Etiology of Autism Spectrum Disorders and Autistic Traits Over Time

Taylor, Mark J.; Rosenqvist, Mina A.; Larsson, Henrik; Gillberg, Christopher; D’Onofrio, Brian M.; Lichtenstein, Paul; Lundström, Sebastian

doi:10.1001/jamapsychiatry.2020.0680

Cited by 104 publications

(78 citation statements)

References 53 publications

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“…The diagnosis of ASD is based on clinical criteria, as formulated in the International Classification of Diseases (ICD-10) of the World Health Organization or the Classification of the Psychiatric Disorders (DSM-5) of the American Psychiatric Association [ 2 , 6 ]. Genetic, epigenetic and environmental risk factors have all been implicated in the occurrence of the disorder [ 7 , 8 , 9 ], but a recent analysis of large Swedish twin cohorts reported that genetic factors consistently played a larger role than environmental ones [ 10 ]. In most cases, the etiology remains unknown.…”

Section: Introductionmentioning

confidence: 99%

Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

Thomaidis

Mavroeidi

Richardson

et al. 2020

JCM

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Autism spectrum disorders (ASD) constitute a public health concern with increasing prevalence worldwide. We aimed to estimate prevalence and age at diagnosis in Greece, where no large-scale prevalence study has ever been conducted. Aggregate data were collected on ASD diagnoses by gender and calendar year of diagnosis up to 2019, for children born in 2008 and 2009, from the Centers for Educational and Counseling Support, which evaluate children to receive special educational support in school. Coverage was 87.1% of centers and 88.1% of schoolchildren born in 2008–9. ASD prevalence overall was 1.15% (1.83% males, 0.44% females; ratio 4.14:1), ranging from 0.59% to 1.50% in Greece’s 13 regions. In five regions, prevalence differed significantly between centers. Overall, only 3.8% of diagnoses were made before the fourth year after birth and 42.7% before the sixth year, with considerable variation between regions. Approximate mean age at diagnosis was six years and one month, and about three months earlier for girls than for boys. Our results provide evidence-based information to guide service planning and development at national and regional levels. Particular attention should be paid to smoothing out inequalities regarding service accessibility and provision. Emphasis should be given to earlier identification and diagnosis of ASD.

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Section: Introductionmentioning

confidence: 99%

Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

Thomaidis

Mavroeidi

Richardson

et al. 2020

JCM

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“…In conclusion, we performed an environmental-wide association study of autistic traits using variables collected prospectively during prenatal and perinatal life and found a number of variables that predicted higher autistic symptoms during childhood. No one variable towered above the others, suggesting that it may be the interplay between these variables that is associated with emerging autistic symptoms, Alternatively, it may be driven more by genetic [Taylor et al, 2020] or stochastic [T. J. H. White, 2019] events than environmental factors. Further research should explore whether the combination of multiple environmental variables, each having a small effect contributes to the emergence of autistic symptoms.…”

Section: Discussionmentioning

confidence: 99%

Environment‐Wide Association Study (EⁿWAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population‐Based Study

et al. 2020

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A combination of genetic and environmental factors contributes to the origins of autism spectrum disorder (ASD). While a number of studies have described specific environmental factors associating with emerging ASD, studies that compare and contrast multiple environmental factors in the same study are lacking. Thus, the goal of this study was to perform a prospective, data‐driven environmental‐wide association study of pre‐ and perinatal factors associated with the later development of autistic symptoms in childhood. The participants included 3891 6‐year‐old children from a birth cohort with pre‐ and perinatal data. Autistic symptoms were measured using the Social Responsiveness Scale in all children. Prior to any analyses, the sample was randomly split into a discovery set (2920) and a test set (921). Multiple linear regression analyses were performed for each of 920 variables, correcting for six of the most common covariates in epidemiological studies. We found 111 different pre‐ and perinatal factors associated with autistic traits during childhood. In secondary analyses where we controlled for parental psychopathology, 23 variables in the domains of family and interpersonal relationships were associated with the development of autistic symptoms during childhood. In conclusion, a data‐driven approach was used to identify a number of pre‐ and perinatal risk factors associating with higher childhood autistic symptoms. These factors include measures of parental psychopathology and family and interpersonal relationships. These measures could potentially be used for the early identification of those at increased risk to develop ASD. Lay Summary A combination of genetic and environmental factors contributes to the development of autism spectrum disorder (ASD). Each environmental factor may affect the risk of ASD. In a study on 6‐year‐old children, a number of pre‐ and perinatal risk factors were identified that are associated with autistic symptoms in childhood. These factors include measures of parental psychopathology and family and interpersonal relationships. These variables could potentially serve as markers to identify those at increased risk to develop ASD or autistic symptoms. Autism Res 2020, 13: 1582–1600. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

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“…Timing of prenatal exposure is crucial as immune activation at different critical windows could impact disease-specific neurodevelopmental processes. Although several epidemiological studies support an association between prenatal stressors during mid- and late gestational periods and ASD, others have found associations with early gestation or no association [ 2 , 3 , 7 , 8 ]. These discrepancies could be attributed to the lack of substratification in clinical designs, since patient subpopulations may be especially vulnerable to infection due to genetic or environmental factors, compared to others with different aetiologies.…”

Section: Disease Specificity Arising From Immune Challengementioning

confidence: 99%

“…Another possibility is that MIA only reveals its neuropathological impact in subjects with genetic predisposition. Several cohorts have highlighted that ASD may have a significant genetic component, with heritability estimates ranging from 50% using a Cox model [ 70 ] to 83–97% using liability-threshold models [ 2 , 3 ]. A meta-analysis of twin studies calculated the heritability estimate at 64–91% [ 4 ].…”

Section: Disease Specificity Arising From Genetic and Environmentamentioning

confidence: 99%

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Maternal Immunity in Autism Spectrum Disorders: Questions of Causality, Validity, and Specificity

Ji‐Xu

Vincent

2020

JCM

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Autism spectrum disorders (ASD) are complex neurodevelopmental disorders with unknown heterogeneous aetiologies. Epidemiological studies have found an association between maternal infection and development of ASD in the offspring, and clinical findings reveal a state of immune dysregulation in the pre- and postnatal period of affected subjects. Maternal immune activation (MIA) has been proposed to mediate this association by altering fetal neurodevelopment and leading to autism. Although animal models have supported a causal link between MIA and development of ASD, their validity needs to be explored. Moreover, considering that only a small proportion of affected offspring develop autism, and that MIA has been implicated in related diseases such as schizophrenia, a key unsolved question is how disease specificity and phenotypic outcome are determined. Here, we have integrated preclinical and clinical evidence, including the use of animal models for establishing causality, to explore the role of maternal infections in ASD. A proposed priming/multi-hit model may offer insights into the clinical heterogeneity of ASD, its convergence with related disorders, and therapeutic strategies.

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Etiology of Autism Spectrum Disorders and Autistic Traits Over Time

Cited by 104 publications

References 53 publications

Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

Environment‐Wide Association Study (EⁿWAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population‐Based Study

Maternal Immunity in Autism Spectrum Disorders: Questions of Causality, Validity, and Specificity

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Etiology of Autism Spectrum Disorders and Autistic Traits Over Time

Cited by 104 publications

References 53 publications

Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

Autism Spectrum Disorders in Greece: Nationwide Prevalence in 10–11 Year-Old Children and Regional Disparities

Environment‐Wide Association Study (EnWAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population‐Based Study

Maternal Immunity in Autism Spectrum Disorders: Questions of Causality, Validity, and Specificity

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Environment‐Wide Association Study (EⁿWAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population‐Based Study