1. Chapman R, Veit W. {{« The essence of autism: face or artefact? »}}. {Mol Psychiatry}. 2020.
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2. Colombo-Dougovito AM, Lee J. {{Social Skill Outcomes Following Physical Activity-Based Interventions for Individuals on the Autism Spectrum: A Scoping Review Spanning Young Childhood Through Young Adulthood}}. {Adapted physical activity quarterly : APAQ}. 2020: 1-32.
Researchers posit that physical activity (PA) settings may provide an increased opportunity for social interaction. However, little consensus exists regarding the construct of social skills. Moreover, little is known about what type or amount of PA is necessary for individuals on the autism spectrum to benefit from this increased interaction. Thus, this scoping review synthesized the components (e.g., design, participants, independent and dependent variables, etc.) and findings of PA-based interventions that included social skill components to identify how interventions have incorporated these skills in different settings. Based on a review of 25 articles, this review revealed a great deal of variability in the types of PA, social skills, and instruments studied, as well as the intensity of intervention delivery in the published findings. No longitudinal studies were identified as a part of the search. These results provide a foundation for the design of effective PA-based interventions that may have an increased impact on the social skills of individuals on the autism spectrum. Future research should employ longitudinal designs to capture the relationship between social skills and PA, as well as to increase the likelihood of capturing change.
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3. Deb SS, Retzer A, Roy M, Acharya R, Limbu B, Roy A. {{The effectiveness of parent training for children with autism spectrum disorder: a systematic review and meta-analyses}}. {BMC Psychiatry}. 2020; 20(1): 583.
BACKGROUND: Various parent training interventions have been shown to have some effect on the symptoms of children with autism. We carried out a systematic review and meta-analyses to assess effectiveness of parental training for children with autism on their symptoms and parental stress. METHODS: Four electronic databases, CINAHL, EMBASE, MEDLINE and PsycINFO were searched until March 2020 for relevant literature. Two reviewers independently screened bibliographies using an eligibility checklist and extracted data using a structured proforma. We have also carried out meta-analyses when data were available for pooling. RESULTS: Seventeen papers from 15 studies were included for data analysis. Fifteen papers showed a positive treatment effect when compared with the control group, although not always significant. Meta-analysis based on pooled data from only two studies in each respective intervention, showed small to moderate treatment effects for three interventions, DIR/Floortime, Pivotal Response and Parent focused training respectively. CONCLUSIONS: As in previous systematic reviews there was a mild to moderate treatment effects of three specific types of interventions respectively. However, it was difficult to draw any definitive conclusion about the effectiveness and generalisability of any intervention because of the wide variation in the interventions, control groups, outcome measures, small sample size, small number of studies in meta-analysis, overlap between the intervention and control procedures used in the included studies. There is an urgent need for experts in various international centres to jointly standardise a parent training intervention for children with autism and carry out a large scale RCT to assess its clinical and economic effectiveness. Research Registry Unique Identifying Number: reviewregistry915.
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4. Frolli A, Ricci MC, Bosco A, Lombardi A, Cavallaro A, Operto FF, Rega A. {{Video Modeling and Social Skills Learning in ASD-HF}}. {Children (Basel, Switzerland)}. 2020; 7(12).
Autism spectrum disorders represent a heterogeneous group of clinical situations, and are mainly represented by a deficit of social communication. In this study, we compare two strategies to enhance communicative/social skills, namely self-video modeling and peer video modeling. The subjects were divided into two groups treated via the method of self-video modeling (group 1) or peer video modeling (group 2). For both groups of subjects affected by ASD-HF (Autism Spectrum Disorder-high-functioning), three different activities were proposed: (a) interacting with a salesperson while making a purchase, (b) initiating and maintaining a conversation with peers, and (c) starting and maintaining an enjoyable activity with a peer. The ability to rapidly accomplish the task was used as the main criteria to appraise the groups’ responses to the proposed activities. In group 1, the use of self-video modeling procedures demonstrated a faster and correct execution of the three proposed tasks (especially task 3) when compared to group 2. In group 2, the use of peer video modeling has instead led to a slower acquisition of abilities to process and perform the tasks. The use of self-video modeling speeds up the acquisition of skills to perform communicative/social tasks, compared to peer video modeling’s slower performance in subjects with ASD-HF. Results could be related to either the amount of time the subject is exposed to the task or to the capacity of ASD-HF subjects to self-value one’s own actions more than others. In our work, we have tried to reset the differences in exposure time. Therefore, self-video modeling is demonstrated to be more effective, as it produces a response to the signification/mirroring characteristic of ASD-HF.
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5. Galvez-Contreras AY, Zarate-Lopez D, Torres-Chavez AL, Gonzalez-Perez O. {{Role of Oligodendrocytes and Myelin in the Pathophysiology of Autism Spectrum Disorder}}. {Brain Sci}. 2020; 10(12).
Autism Spectrum Disorder (ASD) is an early neurodevelopmental disorder that involves deficits in interpersonal communication, social interaction, and repetitive behaviors. Although ASD pathophysiology is still uncertain, alterations in the abnormal development of the frontal lobe, limbic areas, and putamen generate an imbalance between inhibition and excitation of neuronal activity. Interestingly, recent findings suggest that a disruption in neuronal connectivity is associated with neural alterations in white matter production and myelination in diverse brain regions of patients with ASD. This review is aimed to summarize the most recent evidence that supports the notion that abnormalities in the oligodendrocyte generation and axonal myelination in specific brain regions are involved in the pathophysiology of ASD. Fundamental molecular mediators of these pathological processes are also examined. Determining the role of alterations in oligodendrogenesis and myelination is a fundamental step to understand the pathophysiology of ASD and identify possible therapeutic targets.
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6. Lai MC, Hull L, Mandy W, Chakrabarti B, Nordahl CW, Lombardo MV, Ameis SH, Szatmari P, Baron-Cohen S, Happé F, Livingston LA. {{Commentary: ‘Camouflaging’ in autistic people – reflection on Fombonne (2020)}}. {J Child Psychol Psychiatry}. 2020.
Fombonne’s (2020) editorial is a thought-provoking appraisal of the literature on ‘camouflaging’, whereby some autistic people mask or compensate for their autistic characteristics as an attempt to fit in and to cope with disabilities under neurotypical social norms. Fombonne (2020) highlights three issues of contention: (a) construct validity and measurement of camouflaging; (b) camouflaging as a reason for late autism diagnosis in adolescence/adulthood; and (c) camouflaging as a feature of the ‘female autism phenotype’. Here, we argue that (a) establishing construct validity and measurement of different aspects of camouflaging is warranted; (b) subjective experiences are important for the differential diagnosis of autism in adolescence/adulthood; and (c) camouflaging is not necessarily a feature of autism in female individuals – nevertheless, taking into account sex and gender influences in development is crucial to understand behavioural manifestations of autism. Future research and clinical directions should involve clarification of associated constructs and measurements, demography, mechanisms, impact (including harms and benefits) and tailored support.
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7. Loveall SJ, Hawthorne K, Gaines M. {{A meta-analysis of prosody in autism, Williams syndrome, and Down syndrome}}. {J Commun Disord}. 2020; 89: 106055.
Prosody, the rhythm and melody of speech, is an important component of effective communication, and it is an area of difficulty for many populations who struggle with communication. This paper is a meta-analysis of nine studies (and two sets of unpublished data) that assessed prosody using the Profiling Elements of Prosody in Speech-Communication (PEPS-C; Peppé & McCann, 2003) in autism spectrum disorder, Williams syndrome, and Down syndrome. Our original goal was to include studies involving any neurodevelopmental disorder that is commonly associated with intellectual disability, yet our systematic search, which included three databases (i.e., PsychInfo, ERIC, and PubMed), only identified studies involving these three groups. To be included in the meta-analysis, studies had to include a group (n ≥ 3 participants) with a neurodevelopmental disorder commonly associated with intellectual disability and a typically developing comparison group matched on chronological age, nonverbal abilities, or verbal abilities. Studies also needed to report original data using the PEPS-C and be available in English. Study quality was assessed using a checklist adapted from Downes et al. (2016). Results revealed that prosodic form was a weakness for each etiology, while unique patterns of strengths and weaknesses were evident for prosodic functions. Groups with autism (n = 5), all classified as high-functioning or with Asperger’s syndrome, exhibited weakness in emotional affect but some relative strengths with turn-end and focus tasks. Groups with Williams syndrome (n = 4) demonstrated weaknesses on phrase/sentence-level tasks and relative strengths on word-level tasks. Groups with Down syndrome (n = 2) had the greatest difficulty overall, though performance was better on receptive (vs. expressive) function tasks. By combining studies and related subtasks of the PEPS-C, we are able to more confidently generalize findings for each population and identify targets for intervention. However, given the limited number of studies identified, this paper also highlights the need for more research on prosody in intellectual disability.
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8. Lum JAG, Shandley K, Albein-Urios N, Kirkovski M, Papadopoulos N, Wilson RB, Enticott PG, Rinehart NJ. {{Meta-Analysis Reveals Gait Anomalies in Autism}}. {Autism Res}. 2020.
Gait abnormalities are frequently reported in autism. The empirical literature, however, is characterized by inconsistent findings concerning which aspects of gait are affected. We conducted a meta-analysis to summarize study findings that examined temporal and spatial (i.e., two-dimensional) gait parameters in pediatric and adult samples comprising individuals with autism and healthy controls. After searching electronic databases, a total of 18 studies were identified and included in this review. Results from the meta-analyses revealed autism is associated with a wider step width, slower walking speed, longer gait cycle, longer stance time and longer step time. Additionally, autism appears to be associated with greater intra-individual variability on measures of stride length, stride time and walking speed. Meta-regression analyses revealed cadence and gait cycle duration differences, between autism and control groups, become more pronounced with age. Overall, this review demonstrates that autism is associated with gait abnormalities. However, assessment of the methodological quality of the studies reveal, additional research is required to understand the extent that gait abnormalities are specifically linked to autism, or whether they may be secondary to other factors commonly found in this group, such as increased weight. LAY SUMMARY: It is often noted by clinicians that individuals with autism have an awkward or unusual walking style, which is also referred to as gait. In this report, we reviewed past studies that compared gait in individuals with and without autism. Our review indicates autism is associated with an abnormal gait. However, it is not yet clear whether gait abnormalities are caused by autism, or arise due to other factors such as heavier weight, which often co-occurs in this group.
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9. McKenna F, Miles L, Donaldson J, Castellanos FX, Lazar M. {{Diffusion kurtosis imaging of gray matter in young adults with autism spectrum disorder}}. {Sci Rep}. 2020; 10(1): 21465.
Prior ex vivo histological postmortem studies of autism spectrum disorder (ASD) have shown gray matter microstructural abnormalities, however, in vivo examination of gray matter microstructure in ASD has remained scarce due to the relative lack of non-invasive methods to assess it. The aim of this work was to evaluate the feasibility of employing diffusional kurtosis imaging (DKI) to describe gray matter abnormalities in ASD in vivo. DKI data were examined for 16 male participants with a diagnosis of ASD and IQ>80 and 17 age- and IQ-matched male typically developing (TD) young adults 18-25 years old. Mean (MK), axial (AK), radial (RK) kurtosis and mean diffusivity (MD) metrics were calculated for lobar and sub-lobar regions of interest. Significantly decreased MK, RK, and MD were found in ASD compared to TD participants in the frontal and temporal lobes and several sub-lobar regions previously associated with ASD pathology. In ASD participants, decreased kurtosis in gray matter ROIs correlated with increased repetitive and restricted behaviors and poor social interaction symptoms. Decreased kurtosis in ASD may reflect a pathology associated with a less restrictive microstructural environment such as decreased neuronal density and size, atypically sized cortical columns, or limited dendritic arborizations.
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10. Oliver LD, Moxon-Emre I, Lai MC, Grennan L, Voineskos AN, Ameis SH. {{Social Cognitive Performance in Schizophrenia Spectrum Disorders Compared With Autism Spectrum Disorder: A Systematic Review, Meta-analysis, and Meta-regression}}. {JAMA Psychiatry}. 2020.
IMPORTANCE: Schizophrenia spectrum disorders (SSDs) and autism spectrum disorder (ASD) both feature social cognitive deficits; however, these disorders historically have been examined separately using a range of tests and subdomain focus and at different time points in the life span. Moving beyond diagnostic categories and characterizing social cognitive deficits can enhance understanding of shared pathways across these disorders. OBJECTIVE: To investigate how deficits in social cognitive domains diverge or overlap between SSDs and ASD based on the extant literature. DATA SOURCES: Literature searches were conducted in MEDLINE, PsycInfo, Embase, and Web of Science from database inception until July 26, 2020. STUDY SELECTION: Original research articles were selected that reported performance-based measures of social cognition in both SSDs and ASD samples. Selected articles also had to be published in English and use International Statistical Classification of Diseases and Related Health Problems, Tenth Revision, DSM-IV, or more recent diagnostic criteria. DATA EXTRACTION AND SYNTHESIS: This systematic review and meta-analysis was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-analyses and Meta-analysis of Observational Studies in Epidemiology reporting guidelines, including data extraction and quality assessment using a modified version of the Newcastle-Ottawa Scale. Data were pooled using a random-effects model. MAIN OUTCOMES AND MEASURES: Effect sizes were calculated as Hedges g (SSDs vs ASD). The primary outcomes were performance on emotion processing tasks, theory of mind (ToM) tasks, and the Reading the Mind in the Eyes Test (RMET) in SSDs compared with ASD. Meta-regressions were performed for age difference, publication year, quality assessment scores, and antipsychotic medication use. RESULTS: Of the 4175 screened articles, 36 studies directly comparing social cognitive performance in individuals with SSDs vs ASD were included in the qualitative analysis (n = 1212 for SSDs groups and n = 1109 for ASD groups), and 33 studies were included in the quantitative analyses (n = 1113 for SSDs groups and n = 1015 for ASD groups). Most study participants were male (number of studies [k] = 36, 72% [878 of 1212] in SSDs groups and 82% [907 of 1109] in ASD groups), and age (k = 35) was older in SSDs groups (mean [SD], 28.4 [9.5] years) than in ASD groups (mean [SD], 23.3 [7.6] years). Included studies highlighted the prevalence of small, male-predominant samples and a paucity of cross-disorder clinical measures. The meta-analyses revealed no statistically significant differences between SSDs and ASD on emotion processing measures (k = 15; g = 0.12 [95% CI, -0.07 to 0.30]; P = .21; I2 = 51.0%; 1 outlier excluded), ToM measures (k = 17; g = -0.01 [95% CI, -0.21 to 0.19]; P = .92; I2 = 56.5%; 1 outlier excluded), or the RMET (k = 13; g = 0.25 [95% CI, -0.04 to 0.53]; P = .10; I2 = 75.3%). However, SSDs vs ASD performance differences between studies were statistically significantly heterogeneous, which was only minimally explained by potential moderators. CONCLUSIONS AND RELEVANCE: In this analysis, similar levels of social cognitive impairment were present, on average, in individuals with SSDs and ASD. Cross-disorder studies of social cognition, including larger samples, consensus batteries, and consistent reporting of measures, as well as data across multiple levels of analysis, are needed to help identify subgroups within and across disorders that may be more homogeneous in etiology and treatment response.
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11. Sener EF, Onal MG, Dal F, Nalbantoglu U, Ozkul Y, Canatan H, Oztop DB. {{Novel Alterations of CC2D1A as a Candidate Gene in a Turkish Sample of Patients with Autism Spectrum Disorder}}. {Int J Neurosci}. 2020: 1-9.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with large genetic background, but identification of pathogenic variants has proceeded slowly because hundreds of loci are involved in this complex disorder. CC2D1A gene firstly associated with the intellectual disability (ID) in a family with a large deletion. We aimed to contribute to the literature by sequencing this gene and by this way we report novel CC2D1A variations in patients with ASD. Methods: Forty families who have a child with a diagnosis of ASD were enrolled to the study. DNA samples were obtained from each family member. Bidirectional CC2D1A gene sequencing was performed with CEQ Cycle Sequencing Kit and the products were analyzed on the Beckman CEQ 8000. All of the genetic analysis was conducted in Erciyes University Genome and Stem Cell Center (GENKOK). Results: According to the sequencing results we defined new alterations in this gene with two SNPs in exon 15 and 19 (rs747172992 and rs1364074600) in our patients. We were found a pathogenic variant in one patient. This variant was located in the acceptor region. Six of the variants were missense mutations. Additionally, six different benign variants were detected in 30 patients however; they were not associated with ASD. Two patients carried multiple rare variants. Conclusion: In vitro and in vivo functional analysis with this gene will help to understand its contribution to ASD pathogenesis. Future studies may help to elucidate the underlying biological mechanisms of these variants leading to the autism phenotype.
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12. Shogren KA, Anderson MH, Burke KM, Antosh A, Ferrara VE, Pallack MA, Dean EE. {{Employment Trends in Rhode Island From 2011 to 2017 for Adults With Intellectual Disability and Developmental Disabilities}}. {Intellectual and developmental disabilities}. 2020; 58(6): 458-71.
This study reports on state-level data in Rhode Island on employment and non-work activities of adults with intellectual and developmental disabilities receiving services between 2011 and 2017. The goal was to examine the complex patterns of change over time in individual-level employment outcomes and the potential short-term impacts of a consent decree entered into by the state of Rhode Island to address integrated employment outcomes. Findings suggest that policy initiatives such as the consent decree can lead to reductions in reliance on facility-based work, but also highlight the importance of planning for the transition to competitive, integrated employment and not simply a shift toward non-work activities. Further, the data support the notion that the best predictor of integrated employment over time is previous experiences in integrated employment (not facility-based or other work or non-work activities), suggesting the role of ongoing supported employment and transition services that create and support the maintenance of integrated employment.
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13. Williams ZJ, He JL, Cascio CJ, Woynaroski TG. {{A Review of Decreased Sound Tolerance in Autism: Definitions, Phenomenology, and Potential Mechanisms}}. {Neurosci Biobehav Rev}. 2020.
Atypical behavioral responses to environmental sounds are common in autistic children and adults, with 50-70% of this population exhibiting decreased sound tolerance (DST) at some point in their lives. This symptom is a source of significant distress and impairment across the lifespan, contributing to anxiety, challenging behaviors, reduced community participation, and school/workplace difficulties. However, relatively little is known about its phenomenology or neurocognitive underpinnings. The present article synthesizes a large body of literature on the phenomenology and pathophysiology of DST-related conditions to generate a comprehensive theoretical account of DST in autism. Notably, we argue against conceptualizing DST as a unified construct, suggesting that it be separated into three phenomenologically distinct conditions: hyperacusis (the perception of everyday sounds as excessively loud or painful), misophonia (an acquired aversive reaction to specific sounds), and phonophobia (a specific phobia of sound), each responsible for a portion of observed DST behaviors. We further elaborate our framework by proposing preliminary neurocognitive models of hyperacusis, misophonia, and phonophobia that incorporate neurophysiologic findings from studies of autism.
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14. Yuk V, Dunkley BT, Anagnostou E, Taylor MJ. {{Alpha connectivity and inhibitory control in adults with autism spectrum disorder}}. {Mol Autism}. 2020; 11(1): 95.
BACKGROUND: Individuals with autism spectrum disorder (ASD) often report difficulties with inhibition in everyday life. During inhibition tasks, adults with ASD show reduced activation of and connectivity between brain areas implicated in inhibition, suggesting impairments in inhibitory control at the neural level. Our study further investigated these differences by using magnetoencephalography (MEG) to examine the frequency band(s) in which functional connectivity underlying response inhibition occurs, as brain functions are frequency specific, and whether connectivity in certain frequency bands differs between adults with and without ASD. METHODS: We analysed MEG data from 40 adults with ASD (27 males; 26.94 ± 6.08 years old) and 39 control adults (27 males; 27.29 ± 5.94 years old) who performed a Go/No-go task. The task involved two blocks with different proportions of No-go trials: Inhibition (25% No-go) and Vigilance (75% No-go). We compared whole-brain connectivity in the two groups during correct No-go trials in the Inhibition vs. Vigilance blocks between 0 and 400 ms. RESULTS: Despite comparable performance on the Go/No-go task, adults with ASD showed reduced connectivity compared to controls in the alpha band (8-14 Hz) in a network with a main hub in the right inferior frontal gyrus. Decreased connectivity in this network predicted more self-reported difficulties on a measure of inhibition in everyday life. LIMITATIONS: Measures of everyday inhibitory control were not available for all participants, so this relationship between reduced network connectivity and inhibitory control abilities may not be necessarily representative of all adults with ASD or the larger ASD population. Further research with independent samples of adults with ASD, including those with a wider range of cognitive abilities, would be valuable. CONCLUSIONS: Our findings demonstrate reduced functional brain connectivity during response inhibition in adults with ASD. As alpha-band synchrony has been linked to top-down control mechanisms, we propose that the lack of alpha synchrony observed in our ASD group may reflect difficulties in suppressing task-irrelevant information, interfering with inhibition in real-life situations.
