Sleep complaints in individuals with SYNGAP1-associated syndrome.

Autor: Mosini AC; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Moysés-Oliveira M; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Goes de Araujo JN; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil., Guerreiro P; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Cunha L; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Zamariolli M; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil., Xavier SD; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Balbueno B; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil., Berlim de Mello C; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Moreira GA; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Andersen ML; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Tufik S; Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: sergio.tufik@afip.com.br.
Jazyk: angličtina
Zdroj: Sleep medicine [Sleep Med] 2024 Dec 19; Vol. 126, pp. 282-289. Date of Electronic Publication: 2024 Dec 19.
DOI: 10.1016/j.sleep.2024.12.026
Abstrakt: 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.
Competing Interests: Declaration of competing interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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