title: Ageing in Rett syndrome.
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.
authors.affiliation: Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
authors.forename: R
authors.initials: R
authors.lastname: Cianfaglione
authors.affiliation: Institute of Cancer and Genetics, Cardiff University, Cardiff, UK.
authors.forename: A
authors.initials: A
authors.lastname: Clarke
authors.affiliation: Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
authors.forename: M
authors.initials: M
authors.lastname: Kerr
authors.affiliation: Centre for Educational Development Appraisal and Research, University of Warwick, Coventry, UK.
authors.forename: R P
authors.identifier: http://orcid.org/0000-0002-0495-8270
authors.initials: RP
authors.lastname: Hastings
authors.affiliation: Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
authors.forename: C
authors.initials: C
authors.lastname: Oliver
authors.affiliation: Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
authors.forename: D
authors.initials: D
authors.lastname: Felce
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008875:Middle Aged; D015518:Rett Syndrome / Q000503:physiopathology*; D055815:Young Adult
keywords: Rett syndrome; ageing; intellectual disabilities