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Fragile X syndrome

What are the symptoms?

Intellectual disability varies from mild to severe. Girls and women who have a fragile X chromosome are often of normal intelligence. However up to a third have learning problems which are usually mild or moderate but can occasionally be severe.

Other problems experienced by affected individuals include delayed and distorted speech and language development. There can be difficulties with the social use of language, with continuing speech anomalies, repetitive behaviour, attention deficits and overactivity, and autistic-like features, such as poor eye contact, hand flapping, social anxiety, abnormal shyness and an insistence on routine.

Physical features ascribed to fragile X syndrome include a relatively large head, a long face with prominent ears, largish jaw and double-jointedness. However these are rarely obvious in affected individuals. Ten to thirty per cent of people with fragile X syndrome develop epilepsy.

View Background Background  |  Psychological and behavioural characteristics View Psychological and behavioural characteristics

Medical text and Psychological and behavioural characteristics text written June 1997 by Dr A Barnicoat, Consultant in Clinical Genetics, Institute of Child Health, London, UK and Professor J Turk. Last updated December 2005 by Professor J Turk, Professor of Developmental Psychiatry and Consultant Child & Adolescent Psychiatrist, Department of Clinical Developmental Sciences, St. George's Hospital Medical School, London, UK.

 

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