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Article

Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

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Division of Neurogenetics Kennedy Krieger Institute, 1741 Ashland Avenue Rm 526, Baltimore, MD 21205, USA
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Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
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Patrick Wild Centre, University of Edinburgh, Edinburgh EH8 9YL, UK
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Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, MA 02115, USA
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Division of Sleep Medicine, Harvard Medical School, Boston, MA 02115, USA
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Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital 1250 Moursund, Suite 925, Houston, TX 77030, USA
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Departments of Pediatrics and Neurology, Baylor College of Medicine, Houston, TX 77030, USA
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Authors to whom correspondence should be addressed.
Academic Editor: Michele Bellesi
Brain Sci. 2021, 11(9), 1229; https://doi.org/10.3390/brainsci11091229
Received: 11 August 2021 / Revised: 8 September 2021 / Accepted: 14 September 2021 / Published: 17 September 2021
(This article belongs to the Special Issue Neuro-Developmental Disorders: Bench-to-Bedside)
Neurodevelopmental disorders are frequently associated with sleep disturbances. One class of neurodevelopmental disorders, the genetic synaptopathies, is caused by mutations in genes encoding proteins found at the synapse. Mutations in these genes cause derangement of synapse development and function. We utilized a validated sleep instrument, Children’s Sleep Habits Questionnaire (CSHQ) to examine the nature of sleep abnormalities occurring in individuals with two synaptopathies—Phelan–McDermid syndrome (PMD) (N = 47, male = 23, female = 24, age 1–46 years) and SYNGAP1-related intellectual disability (SYNGAP1-ID) (N = 64, male = 31, female = 33, age 1–64 years), when compared with unaffected siblings (N = 61, male = 25, female = 36, age 1–17 years). We found that both PMD and SYNGAP1-ID have significant sleep abnormalities with SYNGAP1-ID having greater severity of sleep disturbance than PMD. In addition, sleep disturbances were more severe for PMD in individuals 11 years and older compared with those less than 11 years old. Individuals with either disorder were more likely to use sleep aids than unaffected siblings. In conclusion, sleep disturbances are a significant phenotype in the synaptopathies PMD and SYNGAP1-ID. Improved sleep is a viable endpoint for future clinical trials for these neurodevelopmental disorders. View Full-Text
Keywords: Phelan–Mcdermid syndrome; SYNGAP1; Children’s Sleep Habits Questionnaire; polysomnography Phelan–Mcdermid syndrome; SYNGAP1; Children’s Sleep Habits Questionnaire; polysomnography
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MDPI and ACS Style

Smith-Hicks, C.; Wright, D.; Kenny, A.; Stowe, R.C.; McCormack, M.; Stanfield, A.C.; Holder, J.L., Jr. Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome. Brain Sci. 2021, 11, 1229. https://doi.org/10.3390/brainsci11091229

AMA Style

Smith-Hicks C, Wright D, Kenny A, Stowe RC, McCormack M, Stanfield AC, Holder JL Jr. Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome. Brain Sciences. 2021; 11(9):1229. https://doi.org/10.3390/brainsci11091229

Chicago/Turabian Style

Smith-Hicks, Constance, Damien Wright, Aisling Kenny, Robert C. Stowe, Maria McCormack, Andrew C. Stanfield, and J. L. Holder Jr. 2021. "Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome" Brain Sciences 11, no. 9: 1229. https://doi.org/10.3390/brainsci11091229

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