Gross Motor Profile in Rett Syndrome as Determined by Video Analysis
| Autor: | Michael E. Msall, Peter Jacoby, Walter E. Kaufmann, Jennepher Downs, Ami Bebbington, Sue Fyfe, Nadia Bahi-Buisson, Helen Leonard, Orla. McIlroy |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
medicine.medical_specialty Adolescent Genotype Methyl-CpG-Binding Protein 2 Developmental Disabilities Gross motor skill Video Recording Rett syndrome Scoliosis Motor Activity Article Disability Evaluation Young Adult Physical medicine and rehabilitation Rett Syndrome medicine Humans Motor activity Young adult Child Motor skill business.industry Age Factors Infant General Medicine Planning support medicine.disease Motor Skills Child Preschool Deletion mutation Mutation Pediatrics Perinatology and Child Health Physical therapy Female Neurology (clinical) Factor Analysis Statistical business |
| Zdroj: | Neuropediatrics. 39:205-210 |
| ISSN: | 1439-1899 0174-304X |
| DOI: | 10.1055/s-0028-1104575 |
| Popis: | This study used video supplemented by parent-report data to describe mobility in girls and women with Rett syndrome (n=99) and to investigate the effects of age, genotype, scoliosis and hand stereotypies on mobility. Most subjects were able to sit, slightly less than half were able to walk and a minority were able to transfer without assistance. Factor analysis enabled the calculation of general mobility and complex motor skills scores. General mobility declined with age and was poorer in those who had surgically treated scoliosis, but was not significantly related to the presence of conservatively managed scoliosis. Complex motor skills were better in those without scoliosis. Those who had a p.R133C, p.R294X, p.R306C or C terminal deletion mutation had better complex motor skills when younger than 13 years, and better general mobility and complex motor skills when 13 years or older. Neither set of motor skills scores was related to the frequency of hand stereotypies. The factor analysis and strong correlation between factor and WeeFIM scores supported the validity of the video assessment. Motor impairment is a fundamental but variable component of the Rett syndrome phenotype. General motor abilities declined with age whilst complex motor skills were more dependent on genotype. This information is useful for the clinician and family when planning support strategies and interventions. |
| Databáze: | OpenAIRE |
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