InterRett, a model for international data collection in a rare genetic disorder

S Louise; S Fyfe; A Bebbington; N Bahi-Buisson; A Anderson; M Pineda; A Percy; BB Zeev; XR Wu; X Bao; PM Leod; J Armstrong; H Leonard

Journal article

InterRett, a model for international data collection in a rare genetic disorder

S Louise, S Fyfe, A Bebbington, N Bahi-Buisson, A Anderson, M Pineda, A Percy, BB Zeev, XR Wu, X Bao, PM Leod, J Armstrong, H Leonard

Research in Autism Spectrum Disorders | Published : 2009

DOI: 10.1016/j.rasd.2008.12.004

Abstract

Rett syndrome (RTT) is a rare genetic disorder within the autistic spectrum. This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian Rett syndrome database (ARSD). It also explored the strengths and limitations of InterRett in comparison with other studies. A literature review compared InterRett with RTT population-based and case-based studies of 30 or more cases that investigated genotype and/or phenotype relationships. Questionnaire data were used to determine case status and to investigate the comparability of InterRett and ARSD. Twenty-four case series, five population-based studies and a ME..

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