Autism spectrum disorder: Trends in research exploring etiopathogenesis

Gyawali, Shreeya; Patra, Bichitra Nanda

doi:10.1111/pcn.12860

Cited by 48 publications

(35 citation statements)

References 122 publications

(242 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Whilst the etiopathogenesis of ASD is still unknown, it is generally accepted that this disorder is the product of multiple factors, and is likely to have a polygenic basis [ 4 ]. Nevertheless, the research on environmental factors as possible causes is also strongly supported due to the effect of exposure to certain agents during pregnancy (e.g., valproic acid or Thalidomide) [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Similarities between the Effects of Prenatal Chlorpyrifos and Valproic Acid on Ultrasonic Vocalization in Infant Wistar Rats

Morales-Navas

Castaño-Castaño

Pérez-Fernández

et al. 2020

IJERPH

View full text Add to dashboard Cite

Background: In recent years, ultrasonic vocalizations (USV) in pups has become established as a good tool for evaluating behaviors related to communication deficits and emotional states observed in autism spectrum disorder (ASD). Prenatal valproic acid (VPA) exposure leads to impairments and social behavior deficits associated with autism, with the effects of VPA being considered as a reliable animal model of ASD. Some studies also suggest that prenatal exposure to chlorpyrifos (CPF) could enhance autistic-like behaviors. Methods: In order to explore these similarities, in the present study we tested whether prenatal exposure to CPF at GD12.5–14.5 produces effects that are comparable to those produced by prenatal VPA exposure at GD12.5 in infant Wistar rats. Using Deep Squeek software, we evaluated total number of USVs, latency to the first call, mean call duration, principal frequency peak, high frequency peak, and type of calls. Results: Consistent with our hypothesis, we found that exposure to both CPF and VPA leads to a significantly smaller number of calls along with a longer latency to produce the first call. No significant effects were found for the remaining dependent variables. Conclusions: These results suggest that prenatal exposure to CPF could produce certain behaviors that are reminiscent of those observed in ASD patients.

show abstract

Section: Introductionmentioning

confidence: 99%

Similarities between the Effects of Prenatal Chlorpyrifos and Valproic Acid on Ultrasonic Vocalization in Infant Wistar Rats

Morales-Navas

Castaño-Castaño

Pérez-Fernández

et al. 2020

IJERPH

View full text Add to dashboard Cite

show abstract

“…In addition, 14% of the ASD parents have other relatives with ASD, and 28% of them had Alzheimer's and dementia in their families (Table 1). Indeed, due to the small sample size, these available data may not be sufficient for questioning the genetic origin of autism (Lovato et al 2018;Gyawali and Patra 2019). Most of the ASD parents do not have an ASD association membership, however, 36% of them receive social care services called home care fees.…”

Section: Resultsmentioning

confidence: 99%

The role of pharmacists in the management of autism spectrum disorder: A survey to determine the knowledge and perception of the parents

Kara¹,

Cakir²,

Durman³

et al. 2019

Istanbul J Pharm

View full text Add to dashboard Cite

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, which is characterized by persistent deficits in social communication and social interaction, limitations and deviations in verbal and nonverbal skills, repetitive patterns of behavior, interests or activities. The worldwide prevalence of ASD has been steadily increasing in recent decades. In 2016, the USA National Health Center for Health Statistics reported that ASD could be found in 1 out of 36 children (Christensen et al. 2016; Sharma et al. 2018). Due to the large variation in deficiencies and the deviations in symptoms between patients, the diagnosis of ASD can be quite difficult. Therefore, it is necessary to distinguish ASD from other neuropsychiatric disorders, and use appropriate evaluation methods to diagnose correctly in order to improve the clinical management of the disease (National Institute of Mental Health 2018; Baumer and Spence 2018).Recent studies have shown that multiple genetic factors play a role in the development of ASD (Lovato 2019). Siblings of ASD children also carry a higher risk of developing ASD (Bolton et al. 1994). It is reported that genetic and chromosomal abnormalities, such as Down's syndrome or fragile X syndrome, can be found in 10% of the children with ASD (DiGuiseppi et al. 2010; Hall et al. 2008). In addition, parental history of psychiatric disorders, premature birth and fetal exposure to psychotropic drugs, toxins, heavy metals and insecticides have been linked to the pathophysiology of ASD (Cattane et al. 2018; Sharma et al. 2018). With the emergence of possible etiologic causes, new therapy approaches may be introduced in the treatment of ASD (Emberti Gialloreti et al. 2019).

show abstract

“…Cognitive disorders usually exhibit complex phenotypical profiles. In cases with an unknown molecular etiology, as in autism spectrum disorders (ASD), many genes (and many variants of specific genes) have been found to contribute to the cognitive and behavioral problems exhibited by affected people, with each of them conferring low risk to the disease (Geschwind and State, 2015;Gyawali and Patra, 2019). In cases with a known etiology, like in Williams syndrome (WS), robust gene-to-phenotype correlations are also difficult to establish, particularly, for cognitive and behavioral deficits (see Korenberg et al, 2000;Tassabehji, 2003;Karmiloff-Smith et al, 2012;Ghaffari et al, 2018 among others for discussion), seemingly because these problems result in most cases from the dysregulation of several other genes outside the affected genomic regions (e.g.…”

Section: Introductionmentioning

confidence: 99%

Autism and Williams syndrome: dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Niego

Benítez‐Burraco

2020

Preprint

View full text Add to dashboard Cite

Autism Spectrum Disorders (ASD) and Williams Syndrome (WS) are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with ASD are mostly hyposocial, subjects with WS are usually reported as hypersocial. At the same time, ASD and WS share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this paper we adopted a comparative-molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in WS than in ASD. Differentially-expressed genes are involved in aspects of brain development and function (particularly, dendritogenesis) and are expressed in brain areas (particularly, the cerebellum, the thalamus and the striatum) of relevance for the ASD and the WS etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the ASD and the WS socio-cognitive profiles.

show abstract

Autism spectrum disorder: Trends in research exploring etiopathogenesis

Cited by 48 publications

References 122 publications

Similarities between the Effects of Prenatal Chlorpyrifos and Valproic Acid on Ultrasonic Vocalization in Infant Wistar Rats

Similarities between the Effects of Prenatal Chlorpyrifos and Valproic Acid on Ultrasonic Vocalization in Infant Wistar Rats

The role of pharmacists in the management of autism spectrum disorder: A survey to determine the knowledge and perception of the parents

Autism and Williams syndrome: dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Contact Info

Product

Resources

About