1. Almeida RA, Dickinson JE, Maybery MT, Badcock JC, Badcock DR. {{Visual search targeting either local or global perceptual processes differs as a function of autistic-like traits in the typically developing population}}. {J Autism Dev Disord};2013 (Jun);43(6):1272-1286.
Relative to low scorers, high scorers on the Autism-Spectrum Quotient (AQ) show enhanced performance on the Embedded Figures Test and the Radial Frequency search task (RFST), which has been attributed to both enhanced local processing and differences in combining global percepts. We investigate the role of local and global processing further using the RFST in four experiments. High AQ adults maintained a consistent advantage in search speed across diverse target-distracter stimulus conditions. This advantage may reflect enhanced local processing of curvature in early stages of the form vision pathway and superior global detection of shape primitives. However, more probable is the presence of a superior search process that enables a consistent search advantage at both levels of processing.
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2. Bagasra O, Golkar Z, Garcia M, Rice LN, Pace DG. {{Role of perfumes in pathogenesis of Autism}}. {Med Hypotheses};2013 (Jun);80(6):795-803.
Autism spectrum disorders (ASDs) are developmental conditions characterized by deficits in social interaction, verbal and nonverbal communication, and obsessive/stereotyped patterns of behavior. Although there is no reliable neurophysiological marker associated with ASDs, dysfunction of the parieto-frontal mirror neuron system and underdeveloped olfactory bulb (OB) has been associated with the disorder. It has been reported that the number of children who have ASD has increased considerably since the early 1990s. In developed countries, it is now reported that 1-1.5% of children have ASD, and in the US it is estimated that one in 88 children suffer from ASD. Currently, there is no known cause for ASD. During the last three decades, the most commonly accepted paradigm about autism is that it is a genetically inherited disease. The recent trio analyses, in which both biological parents and the autistic child’s exomes are sequenced, do not support this paradigm. On the other hand, the environmental factors that may induce genetic mutations in vitro have not been clearly identified, and there is little irrefutable evidence that pesticides, water born chemicals, or food preservatives play critical roles in inducing the genetic mutations associated with known intellectual deficiencies that have been linked to autism spectrum disorder (ASD). Here, we hypothesize and provide scientific evidence that ASD is the result of exposure to perfumes and cosmetics. The highly mutagenic, neurotoxic, and neuromodulatory chemicals found in perfumes are often overlooked and ignored as a result of a giant loophole in the Federal Fair Packaging and Labeling Act of 1973, which explicitly exempts fragrance producers from having to disclose perfume ingredients on product labels. We hypothesize that perfumes and cosmetics may be important factors in the pathogenesis of ASD. Synthetic perfumes have gained global utility not only as perfumes but also as essential chemicals in detergents, cosmetics, soap, and a wide variety of commonly used items, even in food flavoring to enhance product taste. Here we provide evidence that a majority of perfumes are highly mutagenic at femtomolar concentrations, and cause significant neuromodulations in human neuroblastoma cells at extremely low levels of concentration, levels that are expected to reach a developing fetal brain if the pregnant mothers are exposed to these chemicals.
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3. Baker E, Richdale A, Short M, Gradisar M. {{An investigation of sleep patterns in adolescents with high-functioning autism spectrum disorder compared with typically developing adolescents}}. {Dev Neurorehabil};2013 (Jun);16(3):155-165.
Objective: To investigate the sleep patterns and disturbances in a pure sample of adolescents with high-functioning autism spectrum disorder (HFASD). Method: Adolescents completed a sleep questionnaire battery and a 7 d sleep diary. Actigraphic data were collected from a sub-sample of participants (55%) with HFASD and all typically developing (TD) adolescents. Results: Adolescents with HFASD were three times more likely to report a sleep problem than their TD peers (46.2% vs. 14.8%). Adolescents with HFASD had decreased sleep efficiency (diary) (p = 0.04, eta(2 )= 0.10), and more fatigue (p = 0.002, eta(2 )= 0.18) compared with TD adolescents. While TD adolescents generally experienced one symptom of insomnia, adolescents with HFASD were likely to experience two or three symptoms of insomnia (p = 0.02, V = 0.36). Conclusion: The findings suggest that adolescents with HFASD show a continuation of the maladaptive sleep patterns as seen in children with an autism spectrum disorder and these sleep disturbances are associated with increased daytime sleepiness.
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4. Bao X, Downs J, Wong K, Williams S, Leonard H. {{Using a large international sample to investigate epilepsy in Rett syndrome}}. {Dev Med Child Neurol};2013 (Jun);55(6):553-558.
AIM: The aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype. METHOD: Information on 685 females with RTT recruited to the international Rett syndrome database (InterRett) with a pathogenic MECP2 mutation was obtained from family and clinician questionnaires. Individuals with RTT were aged 1 year 4 months to 54 years 2 months (mean 11y 1mo; SD 9y 4mo). RESULTS: Among them, 61% had epilepsy, with half diagnosed by the age of 5 years. Those with a large deletion had the earliest median age at epilepsy onset and those with p.R133C the latest age at onset. The highest rate of active epilepsy (54%) was in those aged 12 to 17 years. Compared with those with a p.R133C mutation, active seizures were more likely to be reported in those with a large deletion (odds ratio 3.71; 95% confidence interval 1.13-12.17) or p.T158M (odds ratio 2.92; 95% confidence interval 1.04-8.20). Commonly used medicines included valproate (47%), carbamazepine (39%), lamotrigine (30%), levetiracetam (24%), and topiramate (19%). INTERPRETATION: Genotype influences the age at onset and severity of epilepsy in RTT. Large sample sizes as available through InterRett assist in understanding the complexity of epilepsy in RTT in relation to genotype.
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5. Barnevik Olsson M, Carlsson LH, Westerlund J, Gillberg C, Fernell E. {{Autism before diagnosis: crying, feeding and sleeping problems in the first two years of life}}. {Acta Paediatr};2013 (Jun);102(6):635-639.
AIM: To chart early registered regulatory problems (RP) in a representative group of young children with and without autism spectrum disorder (ASD). METHODS: The target group comprised 208 preschool children with ASD, whose records from the Child Health Centres (CHC) were reviewed regarding numbers of consultations for excessive crying, feeding and sleeping problems. The records from an age- and gender-matched comparison group were obtained from the same CHCs as those of the index children RESULTS: Significant differences between the ASD and comparison groups were found for each domain studied and when domains were collapsed. Two or more consultations had occurred in 44% of the children in the ASD group and in 16% of the comparison group (p < 0.001). No correlations were found with regard to gender, later severity of autism, cognitive level or degree of hyperactivity. CONCLUSION: Regulatory problems (RP) were much more common in children who later received a diagnosis of ASD. Children with many RP in infancy require attention from CHC and paediatric services and need to be followed with regard to development and family support.
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6. Battistella G, Niederhauser J, Fornari E, Hippolyte L, Gronchi Perrin A, Lesca G, Forzano F, Hagmann P, Vingerhoets FJ, Draganski B, Maeder P, Jacquemont S. {{Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome}}. {Neurobiol Aging};2013 (Jun);34(6):1700-1707.
Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset movement disorder affecting FMR1 premutation carriers, is associated with cerebral and cerebellar lesions. The aim of this study was to test whether computational anatomy can detect similar patterns in asymptomatic FMR1 premutation carriers (mean age 46.7 years) with qualitatively normal -appearing grey and white matter on brain MRI. We used a multimodal imaging protocol to characterize brain anatomy by automated assessment of gray matter volume and white matter properties. Structural changes in the hippocampus and in the cerebellar motor network with decreased gray matter volume in lobule VI and white matter alterations of the corresponding afferent projections through the middle cerebellar peduncles are demonstrated. Diffuse subcortical white matter changes in both hemispheres, without corresponding gray matter alterations, are only identified through age x group interactions. We interpret the hippocampal fimbria and cerebellar changes as early alterations with a possible neurodevelopmental origin. In contrast, progression of the diffuse cerebral hemispheric white matter changes suggests a neurodegenerative process, leading to late-onset lesions, which may mark the imminent onset of FXTAS.
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7. Bernier R, Aaronson B, McPartland J. {{The role of imitation in the observed heterogeneity in EEG mu rhythm in autism and typical development}}. {Brain Cogn};2013 (Jun);82(1):69-75.
Dysfunction in an execution/observation matching system, or mirror neuron system, has been proposed to contribute to the social deficits observed in Autism Spectrum Disorder (ASD). Atypical activity in this system, as reflected in attenuation of the EEG mu rhythm, has been demonstrated in several studies; however, normative patterns of activity have been evident in other ASD samples. The current study sought to investigate this poorly understood heterogeneity in social perceptual brain function in ASD. EEG mu rhythm was recorded in a well-characterized sample of 19 children with ASD (mean age=6.4; 1 female) and 19 age-matched typically developing peers (mean age=6.9; 2 females) during execution and observation of goal-directed hand actions. Children were assessed on variables theoretically related to mirror neuron system function (MNS), such as ASD symptoms and imitation ability. Results indicated that MNS activity was associated with facial imitation ability, but not hand imitation ability, in children with ASD and typically developing individuals. Groups were comparable in terms of average MNS activity during both action observation and execution, but, in both groups, a subset of children showed absent or significantly reduced MNS activity during observation of action in conjunction with greater difficulty in imitation. These results emphasize the relationship between EEG indices of MNS function and imitative skill and suggest that dysfunction of the MNS is related to imitation ability in both clinical and typical populations, rather than representing a core deficit or universal impairment in ASD.
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8. Bishop SL, Hus V, Duncan A, Huerta M, Gotham K, Pickles A, Kreiger A, Buja A, Lund S, Lord C. {{Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Jun);43(6):1287-1297.
Research suggests that restricted and repetitive behaviors (RRBs) can be subdivided into Repetitive Sensory Motor (RSM) and Insistence on Sameness (IS) behaviors. However, because the majority of previous studies have used the Autism Diagnostic Interview-Revised (ADI-R), it is not clear whether these subcategories reflect the actual organization of RRBs in ASD. Using data from the Simons Simplex Collection (n = 1,825), we examined the association between scores on the ADI-R and the Repetitive Behavior Scale-Revised. Analyses supported the construct validity of RSM and IS subcategories. As in previous studies, IS behaviors showed no relationship with IQ. These findings support the continued use of RRB subcategories, particularly IS behaviors, as a means of creating more behaviorally homogeneous subgroups of children with ASD.
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9. Black K, McCarus C, Collins ML, Jensen A. {{Ocular manifestations of autism in ophthalmology}}. {Strabismus};2013 (Jun);21(2):98-102.
Abstract Purpose: To highlight the ocular manifestations of autism spectrum disorders in a retrospective chart review of the Greater Baltimore Medical Center (GBMC) among children in the pediatric ophthalmology practice setting. Design: Retrospective chart review. Forty-four patients diagnosed with an autism spectrum disorder (ASD) between January 2007 and October 2011 were examined by an orthoptist, orthoptic student, and a pediatric ophthalmologist. Results: Fifty-two percent of patients with ASD at GBMC were found to have an ocular abnormality, with 41% having strabismus, 27% with significant refractive error, 7% with anisometropia, and 11% with amblyopia. Conclusion: The prevalence of strabismus, amblyopia, and anisometropia were found to be higher among patients with ASD seen at the GBMC pediatric ophthalmology practice than in the general population.
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10. Brandwein AB, Foxe JJ, Butler JS, Russo NN, Altschuler TS, Gomes H, Molholm S. {{The development of multisensory integration in high-functioning autism: high-density electrical mapping and psychophysical measures reveal impairments in the processing of audiovisual inputs}}. {Cereb Cortex};2013 (Jun);23(6):1329-1341.
Successful integration of auditory and visual inputs is crucial for both basic perceptual functions and for higher-order processes related to social cognition. Autism spectrum disorders (ASD) are characterized by impairments in social cognition and are associated with abnormalities in sensory and perceptual processes. Several groups have reported that individuals with ASD are impaired in their ability to integrate socially relevant audiovisual (AV) information, and it has been suggested that this contributes to the higher-order social and cognitive deficits observed in ASD. However, successful integration of auditory and visual inputs also influences detection and perception of nonsocial stimuli, and integration deficits may impair earlier stages of information processing, with cascading downstream effects. To assess the integrity of basic AV integration, we recorded high-density electrophysiology from a cohort of high-functioning children with ASD (7-16 years) while they performed a simple AV reaction time task. Children with ASD showed considerably less behavioral facilitation to multisensory inputs, deficits that were paralleled by less effective neural integration. Evidence for processing differences relative to typically developing children was seen as early as 100 ms poststimulation, and topographic analysis suggested that children with ASD relied on different cortical networks during this early multisensory processing stage.
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11. Brendel C, Belakhov V, Werner H, Wegener E, Gartner J, Nudelman I, Baasov T, Huppke P. {{Erratum to: Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model}}. {J Mol Med (Berl)};2013 (Jun);91(6):775.
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12. Chang CL, Lung FW, Yen CF, Yang P. {{Adaptive behaviors in high-functioning taiwanese children with autism spectrum disorders: an investigation of the mediating roles of symptom severity and cognitive ability}}. {J Autism Dev Disord};2013 (Jun);43(6):1347-1355.
We investigated the relationship among cognitive level, autistic severity and adaptive function in a Taiwanese sample of 94 high-functioning children with autism spectrum disorders (ASD) (mean full scale intelligent quotients FSIQ = 84.8). Parents and teachers both completed the Adaptive Behavior Assessment System-II and the Social Responsiveness Scale. Correlational and regression analyses were used to explore the relationships among the constructs of cognitive, symptomatic and adaptive domains. Results revealed that average General Adaptive Composites of these children (home: 74.0; school: 74.6) was below average FSIQ. Profile analysis revealed that Social domain was the weakness among the adaptive abilities assessed at school and home. Cognitive abilities had positive relationship with adaptive function, while autistic severity had a weak negative relationship with adaptive function. Also, the younger the age the child got diagnosed, the less severe the current symptoms of autism were. The implication for emphasizing adaptive skills intervention was discussed.
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13. Clarke A. {{How much further can large international databases take Rett syndrome research?}}. {Dev Med Child Neurol};2013 (Jun);55(6):494-495.
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14. Constantino JN, Frazier TW. {{Commentary: The observed association between autistic severity measured by the Social Responsiveness Scale (SRS) and general psychopathology – a response to Hus et al.()}}. {J Child Psychol Psychiatry};2013 (Jun);54(6):695-697.
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15. Cook D, Nuro E, Murai KK. {{Increasing our understanding of human cognition through the study of Fragile X Syndrome}}. {Dev Neurobiol};2013 (May 31)
Fragile-X Syndrome (FXS) is considered the most common form of inherited intellectual disability. It is caused by reductions in the expression level or function of a single protein, the Fragile-X Mental Retardation Protein (FMRP), a translational regulator which binds to approximately 4% of brain messenger RNAs. Accumulating evidence suggests that FXS is a complex disorder of cognition, involving interactions between genetic and environmental influences, leading to difficulties in acquiring key life skills including motor skills, language and proper social behaviors. Since many FXS patients also present with one or more features of autism spectrum disorders (ASDs), insights gained from studying the monogenic basis of FXS could pave the way to a greater understanding of underlying features of multigenic ASDs. Here we present an overview of the FXS and FMRP field with the goal of demonstrating how loss of a single protein involved in translational control affects multiple stages of brain development and leads to debilitating consequences on human cognition. We also focus on studies which have rescued or improved FXS symptoms in mice using genetic or therapeutic approaches to reduce protein expression. We end with a brief description of how deficits in translational control are implicated in FXS and certain cases of ASDs, with many recent studies demonstrating that ASDs are likely caused by increases or decreases in the levels of certain key synaptic proteins. The study of FXS and its underlying single genetic cause offers an invaluable opportunity to study how a single gene influences brain development and behavior. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol, 2013.
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16. Damiano CR, Nahmias A, Hogan-Brown AL, Stone WL. {{What do repetitive and stereotyped movements mean for infant siblings of children with autism spectrum disorders?}}. {J Autism Dev Disord};2013 (Jun);43(6):1326-1335.
Repetitive and stereotyped movements (RSMs) in infancy are associated with later diagnoses of autism spectrum disorder (ASD), yet this relationship has not been fully explored in high-risk populations. The current study investigated how RSMs involving object and body use are related to diagnostic outcomes in infant siblings of children with ASD (Sibs-ASD) and typically developing children (Sibs-TD). The rate and number of different types of RSMs were measured at an average of 15 months with follow-up diagnostic evaluations approximately 18 months later. While Sibs-ASD displayed higher rates of RSMs relative to Sibs-TD, rates did not differ according to diagnostic outcome in Sibs-ASD. However preliminary evidence suggests that qualitative differences in RSM type warrant further investigation as early diagnostic markers.
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17. Davis TN, Dacus S, Strickland E, Copeland D, Chan JM, Blenden K, Scalzo R, Osborn S, Wells K, Christian K. {{The effects of a weighted vest on aggressive and self-injurious behavior in a child with autism}}. {Dev Neurorehabil};2013 (Jun);16(3):210-215.
Objective: Analyse the effects of a weighted vest on the aggressive and self-injurious behavior of a young boy with autism. Methods: The effects of the weighted vest were examined during a functional analysis utilizing an ABAB design with an embedded multielement design, in which the participant wore a five pound weighted vest or no vest. Results: The results do not suggest the existence of a functional relationship between the use of a weighted vest and challenging behavior, as the weighted vest had no marked effect on levels of aggression and self-injurious behavior. Conclusions: Weighted vests are a commonly implemented form of sensory integration therapy, frequently used as a treatment for disruptive behaviors associated with autism spectrum disorder [Stephenson J, Carter M. The use of weighted vests with children with autism spectrum disorders and other disabilities. Journal of Autism and Developmental Disabilities 2009;39:105-114]. However, the current findings support previous literature which states that the use of weighted vests does not appear to decrease challenging behavior.
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18. Demurie E, Roeyers H, Baeyens D, Sonuga-Barke E. {{Domain-general and domain-specific aspects of temporal discounting in children with ADHD and autism spectrum disorders (ASD): A proof of concept study}}. {Res Dev Disabil};2013 (Jun);34(6):1870-1880.
It has been shown that delayed consumable rewards are discounted to a higher degree than money, which has been referred to as the « domain effect ». Until now the effects of reward type on temporal discounting (TD) have mainly been studied in adults. Although there is evidence that children with attention-deficit/hyperactivity disorder (ADHD) tend to show steeper TD of money than typically developing peers or children with autism spectrum disorders (ASD), it remains untested whether the domain effect is also seen in children with ADHD and ASD. To explore this we compared TD of children (8-16 year) with ADHD, ASD and typically developing controls with five different reward types. Seventy-two participants with ADHD, 69 with ASD and 130 controls performed two hypothetical TD-tasks: a monetary TD-task and a TD-task with one of four alternative rewards (material rewards, rewarding activities, food, social rewards). TD was seen for all reward types, but the rate of discounting was steeper for food, praise and rewarding activities compared to money, and for food and praise compared to material rewards. For the ADHD and control groups, but not the ASD group, money and material rewards were equally highly discounted. High correlations between TD of money and of activities, food and material rewards were found. In conclusion, a domain effect was observed in typically developing children, as well as in children with ADHD or ASD, although the pattern was somewhat different for ASD children. Despite this domain effect, there is also evidence for a domain-general aspect in TD.
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19. Dovgopoly A, Mercado E, 3rd. {{A connectionist model of category learning by individuals with high-functioning autism spectrum disorder}}. {Cogn Affect Behav Neurosci};2013 (Jun);13(2):371-389.
Individuals with autism spectrum disorder (ASD) show atypical patterns of learning and generalization. We explored the possible impacts of autism-related neural abnormalities on perceptual category learning using a neural network model of visual cortical processing. When applied to experiments in which children or adults were trained to classify complex two-dimensional images, the model can account for atypical patterns of perceptual generalization. This is only possible, however, when individual differences in learning are taken into account. In particular, analyses performed with a self-organizing map suggested that individuals with high-functioning ASD show two distinct generalization patterns: one that is comparable to typical patterns, and a second in which there is almost no generalization. The model leads to novel predictions about how individuals will generalize when trained with simplified input sets and can explain why some researchers have failed to detect learning or generalization deficits in prior studies of category learning by individuals with autism. On the basis of these simulations, we propose that deficits in basic neural plasticity mechanisms may be sufficient to account for the atypical patterns of perceptual category learning and generalization associated with autism, but they do not account for why only a subset of individuals with autism would show such deficits. If variations in performance across subgroups reflect heterogeneous neural abnormalities, then future behavioral and neuroimaging studies of individuals with ASD will need to account for such disparities.
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20. Doyle-Thomas KA, Kushki A, Duerden EG, Taylor MJ, Lerch JP, Soorya LV, Wang AT, Fan J, Anagnostou E. {{The effect of diagnosis, age, and symptom severity on cortical surface area in the cingulate cortex and insula in autism spectrum disorders}}. {J Child Neurol};2013 (Jun);28(6):729-736.
Functional activity in the anterior cingulate cortex and insula has been reported to be abnormal during social tasks in autism spectrum disorders. However, few studies have examined surface morphometry in these regions and how this may be related to autism spectrum disorder symptomatology. In this study, 27 individuals with autism spectrum disorders and 25 controls between the ages of 7 to 39 years underwent structural magnetic resonance imaging. Our primary analysis examined differences in surface area in the cingulate and insula, between individuals with and without autism spectrum disorders, as well as age-related changes and associations with social impairments. Surface area in the right cingulate was significantly different between groups and decreased more rapidly with age in autism spectrum disorder participants. In addition, greater surface area in the insula and isthmus was associated with poorer social behaviors. Results suggest atypical surface morphometry in brain regions involved in social function, which appeared to be related to poorer social ability scores.
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21. Emond P, Mavel S, Aidoud N, Nadal-Desbarats L, Montigny F, Bonnet-Brilhault F, Barthelemy C, Merten M, Sarda P, Laumonnier F, Vourc’h P, Blasco H, Andres CR. {{GC-MS-based urine metabolic profiling of autism spectrum disorders}}. {Anal Bioanal Chem};2013 (Jun);405(15):5291-5300.
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders resulting from multiple factors. Diagnosis is based on behavioural and developmental signs detected before 3 years of age, and there is no reliable biological marker. The purpose of this study was to evaluate the value of gas chromatography combined with mass spectroscopy (GC-MS) associated with multivariate statistical modeling to capture the global biochemical signature of autistic individuals. GC-MS urinary metabolic profiles of 26 autistic and 24 healthy children were obtained by liq/liq extraction, and were or were not subjected to an oximation step, and then were subjected to a persilylation step. These metabolic profiles were then processed by multivariate analysis, in particular orthogonal partial least-squares discriminant analysis (OPLS-DA, R (2)Y(cum) = 0.97, Q (2)(cum) = 0.88). Discriminating metabolites were identified. The relative concentrations of the succinate and glycolate were higher for autistic than healthy children, whereas those of hippurate, 3-hydroxyphenylacetate, vanillylhydracrylate, 3-hydroxyhippurate, 4-hydroxyphenyl-2-hydroxyacetate, 1H-indole-3-acetate, phosphate, palmitate, stearate, and 3-methyladipate were lower. Eight other metabolites, which were not identified but characterized by a retention time plus a quantifier and its qualifier ion masses, were found to differ between the two groups. Comparison of statistical models leads to the conclusion that the combination of data obtained from both derivatization techniques leads to the model best discriminating between autistic and healthy groups of children.
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22. Eugene Arnold L. {{Commentary: Filling out the evidence base for treatment of attention-deficit hyperactivity disorder symptoms in children with intellectual and developmental disability: conclusions for clinicians – a response to Simonoff et al. (2013)}}. {J Child Psychol Psychiatry};2013 (Jun);54(6):701-703.
This randomized clinical trial of methylphenidate in children with intellectual disability (ID) by Simonoff et al. (2013) advances the field in several ways useful to clinicians. The three-figure widely representative sample more definitively confirms findings previously reported from smaller studies and studies with a differently selected sample. The medium placebo-controlled effect size found is in line with previous more tentative suggestions for ID, such as those summarized by Aman et al. This sample, selected for ID but coincidentally including some children with autism (a third of the sample), nicely complements the RUPP Autism Network (2005) study of 72 children with autism, most of whom also had ID (mean IQ 62.6, range 16-135). Similar effect was found in both studies, suggesting that one might expect a medium effect widely in the intellectual & developmental disability (IDD) population, with a 40-50% response rate.
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23. Ewing L, Pellicano E, Rhodes G. {{Reevaluating the selectivity of face-processing difficulties in children and adolescents with autism}}. {J Exp Child Psychol};2013 (Jun);115(2):342-355.
There are few direct examinations of whether face-processing difficulties in autism are disproportionate to difficulties with other complex non-face stimuli. Here we examined discrimination ability and memory for faces, cars, and inverted faces in children and adolescents with and without autism. Results showed that, relative to typical children, the difficulties of children and adolescents with autism were not limited to, or disproportionately severe for, faces. Rather, these participants demonstrated significant difficulties in remembering and discriminating between faces and cars. This lack of face selectivity is inconsistent with prominent theories that attribute face-processing difficulties in autism to fundamental problems with social motivation or social attention. Instead, our results are consistent with a more pervasive perceptual atypicality that may affect autistic processing of non-face stimuli as well as face stimuli.
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24. Firth I, Dryer R. {{The predictors of distress in parents of children with autism spectrum disorder}}. {J Intellect Dev Disabil};2013 (Jun);38(2):163-171.
Abstract Background It is well recognised that parents of children with autism spectrum disorder (ASD) often experience clinically significant levels of stress and depression. This study examined which ASD characteristic best predicted parental distress. Method Parents of 109 children aged between 4 and 12 (M age = 7.89, SD = 2.43) completed self-report measures of anxiety, depression, stress, and parenting-specific stress. They also completed rating scales regarding their child’s ASD characteristics. Results This study found that the child’s behavioural and emotional impairments predicted the parents’ overall levels of distress (i.e., stress/tension, anxiety, and depression), but not the stress associated with parenting. Instead, the child’s social impairment severity was found to predict parenting-specific stress. Conclusion This study highlights the pervasive influence of ASD symptomatology on the mental wellbeing of the parents and the importance of assisting parents to cope with the behavioural and social impairments of their child.
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25. Flashner BM, Russo ME, Boileau JE, Leong DW, Gallicano GI. {{Epigenetic factors and autism spectrum disorders}}. {Neuromolecular Med};2013 (Jun);15(2):339-350.
Autism is a complex neurodevelopmental disorder that has significant phenotypic overlap with several diseases, many of which fall within the broader category of autism spectrum disorders (ASDs). The etiology of the disorder is unclear and seems to involve a complex interplay of polygenic as well as environmental factors. We discuss evidence that suggests that epigenetic dysregulation is highly implicated as a contributing cause of ASDs and autism. Specifically, we examine neurodevelopmental disorders that share significant phenotypic overlap with ASDs and feature the dysregulation of epigenetically modified genes including UBE3A, GABA receptor genes, and RELN. We then look at the dysregulated expression of implicated epigenetic modifiers, namely MeCP2, that yield complex and varied downstream pleiotropic effects. Finally, we examine epigenetically mediated parent-of-origin effects through which paternal gene expression dominates that of maternal contributing to contrasting phenotypes implicated in ASDs. Such preliminary evidence suggests that elucidating the complex role of epigenetic regulations involved in ASDs could prove vital in furthering our understanding of the complex etiology of autism and ASDs.
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26. Gallego J. {{Genetic diseases: congenital central hypoventilation, rett, and prader-willi syndromes}}. {Compr Physiol};2012 (Jul 1);2(3):2255-2279.
The present review summarizes current knowledge on three rare genetic disorders of respiratory control, congenital central hypoventilation syndrome (CCHS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS). CCHS is characterized by lack of ventilatory chemosensitivity caused by PHOX2B gene abnormalities consisting mainly of alanine expansions. RTT is associated with episodes of tachypneic and irregular breathing intermixed with breathholds and apneas and is caused by mutations in the X-linked MECP2 gene encoding methyl-CpG-binding protein. PWS manifests as sleep-disordered breathing with apneas and episodes of hypoventilation and is caused by the loss of a group of paternally inherited genes on chromosome 15. CCHS is the most specific disorder of respiratory control, whereas the breathing disorders in RTT and PWS are components of a more general developmental disorder. The main clinical features of these three disorders are reviewed with special emphasis on the associated brain abnormalities. In all three syndromes, disease-causing genetic defects have been identified, allowing the development of genetically engineered mouse models. New directions for future therapies based on these models or, in some cases, on clinical experience are delineated. Studies of CCHS, RTT, and PWS extend our knowledge of the molecular and cellular aspects of respiratory rhythm generation and suggest possible pharmacological approaches to respiratory control disorders. This knowledge is relevant for the clinical management of many respiratory disorders that are far more prevalent than the rare diseases discussed here. (c) 2012 American Physiological Society. Compr Physiol 2:2255-2279, 2012.
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27. Genereux DP, Laird CD. {{At what rate do new premutation alleles arise at the fragile X locus?}}. {Hum Genet};2013 (Jun);132(6):715-717.
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28. Goldman S. {{Opinion: Sex, Gender and the Diagnosis of Autism – A Biosocial View of the Male Preponderance}}. {Res Autism Spectr Disord};2013 (Jun);7(6):675-679.
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29. Hanson E, Cerban BM, Slater CM, Caccamo LM, Bacic J, Chan E. {{Brief report: prevalence of attention deficit/hyperactivity disorder among individuals with an autism spectrum disorder}}. {J Autism Dev Disord};2013 (Jun);43(6):1459-1464.
Currently, both the DSM-IV-TR and ICD-10 preclude the diagnosis of Attention Deficit/Hyperactivity Disorder (ADHD) in cases that present with an Autism Spectrum Disorder (ASD). This criterion will be removed in the upcoming DSM-V, but the relationship between ASD and ADHD, and in particular the prevalence of ADHD among the ASD population, remains controversial. Previous studies have reported clinically significant ADHD symptoms in one-third to three-quarters of ASD-affected individuals (probands). In our sample of 1,838 simplex children and adolescents with ASD, we found that less than 16 % met clinically significant levels of ADHD symptoms, per parent report. When both parent and teacher reports were considered, the comorbidity rate was even lower, at 2 %.
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30. Howlin P, Moss P, Savage S, Rutter M. {{Social Outcomes in Mid- to Later Adulthood Among Individuals Diagnosed With Autism and Average Nonverbal IQ as Children}}. {J Am Acad Child Adolesc Psychiatry};2013 (Jun);52(6):572-581 e571.
OBJECTIVE: To describe current social functioning in a clinical sample of 60 adults with autism (mean age = 44 years) who were all of average nonverbal IQ (70+) when first diagnosed (mean age = 6.75 years). METHOD: Outcome measures included standardized diagnostic and cognitive assessments and questionnaires on social functioning. Child and adult variables related to current outcomes were explored. RESULTS: All individuals continued to meet criteria for autism spectrum disorder (ASD) on the Autism Diagnostic Interview-Revised (ADI-R), but severity of autism symptoms declined over time. Nevertheless, only 10 individuals (17%) were rated as having a « good » or « very good » outcome; the majority (60%) were assessed as having « poor » or « very poor » outcomes. The strongest predictor of adult outcome was the Reciprocal Social Interaction domain score on the ADI at diagnostic confirmation. Change over time was further examined in a subgroup (n = 44) previously assessed 20 years ago earlier (mean age = 26 years). Although severity of autism had continued to decrease during the adult period, social outcomes were poorer than in younger adulthood. CONCLUSIONS: In this cohort of adults first diagnosed with autism, on average, 37 years previously, social inclusion remains very limited, despite general improvements in autism symptomatology with age. Whether these findings will be replicated in future generations of children with autism, who now have the benefits of earlier diagnosis and wider access to specialist provision, needs to be the focus of further longitudinal research.
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31. Ikeda J, Davitt BV, Ultmann M, Maxim R, Cruz OA. {{Brief report: incidence of ophthalmologic disorders in children with autism}}. {J Autism Dev Disord};2013 (Jun);43(6):1447-1451.
Purpose To determine the incidence of ophthalmologic disorders in children with autism and related disorders. Design Retrospective chart review. Four hundred and seven children diagnosed with autism or a related disorder between 1998 and 2006. one hundred and fifty-four of these children completed a comprehensive ophthalmology exam by a pediatric ophthalmologist. Results Ophthalmologic pathology was found in 40% of patients with autism or a related disorder with 29% having significant refractive errors, 21% demonstrating strabismus, and 10% having amblyopia. Conclusions Children with autism or a related disorder will frequently have an ophthalmologic abnormality. Since cooperation with vision screening is understandably limited in these children, a comprehensive eye examination by a pediatric ophthalmologist is recommended for all such children.
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32. Jolley A, Corbett M, McGregor L, Waters W, Brown S, Nicholl J, Yu S. {{De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review}}. {Am J Med Genet A};2013 (Jun);161(6):1508-1512.
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33. Joshi G, Wozniak J, Petty C, Martelon MK, Fried R, Bolfek A, Kotte A, Stevens J, Furtak SL, Bourgeois M, Caruso J, Caron A, Biederman J. {{Psychiatric comorbidity and functioning in a clinically referred population of adults with autism spectrum disorders: a comparative study}}. {J Autism Dev Disord};2013 (Jun);43(6):1314-1325.
To systematically examine the patterns of psychiatric comorbidity and functioning in clinically referred adults with autism spectrum disorders (ASD). Psychiatrically referred adults with and without ASD were compared on measures assessing for psychiatric comorbidity and psychosocial functioning. Sixty-three adults with ASD participated in the study (mean age: 29 +/- 11 years). Adults with ASD in their lifetime suffered from a higher burden of psychiatric disorders (6 +/- 3.4 vs. 3.5 +/- 2.7; p < 0.001) including major depressive disorder and multiple anxiety disorders, and were functionally more impaired with a significant proportion having received both counseling and pharmacotherapy. Adults with ASD have high levels of psychiatric comorbidity and dysfunction comparable to a clinically referred population of adults without ASD.
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34. Kako H, Martin DP, Cartabuke R, Beebe A, Klamar J, Tobias JD. {{Perioperative management of a patient with Rett syndrome}}. {Int J Clin Exp Med};2013;6(5):393-403.
Rett syndrome is a neurodevelopmental disorder that results from mutations in the genes encoding methyl-cytosine-guanosine binding protein 2 located on the X chromosome. Clinical features of central nervous system involvement include regression of developmental milestones in the late infant and early toddler stages, mental retardation, seizures and other electroencephalographic abnormalities. Given the invariable association of this degenerative disorder with orthopedic deformities including scoliosis, patients with Rett syndrome may present for anesthetic care during various surgical procedures. The complexity of the end-organ involvement, specifically the progressive nature of respiratory and cardiac involvement, makes the anesthetic care of such patients challenging. Specific perioperative concerns include potential difficulties with airway management, an underlying seizure disorder, an increased sensitivity to anesthetic agents, prolonged QT syndrome, and diabetes mellitus. We present an 11-year-old girl with Rett syndrome who required anesthetic care for posterior spinal fusion. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement discussed, and options for anesthetic care presented.
35. Kaufmann L, Zotter S, Pixner S, Starke M, Haberlandt E, Steinmayr-Gensluckner M, Egger K, Schocke M, Weiss EM, Marksteiner J. {{Brief Report: CANTAB Performance and Brain Structure in Pediatric Patients with Asperger Syndrome}}. {J Autism Dev Disord};2013 (Jun);43(6):1483-1490.
By merging neuropsychological (CANTAB/Cambridge Neuropsychological Test Automated Battery) and structural brain imaging data (voxel-based-morphometry) the present study sought to identify the neurocognitive correlates of executive functions in individuals with Asperger syndrome (AS) compared to healthy controls. Results disclosed subtle group differences regarding response speed on only one CANTAB subtest that is thought to tap fronto-executive network functions (SWM/spatial working memory). Across all participants, SWM performance was significantly associated with two brain regions (precentral gyrus white matter, precuneus grey matter), thus suggesting a close link between fronto-executive functions (SWM) and circumscribed fronto-parietal brain structures. Finally, symptom severity (ADOS total score) was best predicted by response speed on a set-shifting task (IES) thought to tap fronto-striatal functions (corrected R(2) 56 %).
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36. Kishore TM. {{Intelligence and cognition in a child with high functioning autism}}. {Indian J Psychol Med};2012 (Oct);34(4):385-387.
Intelligence is assessed for ruling out mental retardation and to find out the relative cognitive strengths in autism. Of special interest is to know the nature of intelligence and cognition in high functioning autism. But very little is known how the assessments are carried given the deficits in communication, socialization in autism. This cross-sectional study aims to describe the nature of intelligence and cognition in a child with HFA and drawing implications for assessment in the Indian setting. Results indicate that there is no evidence for superior crystallized intelligence in HFA, though a jagged profile could be expected both across and within cognitive domains.
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37. Koldewyn K, Weigelt S, Kanwisher N, Jiang Y. {{Multiple object tracking in autism spectrum disorders}}. {J Autism Dev Disord};2013 (Jun);43(6):1394-1405.
Difficulties in visual attention are often implicated in autism spectrum disorders (ASD) but it remains unclear which aspects of attention are affected. Here, we used a multiple object tracking (MOT) task to quantitatively characterize dynamic attentional function in children with ASD aged 5-12. While the ASD group performed significantly worse overall, the group difference did not increase with increased object speed. This finding suggests that decreased MOT performance is not due to deficits in dynamic attention but instead to a diminished capacity to select and maintain attention on multiple targets. Further, MOT performance improved from 5 to 10 years in both typical and ASD groups with similar developmental trajectories. These results argue against a specific deficit in dynamic attention in ASD.
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38. Larsson G, Julu PO, Witt Engerstrom I, Sandlund M, Lindstrom B. {{Normal reactions to orthostatic stress in Rett syndrome}}. {Res Dev Disabil};2013 (Jun);34(6):1897-1905.
The aim of this study was to investigate orthostatic reactions in females with Rett syndrome (RTT), and also whether the severity of the syndrome had an impact on autonomic reactions. Based on signs of impaired function of the central autonomic system found in RTT, it could be suspected that orthostatic reactions were affected. The orthostatic reactions in 21 females with RTT and 14 normally developed females matched by age were investigated when they rose from a sitting position, and during standing for 3min. Reactions of the heart, the blood pressure and the time for recovery of systolic blood pressure, were studied in real time, heartbeat by heartbeat, simultaneously. There was no difference between participants with RTT and the normally developed controls regarding general orthostatic reactions (heart rate, systolic and diastolic blood pressure, and mean arterial pressure) when getting up from a sitting position, and when standing erect for 3min. In the specific immediate response by the heart to standing up, the 30:15 ratio, significantly lower values were found for females with RTT. In the RTT group, the maximum fall of systolic blood pressure showed a tendency to a larger decrease, and the initial decrease in systolic blood pressure was significantly faster. The time for recovery of systolic blood pressure from standing erect did not differ between groups. At baseline the females with RTT had significantly lower systolic blood pressure and a tendency to a higher heart rate. The results do not indicate any autonomic limitations for people with RTT in getting up from a sitting position and standing. The participants with RTT had normal orthostatic reactions indicated by the heart and blood pressure responses when standing erect for 3min. A faster initial drop in systolic blood pressure in people with RTT was notable.
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39. Lemonnier E, Robin G, Degrez C, Tyzio R, Grandgeorge M, Ben-Ari Y. {{Treating Fragile X syndrome with the diuretic bumetanide: a case report}}. {Acta Paediatr};2013 (Jun);102(6):e288-290.
We report that daily administration of the diuretic NKCC1 chloride co-transporter, bumetanide, reduces the severity of autism in a 10-year-old Fragile X boy using CARS, ADOS, ABC, RDEG and RRB before and after treatment. In keeping with extensive clinical use of this diuretic, the only side effect was a small hypokalaemia. A double-blind clinical trial is warranted to test the efficacy of bumetanide in FRX. Conclusion: This single case report showed an improvement of the scores of each test used after 3 months of treatment. Double-blind clinical trials are warranted to test the efficacy of bumetanide in FRX.
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40. Lucock M, Leeming R. {{Autism, seasonality and the environmental perturbation of epigenome related vitamin levels}}. {Med Hypotheses};2013 (Jun);80(6):750-755.
An argument is put forward for environmental modulators of photolabile or photosynthetic vitamins mediating autism risk via a complex downstream interaction of genetic/epigenetic phenomena that provide an explanation for seasonality in this and other developmentally originated disorders.
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41. Mandell DS. {{Adults with autism-a new minority}}. {J Gen Intern Med};2013 (Jun);28(6):751-752.
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42. Marshall J, Hill RJ, Dodrill P. {{A survey of practice for clinicians working with children with autism spectrum disorders and feeding difficulties}}. {Int J Speech Lang Pathol};2013 (Jun);15(3):279-285.
Abstract The aim of this study was to document information from allied health clinicians about children on their caseload with autism spectrum disorders and feeding difficulties. An electronic survey was disseminated to clinicians working with this group around Australia, where 150 responses were returned and 96 were able to be analysed. Variability in responses was observed for service delivery models, frequency of input, referral reasons, and intervention choices. The majority of respondents identified limited-to-average knowledge of feeding therapy options for this population. Clinician confidence was significantly correlated with perceived therapy success. Results of the survey suggest a need for clinical guidelines in the area to direct practice. Low levels of clinician confidence and perceived therapy success also highlight a need for ongoing research and training.
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43. McDougle CJ. {{Sounding a wake-up call: improving the lives of adults with autism}}. {J Am Acad Child Adolesc Psychiatry};2013 (Jun);52(6):566-568.
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44. Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Beri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L. {{Additional evidence to support the role of the 20q13.33 region in susceptibility to autism}}. {Am J Med Genet A};2013 (Jun);161(6):1505-1507.
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45. Newton CR, Chugani DC. {{The continuing role of ICNA in Africa: how to tackle autism?}}. {Dev Med Child Neurol};2013 (Jun);55(6):488-489.
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46. Ni Chuileann S, Quigley J. {{Assessing recollection and familiarity in low functioning autism}}. {J Autism Dev Disord};2013 (Jun);43(6):1406-1422.
Methods to assess recollection and familiarity separately in autism spectrum disorder were recently developed and piloted (Bigham et al. in J Autism Dev Disord 40:878-889, 2010). The preliminary data obtained via these methods showed that whereas recollection was mildly impaired in high functioning autism, familiarity was spared. The current study set out to replicate the methods of assessment for recollection and familiarity devised by Bigham and her colleagues with individuals diagnosed with low functioning autism (LFA). Three critical modifications to the original paradigms were made within the current study. The modifications and implications of the findings for individuals with LFA will be discussed.
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47. Nicolaidis C, Raymaker D, McDonald K, Dern S, Boisclair WC, Ashkenazy E, Baggs A. {{Comparison of healthcare experiences in autistic and non-autistic adults: a cross-sectional online survey facilitated by an academic-community partnership}}. {J Gen Intern Med};2013 (Jun);28(6):761-769.
BACKGROUND: Little is known about the healthcare experiences of adults on the autism spectrum. Moreover, autistic adults have rarely been included as partners in autism research. OBJECTIVE: To compare the healthcare experiences of autistic and non-autistic adults via an online survey. METHODS: We used a community-based participatory research (CBPR) approach to adapt survey instruments to be accessible to autistic adults and to conduct an online cross-sectional survey. We assessed preliminary psychometric data on the adapted scales. We used multivariate analyses to compare healthcare experiences of autistic and non-autistic participants. RESULTS: Four hundred and thirty-seven participants completed the survey (209 autistic, 228 non-autistic). All adapted scales had good to excellent internal consistency reliability (alpha 0.82-0.92) and strong construct validity. In multivariate analyses, after adjustment for demographic characteristics, health insurance, and overall health status, autistic adults reported lower satisfaction with patient-provider communication (beta coefficient -1.9, CI -2.9 to -0.9), general healthcare self-efficacy (beta coefficient -11.9, CI -14.0 to -8.6), and chronic condition self-efficacy (beta coefficient -4.5, CI -7.5 to -1.6); higher odds of unmet healthcare needs related to physical health (OR 1.9 CI 1.1-3.4), mental health (OR 2.2, CI 1.3-3.7), and prescription medications (OR 2.8, CI 2.2-7.5); lower self-reported rates of tetanus vaccination (OR 0.5, CI 0.3-0.9) and Papanicolaou smears (OR 0.5, CI 0.2-0.9); and greater odds of using the emergency department (OR 2.1, CI 1.8-3.8). CONCLUSION: A CBPR approach may facilitate the inclusion of people with disabilities in research by increasing researchers’ ability to create accessible data collection instruments. Autistic adults who use the Internet report experiencing significant healthcare disparities. Efforts are needed to improve the healthcare of autistic individuals, including individuals who may be potentially perceived as having fewer disability-related needs.
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48. Papadopoulos N, Rinehart N, Bradshaw JL, McGinley JL. {{Brief Report: Children with ADHD Without Co-morbid Autism do not have Impaired Motor Proficiency on the Movement Assessment Battery for Children}}. {J Autism Dev Disord};2013 (Jun);43(6):1477-1482.
Motor proficiency was investigated in a sample of children with Attention Deficit Hyperactivity Disorder-Combined type (ADHD-CT) without autism. Accounting for the influence of co-morbid autistic symptoms in ADHD motor studies is vital given that motor impairment has been linked to social-communication symptoms in children who have co-morbid ADHD and autistic-like symptoms. Two groups of children aged between 7-14 years were recruited; children with ADHD-CT (n = 16; mean age 10 years, 7 months [SD = 1 year, 10 months]) and a typically developing (n = 16; mean age 10 years, 6 months [SD = 2 years, 6 months]) group. Motor proficiency was measured using the Movement Assessment Battery for Children-2nd Edition, ADHD symptoms were measured using the Conner’s Parent Rating Scale. Children with ADHD-CT who had been screened for co-morbid autism did not display motor difficulties on the MABC-2. Higher levels of inattention, but not hyperactivity or impulsivity were associated with poorer motor performance. These findings provide indirect evidence that the motor problems that children with ADHD experience may be related to co-occurring social responsiveness impairments.
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49. Post SG, Pomeroy J, Keirns CC, Cover VI, Dorn ML, Boroson L, Boroson F, Coulehan A, Coulehan J, Covell K, Kubasek K, Luchsinger E, Nichols S, Parles J, Schreiber L, Tetenbaum SP, Walsh RA. {{Brief report: stony brook guidelines on the ethics of the care of people with autism and their families}}. {J Autism Dev Disord};2013 (Jun);43(6):1473-1476.
The increased prevalence of autism spectrum disorders (ASD), with associated societal and clinical impacts, calls for a broad community-based dialogue on treatment related ethical and social issues. The Stony Brook Guidelines, based on a community dialogue process with affected individuals, families and professionals, identify and discuss the following topics: treatment goals and happiness, distributive justice, managing the hopes for a cure, sibling responsibilities, intimacy and sex, diagnostic ethics, and research ethics. Our guidelines, based not on « top-down » imposition of professional expertise but rather on « bottom-up » grass roots attention to the voices of affected individuals and families speaking from experience, can inform clinical practice and are also meaningful for the wider social conversation emerging over the treatment of individuals with ASD.
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50. Reed SR, Stahmer AC, Suhrheinrich J, Schreibman L. {{Stimulus overselectivity in typical development: implications for teaching children with autism}}. {J Autism Dev Disord};2013 (Jun);43(6):1249-1257.
Stimulus overselectivity is widely accepted as a stimulus control abnormality in autism spectrum disorders and subsets of other populations. Previous research has demonstrated a link between both chronological and mental age and overselectivity in typical development. However, the age at which children are developmentally ready to respond to discriminations involving simultaneous multiple cues has not been established. Thirty-seven typically developing preschoolers completed a task requiring response to simultaneous cues (color and shape) to establish the age at which typically developing children can successfully respond to multiple cues. Results demonstrate that typically developing children under 36 months of age have difficulty responding to multiple cues. Implications for behavioral treatment for autism are discussed.
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51. Reinvall O, Voutilainen A, Kujala T, Korkman M. {{Neurocognitive functioning in adolescents with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Jun);43(6):1367-1379.
There is a paucity of research studying comprehensive neurocognitive profiles of adolescents with higher functioning autism spectrum disorders (ASD). This study compared the neurocognitive profiles of higher functioning adolescents with ASD (n = 30, mean age 13.5) with that of typically developing adolescents (n = 30; mean age 13.7). Adolescents with ASD demonstrated a significantly higher mean Verbal Intelligence Quotient compared to the standardized mean. However, the ASD group had significantly lower scores than the control group on the subtests Auditory Attention and Response Set, Memory for Faces, Visuomotor Precision, and Design Copying. Thus, particular strengths were seen in verbal reasoning, while weaknesses were observed in auditory attention, facial recognition memory, and visuomotor functions in adolescents with ASD.
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52. Richmond LL, Thorpe M, Berryhill ME, Klugman J, Olson IR. {{Individual differences in autistic trait load in the general population predict visual working memory performance}}. {Q J Exp Psychol (Hove)};2013 (Jun);66(6):1182-1195.
Prior studies have reported instances of both intact and impaired working memory (WM) performance in people with autism spectrum disorder (ASD). In order to investigate the relation between autistic traits that extend into the normal population and WM, 104 normal college-aged students who varied in their levels of autistic traits were tested. The loading of ASD-associated traits in the normal population leads to differing predictions about WM performance. ASD traits related to a local processing style (or « attention to detail ») might enhance WM while ASD-associated traits related to difficulty switching attention and reorienting focus (or « social interaction ») might impair WM performance. To assess these predictions, participants filled out the Autism Spectrum Quotient (AQ) and performed a working memory task with both visual and verbal variants. AQ scores were then broken into « attention to detail » and « social interaction » factors, as proposed by Hoekstra and colleagues. The results showed that AQ scores did not predict verbal WM performance but they did predict visual WM performance. The social interaction and attention to detail factors of the AQ had opposing relationships with visual WM performance: A higher level of social difficulty was associated with significantly poorer visual WM performance while a higher level of attention to detail was associated with enhanced visual WM performance. Further investigation of the relation between AQ and WM using the original five-factor model proposed by Baron-Cohen and colleagues (2001) revealed an association between impoverished imagination and visual WM overall.
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53. Ruble LA, McGrew JH, Toland MD, Dalrymple NJ, Jung LA. {{A randomized controlled trial of COMPASS web-based and face-to-face teacher coaching in autism}}. {J Consult Clin Psychol};2013 (Jun);81(3):566-572.
Objective: Most children with autism rely on schools as their primary source of intervention, yet research has suggested that teachers rarely use evidence-based practices. To address the need for improved educational outcomes, a previously tested consultation intervention called the Collaborative Model for Promoting Competence and Success (COMPASS; Ruble, Dalrymple, & McGrew, 2010; Ruble, Dalrymple, & McGrew, 2012) was evaluated in a 2nd randomized controlled trial, with the addition of a web-based group. Method: Forty-nine teacher-child dyads were randomized into 1 of 3 groups: (1) a placebo control (PBO) group, (2) COMPASS followed by face-to-face (FF) coaching sessions, and (3) COMPASS followed by web-based (WEB) coaching sessions. Three individualized goals (social, communication, and independence skills) were selected for intervention for each child. The primary outcome of independent ratings of child goal attainment and several process measures (e.g., consultant and teacher fidelity) were evaluated. Results: Using an intent-to-treat approach, findings replicated earlier results with a very large effect size (d = 1.41) for the FF group and a large effect size (d = 1.12) for the WEB group relative to the PBO group. There were no differences in overall change across goal domains between the FF and WEB groups, suggesting the efficacy of videoconferencing technology. Conclusions: COMPASS is effective and results in improved educational outcomes for young children with autism. Videoconferencing technology, as a scalable tool, has promise for facilitating access to autism specialists and bridging the research-to-practice gap. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
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54. Sandiford GA, Mainess KJ, Daher NS. {{A pilot study on the efficacy of melodic based communication therapy for eliciting speech in nonverbal children with autism}}. {J Autism Dev Disord};2013 (Jun);43(6):1298-1307.
The purpose of this study was to compare the efficacy of Melodic Based Communication Therapy (MBCT) to traditional speech and language therapy for eliciting speech in nonverbal children with autism. Participants were 12 nonverbal children with autism ages 5 through 7 randomly assigned to either treatment group. Both groups made significant progress after treatment. The MBCT group progressed significantly in number of verbal attempts after weeks 1 through 4 and number of correct words after weeks 1 and 3, while the traditional group progressed significantly after weeks 4 and 5. No significant differences in number of verbal attempts or number of correct words were noted between groups following treatment. A significant number of new words were heard in the home environment for the MBCT group (p = .04). Participants in the MBCT group had more imitative attempts (p = .03). MBCT appears to be a valid form of intervention for children with autism.
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55. Scheeren AM, de Rosnay M, Koot HM, Begeer S. {{Rethinking theory of mind in high-functioning autism spectrum disorder}}. {J Child Psychol Psychiatry};2013 (Jun);54(6):628-635.
Background: The sociocommunicative problems in autism spectrum disorder (ASD) are traditionally linked to impairments in Theory of Mind (ToM), the ability to ascribe mental states to others. Although ToM impairments are consistently reported in young children with ASD, findings on more advanced ToM understanding in older individuals with high-functioning ASD (HFASD) are less straightforward. Therefore, we assessed the advanced ToM abilities of a large sample of school-aged children and adolescents with HFASD (n = 194; 6-20 years) and compared them to a typically developing (TD) comparison group (n = 60). Methods: Participants’ advanced ToM was assessed with five social stories containing second-order false beliefs, display rules, double bluff, faux pas, and sarcasm. Results: Participants with HFASD performed equally well on each of the ToM stories as their TD peers. Consistent age effects were noticed with adolescents outperforming the children. Furthermore, advanced ToM was positively associated with participants’ age, verbal abilities, and general reasoning abilities. Conclusions: Counter to what the ToM theory of ASD would predict, school-aged children and adolescents with HFASD seem to be able to master the theoretical principles of advanced mental state reasoning. However, they may still fail to apply these theoretical principles during everyday social interactions.
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56. Schlosser RW, Laubscher E, Sorce J, Koul R, Flynn S, Hotz L, Abramson J, Fadie H, Shane H. {{Implementing Directives that Involve Prepositions with Children with Autism: A Comparison of Spoken Cues with Two Types of Augmented Input}}. {Augment Altern Commun};2013 (Jun);29(2):132-145.
Abstract Some children with autism face considerable challenges with comprehension, including difficulties following spoken directives involving prepositional relations. The use of augmented input through visual modalities might be an effective means for supplementing spoken language. The purpose of this preliminary study was to compare spoken input with two augmented input modalities (i.e., speech + visual cues) in terms of children’s ability to follow directives involving prepositions. The augmented input modalities consisted of static scene cues (i.e., photographic or pictorial visual scenes that portray relevant concepts and their relationships) and dynamic scene cues (i.e., full-motion video clips that depict the actions underlying relevant concepts and their relationships). A within-subjects design involving nine children with autism or pervasive developmental disorders-not otherwise specified was used to examine the effectiveness of the three input conditions. Results indicated that both static scene cues and dynamic scene cues were more effective than spoken cues, but there were no differences between static scene cues and dynamic scene cues. Results are discussed in terms of appropriate instructional inputs for children with autism. Limitations are noted and directions for future research are posited.
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57. Shivers CM, Deisenroth LK, Taylor JL. {{Patterns and predictors of anxiety among siblings of children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Jun);43(6):1336-1346.
The purpose of this study was to examine patterns of anxiety among siblings of children with autism spectrum disorders (ASD), and determine the characteristics of the child with ASD and their parents that predicted anxiety. Data was collected from 1,755 siblings of children with ASD whose families participated in the Simons Simplex Collection; siblings ranged in age from 3 to 18 years (M = 9 years). Male siblings were at increased risk for sub-clinical anxiety problems during middle childhood. Parental history of anxiety disorders, higher maternal pragmatic language, and more proband behavior problems predicted higher anxiety. While siblings overall did not show elevated anxiety symptoms, higher rates of sub-clinical anxiety problems among males and siblings in middle childhood are cause for concern.
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58. Singman E, Matta N, Fairward A, Silbert D. {{Evaluation of plusoptiX Photoscreening During Examinations of Children with Autism}}. {Strabismus};2013 (Jun);21(2):103-105.
Abstract Purpose: We evaluated the reliability of the the plusoptiX photoscreener compared to a standard pediatric eye exam offered to children with autism. Methods: This is a retrospective chart review of children diagnosed with autism seen at one pediatric ophthalmology practice. Results: Twenty-five children were evaluated. The plusoptiX was found to have a sensitivity of 88% and a specificity of 87% in identifying amblyopia risk factors based on the current American Association for Pediatric Ophthalmology and Strabismus referral criteria. Conclusion: Pediatric vision screening can be especially challenging in children with autism. Minimizing the need for examinations in these children is important. While the plusoptiX does not perform as well when applied to children with autism as it does when offered to children in the general population, it is still a useful tool.
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59. Stavropoulos KK, Carver LJ. {{Research Review: Social motivation and oxytocin in autism – implications for joint attention development and intervention}}. {J Child Psychol Psychiatry};2013 (Jun);54(6):603-618.
BACKGROUND AND SCOPE: The social motivation hypothesis (SMH) suggests that individuals with autism spectrum disorders (ASD) are less intrinsically rewarded by social stimuli than their neurotypical peers. This difference in social motivation has been posited as a factor contributing to social deficits in ASD. Social motivation is thought to involve the neuropeptide oxytocin. Here, we review the evidence for oxytocin effects in ASD, and discuss its potential role in one important social cognitive behavior. METHODS: Systematic searches were conducted using the PsychINFO and MEDLINE databases and the search terms ‘oxytocin’ and ‘autism’; the same databases were used for separate searches for ‘joint attention’, ‘intervention’, and ‘autism’, using the same inclusion criteria as an earlier 2011 review but updating it for the period 2010 to October 2012. FINDINGS: Several studies suggest that giving oxytocin to both individuals with ASD and neurotypical individuals can enhance performance on social cognitive tasks. Studies that have attempted to intervene in joint attention in ASD suggest that social motivation may be a particular obstacle to lasting effects. CONCLUSIONS: The review of the evidence for the SMH suggests a potential role for oxytocin in social motivation deficits in ASD. Because of its importance for later communicative and social development, the focus here is on implications of oxytocin and social motivation in the development of and interventions in joint attention. Joint attention is a central impairment in ASD, and as a result is the focus of several behavioral interventions. In describing this previous research on joint attention interventions in ASD, we pay particular attention to problems encountered in such studies, and propose ways that oxytocin may facilitate behavioral intervention in this area. For future research, integrating behavioral and pharmacological interventions (oxytocin administration) would be a worthwhile experimental direction to improve understanding of the role of oxytocin in ASD and help optimize outcomes for children with ASD.
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60. Swettenham J, Remington A, Laing K, Fletcher R, Coleman M, Gomez JC. {{Perception of pointing from biological motion point-light displays in typically developing children and children with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Jun);43(6):1437-1446.
We examined whether the movement involved in a pointing gesture, depicted using point-light displays, is sufficient to cue attention in typically developing children (TD) and children with autism spectrum disorder (ASD) (aged 8-11 years). Using a Posner-type paradigm, a centrally located display indicated the location of a forthcoming target on 80 % of trials and the opposite location on 20 % of trials. TD children, but not children with ASD, were faster to identify a validly cued target than an invalidly cued target. A scrambled version of the point-light pointing gesture, retaining individual dot speed and direction of movement but not the configuration, produced no validity effect in either group. A video of a pointing gesture produced validity effects in both groups.
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61. Tang G, Gutierrez Rios P, Kuo SH, Akman HO, Rosoklija G, Tanji K, Dwork A, Schon EA, Dimauro S, Goldman J, Sulzer D. {{Mitochondrial abnormalities in temporal lobe of autistic brain}}. {Neurobiol Dis};2013 (Jun);54:349-361.
Autism spectrum disorder (ASD) consists of a group of complex developmental disabilities characterized by impaired social interactions, deficits in communication and repetitive behavior. Multiple lines of evidence implicate mitochondrial dysfunction in ASD. In postmortem BA21 temporal cortex, a region that exhibits synaptic pathology in ASD, we found that compared to controls, ASD patients exhibited altered protein levels of mitochondria respiratory chain protein complexes, decreased Complex I and IV activities, decreased mitochondrial antioxidant enzyme SOD2, and greater oxidative DNA damage. Mitochondrial membrane mass was higher in ASD brain, as indicated by higher protein levels of mitochondrial membrane proteins Tom20, Tim23 and porin. No differences were observed in either mitochondrial DNA or levels of the mitochondrial gene transcription factor TFAM or cofactor PGC1alpha, indicating that a mechanism other than alterations in mitochondrial genome or mitochondrial biogenesis underlies these mitochondrial abnormalities. We further identified higher levels of the mitochondrial fission proteins (Fis1 and Drp1) and decreased levels of the fusion proteins (Mfn1, Mfn2 and Opa1) in ASD patients, indicating altered mitochondrial dynamics in ASD brain. Many of these changes were evident in cortical pyramidal neurons, and were observed in ASD children but were less pronounced or absent in adult patients. Together, these findings provide evidence that mitochondrial function and intracellular redox status are compromised in pyramidal neurons in ASD brain and that mitochondrial dysfunction occurs during early childhood when ASD symptoms appear.
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62. van Rijn S, de Sonneville L, Lahuis B, Pieterse J, van Engeland H, Swaab H. {{Executive Function in MCDD and PDD-NOS: A Study of Inhibitory Control, Attention Regulation and Behavioral Adaptivity}}. {J Autism Dev Disord};2013 (Jun);43(6):1356-1366.
A proportion of children within the autism spectrum is at risk for severe deregulation of thought, emotion and behaviour resulting in (symptoms of) psychotic disorders over the course of development. In an attempt to identify this subgroup, children with PDD-NOS, subtype MCDD (n = 24) were compared to children with PDD-NOS (n = 23) on executive function (EF) skills. Significant differences emerged, always to the disadvantage of the children with PDD-NOS, subtype MCDD on various EF measures. The findings suggest compromised attention regulation and impaired inhibitory control in children with MCDD, which may help explain high levels of thought problems which are frequently observed in these children. Our findings provide evidence for recognizing a PDD subcategory of MCDD that is of specific interest with regard to long-term developmental risks involved.
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63. Watson SL, Coons KD, Hayes SA. {{Autism spectrum disorder and fetal alcohol spectrum disorder. Part I: A comparison of parenting stress}}. {J Intellect Dev Disabil};2013 (Jun);38(2):95-104.
Abstract Background There is a long history of research on parents of children with disabilities, but to the authors’ knowledge, no study has compared the stress of parents of children with fetal alcohol spectrum disorder (FASD) to parents of children with autism spectrum disorder (ASD). Method Twenty-five parents of children with ASD and 25 parents of children with FASD completed the Parenting Stress Index – Short Form (PSI-SF) and the Questionnaire on Resources and Stress – Friedrich’s Version (QRS-F). Results Although both parent groups reported elevated stress, PSI-SF results indicated that parents of children with FASD were experiencing significantly more stress compared to parents of children with ASD. No significant differences were found between groups on the total QRS-F, but parents of children with FASD had higher scores on the Pessimism subscale. Conclusions The authors call for measures grounded in theory as well as mixed methods research that includes the subjective experience of parents’ stress.
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64. Watson SL, Hayes SA, Coons KD, Radford-Paz E. {{Autism spectrum disorder and fetal alcohol spectrum disorder. Part II: A qualitative comparison of parenting stress}}. {J Intellect Dev Disabil};2013 (Jun);38(2):105-113.
Abstract Background Researchers investigating the impact of parenting children with disabilities suggest that regardless of the specific diagnosis, parents experience increased levels of stress. However, particular disabilities may be associated with distinct stressors and strains. Method Parents of children with autism spectrum disorder (ASD) and parents of children with fetal alcohol spectrum disorder (FASD) participated in in-depth qualitative interviews employing a basic interpretative approach. Results Both groups described some similar stressors, such as multi-tasking, the diagnostic process, and dealing with behavioural issues, but there are distinct differences between families of children with FASD and families of children with ASD. Whereas parents of children with FASD focused on their children’s illegal behaviours, parents of children with ASD struggled with their children’s tantrums and anxieties. Conclusions Supports must be tailored to meet the specific needs of parents of children with different types of disabilities.
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65. Wilson LB, Tregellas JR, Slason E, Pasko BE, Hepburn S, Rojas DC. {{Phonological processing in first-degree relatives of individuals with autism: an fMRI study}}. {Hum Brain Mapp};2013 (Jun);34(6):1447-1463.
Autism spectrum disorders (ASD) are complex neurodevelopmental disorders. Twin studies have provided heritability estimates as high as 90% for idiopathic ASD. Further evidence for the spectrum’s heritability is provided by the presence of the broad autism phenotype (BAP) in unaffected first-degree relatives. Language ability, specifically phonological processing, is proposed to be a core BAP trait. To date, however, no functional neuroimaging investigations of phonological processing in relatives of individuals with ASD have been undertaken. We conducted a functional magnetic resonance imaging (fMRI) study in parents of children with ASD utilizing a priming task probing implicit phonological processing. In our condition that placed heavier demands on phonological recoding, parents exhibited greater hemodynamic responses than controls in a network of cortical regions involved in phonological processing. Across conditions, parents exhibited enhanced priming-induced response suppression suggesting compensatory neural processing. A nonword repetition test used in previous studies of relatives was also administered. Correlations between this measure and our functional measures also suggested compensatory processing in parents. Regions exhibiting atypical responses in parents included regions previously implicated in the spectrum’s language impairments and found to exhibit structural abnormalities in a parent study. These results suggest a possible neurobiological substrate of the phonological deficits proposed to be a core BAP trait. However, these results should be considered preliminary. No previous fMRI study has investigated phonological processing in ASD, so replication is required. Furthermore, interpretation of our fMRI results is limited by the fact that the parent group failed to exhibit behavioral evidence of phonological impairments.
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66. Wisniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwinska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczaluba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. {{Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders}}. {Eur J Hum Genet};2013 (Jun);21(6):620-625.
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, including childhood autism, atypical autism, and Asperger syndrome, with an estimated prevalence of 1.0-2.5% in the general population. ASDs have a complex multifactorial etiology, with genetic causes being recognized in only 10-20% of cases. Recently, copy-number variants (CNVs) have been shown to contribute to over 10% of ASD cases. We have applied a custom-designed oligonucleotide array comparative genomic hybridization with an exonic coverage of over 1700 genes, including 221 genes known to cause autism and autism candidate genes, in a cohort of 145 patients with ASDs. The patients were classified according to ICD-10 standards and the Childhood Autism Rating Scale protocol into three groups consisting of 45 individuals with and 69 individuals without developmental delay/intellectual disability (DD/ID), and 31 patients, in whom DD/ID could not be excluded. In 12 patients, we have identified 16 copy-number changes, eight (5.5%) of which likely contribute to ASDs. In addition to known recurrent CNVs such as deletions 15q11.2 (BP1-BP2) and 3q13.31 (including DRD3 and ZBTB20), and duplications 15q13.3 and 16p13.11, our analysis revealed two novel genes clinically relevant for ASDs: ARHGAP24 (4q21.23q21.3) and SLC16A7 (12q14.1). Our results further confirm the diagnostic importance of array CGH in detection of CNVs in patients with ASDs and demonstrate that CNVs are an important cause of ASDs as a heterogeneous condition with a variety of contributory genes.
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67. Woodman AC, Hauser-Cram P. {{The role of coping strategies in predicting change in parenting efficacy and depressive symptoms among mothers of adolescents with developmental disabilities}}. {J Intellect Disabil Res};2013 (Jun);57(6):513-530.
Background Parents of children with developmental disabilities (DD) face greater caregiving demands than parents of children without DD. There is considerable variability in parents’ adjustment to raising a child with DD, however. In line with a strengths-based approach, this study explores coping strategies as potential mechanisms of resilience among mothers of adolescents with DD. This study examines the frequency with which mothers use various coping strategies and the extent to which those strategies moderate the relationship between adolescent behaviour problems and aspects of maternal well-being. Both positive and negative dimensions of well-being are explored, with maternal depressive symptoms and perceived parenting efficacy examined as outcomes cross-sectionally and longitudinally. Methods The present study focuses on 92 mothers and their adolescents with DD. The adolescents had a wide range of diagnoses, all with continuing special needs. Data were collected from mothers through interviews and self-administered questionnaires when their adolescents were aged 15 and aged 18. A structured assessment of the adolescent was completed during home visits at age 15. Results Mothers reported frequently using strategies of denial and planning but rarely using strategies of mental and behavioural disengagement to cope with recent stressful situations. Adolescent behaviour problems were found to contribute to greater symptoms of depression and lower feelings of parenting efficacy as well as increases in depressive symptoms over time. Mothers of sons, but not daughters, reported increases in parenting efficacy across their child’s adolescent period. Above and beyond adolescent factors, several coping strategies emerged as significant predictors of mothers’ symptoms of depression and perceived parenting efficacy. Moreover, use of Active Coping/Planning, Positive Reinterpretation/Growth, and Behavioural/Mental Disengagement as coping strategies moderated the impact of adolescent behaviour problems on maternal depressive symptoms. Conclusions This study extends previous findings by focusing on both positive and negative dimensions of parent well-being during their child’s adolescent period. Adolescence can be a stressful time for parents, with typical developmental tasks entailing additional strains for parents of adolescents with DD. The present findings point to several coping strategies that may reduce the impact of challenging behaviours during this period on mothers’ symptoms of depression and feelings of parenting efficacy. Certain coping strategies were found to exert a greater impact on maternal well-being for parents of adolescents with higher levels of behaviour problems, suggesting that interventions may benefit from an increased focus on this group of mothers with heightened caregiving demands.
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68. Yakubova G, Taber-Doughty T. {{Brief report: learning via the electronic interactive whiteboard for two students with autism and a student with moderate intellectual disability}}. {J Autism Dev Disord};2013 (Jun);43(6):1465-1472.
The effects of a multicomponent intervention (a self-operated video modeling and self-monitoring delivered via an electronic interactive whiteboard (IWB) and a system of least prompts) on skill acquisition and interaction behavior of two students with autism and one student with moderate intellectual disability were examined using a multi-probe across students design. Students were taught to operate and view video modeling clips, perform a chain of novel tasks and self-monitor task performance using a SMART Board IWB. Results support the effectiveness of a multicomponent intervention in improving students’ skill acquisition. Results also highlight the use of this technology as a self-operated and interactive device rather than a traditional teacher-operated device to enhance students’ active participation in learning.
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69. Yerys BE, Ruiz E, Strang J, Sokoloff J, Kenworthy L, Vaidya CJ. {{Modulation of attentional blink with emotional faces in typical development and in autism spectrum disorders}}. {J Child Psychol Psychiatry};2013 (Jun);54(6):636-643.
Background: The attentional blink (AB) phenomenon was used to assess the effect of emotional information on early visual attention in typically developing (TD) children and children with autism spectrum disorders (ASD). The AB effect is the momentary perceptual unawareness that follows target identification in a rapid serial visual processing stream. It is abolished or reduced for emotional stimuli, indicating that emotional information has privileged access to early visual attention processes. Methods: We examined the AB effect for faces with neutral and angry facial expressions in 8- to 14-year-old children with and without an ASD diagnosis. Results: Children with ASD exhibited the same magnitude AB effect as TD children for both neutral and angry faces. Conclusions: Early visual attention to emotional facial expressions was preserved in children with ASD.
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70. Zablotsky B, Bradshaw CP, Stuart EA. {{The association between mental health, stress, and coping supports in mothers of children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Jun);43(6):1380-1393.
Raising a child with an autism spectrum disorder (ASD) can be a stressful experience for parents. When left unmanaged, high stress levels can lead to the development of depressive symptomatology, highlighting the importance of coping supports. The current paper examined the stress level and psychological wellbeing of mothers with a child with ASD in a national survey. After adjusting for child, mother and family level characteristics, it was determined that mothers of children with ASDs were at greater risk for poor mental health and high stress levels compared to mothers of children without ASDs. The presence of maternal coping strategies, in the form of emotional and neighborhood social supports, as well as strong coping skills, reduced these risks between models.
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71. Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E. {{Autism spectrum disorders: The quest for genetic syndromes}}. {Am J Med Genet B Neuropsychiatr Genet};2013 (Jun);162(4):327-366.
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disabilities with various etiologies, but with a heritability estimate of more than 90%. Although the strong correlation between autism and genetic factors has been long established, the exact genetic background of ASD remains unclear. A number of genetic syndromes manifest ASD at higher than expected frequencies compared to the general population. These syndromes account for more than 10% of all ASD cases and include tuberous sclerosis, fragile X, Down, neurofibromatosis, Angelman, Prader-Willi, Williams, Duchenne, etc. Clinicians are increasingly required to recognize genetic disorders in individuals with ASD, in terms of providing proper care and prognosis to the patient, as well as genetic counseling to the family. Vice versa, it is equally essential to identify ASD in patients with genetic syndromes, in order to ensure correct management and appropriate educational placement. During investigation of genetic syndromes, a number of issues emerge: impact of intellectual disability in ASD diagnoses, identification of autistic subphenotypes and differences from idiopathic autism, validity of assessment tools designed for idiopathic autism, possible mechanisms for the association with ASD, etc. Findings from the study of genetic syndromes are incorporated into the ongoing research on autism etiology and pathogenesis; different syndromes converge upon common biological backgrounds (such as disrupted molecular pathways and brain circuitries), which probably account for their comorbidity with autism. This review paper critically examines the prevalence and characteristics of the main genetic syndromes, as well as the possible mechanisms for their association with ASD. (c) 2013 Wiley Periodicals, Inc. (c) 2013 Wiley Periodicals, Inc.
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72. Zeidan-Chulia F, Rybarczyk-Filho JL, Salmina AB, de Oliveira BH, Noda M, Moreira JC. {{Exploring the Multifactorial Nature of Autism Through Computational Systems Biology: Calcium and the Rho GTPase RAC1 Under the Spotlight}}. {Neuromolecular Med};2013 (Jun);15(2):364-383.
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication accompanied with repetitive behavioral patterns and unusual stereotyped interests. Autism is considered a highly heterogeneous disorder with diverse putative causes and associated factors giving rise to variable ranges of symptomatology. Incidence seems to be increasing with time, while the underlying pathophysiological mechanisms remain virtually uncharacterized (or unknown). By systematic review of the literature and a systems biology approach, our aims were to examine the multifactorial nature of autism with its broad range of severity, to ascertain the predominant biological processes, cellular components, and molecular functions integral to the disorder, and finally, to elucidate the most central contributions (genetic and/or environmental) in silico. With this goal, we developed an integrative network model for gene-environment interactions (GENVI model) where calcium (Ca(2+)) was shown to be its most relevant node. Moreover, considering the present data from our systems biology approach together with the results from the differential gene expression analysis of cerebellar samples from autistic patients, we believe that RAC1, in particular, and the RHO family of GTPases, in general, could play a critical role in the neuropathological events associated with autism.
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73. Zur O, Ronen A, Melzer I, Carmeli E. {{Vestibulo-ocular response and balance control in children and young adults with mild-to-moderate intellectual and developmental disability: A pilot study}}. {Res Dev Disabil};2013 (Jun);34(6):1951-1957.
The vestibulo-ocular response (VOR) may not be fully developed in children with an intellectual and developmental disability (IDD). This study aimed to identify the presence of VOR deficit in children and young adults with unspecified mild-to-moderate intellectual and developmental disability and its effect on balance control. Twenty-one children and young adults with IDD ranging in age from 8 to 22 years (mean 17.5+/-3.9 years) were included in the study. The VOR was evaluated with the Head Impulse Test and the Static and Dynamic Visual Acuity Test (S&D-VAT). Postural stability was measured in an upright standing position by the Clinical Test for Sensory Interaction in Balance (CTSIB), single leg stance (SLS) during eyes open and eyes closed, and Romberg stance under eyes open and eyes closed conditions using a force platform. Reduced vestibulo-ocular responses were found in 13 of 21 (62%) participants who were able to complete testing. In the fifth condition of the CTSIB (standing on foam with eyes closed), those without VOR deficit were able to maintain balance longer than those with VOR deficit (29s [median 30] vs. 12s [median 7.3], respectively; p=0.03). The study demonstrates potential effects of VOR deficit in children and young adults with IDD and some significant differences in balance control between those with and without a VOR deficit. VOR function in children and young adults with IDD should be routinely tested to enable early detection of deficits.
