Specific syndromes

• Specific Syndromes
• Other Syndromes

Specific Syndromes

Down’s syndrome

This is the commonest specific cause of learning disability, occurs in 700 -1000 live births in the UK and is caused by a chromosome abnormality. Some degree of learning disability is always present.

It is often recognised at birth due to characteristic physical features e.g. the face has a flat nasal bridge, eyes that slant upwards and outwards and a vertical fold of skin either side of the nose (epicanthic fold). As children grow they are often short, with broad hands with a characteristic hand crease.

Individuals with Down’s syndrome commonly have other physical health problems. Up to 50% have heart problems needing surgical correction, and hearing, speech and language and visual problems are common. Most bodily systems can be affected, but with advances in medical treatment most affected people have near normal life expectancy. They do not have a higher rate of autism.

Hypotonia (reduced muscle tone or floppiness) is often the first characteristic of Down syndrome that is noticed after birth.

Sucking problems secondary to hypotonia may make breast feeding initially difficult, particularly in the premature infant. When this occurs the mother can feed the infant expressed milk by other means, such as a nursing supplementer or a bottle, or, occasionally, by gavage (forced feeding, especially through a tube passed into the stomach). After several weeks, the infant's sucking ability often improves, and the infant becomes capable of feeding effectively. A nursing supplementer may be used to encourage the infant who has a weak suck.

Many infants with Down syndrome tend to be "sleepy babies" in the early weeks. Consequently, feeding only on demand may not be adequate for the nutritional needs of the infant and stimulation of the mother's milk supply. In this situation, the infant should be awakened to feed regularly and the mother may need to pump her breasts to stimulate the production of an adequate supply of milk.

Advice and support may be provided to nursing mothers by Occupational therapists, speech therapists, lactation consultants and breast-feeding support groups.

The development of children with Down’s syndrome is similar to other children with a similar extent of disability. Their functioning will depend on the level of disability and the extent to which they have to cope with co-existing problems e.g. illnesses, sensory impairment. They learn basic self-care and life skills, albeit more slowly, and can achieve partial independence thus some needs decrease during childhood, but those remaining at adolescence often persist.

Fragile X syndrome

Fragile X syndrome is the second most common genetic condition associated with learning disability after Down’s syndrome.

Approximately 1 in 3500 – 8900 males and 1 in 4000 females have the full mutation. Males with Fragile X syndrome tend to be more severely affected and generally have moderate to severe learning disability, while females will generally have an IQ that falls within the normal to mild learning disability range.

Fragile X syndrome is associated with a typical appearance that includes an elongated face, long and prominent ears, a large head circumference and enlarged testicles. It is also associated with physical problems such as mitral valve prolapse, joint laxity, spinal scoliosis and flat feet.

Features of Fragile X syndrome include abnormalities of speech and language, problems with attention and concentration, difficulty adjusting to change (particularly environmental change), sensory sensitivities and mood instability.

Boys tend to have more behavioural problems than girls and tend to be shy and socially withdrawn. Approximately 1/3 of adolescent males with Fragile X syndrome may show angry and aggressive behaviour. Girls often suffer from anxiety and depression.

Care and mobility needs vary according to the severity of the condition and the associated learning disability.

Autistic Spectrum Disorder

It is common to have a dual diagnosis of learning disability and autistic spectrum disorder. For further information on autistic spectrum disorder please refer to separate guidance.

Other Syndromes

With the exception of cerebral palsy (see separate guidance) the following syndromes are uncommon but may be associated with learning disability. For further information about specific syndromes associated with learning disability please obtain advice from Medical Services. Also please note that this list is not exhaustive.

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