1. Adibsereshki N, Nesayan A, Asadi Gandomani R, Karimlou M. {{The Effectiveness of Theory of Mind Training On the Social Skills of Children with High Functioning Autism Spectrum Disorders}}. {Iran J Child Neurol};2015 (Summer);9(3):40-49.
OBJECTIVE: Children with Autism Spectrum Disorders (ASD) tend to have problems in establishing and maintaining their social relationships. Some professionals believe this social impairment is the result of deficit in Theory of Mind (ToM). This study was conducted to explore the effectiveness of ToM training on such children. MATERIALS & METHODS: A quasi-experimental method, pre- test, post-test with control group was used. The sample included of 12 girls and 12 boys with High Functioning Autism Spectrum Disorders (HFASD). Two instruments were used as follows: the Theory of Mind test and the social skills questionnaire (1). The samples were randomly placed in the experimental and control groups. The experimental groups had 15 sessions of ToM training and the control groups had just regular school program. RESULTS: The data were analyzed by Kolmogorov-Smirnov, independent t- and twoway- variance tests. The scores for social skills in the experimental group were significantly more than the control group. CONCLUSION: ToM training might improve the social skills of children with autism spectrum disorders.
2. Chen FC, Tsai CL. {{A light fingertip touch reduces postural sway in children with autism spectrum disorders}}. {Gait Posture};2015 (Sep 25)
This study examined the effects of a light fingertip touch on postural control in children with autism spectrum disorders (ASD) and typically developing children (TDC). METHODS: We recruited 16 children with ASD (age=11.041+/-1.275), and 16 TDC (age=10.966+/-1.166 years). A force platform measured postural sway in the anteroposterior (AP) and mediolateral (ML) directions under light fingertip touch (LT) and no touch (NT) conditions, with both eyes open (EO) and both eyes closed (EC). As a summary of the experimental conditions, ML sway was significantly greater in the ASD group than in the TDC group. Also, results showed a significant reduction in postural sway in the ML direction in the LT condition compared with the NT condition. These effects applied to both the EO and EC conditions. Lastly, the reduction in ML sway between the NT and LT conditions was significantly greater in the ASD than the TDC group. CONCLUSION: The effects of a light fingertip touch on reducing postural sway appear more efficient in children with ASD compared with TDC. These findings suggest that a light fingertip touch may be of clinical and practical importance, and provides a useful means of enhancing postural stability in children with ASD.
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3. Devriese J, Dhar M, Walleghem D, van West D. {{[Hallucinations and obsessive behaviour in an infant with autism spectrum disorder: diagnostic problems]}}. {Tijdschr Psychiatr};2015;57(8):608-612.
Regular non-medical treatment of a 6-year-old female patient with autism spectrum disorder failed due to comorbid compulsions and hallucinations. Differential diagnosis included obsessive-compulsive disorder and psychosis. The patient’s young age complicated accurate diagnosis and management. In this case we opted for a diagnostic follow-up, resulting in treatment with a selective serotonin reuptake inhibitor because of the patient’s frequent compulsions. This reduced the symptoms significantly.
4. Gunes H, Tanidir C, Erdogan A. {{Effective Use of Aripiprazole Augmentation in a Clozapine-Treated Adolescent with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2015 (Sep 24)
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5. Holmes LG, Himle MB, Strassberg DS. {{Parental romantic expectations and parent-child sexuality communication in autism spectrum disorders}}. {Autism};2015 (Sep 25)
This study examined the relationship between core symptoms of autism spectrum disorder, parental romantic expectations, and parental provision of sexuality and relationship education in an online sample of 190 parents of youth 12-18 years of age with a parent-reported diagnosis of autism spectrum disorder. Regression analyses were conducted separately for youth with autism spectrum disorder + parent-reported average or above IQ and youth with autism spectrum disorder + parent-reported below average IQ. For youth with autism spectrum disorder + parent-reported average or above IQ, autism spectrum disorder severity predicted parental romantic expectations, but not parental provision of sexuality and relationship education. For youth with autism spectrum disorder + parent-reported below average IQ, parental romantic expectations mediated the relationship between autism spectrum disorder severity and parent provision of sexuality and relationship education. This supports the importance of carefully considering intellectual functioning in autism spectrum disorder sexuality research and suggests that acknowledging and addressing parent expectations may be important for parent-focused sexuality and relationship education interventions.
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6. Hui Z, Yongchao Z, Yongqing Z. {{Recent progresses in molecular genetics of autism spectrum disorders}}. {Yi Chuan};2015 (Sep 20);37(9):845-854.
Autism spectrum disorders (ASDs) are common neurodevelopmental disorders characterized by impaired social communication, restricted and repetitive behavior or interests. Over the past 40 years, the reported prevalence for ASDs has been steadily rising world-wide. Due to the application of large-scale exome sequencing in recent years, hundreds of novel ASD associated genes have been identified. These associated genes are enriched in several common genetic signaling pathways such as synapse formation and chromatin remodeling. Intensive studies in animal models have revealed abnormal synaptic plasticity and an imbalanced ratio of excitatory to inhibitory neurotransmission in neural circuits of ASD brains. In this review, we summarize recent advances in (1) genetic heterogeneity of ASDs, (2) molecular pathways disturbed by various genetic mutations in ASDs, and (3) the development of genetic diagnostics and pharmacological treatments for ASDs. This review aims to provide a brief overview of the genetic basis of ASDs and prospects for diagnosis and treatment for ASDs.
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7. Iossifov I, Levy D, Allen J, Ye K, Ronemus M, Lee YH, Yamrom B, Wigler M. {{Low load for disruptive mutations in autism genes and their biased transmission}}. {Proc Natl Acad Sci U S A};2015 (Sep 23)
We previously computed that genes with de novo (DN) likely gene-disruptive (LGD) mutations in children with autism spectrum disorders (ASD) have high vulnerability: disruptive mutations in many of these genes, the vulnerable autism genes, will have a high likelihood of resulting in ASD. Because individuals with ASD have lower fecundity, such mutations in autism genes would be under strong negative selection pressure. An immediate prediction is that these genes will have a lower LGD load than typical genes in the human gene pool. We confirm this hypothesis in an explicit test by measuring the load of disruptive mutations in whole-exome sequence databases from two cohorts. We use information about mutational load to show that lower and higher intelligence quotients (IQ) affected individuals can be distinguished by the mutational load in their respective gene targets, as well as to help prioritize gene targets by their likelihood of being autism genes. Moreover, we demonstrate that transmission of rare disruptions in genes with a lower LGD load occurs more often to affected offspring; we show transmission originates most often from the mother, and transmission of such variants is seen more often in offspring with lower IQ. A surprising proportion of transmission of these rare events comes from genes expressed in the embryonic brain that show sharply reduced expression shortly after birth.
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8. Ishikawa N, Watanabe G, Tarui T, Kiuchi R, Ohtake H, Tomita S, Kawachi K. {{Two-Port Robotic Cardiac Surgery (TROCS) for Atrial Septal Defect (ASD) Using Cross-Arm Technique- TROCS ASD Repair}}. {Circ J};2015 (Sep 25);79(10):2271-2273.
BACKGROUND: We successfully performed totally endoscopic atrial septal defect (ASD) repair via 2 ports, and we named this procedure two-port robotic cardiac surgery (TROCS).Methods and Results:A 51-year-old woman with secundum ASD underwent robot-assisted ASD repair under ventricle fibrillation without aortic cross-clamping. Two ports were placed in the right side of the chest, and 1 port was for the robotic endoscope. Two robotic instruments were inserted through another port and crossed while preventing them from colliding. CONCLUSIONS: TROCS ASD repair using a cross-arm technique was achieved safely with good clinical results and excellent cosmetic results. (Circ J 2015; 79: 2271-2273).
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9. Jou RJ, Reed HE, Kaiser MD, Voos AC, Volkmar FR, Pelphrey KA. {{White Matter Abnormalities in Autism and Unaffected Siblings}}. {J Neuropsychiatry Clin Neurosci};2015 (Sep 25):appineuropsych15050109.
This study was conducted to identify a potential neuroendophenotype for autism using diffusion tensor imaging. Whole-brain, voxel-based analysis of fractional anisotropy was conducted in 50 children: 19 with autism, 20 unaffected siblings, and 11 controls. Relative to controls, participants with autism exhibited bilateral reductions in fractional anisotropy across association, commissure, and projection fibers. The most severely affected tracts included the uncinate fasciculus, forceps minor, and inferior fronto-occipital fasciculus. Unaffected siblings also exhibited reductions in fractional anisotropy, albeit less severe with fewer affected tracts, sparing the uncinate fasciculus and forceps minor. These results suggest the presence of a neuroendophenotype for autism.
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10. Jure R, Pogonza R, Rapin I. {{Autism Spectrum Disorders (ASD) in Blind Children: Very High Prevalence, Potentially Better Outlook}}. {J Autism Dev Disord};2015 (Sep 25)
Autism spectrum disorders affected 19 of 38 unselected children at a school for the blind in Cordoba, Argentina. Autism was linked to total congenital blindness, not blindness’ etiology, acquired or incomplete blindness, sex, overt brain damage, or socioeconomic status. Autism « recovery, » had occurred in 4 verbal children. Congenital blindness causes profoundly deviant sensory experience and massive reorganization of brain connectivity. Its >/=30 times greater prevalence than in sighted children suggests a distinct pathogenesis. Unawareness of autism’s high prevalence in blind individuals includes blindness’ rarity, misunderstanding of autism as « disease » rather than dimensional behavioral diagnosis, reluctance to diagnose it in blind children, and ignorance of its potentially more favorable outcome. Future investigation may suggest interventions to prevent or mitigate it.
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11. Kazdoba TM, Leach PT, Crawley JN. {{Behavioral Phenotypes of Genetic Mouse Models of Autism}}. {Genes Brain Behav};2015 (Sep 25)
More than a hundred de novo single gene mutations and copy number variants have been implicated in autism, each occurring in a small subset of cases. Mutant mouse models with syntenic mutations offer research tools to gain an understanding of the role of each gene in modulating biological and behavioral phenotypes relevant to autism. Knockout, knockin and transgenic mice incorporating risk gene mutations detected in autism spectrum disorder and comorbid neurodevelopmental disorders are now widely available. At present, autism spectrum disorder is diagnosed solely by behavioral criteria. We developed a constellation of mouse behavioral assays designed to maximize face validity to the types of social deficits and repetitive behaviors that are central to an autism diagnosis. Mouse behavioral assays for associated symptoms of autism, which include cognitive inflexibility, anxiety, hyperactivity, and unusual reactivity to sensory stimuli, are frequently included in the phenotypic analyses. Over the past ten years, we and many other laboratories around the world have employed these and additional behavioral tests to phenotype a large number of mutant mouse models of autism. In this review, we highlight mouse models with mutations in genes that have been identified as risk genes for autism, which work through synaptic mechanisms and through the mTOR signaling pathway. Robust, replicated autism-relevant behavioral outcomes in a genetic mouse model lend credence to a causal role for specific gene contributions and downstream biological mechanisms in the etiology of autism.
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12. Mahfouz A, Ziats MN, Rennert OM, Lelieveldt BP, Reinders MJ. {{Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome}}. {J Mol Neurosci};2015 (Sep 23)
Autism spectrum disorder (ASD) is a neurodevelopmental syndrome known to have a significant but complex genetic etiology. Hundreds of diverse genes have been implicated in ASD; yet understanding how many genes, each with disparate function, can all be linked to a single clinical phenotype remains unclear. We hypothesized that understanding functional relationships between autism candidate genes during normal human brain development may provide convergent mechanistic insight into the genetic heterogeneity of ASD. We analyzed the co-expression relationships of 455 genes previously implicated in autism using the BrainSpan human transcriptome database, across 16 anatomical brain regions spanning prenatal life through adulthood. We discovered modules of ASD candidate genes with biologically relevant temporal co-expression dynamics, which were enriched for functional ontologies related to synaptogenesis, apoptosis, and GABA-ergic neurons. Furthermore, we also constructed co-expression networks from the entire transcriptome and found that ASD candidate genes were enriched in modules related to mitochondrial function, protein translation, and ubiquitination. Hub genes central to these ASD-enriched modules were further identified, and their functions supported these ontological findings. Overall, our multi-dimensional co-expression analysis of ASD candidate genes in the normal developing human brain suggests the heterogeneous set of ASD candidates share transcriptional networks related to synapse formation and elimination, protein turnover, and mitochondrial function.
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13. Malgaz M, van Kesteren CF, Sommer IE. {{[Auditory verbal hallucinations in an adult with autism spectrum disorder]}}. {Tijdschr Psychiatr};2015;57(9):684-687.
Auditory verbal hallucinations (avh) are known to occur in relative isolation in various psychiatric disorders and as well in autism spectrum disorder (ASD). Up till now, research into the occurrence of auditory verbal hallucinations in patients who have a psychiatric disorder and ASD has been very limited. In order to give some indication about the effects of such a combination in one individual, we present a case-description of a 37-year-old man diagnosed with both pervasive developmental disorder – not otherwise specified (pdd-nos) and a mild intellectual disability. He was treated at the specialised outpatient ‘Voices Clinic’ of the University Hospital in Utrecht umc. The patient responsed well treatment.
14. Plesa Skwerer D, Jordan SE, Brukilacchio BH, Tager-Flusberg H. {{Comparing methods for assessing receptive language skills in minimally verbal children and adolescents with autism spectrum disorders}}. {Autism};2015 (Sep 25)
This research addresses the challenges of assessing receptive language abilities in minimally verbal children with autism spectrum disorder by comparing several adapted measurement tools: a standardized direct assessment of receptive vocabulary (i.e. Peabody Picture Vocabulary Test-4); caregiver report measures including scores on the Vineland-II Communication domain and a vocabulary questionnaire consisting of a list of words ranging from simple, developmentally early, to more advanced words expected to be understood by at least some older children and adolescents; an eye-tracking test of word comprehension, using a word-image pair matching paradigm similar to that often used in studies of infant language acquisition; and a computerized assessment using a touch screen for directly measuring word comprehension with the same stimuli used in the eye-tracking experiment. Results of this multiple-method approach revealed significant heterogeneity in receptive language abilities across participants and across assessment methods. Our findings underscore the need to find individualized approaches for capturing the potential for language comprehension of minimally verbal children with autism spectrum disorder who remain otherwise untestable, using several types of assessment that may include methods based on eye-tracking or touch-screen responding.
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15. Qi X, Zaroff CM, Bernardo AB. {{Autism spectrum disorder etiology: Lay beliefs and the role of cultural values and social axioms}}. {Autism};2015 (Sep 25)
Recent research examining the explanations given by the public (i.e. lay beliefs) for autism spectrum disorder often reveals a reasonably accurate understanding of the biogenetic basis of the disorder. However, lay beliefs often manifest aspects of culture, and much of this work has been conducted in western cultures. In this study, 215 undergraduate university students in Macau, a Special Administrative Region of China, completed self-report measures assessing two beliefs concerning autism spectrum disorder etiology: (1) a belief in parental factors and (2) a belief in genetic factors. Potential correlates of lay beliefs were sought in culture-specific values, and more universal social axioms. Participants were significantly more likely to endorse parenting, relative to genetic factors, as etiological. A perceived parental etiology was predicted by values of mind-body holism. Beliefs in a parental etiology were not predicted by values assessing collectivism, conformity to norms, a belief in a family’s ability to obtain recognition through a child’s achievement, or interpersonal harmony, nor by the social axioms measured (e.g. social cynicism, reward for application, social complexity, fate control, and religiosity). Beliefs in a genetic etiology were not predicted by either culture-specific values or social axioms. Implications of the current results are discussed.
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16. Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. {{Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci}}. {Neuron};2015 (Sep 23);87(6):1215-1233.
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR </= 0.1).
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17. Scheeren AM, Banerjee R, Koot HM, Begeer S. {{Self-Presentation and the Role of Perspective Taking and Social Motivation in Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Sep 25)
We compared self-presentation abilities of 132 children and adolescents with autism spectrum disorders (ASD) to those of 41 typically developing (TD) peers, and examined the potential link with their social motivation and perspective taking. Participants introduced themselves to an interviewer in a baseline condition (without incentive) and a self-promotion condition (with incentive). Children with ASD (6-12 years) were just as likely as or even more likely than TD children to highlight personal characteristics that would increase their chances of obtaining the incentive. Thus, they were strategic in their self-presentation. However, adolescents with ASD (12-19 years) were less strategic than TD adolescents as well as children with ASD. We discuss the role of social motivation and perspective taking in children’s self-presentation.
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18. Schmidt L, Kirchner J, Strunz S, Brozus J, Ritter K, Roepke S, Dziobek I. {{Psychosocial Functioning and Life Satisfaction in Adults With Autism Spectrum Disorder Without Intellectual Impairment}}. {J Clin Psychol};2015 (Sep 25)
OBJECTIVES: This study aimed at (a) comparing psychosocial functioning and life satisfaction in adults with autism spectrum disorder (ASD) and nonclinical participants and (b) identifying areas of functioning that are most predictive for life satisfaction in individuals with ASD. METHOD: A total of 43 adults with ASD without intellectual impairment (age: mean = 31, standard deviation = 10 years; 63% females) and healthy nonclinical individuals (N = 44) were surveyed. RESULTS: Individuals with ASD reported significant functional impairments and less life satisfaction compared with nonclinical individuals in many areas of life. Although impairments were prominent in domains involving interaction with other people such as understanding and communication, getting along with others, and participation in society, daily living skills (e.g., getting around, self-care, and household) were not different from nonclinical participants. Participating in society was identified as the only factor predicting life satisfaction in individuals with ASD. CONCLUSION: There is a need for interventions facilitating functioning on a broad level and support toward societal inclusion for individuals with ASD.
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19. Stevenson RA, Segers M, Ferber S, Barense MD, Camarata S, Wallace MT. {{Keeping time in the brain: Autism spectrum disorder and audiovisual temporal processing}}. {Autism Res};2015 (Sep 24)
A growing area of interest and relevance in the study of autism spectrum disorder (ASD) focuses on the relationship between multisensory temporal function and the behavioral, perceptual, and cognitive impairments observed in ASD. Atypical sensory processing is becoming increasingly recognized as a core component of autism, with evidence of atypical processing across a number of sensory modalities. These deviations from typical processing underscore the value of interpreting ASD within a multisensory framework. Furthermore, converging evidence illustrates that these differences in audiovisual processing may be specifically related to temporal processing. This review seeks to bridge the connection between temporal processing and audiovisual perception, and to elaborate on emerging data showing differences in audiovisual temporal function in autism. We also discuss the consequence of such changes, the specific impact on the processing of different classes of audiovisual stimuli (e.g. speech vs. nonspeech, etc.), and the presumptive brain processes and networks underlying audiovisual temporal integration. Finally, possible downstream behavioral implications, and possible remediation strategies are outlined. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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20. Virk J, Liew Z, Olsen J, Nohr EA, Catov JM, Ritz B. {{Preconceptional and prenatal supplementary folic acid and multivitamin intake and autism spectrum disorders}}. {Autism};2015 (Sep 25)
OBJECTIVE: To evaluate whether early folic acid supplementation during pregnancy prevents diagnosis of autism spectrum disorders in offspring. METHODS: Information on autism spectrum disorder diagnosis was obtained from the National Hospital Register and the Central Psychiatric Register. We estimated risk ratios for autism spectrum disorders for children whose mothers took folate or multivitamin supplements from 4 weeks prior from the last menstrual period through to 8 weeks after the last menstrual period (-4 to 8 weeks) by three 4-week periods. RESULTS: We did not find an association between early folate or multivitamin intake for autism spectrum disorder (folic acid-adjusted risk ratio: 1.06, 95% confidence interval: 0.82-1.36; multivitamin-adjusted risk ratio: 1.00, 95% confidence interval: 0.82-1.22), autistic disorder (folic acid-adjusted risk ratio: 1.18, 95% confidence interval: 0.76-1.84; multivitamin-adjusted risk ratio: 1.22, 95% confidence interval: 0.87-1.69), Asperger’s syndrome (folic acid-adjusted risk ratio: 0.85, 95% confidence interval: 0.46-1.53; multivitamin-adjusted risk ratio: 0.95, 95% confidence interval: 0.62-1.46), or pervasive developmental disorder-not otherwise specified (folic acid-adjusted risk ratio: 1.07, 95% confidence interval: 0.75-1.54; multivitamin: adjusted risk ratio: 0.87, 95% confidence interval: 0.65-1.17) compared with women reporting no supplement use in the same period. CONCLUSION: We did not find any evidence to corroborate previous reports of a reduced risk for autism spectrum disorders in offspring of women using folic acid supplements in early pregnancy.
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21. Weisskopf MG, Kioumourtzoglou MA, Roberts AL. {{Air Pollution and Autism Spectrum Disorders: Causal or Confounded?}}. {Curr Environ Health Rep};2015 (Sep 23)
In the last decade, several studies have examined the association between perinatal exposure to ambient air pollution and risk of autism spectrum disorder (ASD). These studies have largely been consistent, with associations seen with different aspects of air pollution, including hazardous air toxics, ozone, particulate, and traffic-related pollution. Confounding by socioeconomic status (SES) and place of residence are of particular concern, as these can be related to ASD case ascertainment and other potential causal risk factors for ASD. While all studies take steps to address this concern, residual confounding is difficult to rule out. Two recent studies of air pollution and ASD, however, present findings that strongly argue against residual confounding, especially for factors that do not vary over relatively short time intervals. These two studies, conducted in communities around the USA, found a specific association with air pollution exposure during the 3rd, but not the 1st, trimester, when both trimesters were modeled simultaneously. In this review, we discuss confounding possibilities and then explain-with the aid of directed acyclic graphs (DAGs)-why an association that is specific to a particular time window, when multiple exposure windows are simultaneously assessed, argues against residual confounding by (even unmeasured) non-time-varying factors. In addition, we discuss why examining ambient air pollution concentration as a proxy for personal exposure helps avoid confounding by personal behavior differences, and the implications of measurement error in using ambient concentrations as a proxy for personal exposures. Given the general consistency of findings across studies and the exposure-window-specific associations recently reported, the overall evidence for a causal association between air pollution and ASD is increasingly compelling.
