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The Environment Risk of Autism
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The Environment Risk of Autism

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (31 May 2013) | Viewed by 100551

Special Issue Editor

Dr. Raymond F. Palmer

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Guest Editor
Department of Family and Community Medicine, University of Texas Health Science Center San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA
Interests: gene/environment issues in autism spectrum disorders; individual susceptibility; biomarkers of environmental exposure; epidemiology; structural equation modeling

Special Issue Information

Dear Colleagues,

The interactions between genes and environment are now widely regarded as the most probable explanation for idiopathic autism. While genes can predispose and increase susceptibility to environmental exposures, little is known about the specific combinations of individual susceptibility and neurotoxic exposure. Indeed, the largest roadblock to investigating adverse environmental exposures has been identifying valid biomarkers of exposures that occur during critical perinatal developmental periods. While multiple genes have been identified in autism, little is known about how they interact with the environment. This special issue has a broad focus on environmental risk, however, the goal is to continue to build scientific knowledge and professional discussion on the mechanisms of how both genes and environment work together in the development of autism. Both empirical and review paper submissions are welcome, on topics relevant to the role of environment and autism.  Papers on gene/environment interaction and epigenetics are especially encouraged.

Dr. Raymond F. Palmer
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • autism
  • gene/environment interactions
  • epigenetics
  • environmental triggers

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Published Papers (7 papers)

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Research

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367 KiB  
Article
Infertility and Its Treatments in Association with Autism Spectrum Disorders: A Review and Results from the CHARGE Study
by Kristen Lyall, Alice Baker, Irva Hertz-Picciotto and Cheryl K. Walker
Int. J. Environ. Res. Public Health 2013, 10(8), 3715-3734; https://doi.org/10.3390/ijerph10083715 - 19 Aug 2013
Cited by 20 | Viewed by 8988
Abstract
Previous findings on relationships between infertility, infertility therapies, and autism spectrum disorders (ASD) have been inconsistent. The goals of this study are first, to briefly review this evidence and second, to examine infertility and its treatments in association with having a child with [...] Read more.
Previous findings on relationships between infertility, infertility therapies, and autism spectrum disorders (ASD) have been inconsistent. The goals of this study are first, to briefly review this evidence and second, to examine infertility and its treatments in association with having a child with ASD in newly analyzed data. In review, we identified 14 studies published as of May 2013 investigating infertility and/or its treatments and ASD. Overall, prior results showed little support for a strong association, though some increases in risk with specific treatments were found; many limitations were noted. In new analyses of the CHildhood Autism Risk from Genetics and the Environment (CHARGE) population-based study, cases with autism spectrum disorder (ASD, n = 513) and controls confirmed to have typical development (n = 388) were compared with regard to frequencies of infertility diagnoses and treatments overall and by type. Infertility diagnoses and treatments were also grouped to explore potential underlying pathways. Logistic regression was used to obtain crude and adjusted odds ratios overall and, in secondary analyses, stratified by maternal age (≥35 years) and diagnostic subgroups. No differences in infertility, infertility treatments, or hypothesized underlying pathways were found between cases and controls in crude or adjusted analyses. Numbers were small for rarer therapies and in subgroup analyses; thus the potential for modest associations in specific subsets cannot be ruled out. However, converging evidence from this and other studies suggests that assisted reproductive technology is not a strong independent risk factor for ASD. Recommendations for future studies of this topic are provided. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)
637 KiB  
Article
Incinerator Pollution and Child Development in the Taiwan Birth Cohort Study
by For-Wey Lung, Tung-Liang Chiang, Shio-Jean Lin and Bih-Ching Shu
Int. J. Environ. Res. Public Health 2013, 10(6), 2241-2257; https://doi.org/10.3390/ijerph10062241 - 31 May 2013
Cited by 5 | Viewed by 7953
Abstract
This study aimed to investigate the direct and indirect effects of environmental pollutants on child development and parental concerns. It focused on the pathway relationships among the following factors: living within three kilometers of an incinerator, breastfeeding, place of residence, parental concerns about [...] Read more.
This study aimed to investigate the direct and indirect effects of environmental pollutants on child development and parental concerns. It focused on the pathway relationships among the following factors: living within three kilometers of an incinerator, breastfeeding, place of residence, parental concerns about development, and parent-perceived child development. The Taiwan Birth Cohort Study (TBCS) dataset includes randomized community data on 21,248 children at six, 18, and 36 months of age. The Parental Concern Checklist and the Taiwan Birth Cohort Study-Developmental Instrument were used to measure parental concern and parent-perceived child development. Living within three kilometers of an incinerator increased the risk of children showing delayed development in the gross motor domain at six and 36 months. Although breastfeeding is a protective factor against uneven/delayed developmental disability (U/DDD), children living near an incinerator who were breastfed had an increased risk of U/DDD compared with those who did not live near incinerators. The presence of a local incinerator affected parent-perceived child development directly and indirectly through the mediating factor of breastfeeding. Further follow-up of these children to investigate the long-term effects of specific toxins on their development and later diagnostic categorization is necessary. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)
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289 KiB  
Article
Hair Toxic Metal Concentrations and Autism Spectrum Disorder Severity in Young Children
by David A. Geier, Janet K. Kern, Paul G. King, Lisa K. Sykes and Mark R. Geier
Int. J. Environ. Res. Public Health 2012, 9(12), 4486-4497; https://doi.org/10.3390/ijerph9124486 - 6 Dec 2012
Cited by 71 | Viewed by 25630
Abstract
Previous studies have found a higher body-burden of toxic metals, particularly mercury (Hg), among subjects diagnosed with an autism spectrum disorder (ASD) in comparison to neurotypical controls. Moreover, Hg body-burden was associated with ASD severity. This cross-sectional study examined the potential correlation between [...] Read more.
Previous studies have found a higher body-burden of toxic metals, particularly mercury (Hg), among subjects diagnosed with an autism spectrum disorder (ASD) in comparison to neurotypical controls. Moreover, Hg body-burden was associated with ASD severity. This cross-sectional study examined the potential correlation between hair toxic metal concentrations and ASD severity in a prospective cohort of participants diagnosed with moderate to severe ASD. The Institutional Review Board at the University of Texas Southwestern Medical Center at Dallas (Dallas, TX) approved the present study. Qualifying study participants (n = 18) were evaluated for ASD severity using the Childhood Autism Rating Scale (CARS) and quantitatively for arsenic, Hg, cadmium, lead, chromium, cobalt, nickel, aluminum, tin, uranium, and manganese using hair toxic element testing by Doctor’s Data (a CLIA-approved laboratory). CARS scoring and hair toxic element testing were blinded to one another. Increasing hair Hg concentrations significantly correlated with increased ASD severity. In contrast, no significant correlations were observed between any other of the hair toxic metals examined and ASD severity. This study helps to provide additional mechanistic support for Hg in the etiology of ASD severity, and is supported by an increasing number of recent critical reviews that provide biological plausibility for the role of Hg exposure in the pathogenesis of ASDs. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)
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Review

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1250 KiB  
Review
Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs)
by Hiroshi Yasuda and Toyoharu Tsutsui
Int. J. Environ. Res. Public Health 2013, 10(11), 6027-6043; https://doi.org/10.3390/ijerph10116027 - 11 Nov 2013
Cited by 72 | Viewed by 11754
Abstract
The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children [...] Read more.
The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0–15 years-old), and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7%) and 347 (17.6%) were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0–3 years-old. In contrast, 339 (17.2%), 168 (8.5%) and 94 (4.8%) individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0–3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor “infantile window” is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)
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156 KiB  
Review
Epigenetic Findings in Autism: New Perspectives for Therapy
by Dario Siniscalco, Alessandra Cirillo, James Jeffrey Bradstreet and Nicola Antonucci
Int. J. Environ. Res. Public Health 2013, 10(9), 4261-4273; https://doi.org/10.3390/ijerph10094261 - 11 Sep 2013
Cited by 54 | Viewed by 18704
Abstract
Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, communications, restricted interests, and repetitive stereotypic behaviors. Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. However, accumulating [...] Read more.
Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by dysfunctions in social interactions, communications, restricted interests, and repetitive stereotypic behaviors. Despite extensive genetic and biological research, significant controversy surrounds our understanding of the specific mechanisms of their pathogenesis. However, accumulating evidence points to the involvement of epigenetic modifications as foundational in creating ASD pathophysiology. Epigenetic modifications or the alteration of DNA transcription via variations in DNA methylation and histone modifications but without alterations in the DNA sequence, affect gene regulation. These alterations in gene expression, obtained through DNA methylation and/or histone modifications, result from transcriptional regulatory influences of environmental factors, such as nutritional deficiencies, various toxicants, immunological effects, and pharmaceuticals. As such these effects are epigenetic regulators which determine the final biochemistry and physiology of the individual. In contrast to psychopharmacological interventions, bettering our understanding of how these gene-environmental interactions create autistic symptoms should facilitate the development of therapeutic targeting of gene expression for ASD biomedical care. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)
280 KiB  
Review
The Dynamics of Autism Spectrum Disorders: How Neurotoxic Compounds and Neurotransmitters Interact
by Ilona Quaak, Madeleine R. Brouns and Margot Van de Bor
Int. J. Environ. Res. Public Health 2013, 10(8), 3384-3408; https://doi.org/10.3390/ijerph10083384 - 6 Aug 2013
Cited by 69 | Viewed by 10938
Abstract
In recent years concern has risen about the increasing prevalence of Autism Spectrum Disorders (ASD). Accumulating evidence shows that exposure to neurotoxic compounds is related to ASD. Neurotransmitters might play a key role, as research has indicated a connection between neurotoxic compounds, neurotransmitters [...] Read more.
In recent years concern has risen about the increasing prevalence of Autism Spectrum Disorders (ASD). Accumulating evidence shows that exposure to neurotoxic compounds is related to ASD. Neurotransmitters might play a key role, as research has indicated a connection between neurotoxic compounds, neurotransmitters and ASD. In the current review a literature overview with respect to neurotoxic exposure and the effects on neurotransmitter systems is presented. The aim was to identify mechanisms and related factors which together might result in ASD. The literature reported in the current review supports the hypothesis that exposure to neurotoxic compounds can lead to alterations in the GABAergic, glutamatergic, serotonergic and dopaminergic system which have been related to ASD in previous work. However, in several studies findings were reported that are not supportive of this hypothesis. Other factors also might be related, possibly altering the mechanisms at work, such as time and length of exposure as well as dose of the compound. Future research should focus on identifying the pathway through which these factors interact with exposure to neurotoxic compounds making use of human studies. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)

Other

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721 KiB  
Concept Paper
Proposed Toxic and Hypoxic Impairment of a Brainstem Locus in Autism
by Woody R. McGinnis, Tapan Audhya and Stephen M. Edelson
Int. J. Environ. Res. Public Health 2013, 10(12), 6955-7000; https://doi.org/10.3390/ijerph10126955 - 11 Dec 2013
Cited by 7 | Viewed by 15808
Abstract
Electrophysiological findings implicate site-specific impairment of the nucleus tractus solitarius (NTS) in autism. This invites hypothetical consideration of a large role for this small brainstem structure as the basis for seemingly disjointed behavioral and somatic features of autism. The NTS is the brain’s [...] Read more.
Electrophysiological findings implicate site-specific impairment of the nucleus tractus solitarius (NTS) in autism. This invites hypothetical consideration of a large role for this small brainstem structure as the basis for seemingly disjointed behavioral and somatic features of autism. The NTS is the brain’s point of entry for visceral afference, its relay for vagal reflexes, and its integration center for autonomic control of circulatory, immunological, gastrointestinal, and laryngeal function. The NTS facilitates normal cerebrovascular perfusion, and is the seminal point for an ascending noradrenergic system that modulates many complex behaviors. Microvascular configuration predisposes the NTS to focal hypoxia. A subregion—the “pNTS”—permits exposure to all blood-borne neurotoxins, including those that do not readily transit the blood-brain barrier. Impairment of acetylcholinesterase (mercury and cadmium cations, nitrates/nitrites, organophosphates, monosodium glutamate), competition for hemoglobin (carbon monoxide, nitrates/nitrites), and higher blood viscosity (net systemic oxidative stress) are suggested to potentiate microcirculatory insufficiency of the NTS, and thus autism. Full article
(This article belongs to the Special Issue The Environment Risk of Autism)
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