Sleep Problems in Children with ASD and Gene Disrupting Mutations

The Journal of Genetic Psychology, Journal Year: 2021, Volume and Issue: 182(5), P. 317 - 334

Published: May 17, 2021

Sleep difficulties are pervasive in autism spectrum disorder (ASD), yet how sleep problems relate to underlying biological mechanisms such as genetic etiology is unclear, despite recent reports of profound children with ASD-associated de novo likely gene disrupting (dnLGD) mutations, CHD8, DYRK1A, and ADNP. We aimed inform etiological contributions ASD by characterizing individuals dnLGD mutations. Participants (N = 2886) were families who completed dichotomous questions about within a medical history interview for their child (age 3-28 years). Confirmatory factor analyses compared between those mutation idiopathic (i.e., no known event, NON) highlighted four domains (sleep onset, breathing issues, nighttime awakenings, daytime tiredness) onset strong both groups. Overall, participant predictors indicated that internalizing behavioral lower cognitive scores related increased problems. Internalizing also increase awakenings the group. As an exploratory aim, patterns issues described subgroups unique including more overall ADNP (n 19), falling asleep CHD8 22), naps DYRK1A 23). Implications considering genetically defined when approaching discussed.

Language: Английский

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A conserved role for frizzled in sleep architecture

SLEEP Advances, Journal Year: 2023, Volume and Issue: 4(1)

Published: Jan. 1, 2023

Previous studies of natural variants in Drosophila melanogaster implicated the Wnt signaling receptor frizzled sleep. Given that pathway is highly conserved across species, we hypothesized class 1 (Fzd1), murine homolog frizzled, would also have a role Using CRISPR transgenic approach, removed most Fzd1 coding region from C57BL/6N mice. We used video assay to measure sleep characteristics Fzd1-deficient As known affect visuospatial memory, examined impact deletion on learning and memory using novel object recognition (NOR) paradigm. mice had altered compared littermate controls. The did not respond differently NOR paradigm controls but display anxiety-like behavior. Our strategy demonstrates study variation translates into candidate genes for vertebrate species such as mouse.

Language: Английский

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Neurofibromin 1 regulates early developmental sleep in Drosophila

Neurobiology of Sleep and Circadian Rhythms, Journal Year: 2023, Volume and Issue: 15, P. 100101 - 100101

Published: Aug. 9, 2023

Sleep disturbances are common in neurodevelopmental disorders, but knowledge of molecular factors that govern sleep young animals is lacking. Evidence across species, including

Language: Английский

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Leveraging clinical sleep data across multiple pediatric cohorts for insights into neurodevelopment: the Retrospective Analysis of Sleep in Pediatric (RASP) cohorts study

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 5, 2024

Abstract Sleep disturbances are prominent across neurodevelopmental disorders (NDDs) and may reflect specific abnormalities in brain development function. Overnight polysomnography (PSG) allows for detailed investigation of sleep architecture, offering a unique window into neurocircuit A better understanding NDDs compared to typically developing children could therefore define mechanisms underlying abnormal provide avenues the therapeutic interventions improve quality developmental outcomes. Here, we introduce characterize collection 1527 pediatric overnight PSGs five different sites. We first developed an automated stager trained on independent data, which yielded performance adults. Using consistent staging cohorts, derived panel EEG micro-architectural features. This unbiased approach replicated broad trajectories previously described architecture. Further, found architecture disruptions with Down’s Syndrome (DS) that were cohorts. Finally, built evaluated model predict age from metrics, recapitulated our previous findings younger predicted DS. Altogether, by creating resource pooled existing clinical data expanded available datasets computational resources study populations, specifically towards NDDs. Retrospective Analysis Pediatric (RASP) cohorts dataset, including annotation stager, will be deposited at https://sleepdata.org . Statement significance RASP polysomnographies includes disorder cases. As step addressing analytic bottleneck inherent manual staging, validated pediatric-specific stager. Leveraging retrospective redemonstrated known To summarize changes function reflected sleep, measures. recapitulate work not only enhances NDDs, but also provides valuable future research underscores utility studies.

Language: Английский

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A Mechanical Biosensor Based on Magnetic-Mediated Sensitization for 5-Ht Detection

Published: Jan. 1, 2024

The real-time detection of neurotransmitters had attracted more attention due to the potential provide vital information for pathology research, disease diagnosis, and clinical efficacy evaluation. Here, a magnetic-mediated biosensor was developed improve sensitivity serotonin (5-HT). PDMS membrane doped with magnetic particles serves as conversion element, enhancing deformation thin film caused by surface stress under action field amplifying resistance response signal biosensor. 5-HT associated neurotransmitter diseases serve proof concept revealing sensitization. limit decreased 3.21 nM in linear range 5-500 nM, which lower than that without field. samples were also been accurately detected, indicating positive application as-prepared All these results reveal high practicality new method diagnosis.

Language: Английский

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