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Rare Research Report
RDCRN
188 episodes
2 weeks ago
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org
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All content for Rare Research Report is the property of RDCRN and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Show more...
Science
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DSC: Characterizing Key Factors that Correlate with Sleep Problems in Rare Neurodevelopmental Genetic Disorders
Rare Research Report
1 minute
3 weeks ago
DSC: Characterizing Key Factors that Correlate with Sleep Problems in Rare Neurodevelopmental Genetic Disorders
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Autism and Developmental Disorders on October 25, 2025, titled "Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders." 

Read the paper here. 

Learn more about DSC. 

Transcript: 

Neurodevelopmental genetic disorders (NGDs) are a spectrum of conditions that affect how the brain functions. Individuals with NGDs often experience sleep problems, which also affects their ability to function during the daytime. Despite these common issues, not much is known about predictors of sleep problems in NGDs.

In this study, researchers characterized key factors that correlate with sleep problems in rare NGDs. Parents of 173 individuals with rare NGDs—including PTEN hamartoma tumor syndrome, SYNGAP1, NFIX, and a mixed group of other NGDs—completed the Neurobehavioral Evaluation Tool. The team used these evaluations to characterize sleep phenotypes across disorders and examine predictors of poor sleep.

Results highlighted the elevated severity of sleep problems in NGDs, particularly in those with SYNGAP1. Predictors for each sleep problem varied, suggesting that accurate assessment and diagnosis of sleep problems—as well as evaluation of correlates of sleep difficulties—are required in order to provide targeted interventions in rare NGDs.
Rare Research Report
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org