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Nosology and diagnosis of Rett Syndrome / Johnny L. MATSON in Research in Autism Spectrum Disorders, 2-4 (October 2008)
[article]
Titre : Nosology and diagnosis of Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Johnny L. MATSON, Auteur ; Jessica A. BOISJOLI, Auteur ; Jill C. FODSTAD, Auteur Année de publication : 2008 Article en page(s) : p.601-611 Langues : Anglais (eng) Mots-clés : Rett-Syndrome Nosology Assessment Autism-spectrum-disorders Genetics Checklists Behavioral-symptoms Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1016/j.rasd.2007.12.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=607
in Research in Autism Spectrum Disorders > 2-4 (October 2008) . - p.601-611[article] Nosology and diagnosis of Rett Syndrome [Texte imprimé et/ou numérique] / Johnny L. MATSON, Auteur ; Jessica A. BOISJOLI, Auteur ; Jill C. FODSTAD, Auteur . - 2008 . - p.601-611.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 2-4 (October 2008) . - p.601-611
Mots-clés : Rett-Syndrome Nosology Assessment Autism-spectrum-disorders Genetics Checklists Behavioral-symptoms Index. décimale : PER Périodiques Résumé : 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. En ligne : http://dx.doi.org/10.1016/j.rasd.2007.12.001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=607