Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome
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 adul...
| Main Authors: | , , , |
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| Format: | Journal Article |
| Language: | English |
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TAYLOR & FRANCIS LTD
2019
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| Online Access: | http://hdl.handle.net/20.500.11937/80098 |
| _version_ | 1848764161326055424 |
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| author | Strugnell, A. Leonard, H. Epstein, A. Downs, Jennepher |
| author_facet | Strugnell, A. Leonard, H. Epstein, A. Downs, Jennepher |
| author_sort | Strugnell, A. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T11:14:57Z |
| format | Journal Article |
| id | curtin-20.500.11937-80098 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T11:14:57Z |
| publishDate | 2019 |
| publisher | TAYLOR & FRANCIS LTD |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-800982020-07-24T06:32:29Z Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome Strugnell, A. Leonard, H. Epstein, A. Downs, Jennepher Science & Technology Life Sciences & Biomedicine Rehabilitation Rett syndrome quality of life qualitative research neurodevelopmental disability CEREBRAL-PALSY CHILDREN ADOLESCENTS WOMEN DISABILITY SEVERITY CRITERIA GIRLS MECP2 CARE 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. 2019 Journal Article http://hdl.handle.net/20.500.11937/80098 10.1080/09638288.2019.1610801 English TAYLOR & FRANCIS LTD fulltext |
| spellingShingle | Science & Technology Life Sciences & Biomedicine Rehabilitation Rett syndrome quality of life qualitative research neurodevelopmental disability CEREBRAL-PALSY CHILDREN ADOLESCENTS WOMEN DISABILITY SEVERITY CRITERIA GIRLS MECP2 CARE Strugnell, A. Leonard, H. Epstein, A. Downs, Jennepher Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome |
| title | Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome |
| title_full | Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome |
| title_fullStr | Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome |
| title_full_unstemmed | Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome |
| title_short | Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome |
| title_sort | using directed-content analysis to identify a framework for understanding quality of life in adults with rett syndrome |
| topic | Science & Technology Life Sciences & Biomedicine Rehabilitation Rett syndrome quality of life qualitative research neurodevelopmental disability CEREBRAL-PALSY CHILDREN ADOLESCENTS WOMEN DISABILITY SEVERITY CRITERIA GIRLS MECP2 CARE |
| url | http://hdl.handle.net/20.500.11937/80098 |