ArticleMolecular autism2021
Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.
Article in Molecular autism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- Review
- The interplay between genomic copy number variants, sleep, and cognition in the general population.Translational psychiatry · 2025Article
- Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain.American journal of human genetics · 2024Article
- Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome.Journal of neurodevelopmental disorders · 2024Article
- Spindle chirp and other sleep oscillatory features in young children with autism.Sleep medicine · 2024Article
- A Thalamocortical Perspective on Sleep Spindle Alterations in Neurodevelopmental Disorders.Current sleep medicine reports · 2024Review
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies.Diseases (Basel, Switzerland) · 2023Review
- The Influence of Sleep Disorders on Neurobiological Structures and Cognitive Processes in Pediatric Population with ASD and Epilepsy: A Systematic Review.European journal of investigation in health, psychology and education · 2023Review
- Spindle Chirp and other Sleep Oscillatory Features in Young Children with Autism.bioRxiv : the preprint server for biology · 2023Article
- Are sleep disturbances a cause or consequence of autism spectrum disorder?Psychiatry and clinical neurosciences · 2023Article
- Editorial: Dissociations between neural activity and conscious state: a key to understanding consciousness.Frontiers in human neuroscience · 2023Article
- Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics.Communications biology · 2022Article
- Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances.Translational psychiatry · 2022Article
- Evaluation of electroencephalography biomarkers for Angelman syndrome during overnight sleep.Autism research : official journal of the International Society for Autism Research · 2022Article
- Electroencephalographic abnormalities and clinical phenotypes in children with autism spectrum disorder: a single center cohort study.Frontiers in neurologyArticle
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11 authors.
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Abstract
backgroundSleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. Genes in the 15q region, particularly UBE3A and a cluster of GABA
methodsTo test the hypothesis that elevated beta oscillations persist in sleep in Dup15q syndrome and that NREM sleep rhythms would be disrupted, we computed: (1) beta power, (2) spindle density, and (3) percentage of slow-wave sleep (SWS) in overnight sleep EEG recordings from a cohort of children with Dup15q syndrome (n = 15) and compared them to age-matched neurotypical children (n = 12).
resultsChildren with Dup15q syndrome showed abnormal sleep physiology with elevated beta power, reduced spindle density, and reduced or absent SWS compared to age-matched neurotypical controls. LIMITATIONS: This study relied on clinical EEG where sleep staging was not available. However, considering that clinical polysomnograms are challenging to collect in this population, the ability to quantify these biomarkers on clinical EEG-routinely ordered for epilepsy monitoring-opens the door for larger-scale studies. While comparable to other human studies in rare genetic disorders, a larger sample would allow for examination of the role of seizure severity, medications, and developmental age that may impact sleep physiology.
conclusionsWe have identified three quantitative EEG biomarkers of sleep disruption in Dup15q syndrome, a genetic condition highly penetrant for ASD. Insights from this study not only promote a greater mechanistic understanding of the pathophysiology defining Dup15q syndrome, but also lay the foundation for studies that investigate the association between sleep and cognition. Abnormal sleep physiology may undermine healthy cognitive development and may serve as a quantifiable and modifiable target for behavioral and pharmacological interventions.
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