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Abnormal general movements in girls with Rett disorder: the first four months of life

Christa Einspieler1, Alison M Kerr, Heinz F R Prechtl

  • 1Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21, 8010 Graz, Austria. christa.einspieler@meduni-graz.at

Brain & Development
|September 27, 2005
PubMed

Insights

Rett syndrome is a developmental disorder that manifests within the first weeks of life, not after a period of normal early development. Analysis of general movements (GMs) in infants with Rett disorder revealed abnormal GMs from birth.

Area of Science:

  • Neurodevelopmental disorders
  • Pediatric neurology
  • Movement analysis

Background:

  • Rett syndrome was historically considered to have a period of normal early development.
  • Emerging evidence suggests Rett syndrome is a disorder manifesting very early in infancy.

Purpose of the Study:

  • To investigate the presence and characteristics of spontaneous movements, specifically general movements (GMs), in infants with Rett syndrome during the first 4 months of life.
  • To determine if GMs are abnormal from birth in infants with Rett syndrome.

Main Methods:

  • Systematic video assessment of spontaneous general movements (GMs) in 14 infants diagnosed with Rett syndrome.
  • Analysis focused on the first 4 months of life, utilizing standardized measures for early spontaneous movements.

Main Results:

  • None of the 14 infants with Rett syndrome exhibited normal general movements (GMs) in the first 4 months.
  • While GMs were abnormal, a specific pattern unique to Rett syndrome was not identified.
  • The observed abnormal GMs and their developmental trajectories differed from those seen in infants with acquired brain lesions.

Conclusions:

  • Rett syndrome is demonstrably a disorder that manifests within the first weeks of life.
  • Early spontaneous movement analysis, particularly GMs, can identify abnormalities indicative of Rett syndrome from a very early age.

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