Early development and regression in Rett syndrome

Clin Genet. 2013 Dec;84(6):572-6. doi: 10.1111/cge.12110. Epub 2013 Mar 11.


This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome.

Keywords: MECP2; Rett syndrome; autistic symptoms; development; regression.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Australia
  • Child, Preschool
  • Databases, Factual
  • Developmental Disabilities / diagnosis*
  • Female
  • Humans
  • Infant
  • Mutation
  • Phenotype*
  • Regression, Psychology*
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / epidemiology
  • Rett Syndrome / genetics*