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Clinical characteristics of children with rett syndrome

Zee-A Han1, Ha Ra Jeon, Seong Woo Kim

  • 1Department of Physical Medicine and Rehabilitation, National Health Insurance Corporation Ilsan Hostpital, Goyang 410-719, Korea.

Annals of Rehabilitation Medicine
|July 28, 2012
PubMed

Insights

This study on Korean children with Rett syndrome found that while most experienced developmental regression, functional abilities like walking and the severity of scoliosis varied. Understanding these clinical features aids in rehabilitation planning.

Area of Science:

  • Pediatric Neurology
  • Developmental Disorders
  • Genetics

Background:

  • Rett syndrome is a rare neurodevelopmental disorder primarily affecting girls.
  • Early identification and understanding of clinical trajectories are crucial for effective management.

Purpose of the Study:

  • To characterize the clinical features of Korean children diagnosed with Rett syndrome.
  • To explore functional aspects and changes in clinical presentation over time.

Main Methods:

  • Clinical observation of 26 Korean children with Rett syndrome up to age five or older.
  • Survey of medical history, developmental milestones, and specific clinical features.
  • Analysis of clinical characteristics based on functional status and growth-related changes.

Main Results:

  • All patients exhibited developmental regression; only 14 could walk by the final assessment.
  • Twenty patients required medication for epilepsy, and 16 showed progressive scoliosis.
  • Higher functional status correlated with earlier walking ability, while lower function was associated with more severe scoliosis and earlier seizure onset.

Conclusions:

  • The study identified 26 clinical characteristics in Korean children with Rett syndrome.
  • Clinical features evolve with age, providing insights for tailored rehabilitation strategies.
  • Knowledge of these evolving characteristics can help minimize long-term disabilities.
Abstract

Keywords:
Clinical featureGaitRett syndrome

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