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)


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.


  • 1 Ager S, Fyfe S, Christodoulou J. et al . Predictors of scoliosis in Rett syndrome.  J Child Neurol. 2006;  21 809-813
  • 2 Amir RE, Veyver IB Van den, Wan M. et al . Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.  Nat Genet. 1999;  23 185-188
  • 3 Bashina VM, Simashkova NV, Grachev VV. et al . Speech and motor disturbances in Rett syndrome.  Neurosci Behav Physiol. 2002;  32 323-327
  • 4 Bebbington A, Anderson A, Ravine D. et al . Investigating genotype-phenotype relationships in Rett syndrome using an international data set.  Neurology. 2008;  70 868-875
  • 5 Cass H, Reilly S, Owen L. et al . Findings from a multidisciplinary clinical case series of females with Rett syndrome.  Dev Med Child Neurol. 2003;  45 325-337
  • 6 Charman T, Neilson TCS, Mash V. et al . Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.  Eur J Hum Genet. 2005;  13 1121-1130
  • 7 Colvin L, Fyfe S, Leonard S. et al . Describing the phenotype in Rett syndrome using a population database.  Arch Dis Child. 2003;  88 38-43
  • 8 Colvin L, Leonard H, Klerk N de. et al . Refining the phenotype of common mutations in Rett syndrome.  J Med Genet. 2004;  41 25-30
  • 9 FitzGerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders.  Mov Disord. 1990;  5 195-202
  • 10 Fyfe S, Downs J, MacIlroy O. et al . Development of a video-based evaluation tool in Rett syndrome.  J Autism Dev Disord. 2007;  37 1636-1646
  • 11 Hagberg B. Clinical manifestations and stages of Rett syndrome.  Ment Retard Dev Disabil Res Rev. 2002;  8 61-65
  • 12 Hagberg B. Rett syndrome: Long-term clinical follow-up experiences over four decades.  J Child Neurol. 2005;  20 722-727
  • 13 Hagberg B, Romell M. Rett females: Patterns of characteristic side-asymmetric neuroimpairments at long-term follow-up.  Neuropediatrics. 2002;  33 324-326
  • 14 Hanks SB. Motor disabilities in the Rett syndrome and physical therapy strategies.  Brain Dev. 1990;  12 157-161
  • 15 Huppke P, Held M, Handefeld F. et al . Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.  Neuropediatrics. 2002;  33 63-68
  • 16 Huppke P, Held M, Laccone F. et al . The spectrum of phenotypes in females with Rett Syndrome.  Brain Dev. 2003;  25 346-351
  • 17 Jian L, Archer HL, Ravine D. et al . p.R270X MECP2 mutation and mortality in Rett syndrome.  Eur J Hum Genet. 2005;  13 1235-1238
  • 18 Jian L, Nagarajan L, Klerk N de. et al . Predictors of seizure onset in Rett syndrome.  J Pediatr. 2006;  149 542-547
  • 19 Kerr AM, Nomura Y, Armstrong D. et al . Guidelines for reporting clinical features in cases with MECP2 mutations.  Brain Dev. 2001;  23 208-211
  • 20 Kerr AM, Prescott RJ. Predictive value of the early clinical signs in Rett disorder.  Brain Dev. 2005;  27 ((Suppl 1)) S20-S24
  • 21 Larsson G, Lindstrom B, Witt Engerstrom I. Rett syndrome from a family perspective: The Swedish Rett Center survey.  Brain Dev. 2005;  27 S14-S19
  • 22 Larsson G, Witt Engerstrom I. Gross motor ability in Rett syndrome – the power of expectation, motivation and planning.  Brain Dev. 2001;  23 S77-S81
  • 23 Laurvick CL, Klerk N de, Bower C. et al . Rett syndrome in Australia: a review of the epidemiology.  J Pediatr. 2006;  148 347-352
  • 24 Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia.  Eur Child Adolesc Psychiatr. 1997;  6 8-10
  • 25 Leonard H, Colvin L, Christodoulou J. et al . Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations?.  J Med Genet. 2003;  40 e52
  • 26 Msall ME, DiGaudio K, Rogers BT. et al . The Functional Indepen-dence Measure for Children (WeeFIM). Conceptual basis and pilot use in children with developmental disabilities.  Clin Pediatr. 1994;  33 421-430
  • 27 Neul JL, Fang P, Barrish J. et al . Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.  Neurology. 2008;  70 1313-1321
  • 28 Schanen C, Houwink EJ, Dorrani N. et al . Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.  Am J Med Genet A. 2004;  126 129-140
  • 29 Smeets E, Terhal P, Casaer P. et al . Rett syndrome in females with CTS hot spot deletions: a disorder profile.  Am J Med Genet A. 2005;  132 117-120
  • 30 StataCorp .Stata Statistical Software. In: 9.0 R, editor. College Station. Texas: Stata Corporation 2005
  • 31 Tabachnik BG, Fidell LS. Using Multivariate Statistics. 3rd Edition. Harper Collins College Publishers, New York 1996
  • 32 Witt Engerstrom I. Rett syndrome: A retrospective pilot study on potential early predictive symptomatology.  Brain Dev. 1987;  9 481-486


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



Phone: +61/08/9489 77 90

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