1. Begeer S. {{Theory of mind interventions can be effective in treating autism, although long-term success remains unproven}}. {Evid Based Ment Health}. 2014.
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2. Clements CC, Castro VM, Blumenthal SR, Rosenfield HR, Murphy SN, Fava M, Erb JL, Churchill SE, Kaimal AJ, Doyle AE, Robinson EB, Smoller JW, Kohane IS, Perlis RH. {{Prenatal antidepressant exposure is associated with risk for attention-deficit hyperactivity disorder but not autism spectrum disorder in a large health system}}. {Mol Psychiatry}. 2014.
Previous studies suggested that risk for Autism Spectrum Disorder (ASD) may be increased in children exposed to antidepressants during the prenatal period. The disease specificity of this risk has not been addressed and the possibility of confounding has not been excluded. Children with ASD or attention-deficit hyperactivity disorder (ADHD) delivered in a large New England health-care system were identified from electronic health records (EHR), and each diagnostic group was matched 1:3 with children without ASD or ADHD. All children were linked with maternal health data using birth certificates and EHRs to determine prenatal medication exposures. Multiple logistic regression was used to examine association between prenatal antidepressant exposures and ASD or ADHD risk. A total of 1377 children diagnosed with ASD and 2243 with ADHD were matched with healthy controls. In models adjusted for sociodemographic features, antidepressant exposure prior to and during pregnancy was associated with ASD risk, but risk associated with exposure during pregnancy was no longer significant after controlling for maternal major depression (odds ratio (OR) 1.10 (0.70-1.70)). Conversely, antidepressant exposure during but not prior to pregnancy was associated with ADHD risk, even after adjustment for maternal depression (OR 1.81 (1.22-2.70)). These results suggest that the risk of autism observed with prenatal antidepressant exposure is likely confounded by severity of maternal illness, but further indicate that such exposure may still be associated with ADHD risk. This risk, modest in absolute terms, may still be a result of residual confounding and must be balanced against the substantial consequences of untreated maternal depression.Molecular Psychiatry advance online publication, 26 August 2014; doi:10.1038/mp.2014.90.
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3. Diehl JJ, Friedberg C, Paul R, Snedeker J. {{The use of prosody during syntactic processing in children and adolescents with autism spectrum disorders}}. {Dev Psychopathol}. 2014: 1-18.
In this study, we employed an eye-gaze paradigm to explore whether children (ages 8-12) and adolescents (ages 12-18) with autism spectrum disorders (ASDs) are able to use prosodic cues to determine the syntactic structure of an utterance. Persons with ASD were compared to typically developing (TD) peers matched on age, IQ, gender, and receptive language abilities. The stimuli were syntactically ambiguous but had a prosodic break that indicated the appropriate interpretation (feel the frog … with the feather vs. feel … the frog with the feather). We found that all groups were equally sensitive to the initial prosodic cues that were presented. Children and teens with ASD used prosody to interpret the ambiguous phrase as rapidly and efficiently as their TD peers. However, when a different cue was presented in subsequent trials, the younger ASD group was more likely to respond in a manner consistent with the initial prosodic cue rather than the new one. Eye-tracking data indicated that both younger groups (ASD and TD) had trouble shifting their interpretation as the prosodic cue changed, but the younger TD group was able to overcome this interference and produce an action consistent with the prosodic cue.
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4. Frolli A, Piscopo S, Conson M. {{Developmental changes in cognitive and behavioural functioning of adolescents with fragile-X syndrome}}. {J Intellect Disabil Res}. 2014.
BACKGROUND: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural profile of individuals with fragile-X syndrome. To this scope, we assessed intellectual functioning, adaptive behaviour, autistic symptomatology, behavioural problems (e.g. hyperactivity/lack of attention) and strengths (prosocial behaviours). METHOD: Thirty-six participants underwent standardised outcome measures (i.e. the Wechsler Intelligence Scales-Revised, the Childhood Autism Rating Scale, the Vineland Adaptive Behavior Scales, and the Strengths and Difficulty Questionnaire) in three time points (Time 1: 9-11; Time 2: 11-13, and Time 3: 13-15 years). RESULTS: Verbal IQ improved across time, whereas Nonverbal IQ declined and Full Scale IQ was quite unchanged. Autism ratings decreased; communication and social aspects of adaptive behaviour also enhanced. Finally, elevated levels of hyperactivity/lack of attention at Time 1 significantly improved across the three time points, whereas emotional symptoms, behavioural difficulties, problems with peers and prosocial behaviours remained stable over time. CONCLUSION: These findings revealed specific developmental changes in cognitive and behavioural functioning of individuals with fragile-X syndrome, likely related to a progressive maturation of brain systems devoted to attentional control.
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5. Geier DA, Hooker BS, Kern JK, Sykes LK, Geier MR. {{An Evaluation of the Effect of Increasing Parental Age on the Phenotypic Severity of Autism Spectrum Disorder}}. {J Child Neurol}. 2014.
It was recently postulated that because increased genetic load and increased parental age are both purportedly associated with the risk to develop an autism spectrum disorder, there must be a linkage between increasing genetic load and increasing parental age in autism spectrum disorder pathogenesis. The present study examined the hypothesis that if increased genetic load from increasing paternal age is important to autism spectrum disorder pathogenesis, then there should be a significant relationship between increasing parental age and increasing autism spectrum disorder phenotypic severity. Outpatient clinical records were retrospectively examined to identify a consecutive cohort of subjects diagnosed with an autism spectrum disorder (n = 351). Increasing autism spectrum disorder phenotypic severity was found not to be associated with increasing maternal/paternal age. The present study failed to support the hypothesis that increasing parental age was associated with increasing autism spectrum disorder phenotypic severity, but future studies should examine the relationship between genetic mutations in subjects diagnosed with an autism spectrum disorder and increasing parental age.
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6. Kasirer A, Mashal N. {{Verbal creativity in autism: comprehension and generation of metaphoric language in high-functioning autism spectrum disorder and typical development}}. {Front Hum Neurosci}. 2014; 8: 615.
Studies on creativity in participants with autism generally show impoverished performance as well as deficient comprehension of metaphoric language. However, very little is known about the ability to generate metaphors in this population. The present study examines verbal creativity in adults with autism-spectrum disorder (ASD) through tasks that rely on novel metaphoric language. Seventeen adults with ASD (mean age = 21.06) and 17 typically developing peers (mean age = 22.71) participated in the study. A multiple-choice questionnaire consisting of conventional and novel metaphors was used to test comprehension, and a sentence completion questionnaire was used to test generation of creative language. Results show similar performance in comprehension of conventional and novel metaphors in both groups, whereas adults with ASD generated more creative metaphors relative to the control group. Scores on tests of vocabulary and naming contributed to the prediction of conventional metaphor comprehension, while scores on tests of mental flexibility contributed to the prediction of novel metaphor comprehension. In addition, scores on a test of non-verbal intelligence contributed to the prediction of metaphor generation. The study points to unique verbal creativity in ASD.
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7. Marsh LE, Pearson A, Ropar D, Hamilton AF. {{Predictive Gaze During Observation of Irrational Actions in Adults with Autism Spectrum Conditions}}. {J Autism Dev Disord}. 2014.
Understanding irrational actions may require the observer to make mental state inferences about why an action was performed. Individuals with autism spectrum conditions (ASC) have well documented difficulties with mentalizing; however, the degree to which rationality understanding is impaired in autism is not yet clear. The present study uses eye-tracking to measure online understanding of action rationality in individuals with ASC. Twenty adults with ASC and 20 typically developing controls, matched for age and IQ watched movies of rational and irrational actions while their eye movements were recorded. Measures of looking time, scan path and saccade latency were calculated. Results from looking time and scan path analyses demonstrate that participants with ASC have reduced visual attention to salient action features such as the action goal and the hand performing the action, regardless of action rationality. However, when participants with ASC do attend to these features, they are able to make anticipatory goal saccades as quickly as typically developing controls. Taken together these results indicate that individuals with autism have reduced attention to observed actions, but when attention is maintained, goal prediction is typical. We conclude that the basic mechanisms of action understanding are intact in individuals with ASC although there may be impairment in the top-down, social modulation of eye movements.
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8. Matlock ST, Aman MG. {{Psychometric characteristics of the adult scale of hostility and aggression: Reactive/proactive (A-SHARP) and relation to psychiatric features of adults with developmental disabilities}}. {Res Dev Disabil}. 2014; 35(11): 3199-207.
Recently, we described the development of the Adult Scale of Hostility and Aggression: Reactive/Proactive (A-SHARP) (Matlock & Aman, 2011). The A-SHARP was derived by factor analysis of ratings of 512 adults with intellectual and developmental disabilities (IDD), and its resulting five subscales were designated as (1) Verbal Aggression, (2) Physical Aggression, (3) Hostile Affect, (4) Covert Aggression, and (5) Bullying. The items on each subscale are rated first for severity (the Problem scale) and second for « origin » (i.e., to reflect extent to which behaviors are planned or reactive; « Provocation scale »). This study evaluated psychometric characteristics of the A-SHARP in the developmental sample of 512 adults. Mean item-whole subscale correlations ranged from .67 (Physical Aggression) to .78 (Verbal Aggression) on the Problem scale. Interrater reliability (n=39) ranged from .59 to .78 on the Problem subscales and from .54 to .78 on the Provocation subscales. For the entire sample, the correspondence between the Problem and Provocation subscales was low (-0.04 to 0.28), indicating independence between the scales. The A-SHARP Physical subscale was strongly correlated with Behavior Problems Inventory (BPI) Aggression frequency ratings (n=512, r=0.79), and strongly with BPI severity ratings (r=.86). We examined congruent validity between A-SHARP subscale scores on the one hand and four DSM-IV categories and Down syndrome on the other. A number of significant associations were observed between the A-SHARP subscales and diagnostic group, supporting the A-SHARP’s congruent validity. Likewise, we examined the correspondence between use of psychoactive medicines and A-SHARP scores and found a number of associations between medication use and higher subscale scores. Overall, these results support the reliability and validity of the A-SHARP, and, as intended, the problem and provocation subscales appear to assess different constructs. However, much more work is needed to determine fully how well each of the subscales performs psychometrically.
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9. McConachie H, Fletcher-Watson S. {{Building capacity for rigorous controlled trials in autism: the importance of measuring treatment adherence}}. {Child Care Health Dev}. 2014.
Research groups across Europe have been networking to share information and ideas about research on preschool children with autism. The paper describes preliminary work to develop capacity for future multi-site randomized controlled trials of early intervention, with a specific focus on the need to measure treatment adherence where parents deliver therapy. The paper includes a review of randomized and controlled studies of parent-mediated early intervention from two sources, a recent Cochrane Collaboration review and a mapping of European early intervention studies in autism published since 2002. The data extracted focused on methods for describing parent adherence, that is, how and to what extent parents carry out the strategies taught them by therapists. Less than half of the 32 studies reviewed included any measure of parent adherence. Only seven included a direct assessment method. The challenges of developing pan-European early intervention evaluation studies are discussed, including choice of intervention model and of important outcomes, the need for translation of measurement tools and achievement of joint training to reliability of assessors. Measurement of parent-child interaction style and of adherence to strategies taught need further study.
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10. Mori K, Mori T, Goji A, Ito H, Toda Y, Fujii E, Miyazaki M, Harada M, Kagami S. {{[Hemodynamic activities in children with autism while imitating emotional facial expressions: a near-infrared spectroscopy study]}}. {No To Hattatsu}. 2014; 46(4): 281-6.
OBJECTIVE: To examine the hemodynamic activities in the frontal lobe, children with autistic disorder and matched controls underwent near-infrared spectroscopy (NIRS) while imitating emotional facial expressions. METHODS: The subjects consisted of 10 boys with autistic disorder without mental retardation (9 – 14 years) and 10 normally developing boys (9 – 14 years). The concentrations of oxyhemoglobin (oxy-Hb) were measured with frontal probes using a 34-channel NIRS machine while the subjects imitated emotional facial expressions. RESULTS: The increments in the concentration of oxy-Hb in the pars opercularis of the inferior frontal gyrus in autistic subjects were significantly lower than those in the controls. However, the concentrations of oxy-Hb in this area were significantly elevated in autistic subjects after they were trained to imitate emotional facial expressions. The increments in the concentration of oxy-Hb in this area in autistic subjects were positively correlated with the scores on a test of labeling emotional facial expressions. CONCLUSIONS: The pars opercularis of the inferior frontal gyrus is an important component of the mirror neuron system. The present results suggest that mirror neurons could be activated by repeated imitation in children with autistic disorder.
11. Mottron L, Belleville S, Rouleau GA, Collignon O. {{Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: The Trigger-Threshold-Target model}}. {Neurosci Biobehav Rev}. 2014.
The phenotype of autism involves heterogeneous adaptive traits (strengths vs. disabilities), different domains of alterations (social vs. non-social), and various associated genetic conditions (syndromic vs. nonsyndromic autism). Three observations suggest that alterations in experience-dependent plasticity are an etiological factor in autism: (1) the main cognitive domains enhanced in autism are controlled by the most plastic cortical brain regions, the multimodal association cortices; (2) autism and sensory deprivation share several features of cortical and functional reorganization; and (3) genetic mutations and/or environmental insults involved in autism all appear to affect developmental synaptic plasticity, and mostly lead to its upregulation. We present the Trigger-Threshold-Target (TTT) model of autism to organize these findings. In this model, genetic mutations trigger brain reorganization in individuals with a low plasticity threshold, mostly within regions sensitive to cortical reallocations. These changes account for the cognitive enhancements and reduced social expertise associated with autism. Enhanced but normal plasticity may underlie non-syndromic autism, whereas syndromic autism may occur when a triggering mutation or event produces an altered plastic reaction, also resulting in intellectual disability and dysmorphism in addition to autism. Differences in the target of brain reorganization (perceptual vs. language regions) account for the main autistic subgroups. In light of this model, future research should investigate how individual and sex-related differences in synaptic/regional brain plasticity influence the occurrence of autism.
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12. Solomon M, Frank MJ, Ragland JD, Smith AC, Niendam TA, Lesh TA, Grayson DS, Beck JS, Matter JC, Carter CS. {{Feedback-Driven Trial-by-Trial Learning in Autism Spectrum Disorders}}. {Am J Psychiatry}. 2014.
Objective: Impairments in learning are central to autism spectrum disorders. The authors investigated the cognitive and neural basis of these deficits in young adults with autism spectrum disorders using a well-characterized probabilistic reinforcement learning paradigm. Method: The probabilistic selection task was implemented among matched participants with autism spectrum disorders (N=22) and with typical development (N=25), aged 18-40 years, using rapid event-related functional MRI. Participants were trained to choose the correct stimulus in high-probability (AB), medium-probability (CD), and low-probability (EF) pairs, presented with valid feedback 80%, 70%, and 60% of the time, respectively. Whole-brain voxel-wise and parametric modulator analyses examined early and late learning during the stimulus and feedback epochs of the task. Results: The groups exhibited comparable performance on medium- and low-probability pairs. Typically developing persons showed higher accuracy on the high-probability pair, better win-stay performance (selection of the previously rewarded stimulus on the next trial of that type), and more robust recruitment of the anterior and medial prefrontal cortex during the stimulus epoch, suggesting development of an intact reward-based working memory for recent stimulus values. Throughout the feedback epoch, individuals with autism spectrum disorders exhibited greater recruitment of the anterior cingulate and orbito-frontal cortices compared with individuals with typical development, indicating continuing trial-by-trial activity related to feedback processing. Conclusions: Individuals with autism spectrum disorders exhibit learning deficits reflecting impaired ability to develop an effective reward-based working memory to guide stimulus selection. Instead, they continue to rely on trial-by-trial feedback processing to support learning dependent upon engagement of the anterior cingulate and orbito-frontal cortices.
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13. Tang G, Gudsnuk K, Kuo SH, Cotrina ML, Rosoklija G, Sosunov A, Sonders MS, Kanter E, Castagna C, Yamamoto A, Yue Z, Arancio O, Peterson BS, Champagne F, Dwork AJ, Goldman J, Sulzer D. {{Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits}}. {Neuron}. 2014.
Developmental alterations of excitatory synapses are implicated in autism spectrum disorders (ASDs). Here, we report increased dendritic spine density with reduced developmental spine pruning in layer V pyramidal neurons in postmortem ASD temporal lobe. These spine deficits correlate with hyperactivated mTOR and impaired autophagy. In Tsc2+/- ASD mice where mTOR is constitutively overactive, we observed postnatal spine pruning defects, blockade of autophagy, and ASD-like social behaviors. The mTOR inhibitor rapamycin corrected ASD-like behaviors and spine pruning defects in Tsc2+/ mice, but not in Atg7CKO neuronal autophagy-deficient mice or Tsc2+/-:Atg7CKO double mutants. Neuronal autophagy furthermore enabled spine elimination with no effects on spine formation. Our findings suggest that mTOR-regulated autophagy is required for developmental spine pruning, and activation of neuronal autophagy corrects synaptic pathology and social behavior deficits in ASD models with hyperactivated mTOR.
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14. Woodbury-Smith M, Dein K. {{Autism Spectrum Disorder (ASD) and Unlawful Behaviour: Where Do We Go from Here?}}. {J Autism Dev Disord}. 2014.
There exists now a body of research that describes case studies of individuals with autism spectrum disorder (ASD) who have engaged, or are alleged to have engaged, in a range of illegal behaviours, and that attempts to estimate the prevalence of ASD at different stages of the criminal justice process. Taken together, this research does suggest that some individuals with ASD will come into contact with the criminal justice system, but many questions regarding this apparent association remain unanswered. The purpose of this review is to propose a direction for research to address some of these unanswered questions and potentially inform the development of treatments and service provision.
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15. Zhang L, Ou J, Xu X, Peng Y, Guo H, Pan Y, Chen J, Wang T, Peng H, Liu Q, Tian D, Pan Q, Zou X, Zhao J, Hu Z, Xia K. {{AMPD1 functional variants associated with autism in Han Chinese population}}. {Eur Arch Psychiatry Clin Neurosci}. 2014.
Autism is a childhood neurodevelopmental disorder with high heterogeneity. Following our genome-wide associated loci with autism, we performed sequencing analysis of the coding regions, UTR and flanking splice junctions of AMPD1 in 830 Chinese autism individuals as well as 514 unrelated normal controls. Fourteen novel variants in the coding sequence were identified, including 11 missense variants and 3 synonymous mutations. Among these missense variants, 10 variants were absent in 514 control subjects, and conservative and functional prediction was carried out. Mitochondria activity and lactate dehydrogenase assay were performed in 5 patients’ lymphoblast cell lines; p.P572S and p.S626C showed decreased mitochondrial complex I activity, and p.S626C increased lactate dehydrogenase release in medium. Conclusively, our data suggested that mutational variants in AMPD1 contribute to autism risk in Han Chinese population, uncovering the contribution of mutant protein to disease development that operates via mitochondria dysfunction and cell necrosis.
