Related Experiment Video
Updated: Feb 11, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Leveraging clinical sleep data across multiple pediatric cohorts for insights into neurodevelopment: the
Naihua N Gong1, Aditya Mahat2, Samya Ahmad2
1Department of Psychiatry, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Insights
This study introduces a large dataset of pediatric sleep studies (polysomnography) and a new automated tool for sleep analysis. Findings reveal sleep disruptions in children with Down syndrome, offering insights into neurodevelopmental disorders.
Area of Science:
- Neuroscience
- Pediatric Sleep Medicine
- Computational Biology
Background:
- Sleep disturbances are common in neurodevelopmental disorders (NDDs), impacting brain development and function.
- Overnight polysomnography (PSG) provides detailed sleep architecture analysis, crucial for understanding neurocircuitry.
- Analyzing existing pediatric PSGs can improve understanding of NDD mechanisms.
Purpose of the Study:
- To create and characterize a large, retrospective dataset of pediatric overnight PSG recordings.
- To develop and validate a pediatric-specific automated sleep staging tool.
- To investigate sleep architecture in neurodevelopmental disorders and predict brain age from sleep metrics.
Main Methods:
- Compiled 1527 clinical pediatric overnight PSGs from five sites.
- Developed a pediatric-specific automated sleep stager, outperforming adult-trained models.
- Derived EEG micro-architectural features and built a brain age prediction model.
Main Results:
- The automated stager achieved high performance on pediatric data.
- Sleep architecture disruptions were consistently observed in children with Down syndrome (DS).
- A brain age model predicted younger brain age in children with DS, consistent with prior findings.
Conclusions:
- The Retrospective Analysis of Sleep (RASP) cohorts dataset and automated stager provide valuable resources for pediatric sleep research.
- This work highlights the utility of clinical PSG data for studying sleep in NDDs.
- Findings deepen the understanding of sleep abnormalities in NDDs, particularly Down syndrome.
Abstract:
Sleep disturbances are prominent across neurodevelopmental disorders (NDDs) and may reflect specific abnormalities in brain development and function. Overnight polysomnography (PSG) allows for detailed investigation of sleep architecture, offering a unique window into neurocircuit function. Analysis of existing pediatric PSGs from clinical studies could enhance the availability of sleep studies in pediatric patients with NDDs towards a better understanding of mechanisms underlying abnormal development in NDDs. Here, we introduce and characterize a retrospective collection of 1527 clinical pediatric overnight PSGs across five different sites. We first developed an automated stager trained on independent pediatric sleep data, which yielded better performance compared to a generic stager trained primarily on adults. Using consistent staging across cohorts, we derived a panel of electroencephalography (EEG) micro-architectural features. This unbiased approach replicated broad trajectories previously described in typically developing sleep architecture. Further, we found sleep architecture disruptions in children with Down's syndrome (DS) that were consistent across independent cohorts. Finally, we built and evaluated a model to predict age from sleep EEG metrics, which recapitulated our previous findings of younger predicted brain age in children with DS. Altogether, by creating a resource pooled from existing clinical data we expanded the available datasets and computational resources to study sleep in pediatric populations, specifically towards a better understanding of sleep in NDDs. This Retrospective Analysis of Sleep in Pediatric cohorts dataset, including staging annotation derived from our automated stager is deposited at https://sleepdata.org/datasets/rasp. Statement of Significance We introduce the Retrospective Analysis of Sleep (RASP) cohorts, a collection of 1527 clinical pediatric overnight polysomnographies that includes typically developing and neurodevelopmental disorder cases. As a first step towards addressing the analytic bottleneck inherent in manual sleep staging, we developed and validated a pediatric-specific sleep stager. Leveraging the retrospective RASP cohort's dataset, we redemonstrated known developmental trajectories in sleep architecture. To summarize changes in brain function reflected in sleep, we developed a model to predict brain age from sleep measures. We recapitulate younger predicted age in RASP Down's syndrome cases. This valuable resource underscores the utility of existing clinical polysomnography studies for studying sleep disturbances in pediatric neurodevelopmental disorders populations.
Related Concept Videos
Insufficient Sleep and Sleep Deprivation
Sleep deprivation is a more severe form of sleep loss...
Stages of Sleep
Before sleep begins, in wakefulness, the brain exhibits primarily beta waves, which are high in frequency and low in amplitude, indicating alertness...
Understanding Sleep
The circadian rhythm, a nearly 24-hour cycle, is deeply influenced by environmental light cues. Light exposure directly affects the hypothalamus, which in turn regulates...
Sleep Apnea
The condition is more prevalent among...
Sleepwalking and Sleep Talking
Factors that increase the likelihood of sleepwalking include sleep deprivation and alcohol consumption. Contrary to common beliefs, it is safe...
Substance Use Disorders Affecting Sleep
Understanding the concepts of physical dependence,...

