Gross Motor Profile in Rett Syndrome as Determined by Video Analysis
Gross Motor Profile in Rett Syndrome as Determined by Video Analysis
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.
- University of Western Australia Australia
- Johns Hopkins University United States
- University of Chicago United States
- Curtin University Australia
- Telethon Kids Institute Australia
Adult, Adolescent, Genotype, Methyl-CpG-Binding Protein 2, Developmental Disabilities, Age Factors, Video Recording, Infant, Motor Activity, Disability Evaluation, Young Adult, Scoliosis, Motor Skills, Child, Preschool, Mutation, Rett Syndrome, Humans, Female, Child, Factor Analysis, Statistical
Adult, Adolescent, Genotype, Methyl-CpG-Binding Protein 2, Developmental Disabilities, Age Factors, Video Recording, Infant, Motor Activity, Disability Evaluation, Young Adult, Scoliosis, Motor Skills, Child, Preschool, Mutation, Rett Syndrome, Humans, Female, Child, Factor Analysis, Statistical
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