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Updated: May 20, 2025

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
08:41

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

Published on: December 27, 2024

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Sleep-related problems and sleep disorders in ataxia telangiectasia

Pınar Yavuz1, Erhan Özel1, İzzet Erdal2

  • 1Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Ankara, Türkiye.

Sleep Medicine
|April 28, 2025
PubMed

Insights

Children with Ataxia telangiectasia (AT) experience significantly higher rates of sleep disturbances and problems compared to healthy children. Early screening for sleep issues is recommended for AT patients, even without reported symptoms.

Area of Science:

  • Pediatric Neurology
  • Sleep Medicine
  • Genetics and Rare Diseases

Background:

  • Ataxia telangiectasia (AT) is a rare, inherited neurodegenerative disorder.
  • Sleep disturbances are common in neurodegenerative conditions, but specific data for AT are limited.

Purpose of the Study:

  • To investigate sleep-related problems in children with AT.
  • To correlate sleep issues with the clinical status of AT patients.

Main Methods:

  • Administered the Children's Sleep Habits Questionnaire and Sleep Disturbance Scale for Children.
  • Compared 46 AT patients with 92 age- and gender-matched healthy controls (HC).
  • Classified AT patients into mild and moderate/severe clinical subgroups.

Main Results:

  • AT patients showed higher frequencies of sleep disturbances (60% vs 25%) and sleep problems (80% vs 50%) than HC.
  • AT patients were 4.5 times more likely to have sleep disturbances and 6 times more likely to have sleep problems.
  • Sleep problems decreased with age in HC, but only partially in AT; sleep disturbances did not decrease with age in AT.

Conclusions:

  • Sleep architecture, behavior, and habits are likely disturbed in AT patients.
  • Routine sleep screening is recommended for AT patients, regardless of reported symptoms.
  • Further research is needed to develop AT-specific sleep screening tools for neurodegenerative diseases.
Abstract

Keywords:
Ataxia-telangiectasiaCerebellumChildsleep disturbancesleep habitssleep problems

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