Neuropediatrics 2008; 39(4): 205-210
DOI: 10.1055/s-0028-1104575
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Gross Motor Profile in Rett Syndrome as Determined by Video Analysis

J. A. Downs 1 , A. Bebbington 1 , P. Jacoby 1 , M. E. Msall 2 , O. McIlroy 1 , S. Fyfe 3 , N. Bahi-Buisson 4 , W. E. Kaufmann 5 , H. Leonard 1
  • 1Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia
  • 2University of Chicago Comer and LaRabida Children's Hospitals, Kennedy Center on Intellectual and Developmental Disabilities, Institute of Molecular Pediatric Sciences & Section of Developmental and Behavioral Pediatrics, Chicago, Illinois, USA
  • 3School of Public Health, Curtin University of Technology, Perth, Western Australia
  • 4Pediatric Neurology, Necker Enfants Malades Hospital Paris, Inserm, U663, University Paris V Rene Descartes, France
  • 5Center for Genetic Disorders of Cognition & Behavior, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Further Information

Publication History

received 28.12.2007

accepted 05.11.2008

Publication Date:
22 January 2009 (online)

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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.

References

Correspondence

Dr. H. Leonard

Telethon Institute for Child Health Research

Centre for Child Health Research

The University of Western Australia

PO Box 855

6872 West Perth

WA

Australia

Phone: +61/08/9489 77 90

Fax: +61/08/9489 77 00

Email: hleonard@ichr.uwa.edu.au