Journal of child psychology and psychiatry, and allied disciplines · 2002
Annotation: Rett syndrome: recent progress and implications for research and clinical practice.
СтатьяПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод пока не подготовлен
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Ошибки и ограничения
История · было → стало
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Kerr Alison
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultChildChild DevelopmentChild, PreschoolChromosomal Proteins, Non-HistoneDNA-Binding ProteinsDisease ProgressionEpilepsyFemaleHumansInfantInfant, NewbornMaleMethyl-CpG-Binding Protein 2MutationPosturePrevalencePrognosisRepressor ProteinsRett SyndromeSeverity of Illness IndexX Chromosome