title: Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database.
abstract: Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were obtained on subjects (n = 144) identified from an Australian population-based database. Hand stereotypies were demonstrated by most subjects (94.4%), 15 categories were observed and midline wringing was seen in approximately 60% of subjects. There was a median of two stereotypies per subject but this number decreased with age. Clapping and mouthing of hands were more prevalent in girls younger than 8 years and wringing was more prevalent in women 19 years or older. Clapping was commoner in those with p.R306C and early truncating mutations, and much rarer in those with p.R106W, p.R270X, p.R168X, and p.R255X. Stereotypies tended to be less frequent in those with more severe mutations. Otherwise, there were no clear relationships between our categories of stereotypies and mutation. Approximately a quarter each had predominantly right and left handed stereotypies and for the remaining half, no clear laterality was seen. Results were similar for all cases and when restricted to those with a pathogenic mutation. Hand stereotypies changed with increasing age but limited relationships with MECP2 mutations were identified.
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia.
authors.forename: Philippa
authors.initials: P
authors.lastname: Carter
authors.forename: Jenny
authors.initials: J
authors.lastname: Downs
authors.forename: Ami
authors.initials: A
authors.lastname: Bebbington
authors.forename: Simon
authors.initials: S
authors.lastname: Williams
authors.forename: Peter
authors.initials: P
authors.lastname: Jacoby
authors.forename: Walter E
authors.initials: WE
authors.lastname: Kaufmann
authors.forename: Helen
authors.initials: H
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D018672:Community Health Planning; D016208:Databases, Factual / Q000706:statistics & numerical data; D005260:Female; D006225:Hand / Q000503:physiopathology*; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation / Q000235:genetics; D015518:Rett Syndrome / Q000150:complications* / Q000235:genetics; D019956:Stereotypic Movement Disorder / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D055815:Young Adult
chemical_list: D051783:Methyl-CpG-Binding Protein 2