Clinical manifestations and stages of Rett syndrome.
The presentation and clinical diagnosis of Rett syndrome at various ages and stages are reviewed. In addition to the classical form, variability in phenotype between different atypical Rett forms is given. Obligatory, supportive, and differential diagnostic criteria are summarized. Long-term follow-up findings in ageing Rett women are addressed.
Department of Neurology, The Queen Silvia Children's Hospital, Göteborg University, Göteborg, Sweden. hagberg@pediat.gu.se
Bengt
B
Hagberg
D000367:Age Factors; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D010641:Phenotype; D015518:Rett Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics