1. Canigueral R, Hamilton AFC. {{Do Beliefs About Whether Others Can See Modulate Social Seeking in Autism?}}. {Journal of autism and developmental disorders}. 2018.
Autistic people process gaze differently than typical people, but it is not yet clear if these differences lie in the processing of eye-shapes or the belief in whether others can see (perceptual mentalizing). We aimed to investigate whether these two models of gaze processing modulate social seeking in typical and autistic adults. We measured preferences of participants to view videos of an actress with visible or hidden eyes, who can or cannot see out. While typical participants preferred videos where the actress can see through and has visible eyes, autistic people showed no preference for these videos. These findings are discussed in the context of perceptual mentalizing and the social motivation theory of autism.
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2. Carter Leno V, Vitoratou S, Kent R, Charman T, Chandler S, Jones CR, Happe F, Baird G, Pickles A, Simonoff E. {{Exploring the neurocognitive correlates of challenging behaviours in young people with autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2018: 1362361318769176.
Many young people with autism spectrum disorder display ‘challenging behaviours’, characterised by externalising behaviour and self-injurious behaviours. These behaviours can have a negative impact on a young person’s well-being, family environment and educational achievement. However, the development of effective interventions requires greater knowledge of autism spectrum disorder-specific models of challenging behaviours. Autism spectrum disorder populations are found to demonstrate impairments in different cognitive domains, namely social domains, such as theory of mind and emotion recognition, but also non-social domains such as executive functioning and sensory or perceptual processing. Parent-rated self-injurious behaviour and externalising behaviours, and neurocognitive performance were assessed in a population-derived sample of 100 adolescents with autism spectrum disorder. Structural equation modelling was used to estimate associations between cognitive domains (theory of mind, emotion recognition, executive functioning and perceptual processing) and self-injurious behaviour and externalising behaviours. Poorer theory of mind was associated with increased self-injurious behaviour, whereas poorer perceptual processing was associated with increased externalising behaviours. These associations remained when controlling for language ability. This is the first analysis to examine how a wide range of neurocognitive domains relate to challenging behaviours and suggests specific domains that may be important targets in the development of interventions in adolescents with autism spectrum disorder.
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3. Dvornek NC, Ventola P, Duncan JS. {{COMBINING PHENOTYPIC AND RESTING-STATE FMRI DATA FOR AUTISM CLASSIFICATION WITH RECURRENT NEURAL NETWORKS}}. {Proceedings IEEE International Symposium on Biomedical Imaging}. 2018; 2018: 725-8.
Accurate identification of autism spectrum disorder (ASD) from resting-state functional magnetic resonance imaging (rsfMRI) is a challenging task due in large part to the heterogeneity of ASD. Recent work has shown better classification accuracy using a recurrent neural network with rsfMRI time-series as inputs. However, phenotypic features, which are often available and likely carry predictive information, are excluded from the model, and combining such data with rsfMRI into the recurrent neural network is not a straightforward task. In this paper, we present several methodologies for incorporating phenotypic data with rsfMRI into a single deep learning framework for classifying ASD. We test the proposed architectures using a cross-validation framework on the large, heterogeneous first cohort from the Autism Brain Imaging Data Exchange. Our best model achieved an accuracy of 70.1%, outperforming prior work.
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4. Esler AN, Stronach ST, Jacob S. {{Insistence on Sameness and Broader Autism Phenotype in Simplex Families with Autism Spectrum Disorder}}. {Autism research : official journal of the International Society for Autism Research}. 2018.
Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Previous research has suggested that insistence on sameness (IS) may be a heritable trait in autism spectrum disorder (ASD). The study examined whether children with high levels of IS had parents with IS tendencies. A small relationship was found between parent and child measures of IS. Future research is needed on measurement of insistence on sameness across individuals with and without ASD to further examine this relationship and improve understanding of the genetics of ASD.
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5. Feldman JI, Dunham K, Cassidy M, Wallace MT, Liu Y, Woynaroski TG. {{Audiovisual multisensory integration in individuals with autism spectrum disorder: A systematic review and meta-analysis}}. {Neuroscience and biobehavioral reviews}. 2018; 95: 220-34.
An ever-growing literature has aimed to determine how individuals with autism spectrum disorder (ASD) differ from their typically developing (TD) peers on measures of multisensory integration (MSI) and to ascertain the degree to which differences in MSI are associated with the broad range of symptoms associated with ASD. Findings, however, have been highly variable across the studies carried out to date. The present work systematically reviews and quantitatively synthesizes the large literature on audiovisual MSI in individuals with ASD to evaluate the cumulative evidence for (a) group differences between individuals with ASD and TD peers, (b) correlations between MSI and autism symptoms in individuals with ASD and (c) study level factors that may moderate findings (i.e., explain differential effects) observed across studies. To identify eligible studies, a comprehensive search strategy was employed using the ProQuest search engine, PubMed database, forwards and backwards citation searches, direct author contact, and hand-searching of select conference proceedings. A significant between-group difference in MSI was evident in the literature, with individuals with ASD demonstrating worse audiovisual integration on average across studies compared to TD controls. This effect was moderated by mean participant age, such that between-group differences were more pronounced in younger samples. The mean correlation between MSI and autism and related symptomatology was also significant, indicating that increased audiovisual integration in individuals with ASD is associated with better language/communication abilities and/or reduced autism symptom severity in the extant literature. This effect was moderated by whether the stimuli were linguistic versus non-linguistic in nature, such that correlation magnitudes tended to be significantly greater when linguistic stimuli were utilized in the measure of MSI. Limitations and future directions for primary and meta-analytic research are discussed.
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6. Intaite M, Georgescu AL, Noreika V, von Saldern MA, Vogeley K, Falter-Wagner CM. {{Adults with autism spectrum condition have atypical perception of ambiguous figures when bottom-up and top-down interactions are incongruous}}. {Autism : the international journal of research and practice}. 2018: 1362361318782221.
We examined the perception of an ambiguous squares stimulus evoking bistable perception in a sample of 31 individuals with autistic spectrum condition and 22 matched typical adults. The perception of the ambiguous figure was manipulated by adaptation to unambiguous figures and/or by placing the ambiguous figure into a context of unambiguous figures. This resulted in four conditions testing the independent and combined (congruent and incongruent) manipulations of adaptation (bottom-up) and spatial context (top-down) effects. The strength of perception, as measured by perception of the first reported orientation of the ambiguous stimulus, was affected comparably between groups. Nevertheless, the strength of perception, as measured by perceptual durations, was affected differently between groups: the perceptual effect was strongest for the autistic spectrum condition group when combined bottom-up and top-down conditions were congruent. In contrast, the strength of the perceptual effect in response to the same condition in the typical adults group was comparable to the adaptation, but stronger than both the context and the incongruent combined bottom-up and top-down conditions. Furthermore, the context condition was stronger than the incongruent combined bottom-up and top-down conditions for the typical adults group. Thus, our findings support the view of stimulus-specific top-down modulation in autistic spectrum condition.
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7. Morales-Chavez MC, Villarroel-Dorrego M, Salas V. {{Salivary Factors Related to Caries in Children with Autism}}. {The Journal of clinical pediatric dentistry}. 2018.
Many predisposing factors to caries are present in autism, however, it is unlikely that autistic patients exhibit higher caries indexes than the rest of the population. OBJECTIVE: To evaluate salivary factors related to caries in autistic patients. STUDY DESIGN: 34 autistics and 34 controls aged between 4-13 years old were included. Decayed, missing, and filled teeth (DMFT) index and oral hygiene simplified index (IHO-S) were assessed, as well as, pH, total proteins, phosphate, calcium and IgA in saliva. All data were analyzed by chi(2) and Student t tests for independent samples. P values<0.05 were considered statistically significant. RESULTS: Autistic patients showed less caries than controls (pLien vers le texte intégral (Open Access ou abonnement)
8. Obara T, Ishikuro M, Tamiya G, Ueki M, Yamanaka C, Mizuno S, Kikuya M, Metoki H, Matsubara H, Nagai M, Kobayashi T, Kamiyama M, Watanabe M, Kakuta K, Ouchi M, Kurihara A, Fukuchi N, Yasuhara A, Inagaki M, Kaga M, Kure S, Kuriyama S. {{Potential identification of vitamin B6 responsiveness in autism spectrum disorder utilizing phenotype variables and machine learning methods}}. {Scientific reports}. 2018; 8(1): 14840.
We investigated whether machine learning methods could potentially identify a subgroup of persons with autism spectrum disorder (ASD) who show vitamin B6 responsiveness by selected phenotype variables. We analyzed the existing data from our intervention study with 17 persons. First, we focused on signs and biomarkers that have been identified as candidates for vitamin B6 responsiveness indicators. Second, we conducted hypothesis testing among these selected variables and their combinations. Finally, we further investigated the results by conducting cluster analyses with two different algorithms, affinity propagation and k-medoids. Statistically significant variables for vitamin B6 responsiveness, including combination of hypersensitivity to sound and clumsiness, and plasma glutamine level, were included. As an a priori variable, the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) scores was also included. The affinity propagation analysis showed good classification of three potential vitamin B6-responsive persons with ASD. The k-medoids analysis also showed good classification. To our knowledge, this is the first study to attempt to identify subgroup of persons with ASD who show specific treatment responsiveness using selected phenotype variables. We applied machine learning methods to further investigate these variables’ ability to identify this subgroup of ASD, even when only a small sample size was available.
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9. Sakaguchi Y, Uehara T, Suzuki H, Sakamoto Y, Fujiwara M, Kosaki K, Takenouchi T. {{Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis}}. {American journal of medical genetics Part A}. 2018.
NCOR1 (nuclear receptor corepressor 1) is a transcriptional coregulatory protein that regulates the balance between histone acetylation and histone deacetylation. NCOR1 is listed as one of the 3,230 dose-sensitive genes which very rarely show truncating mutations in the pediatric population without severe diseases, even in a heterozygous state. In a large cohort study of intellectual disability/autism spectrum disorder, splicing mutations were identified in two individuals, however, the truncating effects of these splicing mutations have not been examined at the transcription level. We describe a 3-year-old girl who had behavior consistent with autism spectrum disorder, a bifid uvula, and early-onset scoliosis. Trio exome analysis showed a de novo heterozygous mutation at the splice donor site in exon 19 of NCOR1, c.2182 + 1G > T (NM_00190440.1). Reverse transcription polymerase chain reaction assay confirmed that the splicing mutation results in skipping of exon 19, a shift in the reading frame and then to nonsense-mediated mRNA decay. This patient represents the first patient who has had unequivocal documentation of haploinsufficient for the NCOR1 gene. Based on our observations, we conclude that NCOR1 is indeed a human disease-causing gene. We further suggest that bifid uvula, a micro form of cleft palate, may well be causally related to de novo NCOR1 haploinsufficiency, in that a previously reported deletion mapping study of atypical Smith-Magenis syndrome patients with large deletions and cleft palate identified that NCOR1, the only loss-of-function-intolerant gene within the region, is located in the smallest region of overlap.
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10. Scherf KS, Griffin JW, Judy B, Whyte EM, Geier CF, Elbich D, Smyth JM. {{Improving sensitivity to eye gaze cues in autism using serious game technology: study protocol for a phase I randomised controlled trial}}. {BMJ open}. 2018; 8(9): e023682.
INTRODUCTION: Autism spectrum disorder (ASD) is characterised by impairments in social communication. Core symptoms are deficits in social looking behaviours, including limited visual attention to faces and sensitivity to eye gaze cues. We designed an intervention game using serious game mechanics for adolescents with ASD. It is designed to train individuals with ASD to discover that the eyes, and shifts in gaze specifically, provide information about the external world. We predict that the game will increase understanding of gaze cues and attention to faces. METHODS AND ANALYSIS: The Social Games for Adolescents with Autism (SAGA) trial is a preliminary, randomised controlled trial comparing the intervention game with a waitlist control condition. 34 adolescents (10-18 years) with ASD with a Full-Scale IQ between 70 and 130 and a minimum second grade reading level, and their parents, will be randomly assigned (equally to intervention or the control condition) following baseline assessments. Intervention participants will be instructed to play the computer game at home on a computer for ~30 min, three times a week. All families are tested in the lab at baseline and approximately 2 months following randomisation in all measures. Primary outcomes are assessed with eye tracking to measure sensitivity to eye gaze cues and social visual attention to faces; secondary outcomes are assessed with questionnaires to measure social skills and autism-like behaviours. The analyses will focus on evaluating the feasibility, safety and preliminary effectiveness of the intervention. ETHICS AND DISSEMINATION: SAGA is approved by the Institutional Review Board at Pennsylvania State University (00005097). Findings will be disseminated via scientific conferences and peer-reviewed journals and to participants via newsletter. The intervention game will be available to families in the control condition after the full data are collected and if analyses indicate that it is effective. TRIAL REGISTRATION NUMBER: NCT02968225.
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11. Urbano MR, Teal Raffaele C, Kreiser NL, Flaherty JM, Hartmann K. {{Clinical considerations for the inclusion of individuals with autism spectrum disorder in clinical trials}}. {Progress in neuro-psychopharmacology & biological psychiatry}. 2018; 89: 295-302.
Diagnoses of autism spectrum disorder (ASD) have increased considerably over the past 20years. Because of this rise and the inherent complexity of ASD, there is a need for an increased number of scientifically valid basic and clinical research studies addressing this disorder. This manuscript serves as an introduction to the clinical presentation of ASD as well as the unique challenges and modifications required to conduct clinical research with this population. This includes detailing the current diagnostic criteria, process of receiving an ASD diagnosis, information on assessment measures, and special considerations when developing research. It is the hope that this information will provide researchers interested in conducting clinical trials with those with ASD with baseline information and considerations when developing their research topics and methodology.
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12. Vause T, Jaksic H, Neil N, Frijters JC, Jackiewicz G, Feldman M. {{Functional Behavior-Based Cognitive-Behavioral Therapy for Obsessive Compulsive Behavior in Children with Autism Spectrum Disorder: A Randomized Controlled Trial}}. {Journal of autism and developmental disorders}. 2018.
Children with autism spectrum disorder (ASD) experience obsessions and compulsions similar to those specified in DSM-5 for obsessive compulsive disorder yet little controlled research exists on treating these behaviours. Thirty-seven children (7-13 years old) were randomly assigned to a 9-week functional behavior-based cognitive behavior therapy (Fb-CBT) or Treatment As Usual. Independent assessors administered measures pre- and post-treatment and at 6-months. Two primary outcome measures indicated statistically significant differences between groups, with large corrected effect sizes (Hedge’s g = 1.00 and 1.15, respectively). This is the first known RCT to exclusively treat obsessive compulsive behaviors (OCBs) in children and youth with high functioning (IQ >/= 70) ASD, and suggests that Fb-CBT treatment shows promise in decreasing these behaviors and improving quality of life. Trial Registration This trial was registered with ClinicalTrials.gov (ID: NCT03123146).
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13. Young A, Nicholas DB, Chamberlain SP, Suapa N, Gale N, Bailey AJ. {{Exploring and building autism service capacity in rural and remote regions: Participatory action research in rural Alberta and British Columbia, Canada}}. {Autism : the international journal of research and practice}. 2018: 1362361318801340.
Based in participatory action research, this project had the aim of building capacity in treatment and support for individuals and families impacted by autism spectrum disorder in remote and rural communities of Canada. Communities were selected based on their rurality and willingness to engage in change efforts for enhanced service delivery within their region. Fifteen discussion groups with key stakeholders were convened in seven communities with ~200 community stakeholders. Based on analyses of these data from the stakeholders, themes were distilled through interpretive description, which in turn were presented to community stakeholders for reflection and collective action. Findings indicate broad thematic domains consisting of: insufficient services, protective factors in community, change efforts via collectivity within community, limitations and benefits of residing in rural communities relative to care associated with autism spectrum disorder, a sense of « community » in rural contexts, and engaging in focused dialogue as a pathway to advancement. Opportunities for building capacity for support in autism spectrum disorder emerged within intersecting layers of leadership, contextual factors, and community collaboration. Consistent with participatory action research principles, emerging local knowledge was supported with strategies for improved autism spectrum disorder service development.
