in varying levels of excellence.

Curriculum Adjustments

Making the best curriculum adjustments for Meagan entirely depends on the nature of his disability. From previous sections of this paper, we have affirmed that Meagan suffers from a slow comprehension of academic disciplines, but he has a stronger grasp on creative works.

Here, there are several curriculum adjustments that can be done to ensure Meagan lives to his full potential. In this regard, this paper proposes several curriculum adjustments, based on the K12 teaching model which aims to provide individualized learning for students with intellectual disability. They are outlined below:

Interest and Student Ability

To ensure Meagan lives to his full potential, it is crucial to make curriculum adjustments to suit individual needs, abilities and preferences. A uniform curriculum which is meant to work for the majority student population is bound to fail for Meagan because it will not be specific to Meagan’s abilities and potential.

In this regard, it is therefore crucial for the curriculum to be designed to emphasize on creative works, as opposed to academic excellence, to enable Meagan to succeed in arts (Queensland Government 2011). Emphasis should be further made to ensure the school grading criteria focuses the same level of attention it gives to sciences (and other disciplines) as it does with art subjects.

Such a grading criterion would ensure students are assessed on all fronts, and not just academic. When adjusting the learning curriculum, it is also crucial for teachers to structure the curriculum in a manner that guarantees the grouping of students into different ability groups.

Not all students have the same type of abilities and therefore, it would be beneficial for teachers to group Meagan into the “creative works” group, so that he can share his creative ideas with his peers (Foreman 2009, p. 170).

Adjusting the Learning Outcomes

Adjusting the learning outcomes is an important adjustment to the learning curriculum if the school grading process is to be fair. Here, “fair” means to accommodate intellectually disabled students (Snowman 2011).

Accommodation of Diverse learning Styles

Intellectually disabled students are normally faced with the challenge of failing to comprehend learning instructions as fast as other students do. However, research studies affirm that some of these students prefer certain learning styles in place of others (Queensland Government 2011). Moreover, educationists have shown that certain learning styles are more effective for intellectually disabled students, while others are not.

Such dynamics withstanding, it is crucial to make curriculum adjustments that allow for the accommodation of diverse learning styles for improved efficacy in learning. For instance, conventional or online lessons can be administered using various learning materials such as DVDs, CDs, Books, videos and such materials (Browder 2011, p. 332).

The inclusion of such diverse strategies is set to improve the level of interaction between the students and the teachers because an appropriate learning style would motivate the students to pay more interest in the learning process. This improves the students’ level of engagement. Moreover, such curriculum changes ensure the learning process is rich in its contents.

Integrating a Learning Coach (Parent Involvement)

It is crucial to integrate the input of a learning coach into the school curriculum to encourage the participation of Meagan’s parents in his educational endeavors. The parents will be the learning support team.

Already, we have established that Meagan hails from a family that pays little attention to his educational needs. Here, there is a strong need to integrate the parents’ input into Meagan’s educational projects to ensure he enjoys a support structure, aside from the traditional teacher-student framework.

Though an integration of the role of the learning coach into the school curriculum may not necessarily be confined in the parent-student framework, it is crucial for this integration to be developed in this framework, if Meagan has to develop better learning skills (National Parent Teacher Association 2009, p. 1 ) .

This is because a great degree of the deterioration of his intellectual ability comes from a lack of effective support structure that enables him to improve his learning skills (Queensland Government 2011).

For long, this need has been ignored, and as a result, Meagan has continually performed poorly in his academic endeavors. Nonetheless, the learning coach framework can be designed in various ways. For instance, the school curriculum can be designed to include the participation of parents in the student’s projects, at least once or twice a semester.

Parents may be required to give consent, provide counsel or similar activities on the student’s tasks, thereby encouraging him to better develop with his learning activities. The inclusion of this principle into the school curriculum may be indirectly beneficial to Meagan because it is bound to have a motivating effect on him. This is the first strategy that can be adopted in encouraging parent participation.

The second strategy that can be adopted by the school is implementing a family-school partnership policy where parents and teachers agree on a common framework where parental involvement is assessed, and the parents’ progress is measured (Westwood 2011, p. 15).

This recommendation emanates from research studies which have shown that schools which have an efficient family-school partnership perform better than schools which lack this policy (Queensland Government 2011).

Finally, the school should make adjustments to the curriculum to ensure that parents take part in the decision making process of activities affecting student achievement. Here, parents should be allowed to be part of advisory committees which affect student achievement.

This paper proposes that, adjustments in the school curriculum which have to be made to accommodate Meagan’s skills and abilities have to be done within the confines of earnesting his skills and abilities (to use them for the benefit of his personal growth). In this regard, this paper proposes that the school curriculum should be tailored to accommodate Meagan’s artistic skills.

Moreover, the learning outcome should be adjusted to accommodate the same skills and abilities. From a holistic perspective, this paper also proposes that diverse learning styles should be accommodated into the learning curriculum to ensure students with intellectual disability learn in an efficient way.

These recommendations are carved from the K12program. Nonetheless, this paper also puts a lot of emphasis on the importance of incorporating parent input in the school curriculum. Integrating these principles will go a long way in enabling Meagan to earnest his strengths and use them to the optimum benefit of his talents.

Browder, D. (2011) Teaching Students with Moderate and Severe Disabilities . New York, Guilford Press.

Foreman, P. (2009) Education of Students with an Intellectual Disability: Research and Practice (PB). New York, IAP.

K12 Inc. (2011) How a K12 Education Works . Web.

National Parent Teacher Association. (2009 ) Enhancing Parent Involvement. Web.

Pearson Education Inc. (2011) Teaching Students with Special Needs . Web.

Queensland Government. (2011) Intellectual Impairment – Educational Adjustments. Web.

Snowman, J. (2011) Psychology Applied to Teaching . London, Cengage Learning.

Westwood, P. (2011) Commonsense Methods for Children with Special Educational Needs . London, Taylor & Francis.

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IvyPanda. (2019, May 11). Case Study of a Child with Intellectual Disability. https://ivypanda.com/essays/case-study-of-a-student-with-intellectual-disabilities-essay/

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From Survival to Growth - The Coping Experience of Mothers of Children with Disabilities During a Global Crisis: The Case of COVID-19

• Original Article
• Published: 30 July 2024

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• Yael Hochman   ORCID: orcid.org/0000-0003-1352-8069 1 ,
• Shirli Werner   ORCID: orcid.org/0000-0002-5432-7223 2 &
• Carmit-Noa Shpigelman   ORCID: orcid.org/0000-0002-4163-7329 3  

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This study explored the coping experiences of mothers of children with disabilities during the COVID-19 pandemic in Israel. Semi-structured in-depth interviews were conducted with 14 mothers. The data were thematically analyzed to gain in-depth understanding of their coping experiences. The findings indicated that COVID-related restrictions disrupted the family routine and added a significant burden for the mothers as primary caregivers, and for the family system as a whole. Three distinct types of coping experiences arose from the analysis: surviving the crisis, controlling the crisis, and growing out of the crisis. Three key elements differentiated these three types: the perceptions of the meaning of the pandemic for parental roles and of the response of the education and welfare systems to the children’s needs – in routine and during COVID-19; coping with the different pandemic challenges; and the implications of both COVID-19 and the mothers’ coping strategies for the functional and emotional status of their children, themselves, and family relations. The results are discussed in light of models of family stress and coping, focusing on the tension between the mothers’ caregiving role and maternal roles as warranting particular attention by professionals and policymakers.

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Hochman, Y., Werner, S. & Shpigelman, CN. From Survival to Growth - The Coping Experience of Mothers of Children with Disabilities During a Global Crisis: The Case of COVID-19. J Autism Dev Disord (2024). https://doi.org/10.1007/s10803-024-06492-2

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Growing Health Management: Evaluating the Influence of an OT Training for Staff at a Residential Home Serving Adults With Intellectual & Developmental Disabilities: A Pilot Study

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Margaret M. Grill , Nicholas Brown , Tracy Choy , Kate Frankiewicz , Sofia Zarnowiecki; Growing Health Management: Evaluating the Influence of an OT Training for Staff at a Residential Home Serving Adults With Intellectual & Developmental Disabilities: A Pilot Study. Am J Occup Ther August 2024, Vol. 78(Supplement_2), 7811500257p1. doi: https://doi.org/10.5014/ajot.2024.78S2-PO257

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Date Presented 03/21/24

This research finding indicates the necessity to provide OT health management intervention trainings specific to the growing number of aging adults with intellectual and developmental disabilities (IDD) to promote improved quality of life, well-being, and subsequent reduced medical costs.

Primary Author and Speaker: Margaret M. Grill

Contributing Authors: Nicholas Brown, Tracy Choy, Kate Frankiewicz, Sofia Zarnowiecki

The purpose of this project was to determine how implementation of a six-session health management OT intervention training program for staff serving aging adults with intellectual and developmental disabilities (I/DD) would improve staff’s knowledge and comprehension of autonomous health management occupations and impact on resident’s quality of life. This research sought to support the advancement of the occupation, health management, as it relates to community practice. Additionally, this study sought to address gaps in literature relative to aging adults with intellectual and developmental disabilities (I/DD) and improved health initiative outcomes. This mixed methods study recruited staff serving aging adults with identified moderate intellectual and/or developmental disabilities(I/DD), ranging in age from twenty-three to sixty-four years residing in a residential community group home affiliated with a faith-based organization. A Qualtrics software survey, consisting of demographic, multiple choice, open-ended, and Likert scale questions, was administered to employed staff who were recruited through convenience sampling. A pretest questionnaire was administered to staff prior to the beginning of the training and a post-test was re-administered after the training. Questionnaire results intended to assess the impact of sessions on the staff’s gained knowledge of health management strategies and promotion. Four staff participants reported increased confidence levels in educating, supporting, leading, and creating health management practices. Pre-survey to post survey adequate knowledge of health management increased between 34% and 67% and adequate knowledge to educate increased between 34% to 67%. Thematic analysis of data: Improved Understanding of Health Management, Satisfaction with Trainings, Improved Incorporation Health Management in Daily Routines. Future research is needed to investigate the efficacy of staff health management OT training.

Anderson, J., & Wickham, S. (2022). Perspectives on delivering health promotion for the intellectual disability population. British Journal of Nursing, 31 (12), 640–646. https://doi.org/10.12968/bjon.2022.31.12.640

Heller, T., & Sorensen, A. (2013). Promoting healthy aging in adults with developmental disabilities. Developmental Disabilities Research Reviews, 18 (1), 22–30. https://doi.org/10.1002/ddrr.1125

Kuijken, N. M. J., Anrooij, K. V., Valk, H. M. J. van S. L., Leusink, G., Naaldenberg, J., & Sanden, M. W. N. der. (2019). Stakeholder expectations, roles and responsibilities in Dutch health promotion for people with intellectual disabilities. Health Promotion International, 34 (5), e59–e70. https://doi.org/10.1093/heapro/day059

Thomson, A., Bridges, S., Corrins, B., Pham, J., White, C., & Buchanan, A. (2020). The impact of physical activity and sport programs on community participation for people with intellectual disability: A systematic review. Journal of Intellectual & Developmental Disability, 46 (3), 261–271. https://doi.org/10.3109/13668250.2020.1717070

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Dr. cunningham secures grants for research in maternal health.

Grant Awarded for National Assessment of Parent Training for Women with Intellectual and Developmental Disabilities

Dr. Shayna Cunningham, Assistant Professor in Public Health Sciences (Co-PI), Dr. Mary Beth Bruder, Professor in Child and Family Studies and Director of the UConn University of Connecticut Center for Excellence in Developmental Disabilities Education, Research, and Service (UCEDD) (PI) and Dr. Brian Reichow, Associate Professor in Child and Family Studies (Co-I) have been newly awarded a one year grant from the Caplan Foundation for Early Childhood titled “National Assessment of Parent Training and Support for Women with Intellectual and Developmental Disabilities” for $57,500.

Goal(s) and Objectives of the Project: Diagnosis of intellectual and developmental disabilities (IDD) does not inevitably cause parenting difficulties and by itself is a poor indicator of parental capacity to provide adequate care to their children. All parents require supports to learn about their children’s needs and development, as well as their own needs as parents. Interventions designed for parents with IDD have proven effective at improving parenting skills and competencies with corresponding benefits for their children, but little is known about how these are being implemented in the United States (US). This project will use community-based participatory research and mixed methods approaches to reduce critical knowledge gaps regarding the provision of training and support to parents with IDD. The specific aims are to: 1) conduct a national scan and content analysis of all programs and curriculums offered through each state and territory’s developmental disabilities agencies, child welfare agencies, developmental disabilities networks, including an assessment of disparities in identification, enrollment, and retention of parents with IDD, and outcomes across multilevel domains (e.g., parent demographics, disability level, implementing agency sector, size, geography) and 2) examine perceptions of professionals who provide training and support to parents with IDD about implementation challenges and recommendations for improvement, and perceptions of mothers with IDD about their needs and satisfaction with services they have received.

New Grant to Enhance Breastfeeding Pain Self-Management with WIC Partnership

Dr. Shayna Cunningham, Assistant Professor in Public Health Sciences (Co-I) and Dr. Ruth Lucas, Associate Professor in the School of Nursing at the University of Connecticut (PI) have been newly awarded a one-year grant from the University of Connecticut Institute for Collaboration on Health, Intervention, and Policy (InCHIP) titled “WIC Partnership to Revise and Expand Pain Self-Management Intervention with Breastfeeding Women” for $9,918.92.

Goal(s) and Objectives of the Project:  The aim for this project is to partner with Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) to establish a Steering Committee, made up of WIC staff, women served by WIC, and community partners who serve women whose income is below the poverty level, to guide the design and protocols for community-based focus groups. The focus groups will review the Breastfeeding Self-Management (BSM) intervention modules and revise and expand the modules through a culturally relevant lens. The final modules will be reviewed by the Steering Committee in preparation of an R01 Promoting Self-Management of Breast and Nipple Pain Using Technology in Breastfeeding Women (PROMPT) implementation grant.

Developing Trauma-Informed Care Curriculum for Perinatal Care Trainees at UConn Health

Dr. Shayna Cunningham, Assistant Professor in Public Health Sciences (co-I), Dr. Kristen Lee Moriarty (Project Leader), Dr. Kelsey Lynn Manfredi (Resident Team Member & Project Co-Lead), Dr. Alexandre West (Team Member) and Dr. Andrea Shields, Associate Professor in Obstetrics and Gynecology (Faculty Mentor, Lead Principal Investigator) have been newly awarded a two year Teaching Pregnancy Trauma to Trainees grant titled “Bringing Residents, Fellows and Nurses Back to the Bedside to Support a Mother’s Road to Recovery: Interdisciplinary Trauma-Informed Care Curriculum for Perinatal Care” for $15,000.

Goal(s) and Objectives of the Project: One third of women experience some form of trauma during their pregnancy and rates are increasing despite literature elucidating its detrimental impact on patient outcomes. Trainees in OB/GYN and Labor and Delivery, including residents, fellows, and nurses, not only struggle with recognition of pregnancy-related trauma, but after the COVID-19 pandemic, have experienced a higher level of burnout impacting the physician-patient relationship. Our goal is to improve recognition and management of pregnancy-related trauma while embodying a culture of mindfulness amongst OB/GYN residents, fellows, and nurse trainees. The specific aims of the project are to: 1) identify risk factors for pregnancy-related trauma using a mixed-methods approach; 2) develop a one-day trauma-informed curriculum for residents, fellows, and nurse trainees that will improve bedside recognition of pregnancy related trauma; and  3) determine acceptability and feasibility of the new trauma-informed care curriculum to improve standardized processes for management of birth trauma at UConn Health.

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Students take summer learning to the next level with Studio930 consultancy

Carlos Ortiz/RIT

RIT students Micheala Stout, left, and Katherine Berry assemble their Bubble Machine ahead of the Studio930 RIT Design Consultancy showcase on July 25. The students designed the prototype for children with developmental disabilities at Mary Cariola Center.

RIT student Micheala Stout is fulfilling her first co-op experience this summer by developing an interactive toy that fine tunes the motor skills of children with developmental disabilities. The fourth-year print and graphic media technology major joined an interdisciplinary cohort of 20 other university students to participate in the Studio930 RIT Design Consultancy , a program offered through the Simone Center for Innovation and Entrepreneurship , now in its 10th year.

The goal of Studio930 is the development of design solutions that address emerging issues facing providers of healthcare and services for individuals with special needs. Students from RIT colleges including College of Engineering Technology , Kate Gleason College of Engineering , Saunders College of Business , School of Individualized Study , College of Art and Design , and Golisano College of Computing and Information Sciences , guided by a team of highly experienced mentors including Studio930 Director and Visiting Lecturer Mariana Pinheiro , collaborated with users to make a positive impact in the community. This year, 12 projects were showcased.

When children at Mary Cariola Center in Rochester hold onto Stout’s Bubble Machine and step onto the attached platform, stimulating bubbles pour out. With the help of physical and occupational therapists, the youngsters use the machine to exercise bilateral movements and recognize their dominant hand, without aggravating noise and light sensitivities. Staff at Mary Cariola provided general guidelines for the project, but otherwise let the students’ design and creativity run wild.

Kayla Barrett, pictured, and her teammate Bayleigh Thurston designed the “office of the future” for their client, Rochester Regional Health. The students used the SHED’s facilities to 3D print components of the prototype.

“Studio930 gave me great insights into what it’s like to work in industry,” said Stout, from Memphis, Tenn. “I learned how to develop my skill sets, and learn new ones, work within a budget, and pivot based on the input from clients. This has been an invaluable experience.”

Stout worked alongside Daniele Loomis Rostan, an occupational therapist and certified autism specialist at Mary Cariola Center.

“The students we teach at Mary Cariola Center often have multiple and complex challenges. It is incredibly thrilling to work with a diverse group of RIT students who are eager to take on an unusual assignment and are not intimidated when confronted with these challenges,” said Loomis Rostan. “Traditional, store-bought items may not meet their unique needs or be usable by our students given their motor or cognitive skills. By collaborating with RIT students, we can work together to design and develop products that are tailored to the needs of our students. Products that are engaging, fun, and accessible. Innovations that let our kids be just that – kids.”

Dan Phillips , associate professor of electrical and microelectronic engineering , and a strong advocate of Effective Access Technology initiatives at RIT, was impressed with how well the students worked together and their strong grasp of the design process.

“From the first day of the consultancy, the students weren’t afraid to get their hands dirty,” said Phillips. “They were focused and didn’t hesitate to reach out to their clients. And they all understood the assignment – use this consultancy as a resource to help the community.”

Kayla Barrett, a biomedical engineering BS/ industrial and systems engineering MS student, and Bayleigh Thurston, an industrial design MFA student, used the facilities in the SHED to build their prototype for an “office of the future” for Rochester Regional Health . The team was tasked with optimizing the space for patients and providers ahead of renovations.

“Using the SHED makerspaces was instrumental to the success of our project,” said Barrett, a Nashville, Tenn., native. “We 3D printed the components of our prototype, including little MRI machines, and laser cut others. Our design is an idealized version of what’s possible, and it can really be implemented in any setting.”

Twenty-one students from across RIT colleges participated in this summer’s Studio930 RIT Design Consultancy. Twelve projects were unveiled that presented design solutions to the emerging issues in the field of assistive and health technology.

Thurston, from Rochester, capitalized on the interdisciplinary nature of the consultancy and the opportunities to interact with and learn from students in other colleges. She talked through problems and leveraged their various skills and experiences.

One longstanding Studio930 client is the Al Sigl Community of Agencies.

“I am always so impressed with the student teams. Several of our programs would love to continue testing their project designs,” said Peggy Fortune, Al Sigl’s marketing director. “It’s wonderful to share these concepts and have the PTs, OTs, and other program staff help refine the designs based on real-world use. It’s also wonderful to look back at how much the designers have learned about the individuals served by our member agencies through their research over the last 10 weeks, as well as the importance of removing barriers for people of all abilities to be more fully included in the community.”

Stout’s teammate Katherine Berry, a fourth-year biomedical engineering major from Erie, Pa., most enjoyed working with a team to overcome obstacles and find the best solutions.

“I’ve learned that designing complex mechanisms and working hard to meet the needs of clients isn’t a linear path,” she said. “I hope that with small tweaks and prototype testing we will be able to provide proof of concept and place our project into the hands of the kids at Mary Cariola.”

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