Journal
BRAIN SCIENCES
Volume 11, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/brainsci11091229
Keywords
Phelan-Mcdermid syndrome; SYNGAP1; Children's Sleep Habits Questionnaire; polysomnography
Categories
Funding
- Bridge the Gap: SYNGAP1 Education and Research Fund
- Simons Initiative for the Developing Brain
- Patrick DrakeWild Fund
- Joan and Stanford Alexander Family Foundation
- Robbins Foundation
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Neurodevelopmental disorders are often linked with sleep disturbances, particularly in genetic synaptopathies like PMD and SYNGAP1-ID. Sleep abnormalities were found to be significant in both disorders, with SYNGAP1-ID exhibiting more severe disturbances. Improved sleep is a potential focus for future clinical trials in these disorders.
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.
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