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Medical Issues in Adults with Rett Syndrome - A National Survey.

Mari Wold Henriksen1,2, Hilde Breck2,3, Stephen von Tetzchner2

  • 1Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway.

Developmental Neurorehabilitation
|July 26, 2019
PubMed
Summary
This summary is machine-generated.

Rett syndrome health issues persist into adulthood, with no significant age-related decline observed in older females. Continuous clinical monitoring is crucial for managing these ongoing health concerns.

Keywords:
Rett syndromeadulthoodageingclinical managementmorbidity

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Rett syndrome is a rare neurodevelopmental disorder primarily affecting females.
  • Understanding the long-term health trajectory and specific medical issues in adult females with Rett syndrome is critical.

Purpose of the Study:

  • To investigate the prevalence and severity of key medical issues in adult females with Rett syndrome.
  • To compare health concerns across different age groups, with a specific focus on individuals aged 36 years and older.

Main Methods:

  • A national survey involving 85 females with Rett syndrome, categorized into younger (1-20 years), middle (21-35 years), and older (36-66 years) age groups.
  • Data collection included clinical examinations, review of medical records, and parental interviews.
  • Prevalence and severity of scoliosis, ambulation, growth, respiration, gastrointestinal dysmotility, and epilepsy were assessed and compared.

Main Results:

  • Mean severity scores varied across age groups (11.8, 15.1, 13.7), with a significant difference noted between the younger and middle groups.
  • No other significant differences in the prevalence of major medical issues were observed between the age groups.
  • Key health issues in Rett syndrome remain a concern throughout adulthood.

Conclusions:

  • Major medical issues associated with Rett syndrome persist into adulthood.
  • Health status does not appear to significantly decline with increasing age in adult females with Rett syndrome.
  • Ongoing clinical follow-up and management are essential for adult individuals with Rett syndrome.