Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome

Abstract

Purpose: Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene. Recent research identified the domains of quality of life (QOL) important for children with RTT but there has been no investigation of domains important for adults. This qualitative study explored QOL in adults with RTT and compared domains with those previously identified for children.

Methods: The sample comprised parents and/or primary caregivers of 20 adults, aged 18–38 years, who were registered with the Australian Rett Syndrome Database. Semi-structured telephone interviews were conducted to investigate aspects of life that were observed to be satisfying or challenging. Data were analyzed using directed content analysis, based on existing QOL domains for children with RTT that related to health and wellbeing, daily activities, and community immersion and services.

Results: Each of the domains identified for children with RTT was represented in the adult dataset, with no new domains emerging.

Conclusion: This is the first study to identify QOL domains important for adults with RTT. Health and therapy needs are ongoing during adulthood but services may be limited. Findings will guide choice of an appropriate QOL measure for this group.

IMPLICATIONS FOR REHABILITATION

• Knowing the important domains of quality of life enables clinicians and service providers to systematically review and address key management issues.

• Despite a high level of dependency and sometimes poor health, parent caregivers perceive potential for strong quality of life in adulthood.

• Services that maintain functional skills and health throughout the lifespan are valued for their support of quality of life in adults with Rett syndrome.

Keywords:

• Rett syndrome
• quality of life
• qualitative research
• neurodevelopmental disability

Acknowledgements

The authors would like to thank all families and group home caregivers who participated in the study by sharing their thoughts and time. We also acknowledge and thank the Australian Pediatric Surveillance Unit and the Rett Syndrome Association of Australia for their ongoing support in case ascertainment.

Disclosure statement

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Additional information

Funding

The Australian Rett Syndrome Study was previously supported by the National Institute of Health Grant 5R01HD043100-05 and National Health and Medical Research Council (NHMRC) project grants #303189 and #1004384. This study was partly funded by the NHMRC project grant #1103745. Associate Professor Helen Leonard is currently funded by NHMRC Senior Research Fellowship 1103741.