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Related Experiment Video

Updated: May 14, 2026

Neurodevelopmental Reflex Testing in Neonatal Rat Pups
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Published on: April 24, 2017

Early development and regression in Rett syndrome.

J Y L Lee1, H Leonard, J P Piek

  • 1School of Psychology and Speech Pathology and Curtin Health Innovation Research Institute, Curtin University, Perth, Australia.

Clinical Genetics
|January 26, 2013
PubMed
Summary
This summary is machine-generated.

This study profiles early symptoms in girls with Rett syndrome, finding common skill loss and behavioral changes. Understanding these developmental patterns offers new insights into the condition.

Keywords:
MECP2Rett syndromeautistic symptomsdevelopmentregression

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Rett syndrome is a rare genetic neurodevelopmental disorder.
  • Early identification and understanding of symptom progression are crucial for intervention.
  • Developmental profiling offers a method to track symptom onset and evolution.

Purpose of the Study:

  • To characterize the early developmental profile and symptom progression in girls with genetically confirmed Rett syndrome.
  • To identify common patterns of skill regression and behavioral changes.
  • To provide insights into the early clinical manifestations of Rett syndrome.

Main Methods:

  • Developmental profiling was used to examine symptoms in 14 girls with genetically confirmed Rett syndrome.
  • Data was collected from participants in the Australian Rett syndrome and InterRett databases.
  • Clinical observations and skill assessments were conducted.

Main Results:

  • The majority of girls (13/14) experienced regression, primarily in hand skills and/or communication.
  • Social withdrawal and inconsolable crying were common co-occurring symptoms.
  • Gross motor skill decline, particularly loss of balance, was observed in over half the sample (8/14).
  • Early abnormalities included vomiting and strabismus.

Conclusions:

  • The study highlights a consistent pattern of early symptom development in Rett syndrome.
  • Loss of hand/communication skills and specific behavioral changes are key early indicators.
  • Findings contribute to a deeper understanding of the early clinical trajectory of Rett syndrome.