Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome.

There is increasing use of the Internet for the transfer and sharing of medical information. Opportunities to pilot surveys online are now also available. An online HTML questionnaire allowed us to pilot a questionnaire about functional ability and the use of health services in Rett syndrome, a rare neurological disorder. Subscribers to a list server completed the online questionnaire and returned data by CGI script-formatted e-mail. Text boxes were provided for open-ended questions. Eighty-six questionnaires were returned from 224 subscribers with 76% returned within the first week. Almost all respondents were Caucasian, well educated and English speaking. The issue of selection bias and the need for mechanisms to validate the diagnosis are important considerations in any research facilitated through the Internet. However, we were able to contact an otherwise inaccessible group in a fast and cost-efficient manner and effectively pilot our survey without tapping into our own study population.

Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective.

PURPOSE: Rett syndrome is a neurological disorder almost exclusively affecting females. Information on its genetic basis has recently become available. However there is little information on the burden and impact of this disorder on the family despite the apparent variability in phenotype. The purpose of this study was to obtain information on the burden and impact of Rett syndrome by examining the functional abilities, medical needs and use of medical, therapy and accommodation services in the sample. METHOD: We used the internet to access an opportunistic sample of parents of 86 females with Rett syndrome. Data on functional status (using the Wee FIM in questionnaire format) morbidity patterns and use of services were collected. RESULTS: The response indicated that the instrument used would be appropriate for tracking these parameters in a population-based cohort. Subjects with Rett syndrome in this pilot sample were completely or partially dependent in all functional domains and significantly more so than children with Down syndrome. CONCLUSION: The complexity of dependency with need for quality medical surveillance throughout adolescence and adulthood requires accessible centres of excellence linking families and skilled professionals. We plan to use this instrument to obtain a more comprehensive profile of the health, functioning and service use of a total population of children with Rett syndrome.