Developmental disability

3.8 Developmental disability



Michael O’Callaghan



Definition


Disability describes lack of skill in important areas of development that affect age-appropriate functions and participation of the child in the activities of daily life. The World Health Organization International Classification of Function (ICF) for disability and health describes not only how a condition affects body structures and function but also its influence on how a person may perform their personal, family and social roles, together with personal and environmental factors that affect this. Legislative frameworks, recognition of rights, opportunities for education and work, access and community attitudes all influence participation and ultimate quality of life. The biopsychosocial approach, with emphasis on the child as a person and on their overall function and wellbeing, together with a strong developmental and family perspective, provides a necessary framework for care of children with developmental disability.


A developmental disability may arise from genetic causes, during pregnancy, perinatally, or during childhood. Approximately 3–5% of children have a moderate to severe disability and up to 20% have a mild disability. Many of these disorders are more common in males. The disability may affect movement, cognitive, speech and sensory functions or behaviour, and it may vary in severity. A child may have multiple disabilities.


Commonly included low and higher prevalence disorders are shown in Box 3.8.1; because they affect brain function, they are also called neurodevelopmental disorders. Although the lower prevalence disorders are usually more severe, all of these conditions may have a substantial effect on the quality of life for the child and family. A number of low-prevalence severe disabilities affecting the brain, including hearing and visual impairment, cerebral palsy, spina bifida and autism, are covered in other sections of this book. The focus of this section includes general issues of management for all children with a developmental disability; the child with intellectual impairment and selected syndromes associated with this; and children with high prevalence but less severe disorders occurring singly or in combination.



Box 3.8.1 Developmental disabilities



Low prevalence




• Cerebral palsy


• Moderate–severe intellectual impairment


• Autism


• Spina bifida


• Severe sensory impairment



Higher prevalence




• Developmental delay


• Mild intellectual impairment


• Speech and language


• Developmental coordination disorder


• Learning difficulty


• Attention-deficit/hyperactivity disorder


• Mild autistic spectrum disorder



General issues of management


Developmental disabilities are chronic disorders, and this perspective is also required for management, in addition to the interventions that are specific for individual disorders. Four important general aspects of management are:



• Family-centred care. This includes an ongoing partnership with families, advocacy, the provision of information regarding the disorder, support groups, access to treatment and respite services, and to sources of financial support. When initially discussing the diagnosis with families, the consultation should include the presence, if possible, of both parents, sufficient uninterrupted time, a realistic and balanced acknowledgement of potential problems and strengths, and the opportunity for follow-up discussion. Long-term care of the person with severe developmental disability is likely to be stressful to parents, siblings and marriages, with major transitions such as commencing or finishing school and adolescence and transition to adult services often being challenging periods.


• An individual child. The focus is not only on the management of the medical disorder or disability but also the child’s longer-term growth, health, development, emotional wellbeing, independence and adult function. Associated behavioural difficulties may be of equal or greater concern to the family than medical aspects of the disability, and also influence successful function in the school and community.


• Prevention. Knowledge of the genetic implications, natural history of a disorder, and common management issues may allow prevention of some problems and early identification of others (see, for example, Table 3.8.2).


• A team and a plan. As interventions are frequently multidisciplinary and may involve more than one professional or service, they should be coordinated, have an outcome focus and should involve families in considering realistic short- and long-term goals. Interventions should begin early and be focused on the needs of the child and family with programmes that occur, where possible, in the child’s own home or community.


The medical role in the management of a developmental disability includes initial diagnosis, advocacy, accessing services, and meeting normal and specialist health and developmental needs of the child. Trials of medication to modify genetic expression are occurring in a number of syndromes, including fragile X, and specific therapeutic medical interventions may emerge in future. Management is facilitated by seeking to understand the ‘predicament’ of the child and family – how they may feel, think and experience the situation. There is a need also for an evidence-based approach in discussing traditional and alternative interventions. The role requires acceptance of cultural and ethnic differences, realistic hope, advocacy and helping families to maintain their overall wellbeing. The needs of a child and family, however, can be met only by a range of professionals.



imageClinical example


Angie was aged 6 years and had a mild intellectual impairment of unknown aetiology. Her behaviour had always been difficult and had recently become more difficult. She also had a diagnosis of attention-deficit/hyperactivity disorder in association with aggression that was only partially responsive to stimulant medication. Reviewing the situation using a biopsychosocial approach, her doctor realized that her behaviour had become worse when her father started working away from home, as a result of which Angie’s mother, who always assumed the majority of Angie’s care, had to cease her studies. Her mother described feeling socially isolated and depressed. Angie was in an integrated classroom with a modified programme, although she was acutely sensitive to her lack of academic success compared with her peers. Medication was still required and the dose adjusted, although this further understanding allowed additional interventions that markedly improved Angie’s aggressive outbursts and adjustment.



Intellectual impairment



Terminology


Medical terms such as mental retardation (Diagnostic and Statistical Manual of Mental Disorders, edition IV; DSM-IV), intellectual impairment and general learning difficulty are often used synonymously. Although these terms all focus on important deficits in the child, they may be offensive to families, and do not describe competencies of individual children.



Definition


Mental retardation, the term used in DSM-IV, is defined as significantly sub-average intellectual functioning accompanied by limited adaptive function, with onset before 18 years. Adaptive function describes activities of daily living and social competence. Tests of general intellectual function, such as the Stanford–Binet and Weschler Intelligence Scales, have a distribution that is approximately normal, with a mean intellectual quotient (IQ score) of 100 and a standard deviation of 15. The individual’s score is, however, an estimate, as performance is affected by a range of child, tester and environmental factors.


Mild intellectual impairment is diagnosed in children with an IQ score between 70 and 55–50 who also have impaired adaptive function. Although the normal curve distribution suggests that 2–3% of children will be in this category, studies generally report a lower prevalence and an association with social disadvantage or family history of similar difficulties. The children may present with speech or behavioural difficulty, or may be identified with developmental concerns in early childhood education centres or with learning difficulty in the early school years. Physical and neurological examinations are usually normal.


Moderate intellectual impairment is defined as an IQ of 35–50, with more severely or profoundly affected children having an IQ score below this. Only approximately 0.3% of children have an IQ score lower than 50. These children often have a dysmorphic appearance, a recognized syndrome or other known aetiology for their intellectual disability. Presentation may be by recognition at birth or with global developmental delay during early childhood. Inexperienced parents may present with concerns regarding specific speech and gross motor delays. More severely affected children may also have other physical and sensory disorders, with many having multiple disabilities.



Medical assessment


A standard medical and family history and physical and neurological examination are important, as is understanding the family’s concerns, their belief regarding this, and the outcome they hope for from the consultation. Development is assessed from maternal concerns, milestones, current abilities on history and testing as required. Milestones are helpful if delay or regression has occurred, whereas developmental testing also allows the opportunity to interact with the child and informally assess social engagement, attention and quality of performance. The aetiology is not always identified, especially for children with less severe disorders, but is more likely if there are:



• minor physical anomalies present (e.g. simian crease or low-set ears)


• disturbances of growth (e.g. microcephaly or macrocephaly, extremes of stature or weight)


• abnormal skin lesions (e.g. multiple depigmented or pigmented naevi)


• malformations or abnormal findings in several organ systems


• behaviour characteristics of specific disorders (i.e. behavioural phenotype)


• family history of a similar disorder.



imagePractical points



Examination of the child with suspected developmental disability



Informal observation




• Appearance


• Behaviour (eye contact, social engagement, attention, activity level and anxiety)


• Play (symbolic, imaginative or repetitive)


• Movement (skills, symmetry and quality)



Formal observation




• Developmental assessment (strengths and weaknesses)


• Minor physical anomalies


• Vision and hearing


• Physical and central nervous system examinations


• Growth (plot percentiles)

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Aug 4, 2016 | Posted by in PEDIATRICS | Comments Off on Developmental disability

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