Mechanisms for the Approach/Avoidance Decision Applied to Autism DOI
Donald W. Pfaff, Helen Barbas

Trends in Neurosciences, Journal Year: 2019, Volume and Issue: 42(7), P. 448 - 457

Published: June 25, 2019

Language: Английский

The contribution of environmental exposure to the etiology of autism spectrum disorder DOI Creative Commons
Sven Bölte, Sonya Girdler, Peter B. Marschik

et al.

Cellular and Molecular Life Sciences, Journal Year: 2018, Volume and Issue: 76(7), P. 1275 - 1297

Published: Dec. 20, 2018

Autism spectrum disorder (ASD) is a neurodevelopmental condition of heterogeneous etiology. While it widely recognized that genetic and environmental factors their interactions contribute to autism phenotypes, precise causal mechanisms remain poorly understood. This article reviews our current understanding risk ASD presumed adverse physiological mechanisms. It comprehensively maps the significance parental age, teratogenic compounds, perinatal risks, medication, smoking alcohol use, nutrition, vaccination, toxic exposures, as well role extreme psychosocial factors. Further, we consider potential protective such folate fatty acid intake. Evidence indicates an increased offspring vulnerability through advanced maternal paternal valproate intake, chemical exposure, diabetes, enhanced steroidogenic activity, immune activation, possibly altered zinc–copper cycles treatment with selective serotonin reuptake inhibitors. Epidemiological studies demonstrate no evidence for vaccination posing risk. concluded future research needs categorical autism, broader autistic traits, examine more homogenous variants by subgroup stratification. Our etiology could be aimed at disentangling non-causal effects, both founding moderating, gene–environment interplay using twin studies, longitudinal experimental designs. The specificity many risks remains unknown control multiple confounders has been limited. Further critical windows investigating fit hit cumulative models are likely promising approaches in enhancing ASD.

Language: Английский

Citations

420

Systematic Review of Sleep Disturbances and Circadian Sleep Desynchronization in Autism Spectrum Disorder: Toward an Integrative Model of a Self-Reinforcing Loop DOI Creative Commons
Claudia Carmassi, Laura Palagini, Danila Caruso

et al.

Frontiers in Psychiatry, Journal Year: 2019, Volume and Issue: 10

Published: June 6, 2019

Background: A compelling number of studies, conducted in both children and adults, have reported an association between sleep disturbances/circadian alterations autism spectrum disorder (ASD); however, the data are sparse nature this link is still unclear. The present review aimed to systematically collect literature relevant on disturbances circadian dysrhythmicity related ASD across all ages provide integrative theoretical framework their association. Methods: systematic MEDLINE, PubMed, Cochrane databases was from November 2018 February 2019. search strategies used were MeSH headings keywords for "sleep-wake rhythms" OR "circadian disorders" pattern" "sleep "melatonin" AND "autism disorder" "autism". Results: One hundred three studies identified, 15 regarded dysrhythmicity, 74 disturbances, 17 melatonin adults with ASD. Our findings suggested that autistic subjects frequently particular short duration, low quality/efficiency, desynchronization such as delayed phases and/or eveningness. Sleep been severity symptoms. Genetic shown polymorphisms CLOCK genes involved pathways Conclusions: frequent These clock expression production. impairment regulation may increase individual's vulnerability develop symptoms by altering toto, which plays a key role normal brain development. Even though controversies "research gaps" at point, we hypothesize bidirectional relation dysfunction In particular, predispose vice versa within self-reinforcing feedback loop. By targeting improve treatment

Language: Английский

Citations

172

Genetics and epigenetics of autism: A Review DOI Open Access
Mary Miu Yee Waye, Ho Yu Cheng

Psychiatry and Clinical Neurosciences, Journal Year: 2017, Volume and Issue: 72(4), P. 228 - 244

Published: Sept. 23, 2017

Autism is a developmental disorder that starts before age 3 years, and children with autism have impairment in both social interaction communication, restricted, repetitive, stereotyped patterns of behavior, interests, activities. There strong heritable component spectrum (ASD) as studies shown parents who child ASD 2–18% chance having second ASD. The prevalence been increasing during the last decades much research has carried out to understand etiology, so develop novel preventive treatment strategies. This review aims at summarizing latest related ASD, focusing not only on genetics but also some epigenetic findings autism/ASD. Some promising areas using transgenic/knockout animals ideas potential prevention strategies will be discussed.

Language: Английский

Citations

136

Elevated polygenic burden for autism is associated with differential DNA methylation at birth DOI Creative Commons
Eilís Hannon, Diana Schendel, Christine Ladd‐Acosta

et al.

Genome Medicine, Journal Year: 2018, Volume and Issue: 10(1)

Published: March 28, 2018

Autism spectrum disorder (ASD) is a severe neurodevelopmental characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD involves both inherited environmental risk factors, with epigenetic processes hypothesized as one mechanism which genetic non-genetic variation influence gene regulation pathogenesis. aim this study was to identify DNA methylation biomarkers detectable at birth. We quantified neonatal methylomic 1263 infants—of whom ~ 50% went on subsequently develop ASD—using isolated from archived blood spots taken shortly after used matched genotype data the same individuals examine molecular consequences ASD-associated variants, identifying associated elevated polygenic burden for ASD. In addition, we performed quantitative trait loci (mQTL) mapping prioritize target genes GWAS findings. identified robust signatures gestational age prenatal tobacco exposure, confirming utility generated spots. Although did not specific showing differences later ASD, there significant association between increased autism loci. Each unit score mean increase − 0.14% two CpG sites located proximal signal chromosome 8. This largest analysis undertaken first integrate demonstrate using disease, mQTL refine functional regulatory variants.

Language: Английский

Citations

110

Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility DOI Creative Commons
Nicolás Garrido,

Fábio C. Cruz,

Rocío Rivera‐Egea

et al.

Clinical Epigenetics, Journal Year: 2021, Volume and Issue: 13(1)

Published: Jan. 7, 2021

Autism spectrum disorder (ASD) has increased over tenfold the past several decades and appears predominantly associated with paternal transmission. Although genetics is anticipated to be a component of ASD etiology, environmental epigenetics now also thought an important factor. Epigenetic alterations, such as DNA methylation, have been correlated ASD. The current study was designed identify methylation signature in sperm potential biomarker offspring autism susceptibility.Sperm samples were obtained from fathers that children or without autism, then assessed for alterations methylation. A genome-wide analysis (> 90%) differential regions (DMRs) used DMRs (n = 13) autistic comparison those children. 805 DMR genomic features chromosomal location, CpG density length characterized. Genes identified found linked previously known genes, well other neurobiology-related genes. biomarkers/diagnostic validated blinded test sets 8-10) individuals approximately 90% accuracy.Observations demonstrate highly significant set can potentially act susceptibility. Ancestral early-life exposures alter germline are molecular etiology.

Language: Английский

Citations

61

Impact of maternal immune activation and sex on placental and fetal brain cytokine and gene expression profiles in a preclinical model of neurodevelopmental disorders DOI Creative Commons

H. Osman,

Rachel J. Moreno,

Destanie R. Rose

et al.

Journal of Neuroinflammation, Journal Year: 2024, Volume and Issue: 21(1)

Published: May 7, 2024

Maternal inflammation during gestation is associated with a later diagnosis of neurodevelopmental disorders including autism spectrum disorder (ASD). However, the specific impact maternal immune activation (MIA) on placental and fetal brain development remains insufficiently understood. This study aimed to investigate effects MIA by analyzing tissues obtained from offspring pregnant C57BL/6 dams exposed polyinosinic: polycytidylic acid (poly I: C) embryonic day 12.5. Cytokine mRNA content in placenta were assessed using multiplex cytokine assays bulk-RNA sequencing 17.5. In placenta, male exhibited higher levels GM-CSF, IL-6, TNFα, LT-α, but there no differences female offspring. Furthermore, differentially expressed genes (DEG) found be enriched processes related synaptic vesicles neuronal development. Placental both terms, whereas females also for terms excitatory inhibitory signaling. offspring, increased IL-28B IL-25 observed LT-α Notably, we identified few stable DEG, difference had DEG Overall, these findings support hypothesis that contributes sex- abnormalities ASD, possibly through altered neuron developed exposure inflammatory cytokines. Future research should aim how interactions between contribute context MIA.

Language: Английский

Citations

14

Are endocrine disrupting compounds environmental risk factors for autism spectrum disorder? DOI Creative Commons
Amer Moosa, Henry T. Shu, Tewarit Sarachana

et al.

Hormones and Behavior, Journal Year: 2017, Volume and Issue: 101, P. 13 - 21

Published: Oct. 24, 2017

Language: Английский

Citations

78

Impact of Clostridium Bacteria in Children with Autism Spectrum Disorder and Their Anthropometric Measurements DOI
Wafaa A. Kandeel, Nagwa A. Meguid, Geir Bjørklund

et al.

Journal of Molecular Neuroscience, Journal Year: 2020, Volume and Issue: 70(6), P. 897 - 907

Published: March 4, 2020

Language: Английский

Citations

53

Food selectivity and neophobia in children with autism spectrum disorder and neurotypical development: a systematic review DOI
João Victor Soares Rodrigues, Maria Clara Faria Poli,

Pedro Henrique Petrilli

et al.

Nutrition Reviews, Journal Year: 2023, Volume and Issue: 81(8), P. 1034 - 1050

Published: Jan. 12, 2023

Abstract Context Individuals with autism spectrum disorder (ASD) have common eating problems, including food refusal, dietary restrictions, and behavioral problems during eating. Objective The aim of this systematic review was to find more clear evidence on the relationship between selectivity or neophobia (FN) ASD in children up age 14 years. PECO-based question was: Are FN behaviors prevalent than neurotypical development (NTD)?, which P is children, E ASD, C NTD, O FN. Data sources Clinical studies databases PubMed, Embase Web Science, comparing those were reviewed from October 1966 2021. Study selection data extraction A total 122 analyzed for summary reading, only 17 these included descriptive qualitative analysis. In 9 studies, analysis performed via a questionnaire. Results results showed that are selective NTD. Four evaluated through scales; however, 2 found higher levels group sensory profile measured using questionnaires we altered processing ASD. Conclusion Children present greater However, occurrence 50% investigated, points need compare siblings NTD same family nucleus. addition, atypical oral sensitivity seems be characteristic most related disorders. Systematic Review Registration PROSPERO registration no. CRD42021247880.

Language: Английский

Citations

22

A Revolutionizing Approach to Autism Spectrum Disorder Using the Microbiome DOI Open Access
Dinyadarshini Johnson, Vengadesh Letchumanan,

Sivakumar Thurairajasingam

et al.

Nutrients, Journal Year: 2020, Volume and Issue: 12(7), P. 1983 - 1983

Published: July 3, 2020

The study of human microbiota and health has emerged as one the ubiquitous research pursuits in recent decades which certainly warrants attention both researchers clinicians. Many conditions have been linked to gut is largest reservoir microbes body. Autism spectrum disorder (ASD) neurodevelopmental disorders extensively explored relation microbiome. utilization microbial knowledge promises a more integrative perspective understanding this disorder, albeit being an emerging field research. More interestingly, oral vaginal microbiomes, indicating possible maternal influence, equally drawn their potential roles etiopathology ASD. Therefore, review attempts integrate microbiome its significance ASD including hypothetical aetiology commonly associated comorbidities. microbiota-based interventions diet, prebiotics, probiotics, antibiotics, faecal transplant (FMT) also Of these, diet probiotics are seemingly promising breakthrough context for lesser known side effects, feasibility easier administration, although studies needed ascertain actual clinical efficacy these interventions. existing gaps call expanded resolute efforts establishing relationship between autism microbiomes.

Language: Английский

Citations

49