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

Aleisha Strugnell, Helen Leonard, Amy Epstein, Jenny Downs

Research output: Contribution to journalArticle

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.

Original languageEnglish
Number of pages8
JournalDisability and Rehabilitation
DOIs
Publication statusE-pub ahead of print - 10 May 2019

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Rett Syndrome
Quality of Life
Health
Caregivers
Social Welfare
Immersion
Rehabilitation
Parents
Databases
Interviews
Mutation

Cite this

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title = "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 = "neurodevelopmental disability, qualitative research, quality of life, Rett syndrome",
author = "Aleisha Strugnell and Helen Leonard and Amy Epstein and Jenny Downs",
year = "2019",
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doi = "10.1080/09638288.2019.1610801",
language = "English",
journal = "Disability & Rehabilitation",
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publisher = "Taylor & Francis",

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AB - 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.

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