Determinants of quality of life in Rett syndrome: New findings on associations with genotype
Background: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. Methods: The International Ret...
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| Format: | Journal Article |
| Language: | English |
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BMJ PUBLISHING GROUP
2021
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| Subjects: | |
| Online Access: | http://purl.org/au-research/grants/nhmrc/1103745 http://hdl.handle.net/20.500.11937/86907 |
| _version_ | 1848764867718152192 |
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| author | Mendoza, J. Downs, Jennepher Wong, K. Leonard, H. |
| author_facet | Mendoza, J. Downs, Jennepher Wong, K. Leonard, H. |
| author_sort | Mendoza, J. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Background: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome.
Methods: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life.
Results: Compared with individuals with the p.Arg270∗ mutation, those with the p.Arg294∗ mutation type had the poorest quality of life (coeff -12.81, 95% CI -23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life.
Conclusions: These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies. |
| first_indexed | 2025-11-14T11:26:11Z |
| format | Journal Article |
| id | curtin-20.500.11937-86907 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-14T11:26:11Z |
| publishDate | 2021 |
| publisher | BMJ PUBLISHING GROUP |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-869072022-01-05T05:56:28Z Determinants of quality of life in Rett syndrome: New findings on associations with genotype Mendoza, J. Downs, Jennepher Wong, K. Leonard, H. Science & Technology Life Sciences & Biomedicine Genetics & Heredity genotype movement disorders nervous system diseases phenotype SLEEP DISTURBANCES EPILEPSY CHILDREN HEALTH QUESTIONNAIRE CONSTRUCTION CHILDHOOD PHENOTYPE FRAMEWORK SEVERITY Background: Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. Methods: The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for Children, the Rett Syndrome Behavioural Questionnaire), parental health (12-item Short Form Health Survey) sociodemographic factors (parental employment and education) and quality of life (Quality of Life Inventory-Disability) for 210 individuals with Rett syndrome. Univariate and multivariate regressions were used to analyse the relationships between the independent variables and quality of life. Results: Compared with individuals with the p.Arg270∗ mutation, those with the p.Arg294∗ mutation type had the poorest quality of life (coeff -12.81, 95% CI -23.49 to 2.12), despite this being recognised as a clinically milder genotype. Overall better walking and feeding skills and seizure parameters were more associated with better quality of life and poor sleep and behavioural difficulties with poorer quality of life. Conclusions: These findings suggest that genotype, functioning and health each have implications for quality of life and should be considered when counselling families and planning clinical and support management strategies. 2021 Journal Article http://hdl.handle.net/20.500.11937/86907 10.1136/jmedgenet-2020-107120 English http://purl.org/au-research/grants/nhmrc/1103745 http://purl.org/au-research/grants/nhmrc/1103746 http://purl.org/au-research/grants/nhmrc/1117105 BMJ PUBLISHING GROUP fulltext |
| spellingShingle | Science & Technology Life Sciences & Biomedicine Genetics & Heredity genotype movement disorders nervous system diseases phenotype SLEEP DISTURBANCES EPILEPSY CHILDREN HEALTH QUESTIONNAIRE CONSTRUCTION CHILDHOOD PHENOTYPE FRAMEWORK SEVERITY Mendoza, J. Downs, Jennepher Wong, K. Leonard, H. Determinants of quality of life in Rett syndrome: New findings on associations with genotype |
| title | Determinants of quality of life in Rett syndrome: New findings on associations with genotype |
| title_full | Determinants of quality of life in Rett syndrome: New findings on associations with genotype |
| title_fullStr | Determinants of quality of life in Rett syndrome: New findings on associations with genotype |
| title_full_unstemmed | Determinants of quality of life in Rett syndrome: New findings on associations with genotype |
| title_short | Determinants of quality of life in Rett syndrome: New findings on associations with genotype |
| title_sort | determinants of quality of life in rett syndrome: new findings on associations with genotype |
| topic | Science & Technology Life Sciences & Biomedicine Genetics & Heredity genotype movement disorders nervous system diseases phenotype SLEEP DISTURBANCES EPILEPSY CHILDREN HEALTH QUESTIONNAIRE CONSTRUCTION CHILDHOOD PHENOTYPE FRAMEWORK SEVERITY |
| url | http://purl.org/au-research/grants/nhmrc/1103745 http://purl.org/au-research/grants/nhmrc/1103745 http://purl.org/au-research/grants/nhmrc/1103745 http://hdl.handle.net/20.500.11937/86907 |