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Ageing in Rett syndrome.

R Cianfaglione1, A Clarke2, M Kerr1

  • 1Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.

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|September 17, 2015
PubMed
Summary
This summary is machine-generated.

Rett syndrome characteristics, including adaptive behavior and repetitive behaviors, remained stable across age groups and over time. Some health aspects, like dental and gastro-intestinal issues, showed age-related decline, and mood indicators varied by age.

Keywords:
Rett syndromeageingintellectual disabilities

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Area of Science:

  • Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Rett syndrome is a rare neurodevelopmental disorder.
  • Understanding its long-term progression is crucial for patient care.
  • A UK national sample was established to study Rett syndrome across age ranges.

Purpose of the Study:

  • To conduct a cross-sectional comparison of individuals with Rett syndrome across different age groups.
  • To perform a longitudinal follow-up study to assess changes over time.
  • To investigate adaptive behavior, behavioral characteristics, and health status in relation to age.

Main Methods:

  • A sample of 91 girls and women with Rett syndrome (ages 4-47) was recruited.
  • 71 participants had a methyl-CpG binding protein-2 (MECP2) gene mutation.
  • 72 participants were followed up after 16 months, with 50 completing assessments; parental questionnaires assessed various characteristics.

Main Results:

  • Adaptive behavior and Rett syndrome characteristics were stable across age groups and longitudinally.
  • Repetitive behaviors and self-injury remained generally stable.
  • Health issues, particularly dental and gastro-intestinal problems, showed some age-related deterioration.

Conclusions:

  • The study supports the post-regression stability characteristic of Rett syndrome.
  • Emergent low mood in individuals with Rett syndrome warrants further investigation.
  • Longitudinal data indicate potential age-related health declines and mood variations.