InterRett, a model for international data collection in a rare genetic disorder.
InterRett’s gene data mirrors population facts, so world-wide Rett research can live online.
01Research in Context
What this study did
Louise et al. (2009) checked if InterRett can stand in for real-world Rett data.
InterRett is an online registry that collects genes and traits from kids worldwide.
They compared its gene-type spread to a big U.S. population list called ARSD.
What they found
The two lists matched. The same main MECP2 mutations showed up just as often.
This means InterRett is safe to use for world-wide gene-behavior studies.
How this fits with other research
Fabio et al. (2014) later mined InterRett to map how R306C and other mutations shape skills. Their work extends this paper by turning the validated list into a fine-grained clinical tool.
Moss et al. (2009) reviewed ASD traits across genetic syndromes and found Rett behaviors differ from idiopathic ASD. InterRett now gives us the numbers to test those ideas at scale.
Hubert et al. (2007) built a brain-tissue portal for autism. Both papers show how rare-condition databases let researchers share scarce data without flying around the globe.
Why it matters
If you assess girls with Rett syndrome, you can trust InterRett numbers when you talk to families about what mutations usually mean. You can also sign clients up to the registry so future studies have more voices. No travel grants needed—just enter the data online.
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02At a glance
03Original 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 a MECP2 mutation 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 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.
Research in autism spectrum disorders, 2009 · doi:10.1016/j.rasd.2008.12.004