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Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency

Alyson E Hanish1,2,3,4, Joan C Han1,5,6,7

  • 11 Unit on Metabolism and Neuroendocrinology, Section on Growth and Obesity, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

Biological Research for Nursing
|January 19, 2018
PubMed

Insights

Adolescents with PAX6 haploinsufficiency (PAX6+/-) showed longer sleep onset times compared to healthy peers, despite similar self-reported sleep quality. This suggests subtle sleep disturbances in PAX6+/- individuals warrant further investigation.

Area of Science:

  • Genetics
  • Neuroscience
  • Sleep Medicine

Background:

  • PAX6 haploinsufficiency (PAX6+/-) is linked to developmental disorders and may affect pineal development, impacting circadian rhythms.
  • Adolescents with PAX6+/- may be more susceptible to sleep-wake disturbances due to the gene's role in circadian regulation.

Purpose of the Study:

  • To investigate sleep-related phenotypes in adolescents with PAX6+/-.
  • To compare sleep patterns and quality between adolescents with and without PAX6+/-.

Main Methods:

  • Observational study comparing nine adolescents with PAX6+/- (ages 10-19) to 25 healthy adolescents (ages 10-18).
  • Utilized the Cleveland Adolescent Sleepiness Questionnaire (CASQ) and PROMIS Sleep Disturbance/Impairment questionnaires.
  • Employed actigraphy for seven nights to objectively measure sleep patterns.

Main Results:

  • No significant differences were found in total CASQ, PROMIS sleep impairment, or PROMIS sleep disturbance scores between groups.
  • Actigraphy revealed significantly longer time from lights off to sleep onset in the PAX6+/- group (20.1 min) compared to the healthy group (6.2 min), p = .04.

Conclusions:

  • While subjective sleep measures were similar, objective actigraphy data indicate delayed sleep onset in adolescents with PAX6+/-.
  • Overall sleep deprivation in both groups may have obscured more pronounced differences.
  • Understanding these genotype-phenotype correlations can inform future management strategies for sleep issues in affected adolescents.
Abstract

Keywords:
CASQPAX6PROMISactigraphyadolescencesleep

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