Gross Motor Profile in Rett Syndrome as Determined by Video Analysis
Year: 2008
Type: article
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.
Source: Neuropediatrics
Institutions: The Kids Research Institute Australia, The University of Western Australia, University of Chicago, La Rabida Children's Hospital, Comer Children's Hospital, Curtin University, Hôpital Necker-Enfants Malades, Inserm, Université Paris Descartes, Kennedy Krieger Institute, Johns Hopkins University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2117267545