1. Alsagob M, Colak D, Kaya N. {{Genetics of autism spectrum disorder: an update on copy number variations leading to autism in the next generation sequencing era}}. {Discov Med};2015 (May);19(106):367-379.
Autism spectrum disorder (ASD) is a large group of neurodevelopmental conditions that share common characteristics such as social and language impairment and repetitive and stereotypic behaviors. It is reported that ASD is on increase in recent years reaching ratios up to 1 in 68 children. The disease is seen four times more frequently in males than females. ASD is heritable with complex inheritance and genetic heterogeneity, and frequently coexists with other diseases such as intellectual disability, seizure disorders, and fragile-x. Recent advances in genomic technologies have led to a greater understanding of genetic mechanisms in ASD, discovery of novel genetic loci and risk factors, as well as submicroscopic chromosomal changes also known as copy number variations (CNVs). Here we review recent developments in the genetics field and hereditary and sporadic CNVs leading to ASD.
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2. Deisher TA, Doan NV. {{Sociological Environmental Causes are Insufficient to Explain Autism Changepoints of Incidence}}. {Issues Law Med};2015 (Spring);30(1):25-46.
The Environmental Protection Agency (EPA) recently published a study analyzing time trends in the cumulative incidence of autistic disorder (AD) in the U.S., Denmark, and worldwide. A birth year changepoint (CP) around 1988 was identified. It has been argued that the epidemic rise in autism over the past three decades is partly due to a combination of sociologic factors along with the potential contribution of thimerosal containing vaccines. Our work conducted an expanded analysis of AD changepoints in CA and U.S., and determined whether changepoints in time trends of AD rates temporally coincide with changepoints for the proposed causative sociologic and environmental factors. Birth year changepoints were identified for 1980.9 [95% CI, 1978.6-1983.1], 1988.4 [95% CI, 1987.8-1989.0] and 1995.6 [95% CI, 1994.6-1996.6] for CA and U.S. data, confirming and expanding the EPA results. AD birth year changepoints significantly precede the changepoints calculated for indicators of increased social awareness of AD. Furthermore, the 1981 and 1996 AD birth year changepoints don’t coincide with any predicted changepoints based on altered thimerosal content in vaccines nor on revised editions of the Diagnostic and Statistical Manual of Mental Disorders (DSM).
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3. Deisher TA, Doan NV, Koyama K, Bwabye S. {{Epidemiologic and Molecular Relationship Between Vaccine Manufacture and Autism Spectrum Disorder Prevalence}}. {Issues Law Med};2015 (Spring);30(1):47-70.
OBJECTIVES: To assess the public health consequences of fetal cell line manufactured vaccines that contain residual human fetal DNA fragments utilizing laboratory and ecological approaches including statistics, molecular biology and genomics. METHOD: MMR coverage and autism disorder or autism spectrum disorder prevalence data for Norway, Sweden and the UK were obtained from public and government websites as well as peer reviewed published articles. Biologically, the size and quantity of the contaminating fetal DNA in Meruvax II and Havrix as well as the propensity of various cell lines for cellular and nuclear uptake of primitive human DNA fragments were measured and quantified using gel electrophoresis, fluorescence microscopy and fluorometry. Lastly, genomic analysis identified the specific sites where fetal DNA fragment integration into a child’s genome is most likely to occur. RESULTS: The average MMR coverage for the three countries fell below 90% after Dr. Wakefield’s infamous 1998 publication but started to recover slowly after 2001 until reaching over 90% coverage again by 2004. During the same time period, the average autism spectrum disorder prevalence in the United Kingdom, Norway and Sweden dropped substantially after birth year 1998 and gradually increased again after birth year 2000. Average single stranded DNA and double stranded DNA in Meruvax II were 142.05 ng/vial and 35.00 ng/vial, respectively, and 276.00 ng/vial and 35.74 ng/vial in Havrix respectively. The size of the fetal DNA fragments in Meruvax II was approximately 215 base pairs. There was spontaneous cellular and nuclear DNA uptake in HFF1 and NCCIT cells. Genes that have been linked to autism (autism associated genes; AAGs) have a more concentrated susceptibility for insults to genomic stability in comparison to the group of all genes contained within the human genome. Of the X chromosome AAGs, 15 of 19 have double strand break motifs less than 100 kilobases away from the center of a meiotic recombination hotspot located within an exon. CONCLUSION: Vaccines manufactured in human fetal cell lines contain unacceptably high levels of fetal DNA fragment contaminants. The human genome naturally contains regions that are susceptible to double strand break formation and DNA insertional mutagenesis. The « Wakefield Scare » created a natural experiment that may demonstrate a causal relationship between fetal cell-line manufactured vaccines and ASD prevalence.
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4. James S, Stevenson SW, Silove N, Williams K. {{Chelation for autism spectrum disorder (ASD)}}. {Cochrane Database Syst Rev};2015;5:CD010766.
BACKGROUND: It has been suggested that the severity of autism spectrum disorder (ASD) symptoms is positively correlated with the level of circulating or stored toxic metals, and that excretion of these heavy metals, brought about by the use of pharmaceutical chelating agents, results in improved symptoms. OBJECTIVES: To assess the potential benefits and adverse effects of pharmaceutical chelating agents (referred to as chelation therapy throughout this review) for autism spectrum disorder (ASD) symptoms. SEARCH METHODS: We searched the following databases on 6 November 2014: CENTRAL, Ovid MEDLINE, Ovid MEDLINE In-Process, Embase,PsycINFO, Cumulative Index to Nursing and Allied Health Literature (CINAHL) and 15 other databases, including three trials registers. In addition we checked references lists and contacted experts. SELECTION CRITERIA: All randomised controlled trials of pharmaceutical chelating agents compared with placebo in individuals with ASD. DATA COLLECTION AND ANALYSIS: Two review authors independently selected studies, assessed them for risk of bias and extracted relevant data. We did not conduct a meta-analysis, as only one study was included. MAIN RESULTS: We excluded nine studies because they were non-randomised trials or were withdrawn before enrolment.We included one study, which was conducted in two phases. During the first phase of the study, 77 children with ASD were randomly assigned to receive seven days of glutathione lotion or placebo lotion, followed by three days of oral dimercaptosuccinic acid (DMSA). Forty-nine children who were found to be high excreters of heavy metals during phase one continued on to phase two to receive three days of oral DMSA or placebo followed by 11 days off, with the cycle repeated up to six times. The second phase thus assessed the effectiveness of multiple doses of oral DMSA compared with placebo in children who were high excreters of heavy metals and who received a three-day course of oral DMSA. Overall, no evidence suggests that multiple rounds of oral DMSA had an effect on ASD symptoms. AUTHORS’ CONCLUSIONS: This review included data from only one study, which had methodological limitations. As such, no clinical trial evidence was found to suggest that pharmaceutical chelation is an effective intervention for ASD. Given prior reports of serious adverse events, such as hypocalcaemia, renal impairment and reported death, the risks of using chelation for ASD currently outweigh proven benefits. Before further trials are conducted, evidence that supports a causal link between heavy metals and autism and methods that ensure the safety of participants are needed.
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5. Curran EA, Dalman C, Kearney PM, Kenny LC, Cryan JF, Dinan TG, Khashan AS. {{Association Between Obstetric Mode of Delivery and Autism Spectrum Disorder: A Population-Based Sibling Design Study}}. {JAMA Psychiatry};2015 (Jun 24)
Importance: Because the rates of cesarean section (CS) are increasing worldwide, it is becoming increasingly important to understand the long-term effects that mode of delivery may have on child development. Objective: To investigate the association between obstetric mode of delivery and autism spectrum disorder (ASD). Design, Setting, and Participants: Perinatal factors and ASD diagnoses based on the International Classification of Diseases, Ninth Revision (ICD-9),and the International Statistical Classification of Diseases, 10th Revision (ICD-10),were identified from the Swedish Medical Birth Register and the Swedish National Patient Register. We conducted stratified Cox proportional hazards regression analysis to examine the effect of mode of delivery on ASD. We then used conditional logistic regression to perform a sibling design study, which consisted of sibling pairs discordant on ASD status. Analyses were adjusted for year of birth (ie, partially adjusted) and then fully adjusted for various perinatal and sociodemographic factors. The population-based cohort study consisted of all singleton live births in Sweden from January 1, 1982, through December 31, 2010. Children were followed up until first diagnosis of ASD, death, migration, or December 31, 2011 (end of study period), whichever came first. The full cohort consisted of 2697315 children and 28290 cases of ASD. Sibling control analysis consisted of 13411 sibling pairs. Exposures: Obstetric mode of delivery defined as unassisted vaginal delivery (VD), assisted VD, elective CS, and emergency CS (defined by before or after onset of labor). Main Outcomes and Measures: The ASD status as defined using codes from the ICD-9 (code 299) and ICD-10 (code F84). Results: In adjusted Cox proportional hazards regression analysis, elective CS (hazard ratio, 1.21; 95% CI, 1.15-1.27) and emergency CS (hazard ratio, 1.15; 95% CI, 1.10-1.20) were associated with ASD when compared with unassisted VD. In the sibling control analysis, elective CS was not associated with ASD in partially (odds ratio [OR], 0.97; 95% CI, 0.85-1.11) or fully adjusted (OR, 0.89; 95% CI, 0.76-1.04) models. Emergency CS was significantly associated with ASD in partially adjusted analysis (OR, 1.20; 95% CI, 1.06-1.36), but this effect disappeared in the fully adjusted model (OR, 0.97; 95% CI, 0.85-1.11). Conclusions and Relevance: This study confirms previous findings that children born by CS are approximately 20% more likely to be diagnosed as having ASD. However, the association did not persist when using sibling controls, implying that this association is due to familial confounding by genetic and/or environmental factors.
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6. Parkington KB, Clements RJ, Landry O, Chouinard PA. {{Visual-motor association learning in undergraduate students as a function of the autism-spectrum quotient}}. {Exp Brain Res};2015 (Jun 24)
We examined how performance on an associative learning task changes in a sample of undergraduate students as a function of their autism-spectrum quotient (AQ) score. The participants, without any prior knowledge of the Japanese language, learned to associate hiragana characters with button responses. In the novel condition, 50 participants learned visual-motor associations without any prior exposure to the stimuli’s visual attributes. In the familiar condition, a different set of 50 participants completed a session in which they first became familiar with the stimuli’s visual appearance prior to completing the visual-motor association learning task. Participants with higher AQ scores had a clear advantage in the novel condition; the amount of training required reaching learning criterion correlated negatively with AQ. In contrast, participants with lower AQ scores had a clear advantage in the familiar condition; the amount of training required to reach learning criterion correlated positively with AQ. An examination of how each of the AQ subscales correlated with these learning patterns revealed that abilities in visual discrimination-which is known to depend on the visual ventral-stream system-may have afforded an advantage in the novel condition for the participants with the higher AQ scores, whereas abilities in attention switching-which are known to require mechanisms in the prefrontal cortex-may have afforded an advantage in the familiar condition for the participants with the lower AQ scores.
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7. Chita-Tegmark M, Arunachalam S, Nelson CA, Tager-Flusberg H. {{Eye-Tracking Measurements of Language Processing: Developmental Differences in Children at High Risk for ASD}}. {J Autism Dev Disord};2015 (Jun 25)
To explore how being at high risk for autism spectrum disorder (ASD), based on having an older sibling diagnosed with ASD, affects word comprehension and language processing speed, 18-, 24- and 36-month-old children, at high and low risk for ASD were tested in a cross- sectional study, on an eye gaze measure of receptive language that measured how accurately and rapidly the children looked at named target images. There were no significant differences between the high risk ASD group and the low risk control group of 18- and 24-month-olds. However, 36-month-olds in the high risk for ASD group performed significantly worse on the accuracy measure, but not on the speed measure. We propose that the language processing efficiency of the high risk group is not compromised, but other vocabulary acquisition factors might have lead to the high risk 36-month-olds to comprehend significantly fewer nouns on our measure.
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8. Shepherd CA, Waddell C. {{A Qualitative Study of Autism Policy in Canada: Seeking Consensus on Children’s Services}}. {J Autism Dev Disord};2015 (Jun 24)
Canadian autism policy has been unusually contentious, with parents resorting to litigation to secure services for their children in several provinces. To ascertain whether consensus was possible on improving services, we conducted an in-depth qualitative interview study with 39 parents, policymakers and researchers across the country. Parents vividly described the stresses of caring for their children, with considerable sympathy from researchers. Policymakers in turn struggled to balance the needs of all children. Yet participants agreed on the need for more comprehensive services across the spectrum and throughout the lifespan, and on the need to « do more for all » children. Our findings suggest that there is an emerging consensus on improving autism services in Canada-which should greatly benefit children.
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9. Laugeson EA, Gantman A, Kapp SK, Orenski K, Ellingsen R. {{A Randomized Controlled Trial to Improve Social Skills in Young Adults with Autism Spectrum Disorder: The UCLA PEERS Program}}. {J Autism Dev Disord};2015 (Jun 25)
Research suggests that impaired social skills are often the most significant challenge for those with autism spectrum disorder (ASD), yet few evidence-based social skills interventions exist for adults on the spectrum. This replication trial tested the effectiveness of PEERS, a caregiver-assisted social skills program for high-functioning young adults with ASD. Using a randomized controlled design, 22 young adults 18-24 years of age were randomly assigned to a treatment (n = 12) or delayed treatment control (n = 10) group. Results revealed that the treatment group improved significantly in overall social skills, frequency of social engagement, and social skills knowledge, and significantly reduced ASD symptoms related to social responsiveness following PEERS. Most treatment gains were maintained at a 16-week follow-up assessment with new improvements observed.
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10. Gamsiz ED, Sciarra LN, Maguire AM, Pescosolido MF, van Dyck LI, Morrow EM. {{Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms}}. {Neurotherapeutics};2015 (Jun 24)
Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.
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11. Fung LK, Hardan AY. {{Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date}}. {CNS Drugs};2015 (Jun 24)
Pharmacologic treatments targeting specific molecular mechanisms relevant for autism spectrum disorder (ASD) are beginning to emerge in early drug development. This article reviews the evidence for the disruption of glutamatergic neurotransmission in animal models of social deficits and summarizes key pre-clinical and clinical efforts in developing pharmacologic interventions based on modulation of glutamatergic systems in individuals with ASD. Understanding the pathobiology of the glutamatergic system has led to the development of new investigational treatments for individuals with ASD. Specific examples of medications that modulate the glutamatergic system in pre-clinical and clinical studies are described. Finally, we discuss the limitations of current strategies and future opportunities in developing medications targeting the glutamatergic system for treating individuals with ASD.
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12. Chen CP, Keown CL, Jahedi A, Nair A, Pflieger ME, Bailey BA, Muller RA. {{Diagnostic classification of intrinsic functional connectivity highlights somatosensory, default mode, and visual regions in autism}}. {Neuroimage Clin};2015;8:238-245.
Despite consensus on the neurological nature of autism spectrum disorders (ASD), brain biomarkers remain unknown and diagnosis continues to be based on behavioral criteria. Growing evidence suggests that brain abnormalities in ASD occur at the level of interconnected networks; however, previous attempts using functional connectivity data for diagnostic classification have reached only moderate accuracy. We selected 252 low-motion resting-state functional MRI (rs-fMRI) scans from the Autism Brain Imaging Data Exchange (ABIDE) including typically developing (TD) and ASD participants (n = 126 each), matched for age, non-verbal IQ, and head motion. A matrix of functional connectivities between 220 functionally defined regions of interest was used for diagnostic classification, implementing several machine learning tools. While support vector machines in combination with particle swarm optimization and recursive feature elimination performed modestly (with accuracies for validation datasets <70%), diagnostic classification reached a high accuracy of 91% with random forest (RF), a nonparametric ensemble learning method. Among the 100 most informative features (connectivities), for which this peak accuracy was achieved, participation of somatosensory, default mode, visual, and subcortical regions stood out. Whereas some of these findings were expected, given previous findings of default mode abnormalities and atypical visual functioning in ASD, the prominent role of somatosensory regions was remarkable. The finding of peak accuracy for 100 interregional functional connectivities further suggests that brain biomarkers of ASD may be regionally complex and distributed, rather than localized.
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13. Sussman D, Leung RC, Vogan VM, Lee W, Trelle S, Lin S, Cassel DB, Chakravarty MM, Lerch JP, Anagnostou E, Taylor MJ. {{The autism puzzle: Diffuse but not pervasive neuroanatomical abnormalities in children with ASD}}. {Neuroimage Clin};2015;8:170-179.
Autism Spectrum Disorder (ASD) is a clinically diagnosed, heterogeneous, neurodevelopmental condition, whose underlying causes have yet to be fully determined. A variety of studies have investigated either cortical, subcortical, or cerebellar anatomy in ASD, but none have conducted a complete examination of all neuroanatomical parameters on a single, large cohort. The current study provides a comprehensive examination of brain development of children with ASD between the ages of 4 and 18 years who are carefully matched for age and sex with typically developing controls at a ratio of one-to-two. Two hundred and ten magnetic resonance images were examined from 138 Control (116 males and 22 females) and 72 participants with ASD (61 males and 11 females). Cortical segmentation into 78 brain-regions and 81,924 vertices was conducted with CIVET which facilitated a region-of-interest- (ROI-) and vertex-based analysis, respectively. Volumes for the cerebellum, hippocampus, striatum, pallidum, and thalamus and many associated subregions were derived using the MAGeT Brain algorithm. The study reveals cortical, subcortical and cerebellar differences between ASD and Control group participants. Diagnosis, diagnosis-by-age, and diagnosis-by-sex interaction effects were found to significantly impact total brain volume but not total surface area or mean cortical thickness of the ASD participants. Localized (vertex-based) analysis of cortical thickness revealed no significant group differences, even when age, age-range, and sex were used as covariates. Nonetheless, the region-based cortical thickness analysis did reveal regional changes in the left orbitofrontal cortex and left posterior cingulate gyrus, both of which showed reduced age-related cortical thinning in ASD. Our finding of region-based differences without significant vertex-based results likely indicates non-focal effects spanning the entirety of these regions. The hippocampi, thalamus, and globus pallidus, were smaller in volume relative to total cerebrum in the ASD participants. Various sub-structures showed an interaction of diagnosis-by-age, diagnosis-by-sex, and diagnosis-by-age-range, in the case where age was divided into childhood (age < 12) and adolescence (12 < age < 18). This is the most comprehensive imaging-based neuro-anatomical pediatric and adolescent ASD study to date. These data highlight the neurodevelopmental differences between typically developing children and those with ASD, and support aspects of the hypothesis of abnormal neuro-developmental trajectory of the brain in ASD.
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14. Barbeau EB, Lewis JD, Doyon J, Benali H, Zeffiro TA, Mottron L. {{A greater involvement of posterior brain areas in interhemispheric transfer in autism: fMRI, DWI and behavioral evidences}}. {Neuroimage Clin};2015;8:267-280.
A small corpus callosum (CC) is one of the most replicated neurobiological findings in autism spectrum (AS). However, its effect on interhemispheric (IH) communication is unknown. We combined structural (CC area and DWI), functional (task-related fMRI activation and connectivity analyses) as well as behavioral (Poffenberger and Purdue tasks) measures to investigate IH integration in adult AS individuals of typical intelligence. Despite similar behavioral IH transfer time and performances in bimanual tasks, the CC sub-regions connecting frontal and parietal cortical areas were smaller in AS than in non-AS individuals, while those connecting visual regions were similar. The activation of visual areas was lower in AS than in non-AS individuals during the presentation of visual stimuli. Behavioral IH performances were related to the properties of CC subregions connecting motor areas in non-AS individuals, but to the properties of posterior CC regions in AS individuals. Furthermore, there was greater functional connectivity between visual areas in the AS than in the non-AS group. Levels of connectivity were also stronger in visual than in motor regions in the autistic subjects, while the opposite was true for the non-autistic group. Thus, visual IH transfer plays an important role in visuo-motor tasks in AS individuals. These findings extend the well established enhanced role of perception in autistic cognition to visuo-motor IH information transfer.
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15. Venkataraman A, Duncan JS, Yang DY, Pelphrey KA. {{An unbiased Bayesian approach to functional connectomics implicates social-communication networks in autism}}. {Neuroimage Clin};2015;8:356-366.
Resting-state functional magnetic resonance imaging (rsfMRI) studies reveal a complex pattern of hyper- and hypo-connectivity in children with autism spectrum disorder (ASD). Whereas rsfMRI findings tend to implicate the default mode network and subcortical areas in ASD, task fMRI and behavioral experiments point to social dysfunction as a unifying impairment of the disorder. Here, we leverage a novel Bayesian framework for whole-brain functional connectomics that aggregates population differences in connectivity to localize a subset of foci that are most affected by ASD. Our approach is entirely data-driven and does not impose spatial constraints on the region foci or dictate the trajectory of altered functional pathways. We apply our method to data from the openly shared Autism Brain Imaging Data Exchange (ABIDE) and pinpoint two intrinsic functional networks that distinguish ASD patients from typically developing controls. One network involves foci in the right temporal pole, left posterior cingulate cortex, left supramarginal gyrus, and left middle temporal gyrus. Automated decoding of this network by the Neurosynth meta-analytic database suggests high-level concepts of « language » and « comprehension » as the likely functional correlates. The second network consists of the left banks of the superior temporal sulcus, right posterior superior temporal sulcus extending into temporo-parietal junction, and right middle temporal gyrus. Associated functionality of these regions includes « social » and « person ». The abnormal pathways emanating from the above foci indicate that ASD patients simultaneously exhibit reduced long-range or inter-hemispheric connectivity and increased short-range or intra-hemispheric connectivity. Our findings reveal new insights into ASD and highlight possible neural mechanisms of the disorder.
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16. Kramer JM, Liljenquist K, Coster WJ. {{Validity, reliability, and usability of the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test for autism spectrum disorders}}. {Dev Med Child Neurol};2015 (Jun 22)
AIM: This study aimed to explore the test-retest reliability of the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test for autism spectrum disorders (PEDI-CAT [ASD]), the concurrent validity of this test with the Vineland Adaptive Behavior Scales (VABS-II), and parents’ perceptions of usability. METHOD: A convenience sample of participants (n=39) was recruited nationally through disability organizations. Parents of young people aged 10 to 18 years (mean age 14y 10mo, SD 2y 8mo; 34 males, five females) who reported a diagnosis of autism were eligible to participate. Parents completed the VABS-II questionnaire once and the PEDI-CAT (ASD) twice (n=29) no more than 3 weeks apart (mean 12d) using computer-simulated administration. Parents also answered questions about the usability of these instruments. We examined score reliability using intraclass correlation coefficients (ICCs) and we explored the relationship between instruments using Spearman’s rank correlation coefficients. Parent responses were grouped by common content; content categories were triangulated by an additional reviewer. RESULTS: Intraclass correlation coefficients indicate excellent reliability for all PEDI-CAT (ASD) domain scores (ICC>/=0.86). PEDI-CAT (ASD) and VABS-II domain scores correlated as expected or stronger than expected (0.57-0.81). Parents reported that the computer-based PEDI-CAT (ASD) was easy to use and included fewer irrelevant questions than the VABS-II instrument. INTERPRETATION: These findings suggest that the PEDI-CAT (ASD) is a reliable assessment that parents can easily use. The PEDI-CAT (ASD) operationalizes the International Classification of Function, Disability and Health for Children and Youth constructs of ‘activity’ and ‘participation’, and this preliminary research suggests that the instrument’s constructs are related to those of VABS-II.
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17. Engelhardt CR, Mazurek MO, Hilgard J, Rouder JN, Bartholow BD. {{Effects of Violent-Video-Game Exposure on Aggressive Behavior, Aggressive-Thought Accessibility, and Aggressive Affect Among Adults With and Without Autism Spectrum Disorder}}. {Psychol Sci};2015 (Jun 25)
Recent mass shootings have prompted the idea among some members of the public that exposure to violent video games can have a pronounced effect on individuals with autism spectrum disorder (ASD). Empirical evidence for or against this claim has been missing, however. To address this issue, we assigned adults with and without ASD to play a violent or nonviolent version of a customized first-person shooter video game. After they played the game, we assessed three aggression-related outcome variables (aggressive behavior, aggressive-thought accessibility, and aggressive affect). Results showed strong evidence that adults with ASD, compared with typically developing adults, are not differentially affected by acute exposure to violent video games. Moreover, model comparisons provided modest evidence against any effect of violent game content whatsoever. Findings from this experiment suggest that societal concerns that exposure to violent games may have a unique effect on adults with autism are not supported by evidence.
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18. Baldwin S, Costley D. {{The experiences and needs of female adults with high-functioning autism spectrum disorder}}. {Autism};2015 (Jun 25)
There is limited large-scale research into the lived experiences of female adults who have an autism spectrum disorder with no co-occurring intellectual disability. Drawing on the findings of an Australia-wide survey, this report presents self-report data from n = 82 women with high-functioning autism spectrum disorder in the areas of health, education, employment, social and community activities. Where relevant, comparisons are provided with the male subset of the same study population; however, in the majority of analyses, no discernible gender differences emerged. The findings highlight the diverse and complex challenges faced by women with high-functioning autism spectrum disorder, including high levels of mental health disorder, unmet support needs in education settings and the workplace, and social exclusion and isolation.
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19. Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-Ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d’Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L. {{Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features}}. {BMC Med Genet};2015;16:41.
BACKGROUND: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. METHODS: Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. RESULTS: We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the « friendly » demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. CONCLUSION: We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.
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20. Stancliffe RJ, Ticha R, Larson SA, Hewitt AS, Nord D. {{Responsiveness to Self-Report Interview Questions by Adults With Intellectual and Developmental Disability}}. {Intellect Dev Disabil};2015 (Jun);53(3):163-181.
An important line of research involves asking people with intellectual and developmental disability (IDD) to self-report their experiences and opinions. We analyzed the responsiveness of 11,391 adult users of IDD services to interview questions from Section 1 of the 2008-2009 National Core Indicators-Adult Consumer Survey (NCI-ACS). Proxy responses were not allowed for the selected questions. Overall, 62.1% of participants answered the questions and were rated by interviewers as understanding the questions and as responding consistently. Most participants responded in an all-or-none fashion, answering either all or most questions or few to none. Individuals with milder levels of IDD and with speech as their primary means of expression were more likely to answer the questions and provide a scoreable response. Interviewer ratings of interviewees’ answering questions, understanding of questions, and consistent responding were each related to responsiveness.
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21. Coleman MB, Cherry RA, Moore TC, Park Y, Cihak DF. {{Teaching Sight Words to Elementary Students With Intellectual Disability and Autism: A Comparison of Teacher-Directed Versus Computer-Assisted Simultaneous Prompting}}. {Intellect Dev Disabil};2015 (Jun);53(3):196-210.
The purpose of this study was to compare the effects of teacher-directed simultaneous prompting to computer-assisted simultaneous prompting for teaching sight words to 3 elementary school students with intellectual disability. Activities in the computer-assisted condition were designed with Intellitools Classroom Suite software whereas traditional materials (i.e., flashcards) were used in the teacher-directed condition. Treatment conditions were compared using an adapted alternating treatments design. Acquisition of sight words occurred in both conditions for all 3 participants; however, each participant either clearly responded better in the teacher-directed condition or reported a preference for the teacher-directed condition when performance was similar with computer-assisted instruction being more efficient. Practical implications and directions for future research are discussed.
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22. Hayakawa N, Okada T, Nomura K, Tsukada T, Nakamura M. {{Is high job control a risk factor for poor quality of life in workers with high autism spectrum tendencies? A cross-sectional survey at a factory in Japan}}. {J Occup Health};2015 (Jun 25)
OBJECTIVES: To examine the effect of autism spectrum (AS) tendencies and psychosocial job characteristics on health-related quality of life (HRQOL) among factory workers. METHODS: A questionnaire survey was administered to 376 Japanese factory employees from the same company (response rate: 83.6%) in 2010. Psychosocial job characteristics, including job demand, job control, and social support, were evaluated using the Job Content Questionnaire (JCQ). AS tendencies was assessed using the Autism-Spectrum Quotient (AQ), and HRQOL was assessed using the Medical Outcomes Study Short-Form General Health Survey (SF-8). Associations were investigated using multiple logistic regression analysis adjusted for confounders. RESULTS: In the multivariate analysis, AQ was positively (odds ratio [OR]: 3.94; 95% confidence interval [CI]: 1.70-9.73) and social support in the workplace was inversely (OR: 0.25; 95% CI: 0.10-0.57) associated with poor mental HRQOL. No significant interaction was observed between AQ and JCQ subitems. Only social support was inversely associated with poor physical HRQOL (OR and 95% CI for medium social support: 0.45 and 0.21-0.94), and a significant interaction between AQ and job control was observed (p=0.02), suggesting that high job control was associated with poor physical HRQOL among workers with high AQ, whereas low job control tended to be associated with poor physical HRQOL among others. CONCLUSIONS: Our results suggest that AS tendencies have a negative effect on workers’ HRQOL and social support is a primary factor in maintaining HRQOL. Moreover, a structured work environment can maintain physical HRQOL in workers with high AS tendencies since higher job control will be stressful.
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23. Souza AC, Mazzega LC, Armonia AC, Pinto FC, Bevilacqua M, Nascimbeni RC, Tamanaha AC, Perissinoto J. {{Comparative study of the imitation ability in Specific Language Impairment and Autism Spectrum Impairment}}. {Codas};2015 (Mar-Apr);27(2):142-147.
PURPOSE: To compare abilities of imitating generic and sequential motion gesture schemes in family routines among children with Autism Spectrum Disorder (ASD) and Specific Language Impairment (SLI) and to analyze the relation between imitation index and verbal production in the ASD group. METHODS: The sample was constituted by 2:1 pairing of 36 children, according to gender and age. All of them were diagnosed by a multidisciplinary team as belonging to the ASD group (n=24) or SLI group (n=12) and were under direct and indirect intervention in a school clinic. We have used the stage of imitation of the Assessment of Symbolic Maturity, which entails the imitation of nine generic and three sequential motion gesture schemes. RESULTS: There was a tendency to a better performance of the SLI group at imitating both generic and sequential gesture schemes. As we have related the ability of imitation to the verbal production in the ASD group, a direct relation between the production of phrases and the imitation of sequential schemes was detected. CONCLUSION: The ability to imitate gesture and sequential schemes could be compared, and a more prominent impairment was identified in children with autism. Among them, a direct significant relationship between the ability of imitating sequential gesture schemes in family routine and verbal production of words and sentences was verified.
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24. Kobayashi T, Hirano Y, Nemoto K, Sutoh C, Ishikawa K, Miyata H, Matsumoto J, Matsumoto K, Masuda Y, Nakazato M, Shimizu E, Nakagawa A. {{Correlation between Morphologic Changes and Autism Spectrum Tendency in Obsessive-Compulsive Disorder}}. {Magn Reson Med Sci};2015 (Jun 23)
OBJECTIVES: Obsessive-compulsive disorder (OCD) is one of the most debilitating psychiatric disorders, with some speculating that a reason for difficulty in its treatment might be its coexistence with autism spectrum. We investigated the tendency for autistic spectrum disorders (ASD) in patients with OCD from a neuroimaging point of view using voxel-based morphometry. METHODS: We acquired T1-weighted images from 20 patients with OCD and 30 healthy controls and investigated the difference in regional volume between the groups as well as the correlation between Autism-Spectrum Quotient (AQ) scores and regional cerebral volumes of patients with OCD. RESULTS: Volumes in the bilateral middle frontal gyri were significantly decreased in patients with OCD compared to controls. Correlational analysis showed significant positive correlations between AQ scores and regional gray matter (GM) volumes in the left dorsolateral prefrontal cortex (DLPFC) and left amygdala. Furthermore, GM volumes of these regions were positively correlated with each other. CONCLUSIONS: The positive correlation of ASD traits in patients with OCD with regional GM volumes in the left DLPFC and amygdala could reflect the heterogeneity of patient symptoms. Our results suggest that differences in GM volume might allow classification of patients with OCD for appropriate therapy based on their particular traits.
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25. Minhas A, Vajaratkar V, Divan G, Hamdani SU, Leadbitter K, Taylor C, Aldred C, Tariq A, Tariq M, Cardoza P, Green J, Patel V, Rahman A. {{Parents’ perspectives on care of children with autistic spectrum disorder in South Asia – Views from Pakistan and India}}. {Int Rev Psychiatry};2015 (Jun 24):1-10.
Autism spectrum disorder (ASD) affects about 1.4% of the population in South Asia but very few have access to any form of health care service. The objective of this study was to explore the beliefs and practices related to the care of children with ASD to inform strategies for intervention. In Pakistan, primary data were collected through in-depth interviews of parents (N = 15), while in India a narrative review of existing studies was conducted. The results show that the burden of care is almost entirely on the mother, leading to high levels of stress. Poor awareness of the condition in both family members and front-line health-providers leads to delay in recognition and appropriate management. There is considerable stigma and discrimination affecting children with autism and their families. Specialist services are rare, concentrated in urban areas, and inaccessible to the majority. Strategies for intervention should include building community and family support networks to provide respite to the main carer. In the absence of specialists, community members such as community health workers, traditional practitioners and even motivated family members could be trained in recognizing and providing evidence-based interventions. Such task-shifting strategies should be accompanied by campaigns to raise awareness so greater inclusivity can be achieved.
