Learning disability and autism

Children are said to have a learning disability when they experience significantly greater difficulty than their peers in making progress with intellectual developmental skills. Intellect overlaps with all other developmental areas, so severe learning difficulty is normally part of a pattern of global developmental delay linked with problems of mobility, communication and self-care skills.

There can be many reasons why a child may have learning difficulties. There may be a clear pathological cause such as Down’s syndrome or brain injury. Learning difficulties may arise as a result of neglect in early life. In many cases there is no clear genetic, neuroanatomical, metabolic or environmental cause that can be identified. This is an evolving area of medicine and ongoing advances in genetics and brain imaging science help understand a greater proportion of these problems.

Learning disability is termed mild, moderate, severe or profound according to the intellectual limitation and degree of independent self-care. Children and adults with profound learning disability are totally dependent on their carers for all activities of daily living including self-care and feeding, and usually have very limited communication. Those with severe learning difficulties may learn limited self-care and simple communication skills, but will not be able to live independently. Those with mild or moderate learning disability may live independently with support.

Paediatric Management

The role of the paediatrician is to assess patterns of early development that may indicate a significant future developmental problem, to diagnose the underlying cause through examination and investigation, communicate openly with the family to ensure there is understanding of the problems and the likely future implications, to manage medical problems and to coordinate multidisciplinary developmental therapy and multiagency liaison for the child.

Growing Up with Learning Disability

The diagnosis of severe learning disability is devastating and families require particularly sensitive support at diagnosis and beyond. Each stage of childhood brings its own issues from starting school to adulthood. Adolescence is usually a particularly difficult time when issues related to independent living, friendships and sexuality, vocational training and care into later adult years may arise. Transition away from the well-known childrens’ services to adult services also presents difficulties and needs planning with social care staff.

It is important to begin therapeutic input early to stimulate cognitive, language and motor development. Therapists from the Child Development Team provide advice on play activities to stimulate development and maximize function. Parents learn about methods of communication with speech therapy and alternative communication systems such as Makaton signing or visual language cards if necessary. Attendance at specialist preschool nursery can be enjoyable and promote social learning for the child. This also gives parents contact with other families.

Many children with learning disabilities are included in mainstream nursery and primary school, with appropriate help provided. Others, particularly if they have additional disabilities, may be better placed in a specialist school. Depending on the degree of disability, a Statement of Special Educational Needs may be needed (see Chapter 62). Education goals must be realistic, and should include skills such as personal care, development of social behaviour, and independence. On leaving school, facilities should be available for the young adult which may include specialist accommodation and further vocational education placement.

Behavioural problems occur with greater frequency in children with developmental disabilities. This may include attention difficulties, hyperactivity (see Chapter 12), stereotypic or self-injury behaviour. Psychological help is often needed to understand difficult behaviours and advise on strategies for management. Medical problems such as eyesight, hearing, gastrointestinal symptoms, nutrition issues, seizures and acute illness need active management.

It is difficult for health staff to assess children with learning disability when acute illness occurs. A problem such as acute appendicitis can be very difficult to detect in a patient with no speech communication and limited understanding. Health staff need training in the specialist needs of people with learning disability to provide good care.

Down’s Syndrome (Trisomy 21)

Down’s syndrome is an example of a condition which causes significant learning disability with implications for long-term independent living. Down’s syndrome is the commonest genetic anomaly causing learning disability. The extra chromosome is usually maternal, and the incidence of Down’s syndrome increases with maternal age (1% at age 40 years).


Features include facial features of upward sloping palpebral fissures, folds of skin over the epicanthus of the eyes, a protruding tongue, flat occiput, single palmar creases, and mild to moderate developmental delay. Associated medical problems include gastrointestinal problems (most commonly duodenal atresia), 40–50% have cardiac anomalies (most commonly atrioventricular canal defects), otitis media, squint, hypothyroidism, atlanto-axial vertebral instability and leukaemia.

Fragile X

Fragile X is an important genetic cause of learning disabilities among boys. The diagnosis should be sought in any boy who has unexplained moderate or severe learning disability. Some girls carrying the chromosome have mild learning disabilities.

Autistic Spectrum Disorders

Autism is a developmental disorder with abnormal behaviours in three key elements:

  • Poor verbal and non-verbal communication (often reduced eye contact)
  • Obsessive intense repetitive interests
  • Reduced imaginative play.

Autism is sometimes described as a ‘mind-blindness’—an inability to relate to others, to understand that someone else might view something in a different way. There is evidence of genetic factors in a number of children with autism.

There is a broad spectrum of severity of autism. In severe autism language development is profoundly impaired and behaviours are often extremely difficult to manage. There are a number of children with some, but not all, features of the autistic spectrum. An example is Asperger’s syndrome in which language development is usually good but social empathy is poor, leading to problems with peer relationships and school progress.

Specialist education support is required and the family need support to manage difficult behaviours and communication at home and school.


  • Where possible, the underlying condition should be diagnosed.
  • The child’s developmental progress should be monitored.
  • Appropriate input should be provided in the preschool years and appropriate school placement made.
  • The child and parents need a supportive framework.
  • Transition to adult services needs careful planning.
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Jul 2, 2016 | Posted by in PEDIATRICS | Comments Off on Learning disability and autism
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