InterRett, a model for international data collection in a rare genetic disorder.
Sandra Louise, Sue Fyfe, Ami Bebbington, Nadia Bahi-Buisson, Alison Anderson, Mercé Pineda, Alan Percy, Bruria Ben Zeev, Xi Ru Wu, Xinhua Bao, Patrick Mac Leod, Judith Armstrong, Helen Leonard
Research in Autism Spectrum Disorders | Published : 2009
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 thirty 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 ..View full abstract