1. Aoki Y, Cortese S, Tansella M. {{Neural bases of atypical emotional face processing in autism: A meta-analysis of fMRI studies}}. {World J Biol Psychiatry};2014 (Sep 29):1-10.
Objectives. We aim to outline the neural correlates of atypical emotional face processing in individuals with ASD. Methods. A comprehensive literature search was conducted through electronic databases to identify functional magnetic resonance imaging (fMRI) studies of whole brain analysis with emotional-face processing tasks in individuals with ASD. The Signed Differential Mapping with random effects model was used to conduct meta-analyses. Identified fMRI studies were further divided into sub-groups based on contrast (« emotional-face vs. non-emotional-face » or « emotional-face vs. non-face ») to confirm the results of a meta-analysis of the whole studies. Results. Thirteen studies with 226 individuals with ASD and 251 typically developing people were identified. We found ASD-related hyperactivation in subcortical structures, including bilateral thalamus, bilateral caudate, and right precuneus, and ASD-related hypoactivation in the hypothalamus during emotional-face processing. Sub-analyses with more homogeneous contrasts preserved the findings of the main analysis such as hyperactivation in sub-cortical structure. Jackknife analyses showed that hyperactivation of the left caudate was the most robust finding. Conclusions. Abnormalities in the subcortical structures, such as amygdala, hypothalamus and basal ganglia, are associated with atypical emotional-face processing in individuals with ASD.
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2. Bacon C, Schneider M, Le Magueresse C, Froehlich H, Sticht C, Gluch C, Monyer H, Rappold GA. {{Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour}}. {Mol Psychiatry};2014 (Sep 30)
Neurodevelopmental disorders are multi-faceted and can lead to intellectual disability, autism spectrum disorder and language impairment. Mutations in the Forkhead box FOXP1 gene have been linked to all these disorders, suggesting that it may play a central role in various cognitive and social processes. To understand the role of Foxp1 in the context of neurodevelopment leading to alterations in cognition and behaviour, we generated mice with a brain-specific Foxp1 deletion (Nestin-CreFoxp1-/-mice). The mutant mice were viable and allowed for the first time the analysis of pre- and postnatal neurodevelopmental phenotypes, which included a pronounced disruption of the developing striatum and more subtle alterations in the hippocampus. More detailed analysis in the CA1 region revealed abnormal neuronal morphogenesis that was associated with reduced excitability and an imbalance of excitatory to inhibitory input in CA1 hippocampal neurons in Nestin-CreFoxp1-/- mice. Foxp1 ablation was also associated with various cognitive and social deficits, providing new insights into its behavioural importance.Molecular Psychiatry advance online publication, 30 September 2014; doi:10.1038/mp.2014.116.
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3. Bambini-Junior V, Zanatta G, Nunes GD, Melo GM, Michels M, Dutra M, Freire VN, Riesgo R, Gottfried C. {{Resveratrol prevents autistic-like social deficts in animal model induced by valproic acid}}. {Neurosci Lett};2014 (Sep 25)
Autism spectrum disorders (ASD) involve a complex interplay of both genetic and environmental risk factors, such as prenatal exposure to valproic acid (VPA). Considering the neuroprotective, antioxidant and anti-inflammatory effects of resveratrol (RSV), we investigated the influence of prenatal RSV treatment on social behaviors of a rodent model of autism induced by prenatal exposure to VPA. In the three-chambered apparatus test, the VPA group showed a reduced place preference conditioned by conspecific and no preference between exploring a wire-cage or a rat enclosed inside a wire cage, revealing sociability impairments. Prenatal administration of RSV prevented the VPA-induced social impairments evaluated in this study. A bioinformatics analysis was used to discard possible molecular interactions between VPA and RSV during administration. The interaction energy between RSV and VPA is weak and highly unstable, suggesting cellular effects instead of a single chemical process. In summary, the present study highlights a promising experimental strategy to evaluate new molecular targets possibly involved in the etiology of autism and developmental alterations implicated in neural and behavioral impairments in ASD.
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4. Bavin EL, Kidd E, Prendergast L, Baker E, Dissanayake C, Prior M. {{Severity of Autism is Related to Children’s Language Processing}}. {Autism Res};2014 (Sep 26)
Problems in language processing have been associated with autism spectrum disorder (ASD), with some research attributing the problems to overall language skills rather than a diagnosis of ASD. Lexical access was assessed in a looking-while-listening task in three groups of 5- to 7-year-old children; two had high-functioning ASD (HFA), an ASD severe (ASD-S) group (n = 16) and an ASD moderate (ASD-M) group (n = 21). The third group were typically developing (TD) (n = 48). Participants heard sentences of the form « Where’s the x? » and their eye movements to targets (e.g., train), phonological competitors (e.g., tree), and distractors were recorded. Proportions of looking time at target were analyzed within 200 ms intervals. Significant group differences were found between the ASD-S and TD groups only, at time intervals 1000-1200 and 1200-1400 ms postonset. The TD group was more likely to be fixated on target. These differences were maintained after adjusting for language, verbal and nonverbal IQ, and attention scores. An analysis using parent report of autistic-like behaviors showed higher scores to be associated with lower proportions of looking time at target, regardless of group. Further analysis showed fixation for the TD group to be significantly faster than for the ASD-S. In addition, incremental processing was found for all groups. The study findings suggest that severity of autistic behaviors will impact significantly on children’s language processing in real life situations when exposed to syntactically complex material. They also show the value of using online methods for understanding how young children with ASD process language. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Chen LS, Li C, Wang CH, Amuta A, Li M, Huang TY, Dhar SU, Talwar D, Jang E. {{Autism Spectrum Disorders: Perceptions of Genetic Etiology and Recurrence Risk among Taiwanese Parents of Affected Children}}. {Clin Genet};2014 (Sep 30)
In Taiwan, Autism Spectrum Disorders (ASD) are an emerging public health concern. The ongoing scientific progress for understanding the genetic etiology of ASD makes it increasingly important to examine how parents of children with ASD perceive the causes and recurrence risk of having another child with ASD. These perceptions may influence their family planning, attitudes toward genetic services, and willingness to take their children for ASD genetic testing. However, previous studies addressing this issue were conducted primarily in western countries. As culture might shape an individual’s views of genetic/genomic disorders, this first-of-its-kind study examined the perceptions of the genetic etiology for ASD and the recurrence risk among Taiwanese parents of children affected with ASD. In-depth, semi-structured interviews were conducted among 39 parents having at least one child with ASD. Although the majority of participants believed that ASD has a genetic link, less than half perceived genetic factors as the cause of their own child’s ASD. Moreover, all participants articulated their recurrence risk incorrectly. Some parents were concerned about their doctors’ limited genomic competencies. In order to provide parents with better education, counseling, and support for making reproductive decisions, ASD-related genomic education among Taiwanese physicians is needed.
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6. Di Napoli A, Warrier V, Baron-Cohen S, Chakrabarti B. {{Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome}}. {Mol Autism};2014;5(1):48.
BACKGROUND: Autism Spectrum Conditions (ASC) are a group of neurodevelopmental conditions characterized by impairments in communication and social interaction, alongside unusually repetitive behaviors and narrow interests. ASC are highly heritable and have complex patterns of inheritance where multiple genes are involved, alongside environmental and epigenetic factors. Asperger Syndrome (AS) is a subgroup of these conditions, where there is no history of language or cognitive delay. Animal models suggest a role for oxytocin (OXT) and oxytocin receptor (OXTR) genes in social-emotional behaviors, and several studies indicate that the oxytocin/oxytocin receptor system is altered in individuals with ASC. Previous studies have reported associations between genetic variations in the OXTR gene and ASC. METHODS: The present study tested for an association between nine single nucleotide polymorphisms (SNPs) in the OXTR gene and AS in 530 individuals of Caucasian origin, using SNP association test and haplotype analysis. RESULTS: There was a significant association between rs2268493 in OXTR and AS. Multiple haplotypes that include this SNP (rs2268493-rs2254298, rs2268490-rs2268493-rs2254298, rs2268493-rs2254298-rs53576, rs237885-rs2268490-rs2268493-rs2254298, rs2268490-rs2268493-rs2254298-rs53576) were also associated with AS. rs2268493 has been previously associated with ASC and putatively alters several transcription factor-binding sites and regulates chromatin states, either directly or through other variants in linkage disequilibrium (LD). CONCLUSIONS: This study reports a significant association of the sequence variant rs2268493 in the OXTR gene and associated haplotypes with AS.
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7. Ha VS, Whittaker A, Whittaker M, Rodger S. {{Living with autism spectrum disorder in Hanoi, Vietnam}}. {Soc Sci Med};2014 (Sep 22);120C:278-285.
There is limited understanding of Autism spectrum disorder (ASD) in Vietnam. This ethnographic study aimed to explore how ASD is represented and managed in the cultural, social and economic contexts of Vietnam, and describe the experiences of families with children with ASD in Hanoi, Vietnam. This study was conducted from 2011 to 2012 in Hanoi and employed a range of methods, including participant observation, in-depth interviews with 27 parents of children with ASD and 17 key informants, and online survey. This study found that within Hanoi, Vietnam, ASD has been culturally and socially constructed as a ‘disease’, ‘karmic demerit’ and ‘family problem’ rather than a life-long developmental disorder that needs support from government. Children with ASD and their families experience various forms of stigma and discrimination. There are limitations in assessment and diagnosis of ASD. Parents of children with ASD have little access to services for their children, and the limited political and economic supports exacerbate their difficulties. This study highlights some of the ways in which the understandings and management of ASD vary cross culturally. It also suggests further attention is required to the provision of appropriate public education, low cost interventions and support for family advocacy groups.
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8. Ingalhalikar M, Parker WA, Bloy L, Roberts TP, Verma R. {{Creating multimodal predictors using missing data: Classifying and subtyping autism spectrum disorder}}. {J Neurosci Methods};2014 (Sep 30);235:1-9.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by wide range of symptoms and severity including domains such as language impairment (LI). This study aims to create a quantifiable marker of ASD and a stratification marker for LI using multimodality imaging data that can handle missing data by including subjects that fail to complete all the aspects of a multimodality imaging study, obviating the need to remove subjects with incomplete data, as is done by conventional methods. METHODS: An ensemble of classifiers with several subsets of complete data is employed. The outputs from such subset classifiers are fused using a weighted aggregation giving an aggregate probabilistic score for each subject. Such fusion classifiers are created to obtain a marker for ASD and to stratify LI using three categories of features, two extracted from separate auditory tasks using magnetoencephalography (MEG) and the third extracted from diffusion tensor imaging (DTI). RESULTS: A clear distinction between ASD and neurotypical controls (5-fold accuracy of 83.3% and testing accuracy of 87%) and between ASD/+LI and ASD/-LI (5-fold accuracy of 70.1% and testing accuracy of 61.1%) was obtained. One of the MEG features, mismatch field (MMF) latency contributed the most to group discrimination, followed by DTI features from superior temporal white matter and superior longitudinal fasciculus as determined by feature ranking. COMPARISON WITH EXISTING METHODS: Higher classification accuracy was achieved in comparison with single modality classifiers. CONCLUSION: This methodology can be readily applied in large studies where high percentage of missing data is expected.
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9. Johnson MH, Gliga T, Jones E, Charman T. {{Annual Research Review: Infant development, autism, and ADHD – early pathways to emerging disorders}}. {J Child Psychol Psychiatry};2014 (Sep 30)
BACKGROUND: Autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) are two of the most common neurodevelopmental disorders, with a high degree of co-occurrence. METHODS: Prospective longitudinal studies of infants who later meet criteria for ASD or ADHD offer the opportunity to determine whether the two disorders share developmental pathways. RESULTS: Prospective studies of younger siblings of children with autism have revealed a range of infant behavioral and neural markers associated with later diagnosis of ASD. Research on infants with later ADHD is less developed, but emerging evidence reveals a number of relations between infant measures and later symptoms of inattention and hyperactivity. CONCLUSIONS: We review this literature, highlighting points of convergence and divergence in the early pathways to ASD and ADHD.
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10. McMahon J, Cullinan V. {{Education programmes for young children with Autism Spectrum Disorder: An Evaluation Framework}}. {Res Dev Disabil};2014 (Sep 25);35(12):3689-3697.
Autism researchers have identified a common set of practices that form the basis of quality programming in ASD yet little is known regarding the implementation of these practices in community settings. The purpose of this paper was to outline an Evaluation Framework for use in evaluating ASD programmes of education that will provide valuable information as to the sensitivity of programmes to best practice, establish how programmes are operating and the programme effect on students and their families. The move towards more rigorous evaluation will provide quality information as to the degree of adoption of research led practices in the community setting which heretofore has been largely unavailable.
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11. Muldoon M, Ousley OY, Kobrynski LJ, Patel S, Oster ME, Fernandez-Carriba S, Cubells JF, Coleman K, Pearce BD. {{The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome}}. {Eur Arch Psychiatry Clin Neurosci};2014 (Sep 30)
22q11 deletion syndrome (22qDS), also known as DiGeorge syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months, whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p < 0.05), Speech (p < 0.01), and Symbolic domains (p < 0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes.
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12. Rosenblau G, Kliemann D, Heekeren HR, Dziobek I. {{Approximating Implicit and Explicit Mentalizing with Two Naturalistic Video-Based Tasks in Typical Development and Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Sep 30)
Individuals with autism spectrum disorder (ASD) have been proposed to show greater impairments in implicit than explicit mentalizing. To test this proposition, we developed two comparable naturalistic tasks for a performance-based approximation of implicit and explicit mentalizing in 28 individuals with ASD and 23 matched typically developed (TD) participants. Although both tasks were sensitive to the social impairments of individuals with ASD, implicit mentalizing was not more dysfunctional than explicit mentalizing. In TD participants, performance on the tasks did not correlate with each other, whereas in individuals with ASD they were highly correlated. These findings suggest that implicit and explicit mentalizing processes are separable in typical development. In contrast, in individuals with ASD implicit and explicit mentalizing processes are similarly impaired and closely linked suggesting a lack of developmental specification of these processes in ASD.
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13. Sokhadze EM, El-Baz AS, Tasman A, Sears LL, Wang Y, Lamina EV, Casanova MF. {{Neuromodulation Integrating rTMS and Neurofeedback for the Treatment of Autism Spectrum Disorder: An Exploratory Study}}. {Appl Psychophysiol Biofeedback};2014 (Sep 30)
Autism spectrum disorder (ASD) is a pervasive developmental disorder characterized by deficits in social interaction, language, stereotyped behaviors, and restricted range of interests. In previous studies low frequency repetitive transcranial magnetic stimulation (rTMS) has been used, with positive behavioral and electrophysiological results, for the experimental treatment in ASD. In this study we combined prefrontal rTMS sessions with electroencephalographic (EEG) neurofeedback (NFB) to prolong and reinforce TMS-induced EEG changes. The pilot trial recruited 42 children with ASD (~14.5 years). Outcome measures included behavioral evaluations and reaction time test with event-related potential (ERP) recording. For the main goal of this exploratory study we used rTMS-neurofeedback combination (TMS-NFB, N = 20) and waitlist (WTL, N = 22) groups to examine effects of 18 sessions of integrated rTMS-NFB treatment or wait period) on behavioral responses, stimulus and response-locked ERPs, and other functional and clinical outcomes. The underlying hypothesis was that combined TMS-NFB will improve executive functions in autistic patients as compared to the WTL group. Behavioral and ERP outcomes were collected in pre- and post-treatment tests in both groups. Results of the study supported our hypothesis by demonstration of positive effects of combined TMS-NFB neurotherapy in active treatment group as compared to control WTL group, as the TMS-NFB group showed significant improvements in behavioral and functional outcomes as compared to the WTL group.
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14. Solomon R, Van Egeren LA, Mahoney G, Quon Huber MS, Zimmerman P. {{PLAY Project Home Consultation Intervention Program for Young Children With Autism Spectrum Disorders: A Randomized Controlled Trial}}. {J Dev Behav Pediatr};2014 (Oct);35(8):475-485.
OBJECTIVE: To evaluate the effectiveness of the Play and Language for Autistic Youngsters (PLAY) Project Home Consultation model, in combination with usual community services (CS), to improve parent-child interaction, child development, and autism symptomatology in young children with autism spectrum disorders (ASDs) compared with CS only. METHODS: Children (N = 128) with autism or PDD-NOS (DSM-4 criteria) aged 2 years 8 months to 5 years 11 months and recruited from 5 disability agencies in 4 US states were randomized in two 1-year cohorts. Using videotape and written feedback within a developmental framework, PLAY consultants coached caregivers monthly for 12 months to improve caregiver-child interaction. CS included speech/language and occupational therapy and public education services. Primary outcomes included change in parent-child interactions, language and development, and autism-related diagnostic category/symptoms. Secondary outcomes included parent stress and depression and home consultant fidelity. Data were collected pre- and post-intervention. RESULTS: Using intent-to-treat analysis (ITT), large treatment effects were evident for parent and child interactional behaviors on the Maternal and Child Behavior Rating Scales. Child language and developmental quotient did not differ over time by group, although functional development improved significantly. PLAY children improved in diagnostic categories on the Autism Diagnostic Observation Schedule (ADOS). PLAY caregivers’ stress did not increase, and depressive symptomatology decreased. Home consultants administered the intervention with fidelity. CONCLUSIONS: PLAY intervention demonstrated substantial changes in parent-child interaction without increasing parents’ stress/depression. ADOS findings must be interpreted cautiously because results do not align with clinical experience. PLAY offers communities a relatively inexpensive effective intervention for children with ASD and their parents.
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15. Sun X, Allison C, Auyeung B, Baron-Cohen S, Brayne C. {{Parental concerns, socioeconomic status, and the risk of autism spectrum conditions in a population-based study}}. {Res Dev Disabil};2014 (Sep 25);35(12):3678-3688.
A total number of 11,635 screening packs were distributed to 5-10 year-old children in 136 schools in Cambridgeshire to investigate the associations between levels of parental concern (none/minor/strong), socioeconomic status and the risk of having Autism Spectrum Conditions (ASC). The variables for investigating associations and possible confounders were extracted for analysis, including parental concern question score, SES, age of the child, sex, maternal age at birth, paternal age at birth, mother’s age of leaving education, father’s age of leaving education, birth order and the number of children in the family. The SES, age of the child, sex and mother’s age at leaving education were associated with parental concern. Parents with higher SES reported higher levels of concern (Chi-square=11.8; p=0.02). However, a higher SES was not associated with the risk of having ASC (p=0.50). After adjusting for potential confounders, the odds of children meeting ASC criteria whose parents had reported strong parental concern were 8.5 times (odds ratio: 8.5; 95%CI: 4.5, 16.2; p<0.001) the odds of children having ASC whose parents reported minor concern. No child met ASC criteria where parents expressed no concerns. Parents with higher social class express more concerns than those from lower social classes. However, the concerns reported by parents in higher SES did not appear to be specific for ASC as there was no relationship between ASC and SES.
