Mosini Amanda Cristina, Moysés-Oliveira Mariana, Goes de Araujo Jessica Nayara, Guerreiro Pedro, Cunha Lais, Zamariolli Malú, Xavier Sandra Doria, Balbueno Bianca, Berlim de Mello Claudia, Moreira Gustavo Antonio, Andersen Monica L, Tufik Sergio
Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil.
Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil.
Sleep Med. 2025 Feb;126:282-289. doi: 10.1016/j.sleep.2024.12.026. Epub 2024 Dec 19.
Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations. This study explored sleep behaviors in children with SYNGAP1-associated syndrome, using the Children's Sleep Habit Questionnaire and the Sleep Disturbance Scale for Children, comparing results with neurotypical controls matched for age and sex. The cohort included 23 individuals with confirmed SYNGAP1 mutations. Results indicated that 78.3 % of participants had epilepsy, often resistant to treatment. Neurodivergent individuals had significantly higher sleep disturbance scores than neurotypical peers, exhibiting increased bedtime resistance, longer sleep durations, and more frequent night awakenings. Additionally, neurodivergent children showed a greater need for parental presence to fall asleep and struggled with sleeping away from home. Neurodivergents' caregivers reported poor sleep quality, emphasizing the complex dynamics of caregiving in these situations. The study highlights the urgent need for targeted interventions to enhance sleep quality for affected children and their caregivers, underscoring the critical link between neurodevelopmental disorders and sleep disturbances.
神经发育障碍给非典型脑发育带来了重大临床挑战，常表现为学习障碍、发育迟缓、智力缺陷、行为问题、癫痫和睡眠障碍。在遗传性神经精神疾病中，突触病因其对突触功能的影响而显著，导致各种神经精神表型。其中，SYNGAP1相关综合征的特征是智力残疾、全面发育迟缓、自闭症和癫痫，主要是由于功能丧失突变。本研究使用儿童睡眠习惯问卷和儿童睡眠障碍量表，对与年龄和性别匹配的神经典型对照进行比较，探讨了SYNGAP1相关综合征儿童的睡眠行为。该队列包括23名确诊为SYNGAP1突变的个体。结果表明，78.3%的参与者患有癫痫，且往往对治疗耐药。神经发育异常个体的睡眠障碍得分显著高于神经典型同龄人，表现出更高的就寝时间抗拒、更长的睡眠时间和更频繁夜间醒来。此外，神经发育异常儿童在入睡时更需要父母陪伴，并且离家睡觉时会有困难。神经发育异常儿童的照顾者报告睡眠质量较差，强调了这些情况下照顾的复杂动态。该研究强调迫切需要有针对性的干预措施来提高受影响儿童及其照顾者的睡眠质量，突出了神经发育障碍与睡眠障碍之间的关键联系。
