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.

中文翻译：

---

突触病中的睡眠异常——SYNGAP1 相关智力障碍和 Phelan-McDermid 综合征

神经发育障碍通常与睡眠障碍有关。一类神经发育障碍，即遗传性突触病，是由在突触中发现的编码蛋白质的基因突变引起的。这些基因的突变导致突触发育和功能紊乱。我们使用经过验证的睡眠工具儿童睡眠习惯问卷 (CSHQ) 来检查患有两种突触 - Phelan-McDermid 综合征 (PMD)（N = 47，男性 = 23，女性 = 24，1 岁）的个体发生的睡眠异常的性质–46 岁）和SYNGAP1相关智力障碍 ( SYNGAP1 -ID)（N = 64，男性 = 31，女性 = 33，年龄 1-64 岁），与未受影响的兄弟姐妹（N = 61，男性 = 25，女性）相比= 36，年龄 1-17 岁）。我们发现 PMD 和SYNGAP1- ID 有明显的睡眠异常，SYNGAP1- ID 的睡眠障碍比 PMD 更严重。此外，与 11 岁以下的人群相比，11 岁及以上人群的 PMD 睡眠障碍更严重。患有任何一种疾病的人比未受影响的兄弟姐妹更有可能使用助眠剂。总之，睡眠障碍是突触病PMD 和SYNGAP1- ID中的一个重要表型。改善睡眠是这些神经发育障碍未来临床试验的可行终点。