Towards a full life with Rett disorder.
In 1999, mutations in the gene methyl CpG2 (MECP2) were found to be the cause of the profoundly intellectually disabling Rett syndome. Through the combined efforts of laboratory and clinical scientists, therapists, educators and the families of affected people, many of its underlying anatomical, neurochemical, physiological and functional associations are now known, and some practical experience has been gained in therapeutic intervention. It is clear that there is considerable potential for reduced dependence and the provision of a happy and interesting life in this developmental disorder and there remains a need to identify the neural mechanisms which are available to people with Rett and to ensure that appropriate services are accessible.
Kerr
A M
AM
Academic Centre, Department of Psychological Medicine, University of Glasgow, Gartnavel Royal Hospital, UK. amk5m@clinmed.gla.ac.uk
Burford
B
B
D000293:Adolescent; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D020380:Needs Assessment; D011788:Quality of Life; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics / Q000503:physiopathology / Q000534:rehabilitation*
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins