Case report: Retracing atypical development: a preserved speech variant of Rett syndrome

J Autism Dev Disord. 2009 Jun;39(6):958-61. doi: 10.1007/s10803-009-0703-x. Epub 2009 Feb 18.

Abstract

The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Child
  • Child Development*
  • Eye Movements
  • Facial Expression*
  • Female
  • Humans
  • Motor Skills*
  • Prospective Studies
  • Retrospective Studies
  • Rett Syndrome / diagnosis
  • Rett Syndrome / psychology*
  • Speech*
  • Stereotyped Behavior*
  • Video Recording