Heritable aspects of biological motion perception and its covariation with autistic traits

The ability to detect biological motion (BM) and decipher the meaning therein is essential to human survival and social interaction. However, at the individual level, we are not equally equipped with this ability. In particular, impaired BM perception and abnormal neural responses to BM have been observed in autism spectrum disorder (ASD), a highly heritable neurodevelopmental disorder characterized by devastating social deficits. Here, we examined the underlying sources of individual differences in two abilities fundamental to BM perception (i.e., the abilities to process local kinematic and global configurational information of BM) and explored whether BM perception shares a common genetic origin with autistic traits. Using the classical twin method, we found reliable genetic influences on BM perception and revealed a clear dissociation between its two components—whereas genes account for about 50% of the individual variation in local BM processing, global BM processing is largely shaped by environment. Critically, participants’ sensitivity to local BM cues was negatively correlated with their autistic traits through the dimension of social communication, with the covariation largely mediated by shared genetic effects. These findings demonstrate that the ability to process BM, especially with regard to its inherent kinetics, is heritable. They also advance our understanding of the sources of the linkage between autistic symptoms and BM perception deficits, opening up the possibility of treating the ability to process local BM information as a distinct hallmark of social cognition.

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Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)

Current Medicinal Chemistry ◽

10.2174/0929867327666200217101908 ◽

2020 ◽

Vol 27 (40) ◽

pp. 6771-6786

Author(s):

Geir Bjørklund ◽

Nagwa Abdel Meguid ◽

Maryam Dadar ◽

Lyudmila Pivina ◽

Joanna Kałużna-Czaplińska ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Neurodevelopmental Disorder ◽

Caloric Intake ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Nutritional Deficiencies ◽

Childhood And Adolescence ◽

Restricted Interests ◽

Balanced Diet ◽

The Individual

As a major neurodevelopmental disorder, Autism Spectrum Disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstand the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of the overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain the improved socio-behavioral habit and physical health.

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ASD Phenotype—Genotype Associations in Concordant and Discordant Monozygotic and Dizygotic Twins Stratified by Severity of Autistic Traits

International Journal of Molecular Sciences ◽

10.3390/ijms20153804 ◽

2019 ◽

Vol 20 (15) ◽

pp. 3804 ◽

Cited By ~ 4

Author(s):

Hu ◽

Devlin ◽

Debski

Keyword(s):

Neurodevelopmental Disorder ◽

Significant Snps ◽

Autistic Traits ◽

Autism Spectrum ◽

Case Control ◽

Genomic Variation ◽

Association Analyses ◽

Dizygotic Twins ◽

Severity Scores ◽

Control Association

Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by impaired social communication coupled with stereotyped behaviors and restricted interests. Despite the high concordance rate for diagnosis, there is little information on the magnitude of genetic contributions to specific ASD behaviors. Using behavioral/trait severity scores from the Autism Diagnostic Interview-Revised (ADI-R) diagnostic instrument, we compared the phenotypic profiles of mono- and dizygotic twins where both co-twins were diagnosed with ASD or only one twin had a diagnosis. The trait distribution profiles across the respective twin populations were first used for quantitative trait association analyses using publicly available genome-wide genotyping data. Trait-associated single nucleotide polymorphisms (SNPs) were then used for case-control association analyses, in which cases were defined as individuals in the lowest (Q1) and highest (Q4) quartiles of the severity distribution curves for each trait. While all of the ASD-diagnosed twins exhibited similar trait severity profiles, the non-autistic dizygotic twins exhibited significantly lower ADI-R item scores than the non-autistic monozygotic twins. Case-control association analyses of twins stratified by trait severity revealed statistically significant SNPs with odds ratios that clearly distinguished individuals in Q4 from those in Q1. While the level of shared genomic variation is a strong determinant of the severity of autistic traits in the discordant non-autistic twins, the similarity of trait profiles in the concordantly autistic dizygotic twins also suggests a role for environmental influences. Stratification of cases by trait severity resulted in the identification of statistically significant SNPs located near genes over-represented within autism gene datasets.

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Quality of life: A universal or a disability specific concept?

Canadian Journal of Occupational Therapy ◽

10.1177/0008417419831552 ◽

2019 ◽

Vol 87 (1) ◽

pp. 4-11

Author(s):

Asnat Bar-Haim Erez ◽

Eynat Gal

Keyword(s):

Quality Of Life ◽

Occupational Therapy ◽

Neurodevelopmental Disorder ◽

Occupational Therapists ◽

Autism Spectrum ◽

Potential Contribution ◽

Key Issues ◽

Specific Concept ◽

The Individual

Background. Quality of life (QoL) is an important outcome of occupational therapy practice. Autism spectrum disorder (ASD) is a neurodevelopmental disorder that impacts the individual throughout their lifespan and may substantially affect QoL. Measuring QoL of people with ASD presents a challenge and a debate whether to use general versus disability-specific adapted measures. Purpose. This paper aims to (a) revisit the construct of QoL and discuss specific dilemmas pertaining to its measurement, and (b) discuss implications to the assessment of QoL in individuals with ASD while highlighting the potential contribution of occupational therapy to the development of measures. Key Issues. We suggest adding the domain of accessibility into QoL assessments, including, physical, sensory, social, and cognitive aspects, and to use disability-specific QoL measures. Implications. The paper presents a call for occupational therapists to be involved in developing specific ASD disability-oriented measures that consider the unique characteristics of the disorder and environmental supports.

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Distinct Autistic Traits Are Differentially Associated With the Width of the Multisensory Temporal Binding Window

Multisensory Research ◽

10.1163/22134808-00002612 ◽

2018 ◽

Vol 31 (6) ◽

pp. 523-536 ◽

Cited By ~ 8

Author(s):

Ayako Yaguchi ◽

Souta Hidaka

Keyword(s):

Neurodevelopmental Disorder ◽

Continuous Distribution ◽

Autistic Traits ◽

Autism Spectrum ◽

Audiovisual Integration ◽

Autism Spectrum Quotient ◽

Temporal Binding ◽

Restricted Interests ◽

Temporal Binding Window ◽

And Behavior

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and interaction, and restricted interests and behavior patterns. These characteristics are considered as a continuous distribution in the general population. People with ASD show atypical temporal processing in multisensory integration. Regarding the flash–beep illusion, which refers to how a single flash can be illusorily perceived as multiple flashes when multiple auditory beeps are concurrently presented, some studies reported that people with ASD have a wider temporal binding window and greater integration than typically developed people; others found the opposite or inconsistent tendencies. Here, we investigated the relationships between the manner of the flash–beep illusion and the various dimensions of ASD traits by estimating the degree of typically developed participants’ ASD traits including five subscales using the Autism-Spectrum Quotient. We found that stronger ASD traits of communication and social skill were associated with a wider and narrower temporal binding window respectively. These results suggest that specific ASD traits are differently involved in the particular temporal binding processes of audiovisual integration.

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Peculiarity of Efficiency Assessment for Educational and Psychological Interventions Used with Children with ASD

Social Sciences and Childhood - Социальные науки и детство ◽

10.17759/ssc.2020010105 ◽

2020 ◽

Vol 1 (1) ◽

pp. 58-67

Author(s):

A.B. Sorokin ◽

E.Yu. Davydova ◽

A.V. Khaustov

Keyword(s):

Experimental Data ◽

Autism Spectrum Disorder ◽

Children With Autism ◽

Autism Spectrum ◽

Psychological Interventions ◽

Evidence Based ◽

Individual Level ◽

Efficiency Assessment ◽

Children With Asd ◽

The Individual

Timely identification of appropriate intervention is prerequisite for amelioration of deficits in children with autism spectrum disorder (ASD). It is a complicated choice because of the high heterogeneity of ASD manifestations and insufficient state of knowledge about intervention efficiency. The article introduces an approach that will allow professionals who plan educational and psychological interventions for children with ASD and caregivers to assess the methods in terms of their congruence with the evidence-based criteria. Such assessment is conducted based on published experimental data. The article presents characteristics that are worth considering while making an informed decision about the preferred intervention. They include formal features, such as sample sizes, study length, compliance with the target group description, and validity, as well as subjective criteria that enable appropriate choice of intervention at the individual level.

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Heritability of reflexive social attention triggered by eye gaze and walking direction: common and unique genetic underpinnings

Psychological Medicine ◽

10.1017/s003329171900031x ◽

2019 ◽

Vol 50 (3) ◽

pp. 475-483

Author(s):

Li Wang ◽

Ying Wang ◽

Qian Xu ◽

Dong Liu ◽

Haoyue Ji ◽

...

Keyword(s):

Eye Gaze ◽

Neurodevelopmental Disorder ◽

Critical Role ◽

Autistic Traits ◽

Autism Spectrum ◽

Social Attention ◽

Genetic Effects ◽

The Core ◽

Attentional Effect ◽

The Social

AbstractBackgroundSocial attention ability is crucial for human adaptive social behaviors and interpersonal communications, and the malfunction of which has been implicated in autism spectrum disorder (ASD), a highly genetic neurodevelopmental disorder marked by striking social deficits.MethodsUsing a classical twin design, the current study investigated the genetic contribution to individual variation in social and non-social attention abilities, and further probed their potential genetic linkage. Moreover, individual autistic traits were further measured in an independent group of non-twin participants to examine the hypothetical link between the core social attention ability and ASD.ResultsWe found reliable genetic influences on the social attentional effects induced by two distinct cues (eye gaze and walking direction), with 91% of their covariance accounted for by common genetic effects. However, no evidence of heritability or shared genetic effects was observed for the attentional effect directed by a non-social cue (i.e. arrow direction) and its correlation with the social attention ability. Remarkably, one's autistic traits could well predict his/her heritable core social attention ability extracted from the conventional social attentional effect.ConclusionsThese findings together suggest that human social attention ability is supported by unique genetic mechanisms that can be shared across different social, but not non-social, processing. Moreover, they also encourage the identification of ‘social attention genes’ and highlight the critical role of the core human social attention ability in seeking the endophenotypes of social cognitive disorders including ASD.

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Motor learning characterization in people with autism spectrum disorder: A systematic review

Dementia & Neuropsychologia ◽

10.1590/1980-57642016dn11-030010 ◽

2017 ◽

Vol 11 (3) ◽

pp. 276-286 ◽

Cited By ~ 8

Author(s):

Íbis Ariana Peña de Moraes ◽

Thais Massetti ◽

Tânia Brusque Crocetta ◽

Talita Dias da Silva ◽

Lilian Del Ciello de Menezes ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Motor Learning ◽

Skill Acquisition ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Skill Learning ◽

Spectrum Disorder ◽

Learning Tasks ◽

The Individual ◽

Methodological Aspects

ABSTRACT Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder primarily characterized by deficits in social interaction, communication and implicit skill learning. OBJECTIVE: To analyse the results of research on "motor learning" and the means used for measuring "autistic disorder". METHODS: A systematic literature search was done using Medline/PubMed, Web of Science, BVS (virtual health library), and PsycINFO. We included articles that contained the keywords "autism" and "motor learning". The variables considered were the methodological aspects; results presented, and the methodological quality of the studies. RESULTS: A total of 42 studies were identified; 33 articles were excluded because they did not meet the inclusion criteria. Data were extracted from nine eligible studies and summarized. CONCLUSION: We concluded that although individuals with ASD showed performance difficulties in different memory and motor learning tasks, acquisition of skills still takes place in this population; however, this skill acquisition is related to heterogeneous events, occurring without the awareness of the individual.

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Should early intervention in autism be provided?

BJPsych Advances ◽

10.1192/apt.22.3.147 ◽

2016 ◽

Vol 22 (3) ◽

pp. 147-150

Author(s):

David Foreman

Keyword(s):

Public Health ◽

Autism Spectrum Disorder ◽

Early Intervention ◽

High Intensity ◽

Cochrane Review ◽

Population Level ◽

Autism Spectrum ◽

Public Health Perspective ◽

Individual Level ◽

The Individual

SummaryRates of detected autism spectrum disorder (ASD) are currently rising, and there is a need for effective treatments to manage the symptoms. In this commentary I outline the challenges that autism presents to service delivery and consider a Cochrane review that evaluates one of the best-known classes of treatment for ASD, parent-mediated early intervention. I discuss effect size and bias in the interpretation of the review's results, and consider also the rationale for low- and high-intensity intervention at both the individual level and, from a public health perspective, at population level.

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Copy-Number Variants in The Contactin-5 Gene Are a Potential Risk Factor for Autism Spectrum Disorder

10.21203/rs.3.rs-660740/v1 ◽

2021 ◽

Author(s):

Zoe Schmilovich ◽

Guillaume Huguet ◽

Qin He ◽

Amélie Musa-Johnson ◽

Elise Douard ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Copy Number ◽

Statistical Power ◽

Neurodevelopmental Disorder ◽

Copy Number Variants ◽

Autistic Traits ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Small Scale ◽

Phenotypic Data

Abstract BackgroundContactin-5 (CNTN5) is a candidate risk gene for autism spectrum disorder (ASD), yet previous attempts to associate copy-number variants (CNVs) encompassing CNTN5 with ASD-susceptibility were limited by insufficient statistical power. Here, we aim to clarify the putative association between CNTN5 CNVs and ASD-risk using large samples. MethodsFirst, we calculated the prevalence and transmission of CNTN5 CNVs in ASD across three ASD cohorts (SSC, MSSNG, and SPARK), the cases reported in the Mercati et al. study, and the BBGRE database (n = 16,607). Second, we modelled their transmission in children with ASD compared to their unaffected siblings. Third, we assessed their frequency in cases with ASD compared to unselected population controls (n = 24,898) and replicated the findings in UK Biobank (UKBB), an independent general population cohort (n = 459,855). Finally, we evaluated the clinical impact of CNTN5 CNVs by assessing their enrichment in a broad neurodevelopmental disorder (NDD) cohort, and the clinical profile of CNTN5 CNV carriers in the DECIPHER database.ResultsThe prevalence of CNTN5 exonic deletions and duplications was stable across ASD and across unselected cohorts (0.042% and 0.020%, respectively). We found a significant enrichment of intronic CNTN5 deletions CNVs in ASD compared to unselected controls (0.175% and 0.004%, respectively). CNVs in most cases with ASD (29 out of 30, 96.7%) were inherited. Parents transmitted the variants to their affected and unaffected children with the same frequency. No differences in exonic CNTN5 CNVs enrichment between cases with ASD compared to individuals with NDDs was observed. LimitationsThe lack of phenotypic data available for unaffected family members of probands with ASD limits the potential to assess whether CNTN5 CNVs segregate with other neuropsychiatric or sub-threshold autistic traits. Different genotyping or sequencing technologies may affect the differences in CNTN5 CNV prevalence across cohorts.ConclusionCNTN5 CNVs are rare inherited ASD susceptibility variants. They may also confer risk for other neuropsychiatric disorders. We offer a powerful framework to investigate candidate susceptibility variants that may not be detected through small-scale approaches. This approach may reveal more intermediate effect-size variants that are implicated in the etiology of ASD.

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