These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods
Epstein A, Leonard H, Davis E, Williams K, Reddihough D, Murphy N, Whitehouse A, Downs J. Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methods. American Journal of Medical Genetics Part A. 2015;170(3):645-53. Download snapshot, see article abstract.
Quality of life refers to how satisfied a person is with their life experiences. Children with Rett syndrome have unique life experiences and therefore this study explored quality of life in school-aged children with Rett syndrome.
What we did
Twenty-one families, whose daughter with Rett syndrome was aged 6-18 years and registered with the Australian Rett Syndrome Database, were invited to participate in interviews about aspects of their daughters' lives that were satisfying or challenging to them. We identified the areas which were important for girls with Rett syndrome and compared them with existing measures.
What we found
Parent interviews identified ten important areas relating to quality of life in Rett syndrome: physical health, body pain and discomfort, behavioural and emotional well-being, communication skills, movement and mobility, social connectedness, variety of activities, provision of targeted services, stability of daily routines, and the natural environment. Stability of daily routines and the natural environment were newly identified areas not previously used in existing quality of life measures.
What does it mean
These findings illustrate the importance of health, daily functioning and participation in community activities for quality of life and guide how we need to support individuals with Rett syndrome. Also, existing quality of life scales did not fully capture the quality of life of children with Rett syndrome. Our findings therefore support the need for a new parent-report questionnaire to measure quality of life for Rett syndrome.
For further reports and findings, see our publications list.