Sleep complaints in individuals with SYNGAP1-associated syndrome

Author(s):Show less -

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

• Document type: Journal article
• Source: Sleep Medicine; v. 126, p. 8-pg., 2024-12-28.

Abstract

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)

• FAPESP's process: 21/09089-0 - High throughput genomic edition to investigate neurodevelopmental disorders using isogenic cellular models
• Grantee: Mariana Moysés Oliveira
• Support Opportunities: Research Grants - Young Investigators Grants
• FAPESP's process: 20/13467-8 - The relationship between obstructive sleep apnea and its comorbidities with the intestinal microbiome: interface with sexuality and reproductive function
• Grantee: Monica Levy Andersen
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 24/05023-3 - Analysis of the molecular profile of in vitro neuronal models of rare neurodevelopmental syndromes associated with the GRIN2A gene
• Grantee: Pedro Antonio Esteves Guerreiro
• Support Opportunities: Scholarships in Brazil - Master
• FAPESP's process: 23/14935-3 - Analysis of genetic editing and expansion efficiency on isogenic cellular models subjected to CRISPR/Cas9 methodologies
• Grantee: Lais Amanda de Souza Cunha
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• FAPESP's process: 23/09760-0 - Identification of molecular profiles in the rare genetic syndrome associated with SYNGAP1 in isogenic neuronal models
• Grantee: Amanda Cristina Mosini
• Support Opportunities: Scholarships in Brazil - Support Program for Fixating Young Doctors