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Sleep, Behavior, and Adaptive Function in KAT6A Syndrome.

Clay Smith1, Jacqueline Harris1

  • 1Kennedy Krieger Institute, Baltimore, MD 21205, USA.

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|August 27, 2021
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Summary
This summary is machine-generated.

KAT6A syndrome significantly impacts adaptive functioning and sleep, with most individuals experiencing severe challenges. This research highlights the critical need for targeted support and sleep interventions for those with this rare genetic disorder.

Keywords:
KAT6Abehaviorepigeneticssleep

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Epigenetics

Background:

  • KAT6A syndrome is a rare Mendelian disorder affecting epigenetic machinery.
  • It is characterized by intellectual disability and severe expressive language impairment.

Purpose of the Study:

  • To further characterize the behavioral and sleep phenotypes in KAT6A syndrome.
  • To assess adaptive functioning and identify potential genotype-phenotype correlations.

Main Methods:

  • Utilized parental reports from 26 participants (ages 3-35) with KAT6A syndrome.
  • Employed the Adaptive Behavior Assessment System version 3 (ABAS-3), Achenbach Child or Adult Behavior Checklist (CBCL/ABCL), and a Modified Simonds and Parraga Sleep Questionnaire (MSPSQ).

Main Results:

  • Participants exhibited extremely low scores across all adaptive functioning domains on the ABAS-3.
  • Sleep was highly dysfunctional, with a high prevalence of sleep problems, medication use, and treatment seeking, independent of sleep apnea.
  • Behavioral issues were reported at very low rates on the CBCL/ABCL.

Conclusions:

  • KAT6A syndrome presents with significant deficits in adaptive functioning and profound sleep disturbances.
  • Sleep problems in KAT6A syndrome appear largely unrelated to sleep-disordered breathing.
  • The findings underscore the necessity for comprehensive support for adaptive skills and specialized attention to sleep behaviors in KAT6A syndrome management.