| 1. |
- Beggiato, Anita, et al.
(författare)
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Gender differences in autism spectrum disorders: Divergence among specific core symptoms.
- 2017
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Ingår i: Autism research : official journal of the International Society for Autism Research. - : Wiley. - 1939-3806 .- 1939-3792. ; 10:4, s. 680-689
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Tidskriftsartikel (refereegranskat)abstract
- Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P<0.001) in the PARIS cohort, and 72.2% of males and 68.3% of females (P<0.0001) in the AGRE cohort. Among the items extracted by the stepwise DA, four belonged to the ADI-R algorithm used for the final diagnosis of ASD. In conclusion, several items of the ADI-R that are taken into account in the diagnosis of autism significantly differentiates between males and females. The potential gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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| 2. |
- Black, Melissa H., et al.
(författare)
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Multi-informant International Perspectives on the Facilitators and Barriers to Employment for Autistic Adults
- 2020
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 13:7, s. 1195-1214
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Tidskriftsartikel (refereegranskat)abstract
- Employment rates for autistic individuals are poor, even compared to those from other disability groups. Internationally, there remains limited understanding of the factors influencing employment across the stages of preparing for, gaining, and maintaining employment. This is the third in a series of studies conducted as part of an International Society for Autism Research (INSAR) policy brief intended to improve employment outcomes for autistic individuals. A multi-informant international survey with five key stakeholder groups, including autistic individuals, their families, employers, service providers, and researchers, was undertaken in Australia, Sweden, and the United States to understand the facilitators and barriers to employment for autistic adults. A total of 687 individuals participated, including autistic individuals (n = 246), family members (n = 233), employers (n = 35), clinicians/service providers (n = 123), and researchers (n = 50). Perceptions of the facilitators and barriers to employment differed significantly across both key stakeholder groups and countries, however, ensuring a good job match and focusing on strengths were identified by all groups as important for success. Key barriers to employment included stigma, a lack of understanding of autism spectrum disorder (ASD) and communication difficulties. Results suggest that a holistic approach to employment for autistic individuals is required, aimed at facilitating communication between key stakeholders, addressing attitudes and understanding of ASD in the workplace, using strength-based approaches and providing early work experience. LAY SUMMARY: Autistic individuals experience significant difficulty getting and keeping a job. This article presents a survey study involving autistic individuals, their families, employers, service providers and researchers in Australia, Sweden, and the United States to understand their perspectives on the factors that support or act as barriers to employment. While perspectives varied across key stakeholders, strategies such as using a holistic approach, targeting workplace attitudes and understanding, focusing on strengths, and providing early work experience are important for success.
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| 3. |
- Black, Melissa H., et al.
(författare)
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Perspectives of key stakeholders on employment of autistic adults across the United States, Australia and Sweden
- 2019
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 12:11, s. 1648-1662
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Tidskriftsartikel (refereegranskat)abstract
- Despite efforts to improve employment outcomes for autistic individuals, internationally their employment rates remain low. There is a need to better understand the factors influencing successful employment for autistic adults in the labor market from the perspectives of multiple keystakeholders. This study represents the second in a series of papers conducted as part of an International Society for Autism Research policy brief aimed at improving employment outcomes for autistic individuals. A community consultation methodology using focus groups, forums, and interviews was applied with autistic individuals (n = 19), family members (n = 18), service providers (n = 21), employers (n = 11), researchers (n = 5), and advocacy group representatives (n = 5) in Australia, Sweden, and the United States, aiming to identify the factors perceived to determine gaining and maintaining employment for autistic individuals. Directed content analysis, guided by the International Classification of Functioning, Disability and Health (ICF), was conducted to investigate the key factors influencing employment outcomes for autistic individuals. Meaningful verbal concepts, or units of text with common themes, were also derived from the qualitative data and then linked and compared to the ICF Autism Spectrum Disorder (ASD) Core-sets. Across countries, activity and participation and environmental factor categories of the ICF were the most associated with employment outcomes. Results suggest that removal of environmental barriers and enhancing environmental facilitators may assist to remediate ASD-related difficulties in the workplace.LAY SUMMARY: This study sought to understand the perspectives of autistic individuals and key stakeholders on factors influencing if autistic adults get and keep jobs. Across Australia, Sweden, and the UnitedStates, focus groups and interviews were conducted to understand international perspectives on what helps and hinders getting and keeping a job for autistic individuals. The environment, including supports, relationships, attitudes, and services, were perceived to be the most important for workplace success. Intervention targeting barriers and facilitators in the workplace environment may support autistic adults to be successful in the labor market.
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| 4. |
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| 5. |
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| 6. |
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| 7. |
- Clements, C. C., et al.
(författare)
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DAS-IICognitive Profiles Are Not Diagnostically Meaningful For Autism: AROCAnalysis
- 2020
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 13:12, s. 2143-2154
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Tidskriftsartikel (refereegranskat)abstract
- Intelligence assessment is an integral part of a comprehensive autism evaluation. Many past studies have described a cognitive profile of autistic individuals characterized by higher nonverbal than verbal IQ scores. The diagnostic utility of this profile, however, remains unknown. We leveraged receiver operating characteristic methods to determine the sensitivity, specificity, and area under the curve (AUC) of three different IQ profiles in a large sample of children who have an autism spectrum disorder diagnosis (N= 1,228, Simons Simplex Collection) who completed the Differential Ability Scales-Second Edition (DAS-II), School Age compared to the normative sample provided by the DAS-II publisher (N= 2,200). The frequently discussed nonverbal > verbal IQ profile performed near chance at distinguishing ASD from normative individuals (AUC: 0.54, 95% CI [0.52-0.56]), and performed significantly worse for females than males (AUC: females: 0.46 [0.41-0.52]; males: 0.55 [0.53-0.58]). All cognitive profiles showed AUC < 0.56. We conclude that while significant differences between verbal and nonverbal IQ scores exist at the group level, these differences are small in an absolute sense and not meaningful at an individual level. We do not recommend using cognitive profiles to aid in autism diagnostic decision-making. Lay Summary Some researchers and clinicians have reported an "autistic cognitive profile" of higher nonverbal intelligence than verbal intelligence. In an analysis of over 1,000 autistic children, we found that thegroup'saverage nonverbal intelligence is usually higher than their verbal intelligence. However, this pattern should not be used by clinicians to make anindividualdiagnosis of autism because our results show it is not helpful nor accurate.
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| 8. |
- de Schipper, Elles, et al.
(författare)
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Ability and Disability in Autism Spectrum Disorder : A Systematic Literature Review Employing the International Classification of Functioning, Disability and Health-Children and Youth Version.
- 2015
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 8:6, s. 782-94
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: This study is the first in a series of four empirical investigations to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The objective was to use a systematic review approach to identify, number, and link functional ability and disability concepts used in the scientific ASD literature to the nomenclature of the ICF-CY (Children and Youth version of the ICF, covering the life span).METHODS: Systematic searches on outcome studies of ASD were carried out in Medline/PubMed, PsycINFO, ERIC and Cinahl, and relevant functional ability and disability concepts extracted from the included studies. These concepts were then linked to the ICF-CY by two independent researchers using a standardized linking procedure. New concepts were extracted from the studies until saturation of identified ICF-CY categories was reached.RESULTS: Seventy-one studies were included in the final analysis and 2475 meaningful concepts contained in these studies were linked to 146 ICF-CY categories. Of these, 99 categories were considered most relevant to ASD (i.e., identified in at least 5% of the studies), of which 63 were related to Activities and Participation, 28 were related to Body functions, and 8 were related to Environmental factors. The five most frequently identified categories were basic interpersonal interactions (51%), emotional functions (49%), complex interpersonal interactions (48%), attention functions (44%), and mental functions of language (44%).CONCLUSION: The broad variety of ICF-CY categories identified in this study reflects the heterogeneity of functional differences found in ASD--both with respect to disability and exceptionality--and underlines the potential value of the ICF-CY as a framework to capture an individual's functioning in all dimensions of life. The current results in combination with three additional preparatory studies (expert survey, focus groups, and clinical study) will provide the scientific basis for defining the ICF Core Sets for ASD for multipurpose use in basic and applied research and every day clinical practice of ASD.
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| 9. |
- de Schipper, Elles, et al.
(författare)
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Functioning and disability in autism spectrum disorder : A worldwide survey of experts
- 2016
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 9:9, s. 959-969
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study is the second of four to prepare International Classification of Functioning, Disability and Health (ICF; and Children and Youth version, ICF(-CY)) Core Sets for Autism Spectrum Disorder (ASD).The objective of this study was to survey the opinions and experiences of international experts on functioning and disability in ASD.Methods: Using a protocol stipulated by the World Health Organization (WHO) and monitored by the ICF Research Branch, an email-based questionnaire was circulated worldwide among ASD experts, and meaningful functional ability and disability concepts were extracted from their responses. These concepts were then linked to the ICF(-CY) by two independent researchers using a standardized linking procedure.Results: N = 225 experts from 10 different disciplines and all six WHO-regions completed the survey. Meaningful concepts from the responses were linked to 210 ICF(-CY) categories. Of these, 103 categories were considered most relevant to ASD (i.e., identified by at least 5% of the experts), of which 37 were related toActivities and Participation, 35 to Body functions, 22 to Environmental factors, and 9 to Body structures. A variety of personal characteristics and ASD-related functioning skills were provided by experts, including honesty, loyalty, attention to detail and creative talents. Reported gender differences in ASD comprised more externalizing behaviors among males and more internalizing behaviors in females.Conclusion: The ICF(-CY) categories derived from international expert opinions indicate that the impact of ASD on functioning extends far beyond core symptom domains
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| 10. |
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| 11. |
- Falck-Ytter, Terje
(författare)
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Face inversion effects in autism : a combined looking time and pupillometric study
- 2008
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Ingår i: Autism research. - : Wiley. - 1939-3806 .- 1939-3792. ; 1:5, s. 297-306
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Tidskriftsartikel (refereegranskat)abstract
- Previous research has found that in typically developing individuals, behavioral performance declines and electrophysiological brain responses are altered when the face is inverted. Such effects are generally attributed to disruption of configural information. Individuals with autism spectrum disorder (ASD) have been found to show less pronounced inversion effects, a result in line with the view that featural processing of faces is enhanced in ASD. No study has determined if, or how, such local bias is reflected in the eye movements used in face observation. In this eye tracking study, looking time and pupil dilation were investigated during the presentation of upright and inverted faces in preschool children with ASD and typically developing preschoolers. On average, both children with ASD and typically developing children looked less at the face and the eye areas during inverted presentations than during upright presentations. Nevertheless, individuals with ASD had a stronger tendency than typically developing children to look at the same face features during upright and inverted presentations, which is suggestive of a local bias. Pupil dilation, reflecting increased processing load, was larger for inverted than upright faces in the ASD group only, and pupillary inversion effects were stronger in ASD than in typically developing children.
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| 12. |
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| 13. |
- Hosie, S., et al.
(författare)
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Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3
- 2019
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 12:7, s. 1043-1056
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Tidskriftsartikel (refereegranskat)abstract
- Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3(R451C)). Assessing in vivo gut dysfunction, we report faster small intestinal transit in NL3(R451C) compared to wild-type mice. Using an ex vivo colonic motility assay, we show increased sensitivity to GABA(A) receptor modulation in NL3(R451C) mice, a well-established Central Nervous System (CNS) feature associated with this mutation. We further show increased numbers of small intestine myenteric neurons in NL3(R451C) mice. Although we observed altered sensitivity to GABA(A) receptor modulators in the colon, there was no change in colonic neuronal numbers including the number of GABA-immunoreactive myenteric neurons. We further identified altered fecal microbial communities in NL3(R451C) mice. These results suggest that the R451C mutation affects small intestinal and colonic function and alter neuronal numbers in the small intestine as well as impact fecal microbes. Our findings identify a novel GI phenotype associated with the R451C mutation and highlight NL3(R451C) mice as a useful preclinical model of GI dysfunction in autism. Autism Res 2019, 12: 1043-1056. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary People with autism commonly experience gastrointestinal problems, however the cause is unknown. We report gut symptoms in patients with the autism-associated R451C mutation encoding the neuroligin-3 protein. We show that many of the genes implicated in autism are expressed in mouse gut. The neuroligin-3 R451C mutation alters the enteric nervous system, causes gastrointestinal dysfunction, and disrupts gut microbe populations in mice. Gut dysfunction in autism could be due to mutations that affect neuronal communication.
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| 14. |
- Kim, Jong Yeob, et al.
(författare)
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Association between autism spectrum disorder and inflammatory bowel disease: A systematic review and meta-analysis
- 2022
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Ingår i: Autism Research. - : WILEY. - 1939-3792 .- 1939-3806. ; 15:2, s. 340-352
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Forskningsöversikt (refereegranskat)abstract
- Children with autism spectrum disorder (ASD) are frequently diagnosed with co-occurring medical conditions including inflammatory bowel disease (IBD). To investigate the association, we conducted a systematic review registered in PROSPERO (ID:CRD42021236263) with a random-effects meta-analysis. We searched PubMed, Embase, and PsycInfo (last search on January 25, 2021), and manually searched relevant publications. We included observational studies measuring the association between ASD and IBD. The primary outcome was the association (odds ratio, OR) between ASD and later development of IBD. Sensitivity analyses were conducted by quality, confounding adjustment, and study design. We performed meta-regression analyses and assessed heterogeneity, publication bias, and quality of studies with the Newcastle-Ottawa Scale. Overall, we included six studies consisting of eight datasets, including over 11 million participants. We found that ASD was significantly associated with subsequent incident IBD (any IBD, OR = 1.66, 95% confidence interval[CI] = 1.25-2.21, p < 0.001; ulcerative colitis, OR = 1.91, 95%CI = 1.41-2.6, p < 0.001; Crohns disease, OR = 1.47, 95%CI = 1.15-1.88, p = 0.002). ASD and IBD were also associated regardless of temporal sequence of diagnosis (any IBD, OR = 1.57, 95%CI = 1.28-1.93, p < 0.001; ulcerative colitis, OR = 1.7, 95%CI = 1.36-2.12, p < 0.001; Crohns disease, OR = 1.37, 95%CI = 1.12-1.69, p = 0.003). Sensitivity analyses confirmed the findings of the main analysis. Meta-regression did not identify any significant moderators. Publication bias was not detected. Quality was high in four datasets and medium in four. In conclusion, our findings highlight the need to screen for IBD in individuals with ASD, and future research should identify who, among those with ASD, has the highest risk of IBD, and elucidate the shared biological mechanisms between ASD and IBD.
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| 15. |
- Kleberg, Johan Lundin, et al.
(författare)
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Reduced visual disengagement but intact phasic alerting in young children with autism
- 2017
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 10:3, s. 539-545
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Tidskriftsartikel (refereegranskat)abstract
- Children with autism may have difficulties with visual disengagement-that is, inhibiting current fixations and orienting to new stimuli in the periphery. These difficulties may limit these children's ability to flexibly monitor the environment, regulate their internal states, and interact with others. In typical development, visual disengagement is influenced by a phasic alerting network that increases the processing speed of the visual system after salient events. The role of the phasic alerting effect in the putative atypical disengagement performance in autism spectrum disorder (ASD) is not known. Here, we compared visual disengagement in six-year-old children with autism (N = 18) and typically developing children (N = 17) matched for age and nonverbal IQ. We manipulated phasic alerting during a visual disengagement task by adding spatially nonpredictive sounds shortly before the onset of the visual peripheral targets. Children with ASD showed evidence of delayed disengagement compared to the control group. Sounds facilitated visual disengagement similarly in both groups, suggesting typical modulation by phasic alerting in ASD in the context of this task. These results support the view that atypical visual disengagement in ASD is related to other factors than atypicalities in the alerting network. Autism Res 2016.
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| 16. |
- Kleberg, Johan L., et al.
(författare)
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Visual orienting in children with autism : Hyper-responsiveness to human eyes presented after a brief alerting audio-signal, but hyporesponsiveness to eyes presented without sound
- 2017
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 10:2, s. 246-250
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Tidskriftsartikel (refereegranskat)abstract
- Autism Spectrum Disorder (ASD) has been associated with reduced orienting to social stimuli such as eyes, but the results are inconsistent. It is not known whether atypicalities in phasic alerting could play a role in putative altered social orienting in ASD. Here, we show that in unisensory (visual) trials, children with ASD are slower to orient to eyes (among distractors) than controls matched for age, sex, and nonverbal IQ. However, in another condition where a brief spatially nonpredictive sound was presented just before the visual targets, this group effect was reversed. Our results indicate that orienting to social versus nonsocial stimuli is differently modulated by phasic alerting mechanisms in young children with ASD.
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| 17. |
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| 18. |
- Li, Danyang, et al.
(författare)
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Rare variants in the outcome of social skills group training for autism
- 2022
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 15:3, s. 434-446
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Tidskriftsartikel (refereegranskat)abstract
- Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (β = 9.35; p = 0.036), while no such association was observed for SSGT (β = −2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (β = 8.30, p = 0.0044) or more beneficial (β = −6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD.
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| 19. |
- Mahdi, Soheil, et al.
(författare)
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An international qualitative study of functioning in autism spectrum disorder using the World Health Organization international classification of functioning, disability and health framework
- 2018
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 11:3, s. 463-475
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Tidskriftsartikel (refereegranskat)abstract
- This is the third in a series of four empirical studies designed to develop International Classification of Functioning, Disability and Health (ICF) Core Sets for Autism Spectrum Disorder (ASD). The present study aimed to describe functioning in ASD (as operationalized by the ICF) derived from the perspectives of diagnosed individuals, family members, and professionals. A qualitative study using focus groups and semi-structured interviews were conducted with 19 stakeholder groups (N = 90) from Canada, India, Saudi Arabia, South Africa, and Sweden. Meaningful concepts from the focus groups and individual interviews were linked to ICF categories using a deductive qualitative approach with standardized linking procedures. The deductive qualitative content analysis yielded meaningful functioning concepts that were linked to 110 ICF categories across all four ICF components. Broad variation of environmental factors and activities and participation categories were identified in this study, while body functions consisted mainly of mental functions. Body structures were sparsely mentioned by the participants. Positive aspects of ASD included honesty, attention to detail, and memory. The experiences provided by international stakeholders support the need to understand individuals with ASD in a broader perspective, extending beyond diagnostic criteria into many areas of functioning and environmental domains. This study is part of a larger systematic effort that will provide the basis to define ICF Core Sets for ASD, from which assessment tools can be generated for use in clinical practice, research, and health care policy making.
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| 20. |
- McPhillips, Martin, et al.
(författare)
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Motor deficits in children with autism spectrum disorder : a cross-syndrome study
- 2014
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Ingår i: Autism Research. - Hoboken, USA : Wiley-Blackwell. - 1939-3792 .- 1939-3806. ; 7:6, s. 664-676
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Tidskriftsartikel (refereegranskat)abstract
- Recent research suggests that children with autism spectrum disorder (ASD) experience some level of motor difficulty, and that this may be associated with social communication skills. However, other studies show that children with language impairments, but without the social communication problems, are at risk of motor difficulties as well. The aim of the present study was to determine if children with ASD have syndrome-specific motor deficits in comparison to children with specific language impairment (SLI). We used an independent groups design with three groups of children (8-10 years old) matched on age and nonverbal IQ: an ASD group, an SLI group, and a typically developing (TD) group. All of the children completed an individually administered, standardized motor assessment battery. We found that the TD group demonstrated significantly better motor skills than either the ASD or SLI groups. Detailed analyses of the motor subtests revealed that the ASD and SLI groups had very similar motor profiles across a range of fine and gross motor skills, with one exception. We conclude that children with ASD, and SLI, are at risk of clinically significant motor deficits. However, future behavioral and neurological studies of motor skills in children with ASD should include an SLI comparison group in order to identify possible autism-specific deficits.
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| 21. |
- Mohammad, Salahuddin, et al.
(författare)
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Well-being spectrum traits are associated with polygenic scores for autism
- 2023
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 16:10, s. 1891-1902
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Tidskriftsartikel (refereegranskat)abstract
- Individuals with autism spectrum disorder (ASD) tend to experience lower well-being as demonstrated mostly for children and adolescents in epidemiological studies. A further investigation of inclusive well-being, in terms of five well-being spectrum (5-WBS) traits including neuroticism, depression, loneliness, life satisfaction, and positive affect, among adults with ASD may deepen our understanding of their well-being, and lead to the possibility to further modify societal supportive mechanisms for individuals with ASD. This study aims to investigate if a genetic predisposition for ASD is associated with 5-WBS traits using polygenic risk score (PRS) analysis. PRS for ASD were calculated based on the latest genome-wide association study of ASD by the Psychiatric Genetics Consortium (18,381 cases, 27,969 controls) and were created in the independent cohort UK Biobank. Regression analyses were performed to investigate the association between ASD PRS and 5-WBS traits in the UK Biobank population including 337,423 individuals. ASD PRS were significantly associated with all 5-WBS traits, showing a positive association with the negative WBS traits, neuroticism (max R2 = 0.04%, p < 1 × 10−4), depression (max R2 = 0.06%, p < 1 × 10−4), loneliness (max R2 = 0.04%, p < 1 × 10−4), and a negative association with the positive WBS traits, life satisfaction (max R2 = 0.08%, p < 1 × 10−4), positive affect (max R2 = 0.10%, p < 1 × 10−4). The findings suggest that adults carrying a high load of risk single nucleotide peptides (SNPs) for ASD are more likely to report decreased well-being. The study demonstrates a considerable connection between susceptibility to ASD, its underlying genetic etiology and well-being.
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| 22. |
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| 23. |
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| 24. |
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| 25. |
- Piatti, Alessandra, et al.
(författare)
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Neural correlates of response to joint attention in 2-to-5-year-olds in relation to ASD and social-communicative abilities: An fNIRS and behavioral study
- 2024
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Ingår i: Autism Research. - : WILEY. - 1939-3792 .- 1939-3806.
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) is associated with life-long challenges with social cognition, and one of its earliest and most common manifestations is atypical joint attention, which is a pivotal skill in social-cognitive and linguistic development. Early interventions for ASD children often focus on training initiation of joint attention (IJA) and response to joint attention bids (RJA), which are important for social communication and cognition. Here, we used functional near-infrared spectroscopy and behavioral measures to test typically developing (TD, n = 17) and ASD children (n = 18), to address the relationship between the neural correlates of RJA and social-communicative behavior. Group-level differences were present for RJA-specific activation over right temporal sites, where TD children showed higher levels of activation during RJA than ASD children, whereas the two groups did not differ in the control condition. Correlations between neural activation and behavioral traits suggest that, in ASD children, neural activation during RJA is related to the frequency of RJA behavior when the former is measured over left temporal sites, and to social affect symptoms when considered for right temporal sites. Possible implications of the evidenced correlations are discussed.
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| 26. |
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| 27. |
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| 28. |
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| 29. |
- Stevanovic, D., et al.
(författare)
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Measurement invariance of the Childhood Autism Rating Scale (CARS) across six countries
- 2021
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 14:12, s. 2544-2554
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Tidskriftsartikel (refereegranskat)abstract
- The Childhood Autism Rating Scale (CARS) is a simple and inexpensive tool for Autism spectrum disorder (ASD) assessments, with evidenced psychometric data from different countries. However, it is still unclear whether ASD symptoms are measured the same way across different societies and world regions with this tool, since data on its cross-cultural validity are lacking. This study evaluated the cross-cultural measurement invariance of the CARS among children with ASD from six countries, for whom data were aggregated from previous studies in India (n = 101), Jamaica (n = 139), Mexico (n = 72), Spain (n = 99), Turkey (n = 150), and the United States of America (n = 186). We analyzed the approximate measurement invariance based on Bayesian structural equation modeling. The model did not fit the data and its measurement invariance did not hold, with all items found non-invariant across the countries. Items related to social communication and interaction (i.e., relating to people, imitation, emotional response, and verbal and nonverbal communication) displayed lower levels of cross-country non-invariance compared to items about stereotyped behaviors/sensory sensitivity (i.e., body and object use, adaptation to change, or taste, smell, and touch response). This study found that the CARS may not provide cross-culturally valid ASD assessments. Thus, cross-cultural comparisons with the CARS should consider first which items operate differently across samples of interest, since its cross-cultural measurement non-invariance could be a source of cross-cultural variability in ASD presentations. Additional studies are needed before drawing valid recommendations in relation to the cultural sensitivity of particular items.
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| 30. |
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| 31. |
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| 32. |
- Stickley, Andrew, et al.
(författare)
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Assessment of Autistic Traits in Children Aged 2 to 4½ Years With the Preschool Version of the Social Responsiveness Scale (SRS-P) : Findings from Japan
- 2017
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 10:5, s. 852-865
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Tidskriftsartikel (refereegranskat)abstract
- The recent development and use of autism measures for the general population has led to a growing body of evidence which suggests that autistic traits are distributed along a continuum. However, as most existing autism measures were designed for use in children older than age 4, to date, little is known about the autistic continuum in children younger than age 4. As autistic symptoms are evident in the first few years, to address this research gap, the current study tested the preschool version of the Social Responsiveness Scale (SRS-P) in children aged 2 to 4½ years in clinical (N = 74, average age 40 months, 26-51 months) and community settings (N = 357, average age 39 months, 25-50 months) in Japan. Using information obtained from different raters (mothers, other caregivers, and teachers) it was found that the scale demonstrated a good degree of internal consistency, inter-rater reliability and test-retest reliability, and a satisfactory degree of convergent validity for the clinical sample when compared with scores from diagnostic "gold standard" autism measures. Receiver operating characteristic analyses and the group comparisons also showed that the SRS-P total score discriminated well between children with autism spectrum disorder (ASD) and those without ASD. Importantly, this scale could identify autistic symptoms or traits distributed continually across the child population at this age irrespective of the presence of an ASD diagnosis. These findings suggest that the SRS-P might be a sensitive instrument for case identification including subthreshold ASD, as well as a potentially useful research tool for exploring ASD endophenotypes. Autism Res 2016.
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| 33. |
- Takahashi, H., et al.
(författare)
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Stability of the acoustic startle response and its modulation in children with typical development and those with autism spectrum disorders : A one-year follow-up
- 2017
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Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 10:4, s. 673-679
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Tidskriftsartikel (refereegranskat)abstract
- Auditory hyper-reactivity is a common sensory-perceptual abnormality that interrupts behavioral adaptations in autism spectrum disorders (ASD). Recently, prolonged acoustic startle response (ASR) latency and hyper-reactivity to weak acoustic stimuli were reported in children with ASD. Indexes of ASR and its modulation are known to be stable biological markers for translational research in the adult population. However, little is known about the stability of these indexes in children. Thus, the objective of our study was to investigate the stability of neurophysiological ASR indexes in children with ASD and typical development (TD). Participants included 12 children with ASD and 24 with TD. Mean startle magnitudes to acoustic stimuli presented at 65-105 dB in increments of 10 dB were analyzed. Average peak startle latency (PSL), ASR modulation of habituation, and prepulse inhibition were also analyzed. These startle measures were examined after a follow-up period of 15.7±5.1 months from baseline. At both baseline and in the follow-up period, children with ASD had significantly greater startle magnitudes to weak stimuli of 65-85 dB and more prolonged PSL compared with controls. Intraclass correlation coefficients for these ASR measures between both periods were 0.499-0.705. None of the ASR measures differed significantly between the two periods. Our results suggest that prolonged PSL and greater startle magnitudes to weak stimuli in children with ASD might serve as moderately stable neurophysiological indexes of ASD.
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| 34. |
- Tamouza, Ryad, et al.
(författare)
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HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.
- 2020
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Ingår i: Autism research : official journal of the International Society for Autism Research. - : Wiley. - 1939-3806. ; 13:2, s. 182-186
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASD) comprises heterogeneous neurodevelopmental conditions with symptom onset usually during infancy. However, about 10%-30% of affected cases experience a loss of language and social skills around 18-30months, so-called regressive autism. In this subset with regression, immune dysfunctions including inflammation and autoimmunity have been proposed to be at risk factors. Given the implication of the human histocompatibility antigens (HLA) system in various aspects of immune responses, including autoimmunity, and in ASD, we investigate here the distribution of the HLA Class I and Class II haplotypes in 131 children with ASD meeting DSM-IV TR criteria, with and without regression. We found that 62 of the 98 non-regressive ASD patients carry the HLA-DPA1*01-DPB1*04 sub-haplotype as compared to 14 of the 33 patients with regression (63% vs. 43% respectively, Pc =0.02), suggesting that this HLA haplotype may exert a protective effect against regression. Similarly, the HLA-DPA1*01-DPB1*04 has also been found to be more represented in healthy controls as compared to patients affected with common nonpsychiatric autoimmune disorders. Overall our findings suggest a possible involvement of HLA polymorphism in the context of regressive ASD. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Immune dysfunctions including inflammatory and autoimmune processes have been reported in autism, particularly in regressive forms. In this study, we analyzed the distribution of HLA haplotypes among children with autism spectrum disorder (ASD), with and without regression from Sweden and observed that HLA-DPA1*01-DPB1*04 sub-haplotype was less represented in patients with regressive autism as compared with those without regression. Such possible protective effect, also observed in other common autoimmune disorders, may constitute a link between HLA-mediated immune processes and regressive ASD.
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| 35. |
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| 36. |
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| 37. |
- Warner, Georgina, et al.
(författare)
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Autism characteristics and behavioural disturbances in ~ 500 children with Down's syndrome in England and Wales.
- 2014
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 7:4, s. 433-41
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Tidskriftsartikel (refereegranskat)abstract
- Recent research shows that a significant minority of children with Down's syndrome (DS) also meet diagnostic criteria for an autism spectrum disorder (ASD). The present study investigated what proportion of children aged 6-15 years with a confirmed diagnosis of DS in England and Wales display autistic-type behaviours, and explored the characteristics of this group of children. The Social Communication Questionnaire (SCQ) was used to screen for autism characteristics and the Strengths and Difficulties Questionnaire (SDQ) to explore behavioural difficulties. The proportion of children who met the cut-off score for ASD on the SCQ (total score ≥ 15) was 37.7% (95% CI: 33.4-42.0%); for autism (total score ≥ 22) the proportion was 16.5% (95% CI: 13.2-19.8%). Children who met the cut-off for ASD were significantly more likely to be reported as having emotional symptoms, conduct problems and hyperactivity on the SDQ than children who scored well below cut-off (total score < 10). However, the profile of their autism characteristics on the SCQ was atypical compared with individuals with idiopathic ASD. The pervasiveness of ASD in children with DS in England and Wales is substantially higher than in the general population. These children also experience significantly greater behavioural problems than children with DS only. Early detection of autism characteristics is important for appropriate intervention. However, the unusual profile of autism characteristics in this group may affect the recognition of the disorder and hinder the implementation of appropriate interventions.
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| 38. |
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| 39. |
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| 40. |
- Åsberg Johnels, Jakob, 1978, et al.
(författare)
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Autism and emotional face-viewing.
- 2017
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Ingår i: Autism research : official journal of the International Society for Autism Research. - : Wiley. - 1939-3806. ; 10:5, s. 901-910
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Tidskriftsartikel (refereegranskat)abstract
- Atypical patterns of face-scanning in individuals with autism spectrum disorder (ASD) may contribute to difficulties in social interactions, but there is little agreement regarding what exactly characterizes face-viewing in ASD. In addition, little research has examined how face-viewing is modulated by the emotional expression of the stimuli, in individuals with or without ASD. We used eye-tracking to explore viewing patterns during perception of dynamic emotional facial expressions in relatively large groups of individuals with (n=57) and without ASD (n=58) and examined diagnostic- and age-related effects, after subgrouping children and adolescents (≤18 years), on the one hand, and adults (>18 years), on the other. Results showed that children/adolescents with ASD fixated the mouth of happy and angry faces less than their typically developing (TD) peers, and conversely looked more to the eyes of happy faces. Moreover, while all groups fixated the mouth in happy faces more than in other expressions, children/adolescents with ASD did relatively less so. Correlation analysis showed a similar lack of relative orientation toward the mouth of smiling faces in TD children/adolescents with high autistic traits, as measured by the Autism-Spectrum Quotient (AQ). Among adults, participants with ASD attended less to the eyes only for neutral faces. Our study shows that the emotional content of a face influences gaze behavior, and that this effect is not fully developed in children/adolescents with ASD. Interestingly, this lack of differentiation observed in the younger ASD group was also seen in younger TD individuals with higher AQ scores. Autism Res 2016. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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| 41. |
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