title: InterRett, a model for international data collection in a rare genetic disorder.
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 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 aMECP2mutation database were identified of which twenty one (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of one thousand one hundred and fourteen InterRett subjects, nine hundred and thirty five born after 1976 could be verified as Rett cases and compared with the two hundred and ninety five ARSD subjects. Although more InterRett families had higher education and occupation levels and their children were marginally less severe, the distribution ofMECP2mutation types was similar. The InterRett can be used with confidence to investigate genotype phenotype associations and clinical variation in RTT and provides an exemplary international model for other rare disorders.
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia.
authors.forename: Sandra
authors.initials: S
authors.lastname: Louise
authors.affiliation: Curtin University, Perth, Western Australia.
authors.forename: Sue
authors.initials: S
authors.lastname: Fyfe
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia.
authors.forename: Ami
authors.initials: A
authors.lastname: Bebbington
authors.affiliation: Université René Descartes - Paris V, Hopital Necker Enfants Malades, Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia.
authors.forename: Alison
authors.initials: A
authors.lastname: Anderson
authors.affiliation: Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: Mercé
authors.initials: M
authors.lastname: Pineda
authors.affiliation: Civitan International Research Centre, University of Alabama, Birmingham, Alabama, USA.
authors.forename: Alan
authors.initials: A
authors.lastname: Percy
authors.affiliation: Safra Pediatric Hospital, Sheba Medical Center, Ramat-Gan, Israel.
authors.forename: Bruria
authors.initials: B
authors.lastname: Ben Zeev
authors.affiliation: Peking University First Hospital, Beijing, China.
authors.forename: Xi Ru
authors.initials: XR
authors.lastname: Wu
authors.affiliation: Peking University First Hospital, Beijing, China.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
authors.affiliation: Victoria General Hospital, Victoria, British Columbia, Canada.
authors.forename: Patrick
authors.initials: P
authors.lastname: Mac Leod
authors.affiliation: Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: Judith
authors.initials: J
authors.lastname: Armstrong
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia.
authors.forename: Helen
authors.initials: H
authors.lastname: Leonard
keywords: MECP2; Rett syndrome; international database; phenotype; rare disorder