Environmental factors influencing the risk of autism

Karimi, Padideh; Kamali, Elahe; Mousavi, Seyyed Mohammad; Karahmadi, Mojgan

doi:10.4103/1735-1995.200272

Cited by 164 publications

(74 citation statements)

References 176 publications

(241 reference statements)

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“…Although diverse genetic (Ramaswami & Geschwind, 2018) and environmental factors (Karimi, Kamali, Mousavi, & Karahmadi, 2017;Modabbernia, Velthorst, & Reichenberg, 2017), as well as their interactions (Abbott, Gumusoglu, Bittle, Beversdorf, & Stevens, 2018;Rijlaarsdam et al, 2017), are thought to contribute to the complex etiology of ASD, ASD's etiology remains poorly understood due to the indirect and small effects of known genetic and environmental factors (Crespi, 2016;Varcin, Alvares, Uljarevi c, & Whitehouse, 2017).…”

mentioning

confidence: 99%

Adjusting for allometric scaling in ABIDE I challenges subcortical volume differences in autism spectrum disorder

Williams

Peyre

Toro

et al. 2020

Human Brain Mapping

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Inconsistencies across studies investigating subcortical correlates of autism spectrum disorder (ASD) may stem from small sample size, sample heterogeneity, and omitting or linearly adjusting for total brain volume (TBV). To properly adjust for TBV, brain allometry-the nonlinear scaling relationship between regional volumes and TBVwas considered when examining subcortical volumetric differences between typically developing (TD) and ASD individuals. Autism Brain Imaging Data Exchange I (ABIDE I; N = 654) data was analyzed with two methodological approaches: univariate linear mixed effects models and multivariate multiple group confirmatory factor analyses. Analyses were conducted on the entire sample and in subsamples based on age, sex, and full scale intelligence quotient (FSIQ). A similar ABIDE I study was replicated and the impact of different TBV adjustments on neuroanatomical group differences was investigated. No robust subcortical allometric or volumetric group differences were observed in the entire sample across methods. Exploratory analyses suggested that allometric scaling and volume group differences may exist in certain subgroups defined by age, sex, and/or FSIQ. The type of TBV adjustment influenced some reported volumetric and scaling group differences. This study supports the absence of robust volumetric differences between ASD and TD individuals in the investigated volumes when adjusting for brain allometry, expands the literature by finding no group difference in allometric scaling, and further suggests that differing TBV adjustments contribute to the variability of reported neuroanatomical differences in ASD. K E Y W O R D S allometry, autism spectrum disorder, subcortical volumes, total brain volume 1 | INTRODUCTION Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by early persistent deficits in social communication and interactions and restricted, repetitive patterns of behavior, interests, or activities. These symptoms impair social or occupational functioning and are not restricted to a developmental delay or intellectual deficiencies (American Psychiatric Association, 2013). Although prevalence estimates appear to vary by country and methods of assessments

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mentioning

confidence: 99%

Adjusting for allometric scaling in ABIDE I challenges subcortical volume differences in autism spectrum disorder

Williams

Peyre

Toro

et al. 2020

Human Brain Mapping

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“…The Centers for Disease Control and Prevention (CDC) reports that, if one identical twin has autism, the other will be affected 36 to 95% of the time and if one non-identical twin has autism, the other twin will be affected about 31% of the time (Ronald et al, 2006;Taniai et al, 2008;Rosenberg et al, 2009;Hallmayer et al, 2011). The lack of complete concordance in ASD studies on identical twins suggests that the disorder may be due to a combination of genetic and environmental factors (Karimi et al, 2017). There are now over 700 genes and over 2,000 copy number variations (CNVs) with potential links to ASD in a professionally curated database for the autism research community called SFARI Gene (Abrahams et al, 2013).…”

Section: Autism Spectrum Disorder (Asd)mentioning

confidence: 99%

Aberrantly High Levels of Somatic LINE-1 Expression and Retrotransposition in Human Neurological Disorders

Terry

Devine

2020

Front. Genet.

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Retrotransposable elements (RTEs) have actively multiplied over the past 80 million years of primate evolution, and as a consequence, such elements collectively occupy ~ 40% of the human genome. As RTE activity can have detrimental effects on the human genome and transcriptome, silencing mechanisms have evolved to restrict retrotransposition. The brain is the only known somatic tissue where RTEs are de-repressed throughout the life of a healthy human and each neuron in specific brain regions accumulates up to ~13.7 new somatic L1 insertions (and perhaps more). However, even higher levels of somatic RTE expression and retrotransposition have been found in a number of human neurological disorders. This review is focused on how RTE expression and retrotransposition in neuronal tissues might contribute to the initiation and progression of these disorders. These disorders are discussed in three broad and sometimes overlapping categories: 1) disorders such as Rett syndrome, Aicardi-Goutières syndrome, and ataxia-telangiectasia, where expression/retrotransposition is increased due to mutations in genes that play a role in regulating RTEs in healthy cells, 2) disorders such as autism spectrum disorder, schizophrenia, and substance abuse disorders, which are thought to be caused by a combination of genetic and environmental stress factors, and 3) disorders associated with age, such as frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and normal aging, where there is a time-dependent accumulation of neurological degeneration, RTE copy number, and phenotypes. Research has revealed increased levels of RTE activity in many neurological disorders, but in most cases, a clear causal link between RTE activity and these disorders has not been well established. At the same time, even if increased RTE activity is a passenger and not a driver of disease, a detrimental effect is more likely than a beneficial one. Thus, a better understanding of the role of RTEs in neuronal tissues likely is an important part of understanding, preventing, and treating these disorders.

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“…Similarly, it has been consistently suggested that parental viral infections are associated with the development of autism in their offspring [21][22][23]. Among the infectious diseases, some have been specifically pointed out as contributing to infantile autism when infection occurs during the first trimester of pregnancy [24]. These diseases include rubella [21,[25][26][27], measles, mumps [21,26,27], chicken pox [21,28], influenza [21,23], herpes simplex virus [29], pneumonia, syphilis, varicella zoster [30], and cytomegalovirus [27,[31][32][33].…”

Section: Viral Infectionmentioning

confidence: 99%

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

Yoon

Choi

Lee

et al. 2020

JCM

107

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Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by difficulties in social interaction, language development delays, repeated body movements, and markedly deteriorated activities and interests. Environmental factors, such as viral infection, parental age, and zinc deficiency, can be plausible contributors to ASD susceptibility. As ASD is highly heritable, genetic risk factors involved in neurodevelopment, neural communication, and social interaction provide important clues in explaining the etiology of ASD. Accumulated evidence also shows an important role of epigenetic factors, such as DNA methylation, histone modification, and noncoding RNA, in ASD etiology. In this review, we compiled the research published to date and described the genetic and epigenetic epidemiology together with environmental risk factors underlying the etiology of the different phenotypes of ASD.

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Environmental factors influencing the risk of autism

Cited by 164 publications

References 176 publications

Adjusting for allometric scaling in ABIDE I challenges subcortical volume differences in autism spectrum disorder

Adjusting for allometric scaling in ABIDE I challenges subcortical volume differences in autism spectrum disorder

Aberrantly High Levels of Somatic LINE-1 Expression and Retrotransposition in Human Neurological Disorders

Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder

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