ERIC Number: EJ810179
Record Type: Journal
Publication Date: 2008-Oct
Abstractor: As Provided
Reference Count: 0
Nosology and Diagnosis of Rett Syndrome
Matson, Johnny L.; Fodstad, Jill C.; Boisjoli, Jessica A.
Research in Autism Spectrum Disorders, v2 n4 p601-611 Oct 2008
Rett Syndrome is one of the least commonly occurring autism spectrum disorders (ASD), but certainly one of the most devastating. A genetic profile has been identified, but checklists still have an important role for prescreening, especially before expensive genetic testing, and to provide precise strengths and weaknesses with respect to the core features of the disorder. Furthermore, research is now demonstrating subprofiles of genetic mutation which may be linked to profiles of behavioral responding and general symptom profiles. We review the literature on the nosology and assessment of Rett Syndrome in light of these developments. Specific symptoms and assessment techniques are discussed and potential future research avenues are reviewed with an eye to strengths and weaknesses of the current knowledge base.
Descriptors: Genetics, Profiles, Clinical Diagnosis, Pervasive Developmental Disorders, Check Lists, Screening Tests, Symptoms (Individual Disorders), Evaluation Methods, Genetic Disorders, Heredity
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Publication Type: Information Analyses; Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A