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

Louise, Sandra, Fyfe, Sue, Bebbington, Ami, Bahi-Buisson, Nadia, Anderson, Alison, Pineda, Merce, Percy, Alan, Zeev, Bruria Ben, Wu, Xi Ru, Bao, Xinhua, Leod, Patrick Mac, Armstrong, Judith and Leonard, Helen (2009) InterRett, a model for international data collection in a rare genetic disorder. Research in Autism Spectrum Disorders, 3 3: 639-659. doi:10.1016/j.rasd.2008.12.004

Author Louise, Sandra
Fyfe, Sue
Bebbington, Ami
Bahi-Buisson, Nadia
Anderson, Alison
Pineda, Merce
Percy, Alan
Zeev, Bruria Ben
Wu, Xi Ru
Bao, Xinhua
Leod, Patrick Mac
Armstrong, Judith
Leonard, Helen
Title InterRett, a model for international data collection in a rare genetic disorder
Journal name Research in Autism Spectrum Disorders   Check publisher's open access policy
ISSN 1750-9467
Publication date 2009
Year available 2009
Sub-type Article (original research)
DOI 10.1016/j.rasd.2008.12.004
Open Access Status
Volume 3
Issue 3
Start page 639
End page 659
Total pages 21
Place of publication Philadelphia, PA United States
Publisher Elsevier Inc.
Collection year 2009
Language eng
Subject 2738 Psychiatry and Mental health
3203 Clinical Psychology
3204 Developmental and Educational Psychology
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 MECP2 mutation database were identified of which 21 (70%) collected phenotype and genotype data. Only three studies were representative of their underlying case population and many had low numbers. Of 1114 InterRett subjects, 935 born after 1976 could be verified as Rett cases and compared with the 295 ARSD subjects. Although more InterRett families had higher education and occupation levels and their children were marginally less severe, the distribution of MECP2 mutation 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.
Keyword International database
Rare disorder
Rett syndrome
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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