Sleep complaints in individuals with SYNGAP1-associated syndrome

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Mosini, Amanda Cristina ; Moyses-Oliveira, Mariana ; de Araujo, Jessica Nayara Goes ; Guerreiro, Pedro ; Cunha, Lais ; Zamariolli, Malu ; Xavier, Sandra Doria ; Balbueno, Bianca ; de Mello, Claudia Berlim ; Moreira, Gustavo Antonio ; Andersen, Monica L. ; Tufik, Sergio

• Tipo de documento: Artigo Científico
• Fonte: Sleep Medicine; v. 126, p. 8-pg., 2024-12-28.

Resumo

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. (AU)

• Processo FAPESP: 21/09089-0 - Edição genética em larga escala para o estudo de doenças do neurodesenvolvimento em modelos celulares isogênicos
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