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.