Sleep and circadian disturbances in children with neurodevelopmental disorders

Nature Reviews Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 8, 2025

Language: Английский

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Altered motor learning and coordination in mouse models of autism spectrum disorder

Frontiers in Cellular Neuroscience, Journal Year: 2023, Volume and Issue: 17

Published: Nov. 8, 2023

Autism spectrum disorder (ASD) is a complex neurodevelopmental with increasing prevalence. Over 1,000 risk genes have now been implicated in ASD, suggesting diverse etiology. However, the diagnostic criteria for still comprise two major behavioral domains - deficits social communication and interaction, presence of restricted repetitive patterns behavior (RRBs). The RRBs associated ASD include both stereotyped movements other motor manifestations including changes gait, balance, coordination, skill learning. In recent years, striatum, primary input center basal ganglia, has these ASD-associated behaviors, due to striatum’s role action selection, learning, habit formation. Numerous mouse models mutations developed shown alterations ASD-relevant behaviors. One commonly used assay, accelerating rotarod, allows assessment basic coordination this corticostriatal-dependent task, mice walk on rotating rod that gradually increases speed. extended version engage striatal-dependent learning mechanisms optimize their routine stay longer periods. This review summarizes findings studies examining rotarod performance across range models, resulting implications involvement striatal circuits ASD-related While task not uniform there cohort show increased performance. A growing number suggest propensity learn fixed may reflect common enhancement corticostriatal drive subset ASD-risk genes.

Language: Английский

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Mouse population genetics phenocopies heterogeneity of human Chd8 haploinsufficiency

Neuron, Journal Year: 2023, Volume and Issue: 111(4), P. 539 - 556.e5

Published: Feb. 1, 2023

Preclinical models of neurodevelopmental disorders typically use single inbred mouse strains, which fail to capture the genetic diversity and symptom heterogeneity that is common clinically. We tested whether modeling background in reference panels would recapitulate population individual differences responses a syndromic mutation high-confidence autism risk gene, CHD8. measured clinically relevant phenotypes >1,000 mice from 33 including brain body weights cognition, activity, anxiety, social behaviors, using 5 behavioral assays: cued fear conditioning, open field tests dark bright light, direct interaction, dominance. Trait disruptions mimicked those seen clinically, with robust strain sex differences. Some strains exhibited large effect-size trait disruptions, sometimes opposite directions, and-remarkably-others expressed resilience. Therefore, systematically introducing into provides better framework for discovering etiologies.

Language: Английский

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Intestinal Amino Acid Transport and Metabolic Health

Annual Review of Nutrition, Journal Year: 2023, Volume and Issue: 43(1), P. 73 - 99

Published: June 7, 2023

Amino acids derived from protein digestion are important nutrients for the growth and maintenance of organisms. Approximately half 20 proteinogenic amino can be synthesized by mammalian organisms, while other essential must acquired nutrition. Absorption is mediated a set acid transporters together with transport di- tripeptides. They provide systemic needs enterocyte metabolism. largely complete at end small intestine. The large intestine mediates uptake bacterial metabolism endogenous sources. Lack peptide transporter delays absorption changes sensing usage This affect metabolic health through restriction, acids, production antimicrobial peptides.

Language: Английский

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MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons

Neuron, Journal Year: 2024, Volume and Issue: 112(12), P. 1943 - 1958.e10

Published: May 1, 2024

Language: Английский

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New advances in the diagnosis and treatment of autism spectrum disorders

European journal of medical research, Journal Year: 2024, Volume and Issue: 29(1)

Published: June 10, 2024

Language: Английский

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Modeling Autism Spectrum Disorders with Induced Pluripotent Stem Cell-Derived Brain Organoids

Biomolecules, Journal Year: 2023, Volume and Issue: 13(2), P. 260 - 260

Published: Jan. 30, 2023

Autism spectrum disorders (ASD) are a group of complex neurodevelopmental that affect communication and social interactions present with restricted interests repetitive behavior patterns. The susceptibility to ASD is strongly influenced by genetic/heritable factors; however, there still large gap in understanding the cellular molecular mechanisms underlying neurobiology ASD. Significant progress has been made identifying risk genes possible convergent pathways regulated these gene networks during development. breakthrough reprogramming technology allowed generation induced pluripotent stem cells (iPSCs) from individuals syndromic idiopathic ASD, providing patient-specific cell models for mechanistic studies. In past decade, protocols developing brain organoids have established, leading significant advances vitro reproducibility early steps human Here, we reviewed most relevant literature regarding application study current state art, discussing impact such on field, limitations, opportunities future

Language: Английский

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CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate

Cell Discovery, Journal Year: 2023, Volume and Issue: 9(1)

Published: March 7, 2023

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that affects social interaction and behavior. Mutations in the gene encoding chromodomain helicase DNA-binding protein 8 (CHD8) lead to autism symptoms macrocephaly by haploinsufficiency mechanism. However, studies of small animal models showed inconsistent findings about mechanisms for CHD8 deficiency-mediated macrocephaly. Using nonhuman primate as model system, we found CRISPR/Cas9-mediated mutations embryos cynomolgus monkeys led increased gliogenesis cause monkeys. Disrupting fetal monkey brain prior number glial cells newborn Moreover, knocking down via CRISPR/Cas9 organotypic slices from also enhanced proliferation cells. Our suggest critical size primates abnormal may contribute ASD.

Language: Английский

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LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes

Scientific Reports, Journal Year: 2022, Volume and Issue: 12(1)

Published: Aug. 17, 2022

Abstract Long interspersed nucleotide element-1 (LINE-1) and Alu elements are retrotransposons whose abilities cause abnormal gene expression genomic instability. Several studies have focused on DNA methylation profiling of regions, but the locus-specific LINE-1 has not been identified in autism spectrum disorder (ASD). Here we interrogated locus- family-specific profiles ASD whole blood using publicly-available Illumina Infinium 450 K datasets from heterogeneous variants ( Chromodomain Helicase DNA-binding 8 CHD8 ) 16p11.2del). Total repetitive were notably hypomethylated exclusively with variants. Methylation alteration a manner including L1P, L1H, HAL, AluJ , AluS families observed Moreover, within target genes is inversely related to level each variant. The signatures blood, as well their associations ASD-related genes, identified. If confirmed future larger studies, these findings may contribute identification epigenomic biomarkers ASD.

Language: Английский

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AI-based non-invasive imaging technologies for early autism spectrum disorder diagnosis: A short review and future directions

Artificial Intelligence in Medicine, Journal Year: 2025, Volume and Issue: 161, P. 103074 - 103074

Published: Jan. 31, 2025

Language: Английский

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