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Early development in Rett syndrome - the benefits and difficulties of a birth cohort approach

Peter B Marschik1,2,3, Sanne Lemcke4, Christa Einspieler1

  • 1a Institute of Physiology, Research Unit iDN - Interdisciplinary Developmental Neuroscience , Medical University of Graz , Graz , Austria.

Developmental Neurorehabilitation
|May 24, 2017
PubMed

Insights

Investigating early development in Rett syndrome (RTT) using prospective methods shows promise for understanding pre-diagnostic behaviors. Future studies should incorporate specific developmental indicators for better insights into RTT and other neurodevelopmental disorders.

Area of Science:

  • Neurodevelopmental Disorders
  • Genetics and Neurological Disorders

Background:

  • Rett syndrome (RTT) early development is typically studied retrospectively.
  • Prospective research designs are increasingly used for disorders with late phenotypical onset, like autism spectrum disorder.

Purpose of the Study:

  • To prospectively explore early developmental behaviors in individuals later diagnosed with Rett syndrome.
  • To investigate early motor, speech-language, socio-communicative behaviors, mood, and sleep patterns in RTT.

Main Methods:

  • Utilized data from the Danish National Birth Cohort for a quasi-prospective study.
  • Focused on early developmental milestones and behaviors.

Main Results:

  • The quasi-prospective methodology demonstrated potential for RTT research.
  • Identified areas for future investigation in early development.

Conclusions:

  • Prospective methods offer a promising avenue for RTT research.
  • Future cohort studies should include specific developmental indicators for a broader understanding of neurodevelopmental disorders.
Abstract

Keywords:
Birth cohortRett syndromeearly developmentlongitudinal studyparent interviewsprodrome

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