Still too much delay in recognition of autism spectrum disorder.
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ABSTRACT:
SUBMITTER: Maurizio B
PROVIDER: S-EPMC8786613 | biostudies-literature | 2022 Jan
REPOSITORIES: biostudies-literature
Publications
Still too much delay in recognition of autism spectrum disorder.
Maurizio Bonati B Cartabia Massimo M Clavenna Antonio A
Epidemiology and psychiatric sciences 20220111
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Project description:Current literature is divided over whether and how processes such as perspective taking and reward sensitivity differ between individuals with autism spectrum disorder (ASD) versus neurotypical individuals. Discounting tasks may provide novel insight into how these processes operate. In delay discounting tasks, participants choose between smaller immediate rewards and larger delayed rewards, and in social discounting tasks, participants choose between a smaller monetary rewards for themselves versus a larger reward for partners of varied social distance (e.g., a close friend vs. an acquaintance). Delay and social discounting tasks thus implicitly measure the subjective value of rewards given to one's future self and to others, capturing constructs such as perspective taking, reward processing, and social closeness, all of which have been discussed as core cognitive mechanisms underlying ASD. Despite extensive research on discounting in other clinical populations, few studies have examined delay discounting in ASD and no research has examined social discounting in ASD. The goal of the current study was to assess delay and social discounting for monetary rewards in a single sample of adolescents and adults with ASD compared to a matched neurotypical sample. Overall, adults and adolescents with ASD valued both future rewards and rewards given to others less than their typical counterparts did, but rates of discounting were not significantly correlated across temporal and social domains. These results extend an important behavioral paradigm for understanding both perspective taking and reward processing to autism. Autism Res 2019, 12: 870-877. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Discounting tasks-which experimentally measure the subjective value of different rewards-have been used with a variety of clinical populations, but are underexplored in ASD. We found that compared to neurotypical individuals, individuals with ASD showed diminished subjective value for future rewards (compared to immediate rewards) and rewards for others (compared to rewards for self). This finding has implications for understanding perspective taking, reward processing, and social closeness in ASD.
| S-EPMC6941783 | biostudies-literature
Project description:ImportanceIncreasing evidence suggests that autism spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal development. Preeclampsia may trigger aberrant neurodevelopment through placental, maternal, and fetal physiologic mechanisms.ObjectiveTo determine whether preeclampsia is associated with ASD and/or DD.Design, setting, and participantsThe Childhood Autism Risks from Genetics and the Environment (CHARGE) study is a population-based, case-control investigation of ASD and/or DD origins. Children from 20 California counties aged 24 to 60 months at the time of recruitment and living in catchment areas with a biological parent fluent in English or Spanish were enrolled from January 29, 2003, through April 7, 2011. Children with ASD (n = 517) and DD (n = 194) were recruited through the California Department of Developmental Services, the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, and referrals. Controls with typical development (TD) (n = 350) were randomly selected from birth records and frequency matched on age, sex, and broad geographic region. Physicians diagnosing preeclampsia were masked to neurodevelopmental outcome, and those assessing neurodevelopmental function were masked to preeclampsia status.ExposuresPreeclampsia and placental insufficiency were self-reported and abstracted from medical records.Main outcomes and measuresThe Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised were used to confirm ASD, whereas children with DD and TD were confirmed by Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales and were free of autistic symptoms. Hypotheses were formulated before data collection.ResultsChildren with ASD were twice as likely to have been exposed in utero to preeclampsia as controls with TD after adjustment for maternal educational level, parity, and prepregnancy obesity (adjusted odds ratio, 2.36; 95% CI, 1.18-4.68); risk increased with greater preeclampsia severity (test for trend, P = .02). Placental insufficiency appeared responsible for the increase in DD risk associated with severe preeclampsia (adjusted odds ratio, 5.49; 95% CI, 2.06-14.64).Conclusions and relevancePreeclampsia, particularly severe disease, is associated with ASD and DD. Faulty placentation manifests in the mother as preeclampsia with vascular damage, enhanced systemic inflammation, and insulin resistance; in the placenta as oxygen and nutrient transfer restriction and oxidative stress; and in the fetus as growth restriction and progressive hypoxemia. All are potential mechanisms for neurodevelopmental compromise.
| S-EPMC4416484 | biostudies-literature
Project description:Social animals, including humans, structure social groups where social hierarchy exists. Recognizing social rank of other group members is a crucial ability to subsist in such environments. Here we show preliminary evidence with a relatively small number of samples that children with autism spectrum disorder, a neurodevelopmental disorder involving social dysfunction, exhibit atypical, and more robust recognition of social rank than normal children, which may be developed to compensate deficits of the neural systems processing social information.
| S-EPMC6821924 | biostudies-literature
Project description:BackgroundLanguage delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype.MethodsWe implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample.ResultsMeta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition.ConclusionsGreater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms.
| S-EPMC6198516 | biostudies-literature
Project description:In neurotypical observers, it is widely believed that the visual system samples the world in a coarse-to-fine fashion. Past studies on Autism Spectrum Disorder (ASD) have identified atypical responses to fine visual information but did not investigate the time course of the sampling of information at different levels of granularity (i.e. Spatial Frequencies, SF). Here, we examined this question during an object recognition task in ASD and neurotypical observers using a novel experimental paradigm. Our results confirm and characterize with unprecedented precision a coarse-to-fine sampling of SF information in neurotypical observers. In ASD observers, we discovered a different pattern of SF sampling across time: in the first 80 ms, high SFs lead ASD observers to a higher accuracy than neurotypical observers, and these SFs are sampled differently across time in the two subject groups. Our results might be related to the absence of a mandatory precedence of global information, and to top-down processing abnormalities in ASD.
| S-EPMC5067503 | biostudies-literature
Project description:The auditory-evoked P1m, recorded by magnetoencephalography, reflects a central auditory processing ability in human children. One recent study revealed that asynchrony of P1m between the right and left hemispheres reflected a central auditory processing disorder (i.e., attention deficit hyperactivity disorder, ADHD) in children. However, to date, the relationship between auditory P1m right-left hemispheric synchronization and the comorbidity of hyperactivity in children with autism spectrum disorder (ASD) is unknown. In this study, based on a previous report of an asynchrony of P1m in children with ADHD, to clarify whether the P1m right-left hemispheric synchronization is related to the symptom of hyperactivity in children with ASD, we investigated the relationship between voice-evoked P1m right-left hemispheric synchronization and hyperactivity in children with ASD. In addition to synchronization, we investigated the right-left hemispheric lateralization. Our findings failed to demonstrate significant differences in these values between ASD children with and without the symptom of hyperactivity, which was evaluated using the Autism Diagnostic Observational Schedule, Generic (ADOS-G) subscale. However, there was a significant correlation between the degrees of hemispheric synchronization and the ability to keep still during 12-minute MEG recording periods. Our results also suggested that asynchrony in the bilateral brain auditory processing system is associated with ADHD-like symptoms in children with ASD.
| S-EPMC4983646 | biostudies-literature
Project description:This SuperSeries is composed of the SubSeries listed below.
2018-02-27 | GSE111176 | GEO
Project description:Attention recognition plays a vital role in providing learning support for children with autism spectrum disorders (ASD). The unobtrusiveness of face-tracking techniques makes it possible to build automatic systems to detect and classify attentional behaviors. However, constructing such systems is a challenging task due to the complexity of attentional behavior in ASD. This paper proposes a face-based attention recognition model using two methods. The first is based on geometric feature transformation using a support vector machine (SVM) classifier, and the second is based on the transformation of time-domain spatial features to 2D spatial images using a convolutional neural network (CNN) approach. We conducted an experimental study on different attentional tasks for 46 children (ASD n=20, typically developing children n=26) and explored the limits of the face-based attention recognition model for participant and task differences. Our results show that the geometric feature transformation using an SVM classifier outperforms the CNN approach. Also, attention detection is more generalizable within typically developing children than within ASD groups and within low-attention tasks than within high-attention tasks. This paper highlights the basis for future face-based attentional recognition for real-time learning and clinical attention interventions.Supplementary informationThe online version contains supplementary material available at 10.1007/s41666-021-00101-y.
| S-EPMC8982782 | biostudies-literature
Project description:BackgroundTOP2B encodes type II topoisomerase beta, which controls topological changes during DNA transcription. TOP2B is expressed in the developing nervous system and is involved in brain development and neural differentiation. Recently, a de novo missense TOP2B variant (c.187C>T) has been identified in an individual with neurodevelopmental disorder (NDD). However, the association between TOP2B variants and NDDs remains uncertain.MethodsTrio-based whole-exome sequencing was performed on a 7-year-old girl, presenting muscle hypotonia, stereotypic hand movements, epilepsy, global developmental delay, and autism spectrum disorder. Brain magnetic resonance images were normal. She was unable to walk independently and spoke no meaningful words.ResultsWe found a de novo variant in TOP2B (NM_001330700.1:c.187C>T, p.(His63Tyr)), which is identical to the previous case. The clinical features of the two individuals with the c.187C>T variant overlapped.ConclusionOur study supports the finding that TOP2B variants may cause NDDs.
| S-EPMC7057084 | biostudies-literature
Project description:The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely to contribute to the pathogenesis of these disorders, we performed bioinformatics analyses that demonstrated a high level of functional convergence during fetal cortical development between BAZ2B and genes known to cause autism spectrum disorder (ASD) and neurodevelopmental disorder. We also found an excess of de novo BAZ2B loss-of-function variants in exome sequencing data from previously published cohorts of individuals with neurodevelopmental disorders. We subsequently identified seven additional individuals with heterozygous deletions, stop-gain, or de novo missense variants affecting BAZ2B. All of these individuals have developmental delay (DD), intellectual disability (ID), and/or ASD. Taken together, our findings suggest that haploinsufficiency of BAZ2B causes a neurodevelopmental disorder, whose cardinal features include DD, ID, and ASD.
| S-EPMC7262739 | biostudies-literature