Annotation: Rett syndrome: recent progress and implications for research and clinical practice.
BACKGROUND
Rett syndrome was first described 40 years ago as a profoundly disabling condition in girls.


METHODS
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.
Kerr
Alison
A
Department of Psychological Medicine, Glasgow University and the Royal Hospital for Sick Children, UK. amk5m@clinmed.gla.ac.uk
D000293:Adolescent; D000328:Adult; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D018450:Disease Progression; D004827:Epilepsy; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation; D011187:Posture; D015995:Prevalence; D011379:Prognosis; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D012720:Severity of Illness Index; D014960:X Chromosome / Q000235:genetics*
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins