Fragile X syndrome

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Fragile X syndrome is a genetic condition caused by an altered X chromosome. It is the most common cause of inherited intellectual disability.

Both girls and boys can be affected by Fragile X. Most boys with this condition have an intellectual disability, sometimes severe. In the early years this would be noticed as developmental delay. In girls the condition generally takes a more subtle form (such as a learning disability rather than intellectual impairment).

Children with the condition have trouble communicating – they may stutter, repeat words or not understand what someone has said. But children with Fragile X also have a good visual memory, which helps them recognise words and compensate their other language difficulties.

The condition poses behavioural, social and emotional challenges. Fragile X is often associated with other conditions such as autism and attention deficit hyperactivity disorder (ADHD). Children with Fragile X may feel anxious in new situations. They sometimes dislike loud noises, being touched or making eye contact. But they also often have a strong sense of humour and enjoy having fun, which helps overcome social anxieties.

Early intervention can help to minimise behavioural and learning difficulties.

The following professionals can help: paediatrician, genetic counsellor, occupational therapist, psychologist, specialist teacher, speech pathologist.

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