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Rett syndrome

How is it diagnosed?

The diagnosis is confirmed by detecting a mutation (fault) on MECP2, a gene at the tip of the X chromosome. In just a few people with all or most of the clinical signs of Rett a mutation has not been found and it is possible that these people have a fault affecting control of MECP2 or of genes whose activity should be regulated by MECP2.

A young child with the Rett disorder may require many investigations because there are many disorders which may cause failure to develop and loss of skills in infancy. However, poor early progress in spite of a normal appearance should alert the physician to test for Rett mutations and a reduction in skills at one to two years is highly suggestive.

View What are the symptoms? What are the symptoms?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written February 2002 by Dr Orlee Udwin, Consultant Clinical Psychologist, Society for the Study of Behavioural Phenotypes and Dr Alison Kerr. Last updated August 2005 by Dr Alision Kerr, Consultant Paediatrician and Senior Lecturer, Department of Psychological Medicine, University of Glasgow and Gartnavel Royal Hospital, Glasgow, UK with material on prenatal diagnosis by Professor Angus Clarke, Professor in Medical Genetics, Institute of Medical Genetics University of Wales College of Medicine, Cardiff, UK.

 

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