title: Gross motor profile in rett syndrome as determined by video analysis.
abstract: Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the impact of age, genotype, scoliosis and hand stereotypies. Factor analysis enabled the calculation of general and complex gross motor skills scores. Most subjects were able to sit, slightly less than half were able to walk and a minority were able to transfer without assistance. General gross motor skills declined with age and were poorer in those who had surgically treated scoliosis but not conservatively managed scoliosis. Complex gross motor skills did not decline with age and were better in those without scoliosis. Those with a p.R133C, p.R294X, or a p.R255X mutation appear to have better motor skills overall than those with a p.R270X or large deletion mutation. Motor scores were not related to the frequency of hand stereotypies. This information is useful for the clinician and family when planning support strategies and interventions.
authors.affiliation: Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia.
authors.forename: J A
authors.initials: JA
authors.lastname: Downs
authors.forename: A
authors.initials: A
authors.lastname: Bebbington
authors.forename: P
authors.initials: P
authors.lastname: Jacoby
authors.forename: M E
authors.initials: ME
authors.lastname: Msall
authors.forename: O
authors.initials: O
authors.lastname: McIlroy
authors.forename: S
authors.initials: S
authors.lastname: Fyfe
authors.forename: N
authors.initials: N
authors.lastname: Bahi-Buisson
authors.forename: W E
authors.initials: WE
authors.lastname: Kaufmann
authors.forename: H
authors.initials: H
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities; D004185:Disability Evaluation; D005163:Factor Analysis, Statistical; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009043:Motor Activity / Q000502:physiology*; D009048:Motor Skills / Q000502:physiology*; D009154:Mutation; D015518:Rett Syndrome / Q000235:genetics / Q000503:physiopathology*; D012600:Scoliosis / Q000503:physiopathology; D014741:Video Recording / Q000379:methods*; D055815:Young Adult
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2