A national survey of Rett syndrome: behavioural characteristics

Journal of Neurodevelopmental Disorders
Rina CianfaglioneDavid Felce

Abstract

The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. There is variability in the manifestation of problem behaviours potentially associated with the synd...Continue Reading

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Citations

Jun 25, 2016·Journal of Developmental and Physical Disabilities·Rina CianfaglioneDavid Felce
Sep 1, 2015·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Jordan W Smoller
Sep 18, 2015·Journal of Neurodevelopmental Disorders·Katherine V BarnesWalter E Kaufmann
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Mar 29, 2019·Neurology·Daniel G GlazeUNKNOWN Rett 002 Study Group
Jun 24, 2020·Journal of Applied Research in Intellectual Disabilities : JARID·Elisa PariEnrico Ripamonti
Sep 17, 2015·Journal of Intellectual Disability Research : JIDR·R CianfaglioneD Felce
Sep 25, 2020·Journal of Pediatric Gastroenterology and Nutrition·Kathleen J MotilDaniel G Glaze
Dec 1, 2017·ACS Chemical Neuroscience·Wendy A GoldJohn Christodoulou

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