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J Child Psychol Psychiatry. 2002 Mar;43(3):277-87.

Annotation: Rett syndrome: recent progress and implications for research and clinical practice.

Author information

1
Department of Psychological Medicine, Glasgow University and the Royal Hospital for Sick Children, UK. amk5m@clinmed.gla.ac.uk

Abstract

BACKGROUND:

Rett syndrome was first described 40 years ago as a profoundly disabling condition in girls.

METHOD:

Over the last 20 years' national surveys, neuropathological and neurophysiological research have steadily improved understanding of its character and natural history.

RESULTS:

In the last two years identification of the causative mutations in the gene methyl CpG binding protein 2 (Xq28) has led to a sudden expansion in knowledge about the underlying developmental disorder, with important implications for clinical practice and new opportunities to develop more effective intervention.

CONCLUSIONS:

It is now clear that the disorder occurs in males and females and that there is a wide range in severity.

PMID:
11944872
[Indexed for MEDLINE]

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