From Genes to Environment: Using Integrative Genomics to Build a “Systems-Level” Understanding of Autism Spectrum Disorders
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Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders that affect an estimated 1 in 110 individuals. Although there is a strong genetic component associated with these disorders, this review focuses on the multifactorial nature of ASD and how different genome-wide (genomic) approaches contribute to our understanding of autism. Emphasis is placed on the need to study defined ASD phenotypes as well as to integrate large-scale “omics” data in order to develop a “systems-level” perspective of ASD, which in turn is necessary to allow predictions regarding responses to specific perturbations and interventions.
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Autism, as with other psychiatric disorders, is diagnosed by clustering observable symptoms rather than by causal pathways.
“autism, like other psychiatric disorders, is diagnosed based on observable symptom clustering, not causal pathways”
From Environmental Chemical Exposures and Autism Spectrum Disorders: A Review of the Epidemiological Evidence (2014) · cites this paper as [167]
Because of etiological heterogeneity, diagnostic categories may be poorly suited to causal research.
“diagnostic definitions may not be ideal for causal research, a phenomena termed “etiological heterogeneity.”165–167”
From Environmental Chemical Exposures and Autism Spectrum Disorders: A Review of the Epidemiological Evidence (2014) · cites this paper as [167]
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Self-citationMECP2 promoter methylation and X chromosome inactivation in autism
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Sleep in children with autism spectrum disorders
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome
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Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder
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A risk‐factor model of epistatic interaction, focusing on autism
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New tools for functional genomic analysis
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Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
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Sleep in children with autism spectrum disorders
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Flagged first, then by citations
Research works printed but not linked: 1
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Immune Dysregulation in Autism Spectrum Disorder: What Do We Know about It?
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From early markers to neuro-developmental mechanisms of autism
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“The great majority of published findings from infant at-risk studies have focused on isolated measures predicting later outcome.”
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Are endocrine disrupting compounds environmental risk factors for autism spectrum disorder?
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“A uthor M anuscript A uthor M anuscript A uthor M anuscript A uthor M anuscript identified by genetics and functional analyses (Sarachana and Hu, 2013).”
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BackgroundPolychlorinated Biphenyls (PCBs): Risk Factors for Autism Spectrum Disorder?
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Autism Spectrum Disorder from the Womb to Adulthood: Suggestions for a Paradigm Shift
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“Though many candidate gene-disease associations were suggested, molecular investigations have yet to identify a consistent association of ASD with biological markers [20].”
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Are caesarean sections, induced labor and oxytocin regulation linked to Autism Spectrum Disorders?
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The contribution of epigenetics to understanding genetic factors in autism
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“Although epigenetic mechanisms involved in autism are not well understood, there is good evidence for genome-wide methylation dysregulation in ASD (Melnyk et al., 2012), indicating that methylation is likely a significant contributor to the development of autism (Hu, 2013).”
BackgroundGenome-Wide Association Studies of Autism
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A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework
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Classification of Behaviorally Defined Disorders: Biology Versus the DSM
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“Miller and Rockstroh (2013), among others, credit research on endophenotypes for helping bring back biology into psychiatry and foster the development of animal models of human behavior.”
BackgroundThe Expanding Genomic Landscape of Autism: Discovering the ‘Forest‘ Beyond the ‘Trees‘
Hu, V. W. (2012) · Future Neurology · doi:10.2217/fnl.12.83 · Cited by 23 · see citing works
“, identifying differentially expressed genes that may be dysregulated by aberrant methylation), as well as the use of peripheral tissues as surrogate experimental models for a neurological disorder in an integrative ‘systems’ approach toward understanding the underlying pathobiology of ASDs, as described in more detai…”
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“While these and other familial and/or twin studies (Hu, 2013; Mehta & Geschwind, 2014) clearly demonstrate the role that genetics plays in the development of ASD, the lack of perfect heritability indicates that environmental factors play a role in determining Author for correspondence: Suzanne King, Department of Psyc…”
InfluentialOverview of the Role of Environmental Factors in Neurodevelopmental Disorders
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Introduction to the Special Section on Genomics
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From Data to Insights: Machine Learning Empowers Prognostic Biomarker Prediction in Autism
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- Authors
- Hu, V. W.
- Affiliations
- George Washington University (US)
- Corresponding author
- Hu, Valerie W
- ORCID
- Hu, Valerie W
- Venue
- Child Development
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-01-01
- Volume
- 84
- Issue
- 1
- Pages
- 89-103
- ISSN
- 0009-3920 (ISSN-L)
- 1467-8624
- PMC
- PMC3402607
- OpenAlex
- W1531164380
- Cited by
- 45
- References
- 121
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 2 · 2020: 4 · 2019: 2 · 2018: 5 · 2017: 3 · 2016: 3 · 2015: 4 · 2014: 9 · 2013: 3 · 2012: 1
- FWCI
- 0.43
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Child Development (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS2381)
- National Institute of Mental Health (R21MH073393)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- autism spectrum disorder, integrative genomics, systems biology, neurodevelopmental disorders, genome-wide association study, multi-omics integration, genetic and environmental factors
- MeSH terms
- Child, Child Development Disorders, Pervasive, Environment, Humans, Neural Pathways, Phenotype, Gonadal Steroid Hormones, DNA Methylation, Genetic Predisposition to Disease, Gene Expression Profiling, Genomics, MicroRNAs, Genome-Wide Association Study, Nuclear Receptor Subfamily 1, Group F, Member 1, Transcriptome
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