Determinants of quality of life in Rett syndrome: new findings on associations with genotype.

Published on Sep 1, 2021in Journal of Medical Genetics4.943
· DOI :10.1136/JMEDGENET-2020-107120
Jonathan Mendoza1
Estimated H-index: 1
(UWA: University of Western Australia),
Jenny Downs26
Estimated H-index: 26
+ 1 AuthorsHelen Leonard67
Estimated H-index: 67
(UWA: University of Western Australia)
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.
#1Aleisha Strugnell (Curtin University)H-Index: 1
#2Helen Leonard (UWA: University of Western Australia)H-Index: 67
Last. Jenny Downs (UWA: University of Western Australia)H-Index: 26
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AbstractPurpose: 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 ...
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#1Colleen Pawliuk (UBC: University of British Columbia)H-Index: 3
#2Kim Widger (U of T: University of Toronto)H-Index: 1
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Last. Walter E. Kaufmann (USC: University of South Carolina)H-Index: 14
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Patients with a neurodevelopmental disorder such as Rett syndrome (RS), as well as their families, have complex needs that affect their quality of life (QoL). Therefore, both families and patients with RS must be provided with multidisciplinary health care that can identify the clinical features that most affect their QoL and mental health risks. The main objective of this paper is to provide a comprehensive overview of the QoL subdimensions of families affected by RS, including both the parents...
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#1Jessica Mackay (UWA: University of Western Australia)H-Index: 3
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#1Jessica Mackay (UWA: University of Western Australia)H-Index: 3
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Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. We invited previously recruited families from the International Rett Syndrome Study ...
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Rett syndrome (RTT) is a rare, progressive neurodevelopmental disorder that almost exclusively affects girls, and is caused by a mutation in the MECP2 gene. The authors highlight major milestones in RTT over the past 50 years, and acknowledge the international collaborations that are driving this research programme.
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Cited By2
#1Jatinder Singh ('KCL': King's College London)H-Index: 6
#2Evamaria LanzariniH-Index: 1
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Aim null This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett Syndrome (RTT). null Method null Using the PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes. null Results null Following the thematic analysis, six themes emerged (1) Clinical features of abnormal movement behaviours, (2) Mutational profile...
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