Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018

Shaw, Kelly A.; Maenner, Matthew J.; Bakian, Amanda V.; Bilder, Deborah A.; Durkin, Maureen S.; Furnier, Sarah M; Hughes, Michelle M.; Patrick, Mary; Pierce, Karen; Salinas, Angelica; Shenouda, Josephine; Vehorn, Alison; Warren, Zachary; Zahorodny, Walter; Constantino, John N.; DiRienzo, Monica; Esler, Amy; Fitzgerald, Robert T.; Grzybowski, Andrea; Hudson, Allison; Spivey, Margaret H; Ali, Akilah R.; Andrews, Jennifer; Baroud, Thaer; Gutierrez, Johanna; Hallas, Libby; Hall-Lande, Jennifer; Hewitt, Amy; Lee, Li‐Ching; Lopez, Maya; Mancilla, Kristen Clancy; McArthur, Dedria; Pettygrove, Sydney; Poynter, Jenny N.; Schwenk, Yvette D; Washington, Anita; Williams, Susan P.; Cogswell, Mary E.

doi:10.15585/mmwr.ss7010a1

Cited by 74 publications

(50 citation statements)

References 20 publications

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“…The number of ASD patients is increasing worldwide. In the latest report, the prevalence of ASD was reported to be 1 in 44 (2.27%) in the US (Maenner et al, 2021;Shaw et al, 2021). Nevertheless, no effective treatment has been developed to date.…”

Section: Introductionmentioning

confidence: 99%

Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

Doi

Usui

et al. 2022

Front. Mol. Neurosci.

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Recent breakthroughs in sequencing technology and technological developments have made it easier to analyze the entire human genome than ever before. In addition to disease-specific genetic mutations and chromosomal aberrations, epigenetic alterations in individuals can also be analyzed using genomics. Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) caused by genetic and/or environmental factors. More than a thousand genes associated with ASD have been identified which are known to be involved in brain development. However, it is difficult to decode the roles of ASD-associated genes without in vitro and in vivo validations, particularly in the process of brain development. In this review, we discuss genomic strategies for understanding the pathological mechanisms underlying ASD. For this purpose, we discuss ASD-associated genes and their functions, as well as analytical strategies and their strengths and weaknesses in cellular and animal models from a basic research perspective.

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Section: Introductionmentioning

confidence: 99%

Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

Doi

Usui

et al. 2022

Front. Mol. Neurosci.

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“…The cost of ASD to society is increasing worldwide and is more than $126 billion per year in the United States (1). Data from eleven sites (Arizona, Arkansas, California, Georgia, Maryland, Minnesota, Missouri, New Jersey, Tennessee, Utah, and Wisconsin) in the United States has showed that the overall ASD prevalence was 17.0 per 1,000 (one in 59) children aged 4 years (2). The rising prevalence of ASD is ascribed to complex interactions between genetic and environmental factors (3,4).…”

Section: Introductionmentioning

confidence: 99%

Alteration of peripheral cortisol and autism spectrum disorder: A meta-analysis

et al. 2022

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Cortisol is the main HPA axis hormone secreted by the adrenal cortex, and influences metabolism, cognition, and behavior. Recently, a plethora of studies have tried to confirm the correlation between peripheral cortisol and autism spectrum disorder (ASD). However, the results were controversial. We assessed the effects of peripheral cortisol on ASD in this study. The included studies were identified according to the inclusion and exclusion criteria. The pooled Hedges’ g and its 95% confidence interval were selected to evaluate the association between peripheral cortisol and ASD. Subgroup analyses, sensitivity analyses, meta-regression, and publication bias tests were also undertaken based on the obtained information. There were a total of twelve studies with 375 ASD patients and 335 controls included in our meta-analysis. Obvious heterogeneity across studies was found in the overall analysis. Peripheral cortisol levels were significantly elevated in ASD patients compared with controls in the absence of obvious heterogeneity. A single study did not influence the overall comparison results. Meta-regression analyses revealed that age and gender of the included subjects, sample size, and publication year did not moderate effects on the present results. These findings may provide us some targeted strategies to the diagnosis and treatment of ASD.

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“…Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder (NDD) identified by neurodevelopmental impairment, deficits in social communication, and repetitive patterns of behavior [ 1 ]. Published studies by the Center for Disease Control and Prevention (CDC) and the New Jersey Autism Study showed alarming rates of ASD prevalence in children, i.e., 1 in 59 nationally [ 2 ]. The high prevalence of ASD has made it essential to study the biological mechanism of, and identify predictive biomarkers for, the disorder.…”

Section: Introductionmentioning

confidence: 99%

MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

Wong

Zhou

Cao

et al. 2022

Genes

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Autism spectrum disorder (ASD) is a childhood neurodevelopmental disorder with a complex and heterogeneous genetic etiology. MicroRNA (miRNA), a class of small non-coding RNAs, could regulate ASD risk genes post-transcriptionally and affect broad molecular pathways related to ASD and associated disorders. Using whole-genome sequencing, we analyzed 272 samples in 73 families in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Families with at least one ASD patient were recruited and were further assessed for language impairment, reading impairment, and other associated phenotypes. A total of 5104 miRNA variants and 1,181,148 3′ untranslated region (3′ UTR) variants were identified in the dataset. After applying several filtering criteria, including population allele frequency, brain expression, miRNA functional regions, and inheritance patterns, we identified high-confidence variants in five brain-expressed miRNAs (targeting 326 genes) and 3′ UTR miRNA target regions of 152 genes. Some genes, such as SCP2 and UCGC, were identified in multiple families. Using Gene Ontology overrepresentation analysis and protein–protein interaction network analysis, we identified clusters of genes and pathways that are important for neurodevelopment. The miRNAs and miRNA target genes identified in this study are potentially involved in neurodevelopmental disorders and should be considered for further functional studies.

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Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018

Abstract: Problem/Condition: Autism spectrum disorder (ASD).

Cited by 74 publications

References 20 publications

Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder

Alteration of peripheral cortisol and autism spectrum disorder: A meta-analysis

MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

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