| Texto completo | |
| Autor(es): Mostrar menos - |
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
Número total de Autores: 12
|
| 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 |
| Beneficiário: | Mariana Moysés Oliveira |
| Modalidade de apoio: | Auxílio à Pesquisa - Jovens Pesquisadores |
| Processo FAPESP: | 20/13467-8 - Relação da apneia obstrutiva do sono e suas comorbidades com a microbiota intestinal: interface com sexualidade e função reprodutiva |
| Beneficiário: | Monica Levy Andersen |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |
| Processo FAPESP: | 24/05023-3 - Análise do perfil molecular de modelos neuronais in vitro de síndromes raras do neurodesenvolvimento associadas ao gene GRIN2A |
| Beneficiário: | Pedro Antonio Esteves Guerreiro |
| Modalidade de apoio: | Bolsas no Brasil - Mestrado |
| Processo FAPESP: | 23/14935-3 - Análise de eficiência de edição genética e de expansão das linhagens de modelos celulares isogênicos submetidos a metodologias de CRISPR/Cas9 |
| Beneficiário: | Lais Amanda de Souza Cunha |
| Modalidade de apoio: | Bolsas no Brasil - Iniciação Científica |
| Processo FAPESP: | 23/09760-0 - Identificação de perfis moleculares na síndrome genética rara associada a SYNGAP1 em modelos neuronais isogênicos |
| Beneficiário: | Amanda Cristina Mosini |
| Modalidade de apoio: | Bolsas no Brasil - Programa Fixação de Jovens Doutores |