title: A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health.
abstract: As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.
authors.affiliation: Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
authors.forename: Rina
authors.initials: R
authors.lastname: Cianfaglione
authors.affiliation: Institute of Cancer and Genetics, Institute of Medical Genetics Building, Cardiff University, Cardiff, UK.
authors.forename: Angus
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: Mike
authors.initials: M
authors.lastname: Kerr
authors.affiliation: Centre for Educational Development Appraisal and Research, University of Warwick, Coventry, England.
authors.forename: Richard P
authors.initials: RP
authors.lastname: Hastings
authors.affiliation: Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
authors.forename: Chris
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: David
authors.initials: D
authors.lastname: Felce
mesh_terms: D001835:Body Weight / Q000502:physiology; D004827:Epilepsy / Q000473:pathology*; D005260:Female; D041981:Gastrointestinal Tract / Q000473:pathology*; D006304:Health Status; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D015518:Rett Syndrome / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology*; D018709:Statistics, Nonparametric; D011795:Surveys and Questionnaires
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: MECP2; Rett syndrome; clinical characteristics; health; intellectual disabilities