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Outcome of Sleep Rehabilitation in Autistic Children with Sleep Disorders Is Linked to Melatonin Receptor Genes SNPs

Elisabetta Bolognesi1, Alessandra Carta2, Franca Rosa Guerini1

  • 1IRCCS Fondazione Don Carlo Gnocchi ONLUS, Laboratory of Molecular Medicine and Biotechnology, 20148 Milan, Italy.

International Journal of Molecular Sciences
|June 13, 2025
PubMed

Insights

Genetic variants in melatonin receptor genes MT1 and MT2 are linked to sleep problems in children with Autism Spectrum Disorder (ASD). These single nucleotide polymorphisms (SNPs) may predict sleep disorder severity and guide tailored treatments.

Area of Science:

  • Genetics and Neuroscience
  • Pediatric Sleep Medicine
  • Autism Spectrum Disorder Research

Background:

  • Autism Spectrum Disorder (ASD) is frequently associated with sleep disturbances, impacting quality of life.
  • Melatonin signaling, regulated by MT1 and MT2 receptors, plays a crucial role in sleep-wake cycles.
  • Understanding the genetic underpinnings of sleep issues in ASD is vital for developing effective interventions.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the MT1 and MT2 melatonin receptor genes and Autism Spectrum Disorder (ASD).
  • To determine if these genetic variants correlate with ASD susceptibility, clinical severity, and specific sleep problems.
  • To evaluate the predictive value of these SNPs for treatment outcomes in children with ASD and sleep disturbances.

Main Methods:

  • Genotyping of six SNPs in MT1 and MT2 genes in 139 ASD children, 82 siblings, and 53 healthy controls of Sardinian ancestry.
  • Assessment of sleep problems using the Sleep Disturbance Scale for Children (SDSC).
  • Correlation analysis between SNP genotypes and clinical severity/sleep problem scores (DIMS, DA, SHY), including evaluation of treatment outcomes.

Main Results:

  • The MT2 rs10830963 G allele was more prevalent in ASD children and siblings than controls.
  • SNPs rs2119882 (MT1) and rs1562444 (MT2) were associated with sleep problems like Difficulty in Falling Asleep (DIMS), Daytime Awakenings (DA), and Sleep Habits (SHY).
  • Specific alleles (rs2119882 T, rs1562444 A) correlated with higher severity scores, and homozygous carriers showed less improvement after rehabilitative treatment.

Conclusions:

  • MT1 and MT2 gene variants may serve as predictive genetic markers for sleep disorder severity in children with ASD.
  • These findings suggest a potential genetic basis for sleep disturbances in ASD, influencing treatment response.
  • Personalized rehabilitative strategies targeting sleep issues in ASD could be informed by these genetic insights.

Keywords:
SDSC scaleautismmelatonin receptor MT2melatonin receptors MT1sleep disorders

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