Cited by 1,127Autism Spectrum Disorder ResearchChild Nutrition and Feeding IssuesGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 114 of the 120 references it cites were found in a registry or an index; none of the 122 sources its claims cite is checked for support yet.

Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation

Open access
Hodges, Holly, Fealko, Casey, Soares, Neelkamal·2020·Translational Pediatrics

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and the presence of restricted interests and repetitive behaviors. There have been recent concerns about increased prevalence, and this article seeks to elaborate on factors that may influence prevalence rates, including recent changes to the diagnostic criteria. The authors review evidence that ASD is a neurobiological disorder influenced by both genetic and environmental factors affecting the developing brain, and enumerate factors that correlate with ASD risk. Finally, the article describes how clinical evaluation begins with developmental screening, followed by referral for a definitive diagnosis, and provides guidance on screening for comorbid conditions.

Overview

AI snapshot

Written from the paper’s full text.

TL;DR

ASD is a neurodevelopmental disorder defined by social communication deficits and restricted/repetitive behaviors, with DSM-5 criteria shifting to a dyad and likely affecting prevalence estimates. The review summarizes epidemiology, genetic/environmental risk correlates, and clinical evaluation, concluding no single causal pathway or biomarker exists.

Key findings

  • DSM-5 combined DSM-IV pervasive developmental disorder diagnoses into one ASD spectrum, moved from a triad to a dyad, added sensory symptoms and severity descriptors; a systematic review suggests only 50%–75% of individuals maintain diagnoses, though one study found 91% identified by parental report, and most studies suggest increased specificity with decreased sensitivity.
  • WHO estimates global ASD prevalence at 0.76%, but this accounts for only ~16% of the global child population; CDC estimates 1.68% of US 8-year-olds (1 in 59), US parent-reported diagnoses averaged 2.5% in 2016, and US prevalence more than doubled between 2000–2002 and 2010–2012 before appearing to stabilize from 2014 to 2016 with no statistically significant increase.
  • Male-to-female ratio is closer to 3:1 than 4:1 in a recent meta-analysis not using DSM-5 criteria; co-occurring conditions are common, including 83% with an additional developmental diagnosis, 10% at least one psychiatric diagnosis, 16% at least one neurologic diagnosis, intellectual disability at 31.0% (26.7%–39.4%), epilepsy ~20%, GI disorders 10–12%, sleep problems 50%–73%, overweight/obesity ~33%/18%, ADHD 25%–81%, and pooled adult anxiety/depression at 42%/37%.
  • ASD is neurobiological with genetic and environmental influences, but no single unifying cause has been elucidated; over 700 genes have been implicated, and there is no evidence that vaccines, thimerosal, or mercury is associated with ASD, with the largest Danish cohort finding no increased MMR risk. Prenatal valproic acid and thalidomide increase risk, folic acid may reduce risk in antiepileptic-exposed pregnancies, and advanced parental age and prematurity are risk factors.

Methods

  • Narrative review of ASD definition, epidemiology, causes, and clinical evaluation; no primary data collection or systematic search strategy is described.
  • Synthesizes published literature, meta-analyses, surveillance data, and professional guidelines (e.g., AAP, ACMGG) rather than conducting new analyses.
  • Main analysis is narrative synthesis of cited evidence; no formal meta-analysis or primary statistical modeling performed by the authors is reported.

Limitations

  • Stated: no single unifying cause or causal determinations; meta-analysis of pre/peri/postnatal risk factors showed significant heterogeneity preventing true determination; no clear ASD biomarkers or diagnostic measures exist.
  • Stated: WHO prevalence estimate covers only ~16% of the global child population; changing diagnostic criteria may impact prevalence and the full DSM-5 impact remains unknown.
  • Evident: as a narrative review without described systematic search or quality appraisal, conclusions depend on selected cited studies; some cited estimates predate DSM-5 or use non-DSM-5 criteria, and co-occurring condition rates vary by definition or measurement tool.

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Integrity signals

Registry

Crossref · 10.21037/tp.2019.09.09

Cites

114 of 114 references verified0 citation errors · 0 not checkable

Statistics

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Verification

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Metadata

Authors
Hodges, H., Fealko, C., & Soares, N.
Affiliations
  • Baylor College of Medicine (US)
  • Western Michigan University (US)
Corresponding author
Soares, Neelkamal
Venue
Translational Pediatrics
Published
2020-02
Volume
9
Issue
S1
Pages
S55-S65
ISSN
  • 2224-4336 (ISSN-L)
  • 2224-4344
OpenAlex
W2981275956
Cited by
1,127
References
120
Citations by year
2026: 223 · 2025: 283 · 2024: 235 · 2023: 201 · 2022: 114 · 2021: 55 · 2020: 14
FWCI
12.80
Type
journal article
Language
en
Open access
Licence
cc-by-nc-nd
Locations
  • Translational Pediatrics (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Medicine › Psychiatry and Mental health › Child Nutrition and Feeding Issues
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
autism spectrum disorder, prevalence, diagnostic criteria, genetic factors, environmental risk factors, neurodevelopmental disorders, social communication deficits, restricted and repetitive behaviors, developmental screening, diagnosis, comorbidity screening

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