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A novel CSNK1Dvariant in pediatric advanced sleep-wake phase syndrome

Giulia Pisanò1, Martina Gnazzo1, Miguel Miranda2

  • 1University of Modena and Reggio Emilia, Modena, Italy.

Sleep Medicine
|April 30, 2025
PubMed

Insights

Genetic factors contribute to advanced sleep-wake phase disorder (ASWPD) in children. A novel CSNK1D variant was identified in a 4-year-old girl, leading to successful chronotherapy.

Area of Science:

  • Genetics
  • Chronobiology
  • Pediatric Sleep Medicine

Background:

  • Advanced sleep-wake phase disorder (ASWPD) is a rare circadian rhythm disorder.
  • Genetic factors, especially mutations in core clock genes, are implicated in ASWPD pathogenesis.
  • Pediatric ASWPD often presents with early sleep onset and morning awakenings.

Purpose of the Study:

  • To report a case of pediatric-onset ASWPD.
  • To investigate the genetic underpinnings of the disorder in a young patient.
  • To evaluate the efficacy of chronotherapy.

Main Methods:

  • Case report of a 4-year-old girl with ASWPD.
  • Diagnostic tools included actigraphy, polysomnography, and salivary melatonin profiling.
  • Whole exome sequencing and parental segregation analysis identified genetic variants.

Main Results:

  • The patient was diagnosed with ASWPD, presenting with early awakenings and daytime sleepiness.
  • Whole exome sequencing revealed heterozygous variants in PER2 and CSNK1D.
  • Chronotherapy with bright light and melatonin improved sleep-wake patterns and daytime function.

Conclusions:

  • A novel de novo variant in CSNK1D is associated with pediatric ASWPD.
  • Genetic evaluation is crucial for early-onset circadian rhythm disorders.
  • Targeted chronotherapeutic interventions can improve outcomes in pediatric ASWPD.
Abstract

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