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- Title
Ageing in Rett syndrome.
- Authors
Cianfaglione, R.; Clarke, A.; Kerr, M.; Hastings, R. P.; Oliver, C.; Felce, D.
- Abstract
Background The aim was to gain a UK national sample of people with Rett syndrome across the age range and (1) conduct a cross-sectional comparison of age groups and (2) undertake a longitudinal follow-up. Methods From 308 potential participants approached to take part, a sample of 91 girls and women was achieved (29.5%). Their ages ranged from 4 to 47 years, and 71 were known to have a mutation in the methyl-CpG binding protein-2 ( MECP2) gene. Seventy-two of the initial sample were followed up 16 months later, and 50 returned completed assessments (69.4%). Their ages ranged from 7 to 48 years, and 42 were MECP2 positive. Parental questionnaire measures of Rett syndrome specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. Results Adaptive behaviour and behavioural characteristics of Rett syndrome were similar across age groups and, where assessed, stable over time, as were repetitive behaviours generally and self-injury. There was some suggestion of deterioration in health arising with ageing, principally contributed to by deteriorations in dental and gastro-intestinal problems both with moderate effect sizes. Indicators of mood, interest and pleasure differed significantly across age groups. The total scale score significantly deteriorated over time, with a moderate effect size. Conclusions This study provides further evidence for the post-regression stability that characterises Rett syndrome. Emergent low mood in Rett syndrome requires further research.
- Subjects
UNITED Kingdom; CHILDREN; TEENAGERS; ADULTS; AGING; CHI-squared test; RESEARCH funding; RETT syndrome; SCALE analysis (Psychology); CROSS-sectional method; MANN Whitney U Test; KRUSKAL-Wallis Test
- Publication
Journal of Intellectual Disability Research, 2016, Vol 60, Issue 2, p182
- ISSN
0964-2633
- Publication type
Article
- DOI
10.1111/jir.12228