1. Baker JK, Fenning RM, Howland MA, Baucom BR, Moffitt J, Erath SA. {{Brief Report: A Pilot Study of Parent-Child Biobehavioral Synchrony in Autism Spectrum Disorder}}. {J Autism Dev Disord};2015 (Jul 17)
The theory of biobehavioral synchrony proposes that the predictive power of parent-child attunement likely lies in the manner with which behaviors are aligned with relevant biological processes. Symptoms of autism spectrum disorder (ASD) may challenge the formation of behavioral and physiological synchrony, but maintenance of such parent-child attunement could prove beneficial. The present study is the first to examine parent-child physiological synchrony in ASD. Parent and child electrodermal activity (EDA) was measured continuously during naturalistic free play. Parent-child EDA synchrony (positive covariation) was positively correlated with observed parent-child emotional attunement. Hierarchical linear modeling revealed that child ASD symptoms moderated the association between parent EDA and child EDA, such that EDA synchrony was stronger for children with lower ASD symptom levels.
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2. Brewer R, Happe F, Cook R, Bird G. {{Commentary on « Autism, oxytocin and interoception »: Alexithymia, not Autism Spectrum Disorders, is the consequence of interoceptive failure}}. {Neurosci Biobehav Rev};2015 (Jul 17)
In « Autism, oxytocin and interoception » (Neuroscience and Biobehavioral Reviews 47, 410-430) Quattrocki and Friston present their theory of the role of oxytocin in interoception from multiple perspectives. The arguments contained therein are compelling, and highlight the fact that interoception, and the role of oxytocin in interoception, should receive more research attention. However, in addition to outlining the role of oxytocin in interoception the authors also suggest that Autism Spectrum Disorder (ASD) is a result of a failure of this system. It is this latter claim that we disagree with, instead suggesting that alexithymia, rather than autism, is most accurately characterised as a general failure of interoception. We review positive evidence that alexithymia produces several of the deficits identified as indicating a failure of interoception, and negative evidence that ASD (in the absence of comorbid alexithymia) is associated with these deficits. We highlight implications for the model, for oxytocin research, and for the clinical management of psychiatric conditions more generally.
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3. Chowdhury M, Aman MG, Lecavalier L, Smith T, Johnson C, Swiezy N, McCracken JT, King B, McDougle CJ, Bearss K, Deng Y, Scahill L. {{Factor structure and psychometric properties of the revised Home Situations Questionnaire for autism spectrum disorder: The Home Situations Questionnaire-Autism Spectrum Disorder}}. {Autism};2015 (Jul 17)
Previously, we adapted the Home Situations Questionnaire to measure behavioral non-compliance in everyday settings in children with pervasive developmental disorders. In this study, we further revised this instrument for use in autism spectrum disorder and examined its psychometric properties (referred to as the Home Situations Questionnaire-Autism Spectrum Disorder). To cover a broader range of situations and improve reliability, we prepared seven new items describing situations in which children with autism spectrum disorder might display non-compliance. Parents completed ratings of 242 children with autism spectrum disorder with accompanying disruptive behaviors (ages 4-14 years) participating in one of two randomized clinical trials. Results from an exploratory factor analysis indicated that the Home Situations Questionnaire-Autism Spectrum Disorder consists of two 12-item factors: Socially Inflexible (alpha = 0.84) and Demand Specific (alpha = 0.89). One-to-two-week test-retest reliability was statistically significant for all scored items and also for subscale totals. The pattern of correspondence between the Home Situations Questionnaire-Autism Spectrum Disorder and parent-rated problem behavior, clinician-rated repetitive behavior, adaptive behavior, and IQ provided evidence for concurrent and divergent validity of the Home Situations Questionnaire-Autism Spectrum Disorder. Overall, the results suggest that the Home Situations Questionnaire-Autism Spectrum Disorder is an adequate measure for assessing non-compliance in a variety of situations in this population, and use of its two subscales will likely provide a more refined interpretation of ratings.
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4. Chung PJ, Vanderbilt DL, Soares NS. {{Social Behaviors and Active Videogame Play in Children with Autism Spectrum Disorder}}. {Games Health J};2015 (Jun);4(3):225-234.
OBJECTIVE: Children with autism spectrum disorder (ASD) often display problematic and excessive videogame play. Using active videogames (AVGs) may have physical benefits, but its effects on socialization are unknown. MATERIALS AND METHODS: We conducted an A-B-A’ experiment comparing sedentary videogames and AVGs for three dyads of a child with ASD and his sibling. An augmented reality (AR) game was used to introduce AVGs. Sessions were coded for communication, positive affect, and aggression. RESULTS: One dyad had increases in positive affect with AVGs. Otherwise, social behaviors were unchanged or worse. The AR game demonstrated consistent elevations in social behaviors. CONCLUSIONS: Use of AVGs has inconsistent effects on social behavior for children with ASD. Further research is needed to understand mediators of response to AVGs. AR games should be evaluated for potential benefits on socialization and positive affect.
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5. De Rubeis S, Buxbaum JD. {{Genetics and genomics of autism spectrum disorder: embracing complexity}}. {Hum Mol Genet};2015 (Jul 17)
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by impairments in social communication and social interaction and the presence of repetitive behaviors and/or restricted interests. ASD has profound etiological and clinical heterogeneity, which has impeded the identification of risk factors and pathophysiological processes underlying the disorder. A constellation of (i) types of genetic variation, (ii) modes of inheritance and (iii) specific genomic loci and genes have all recently been implicated in ASD risk, and these findings are currently being extended with functional analyses in model organisms and genotype-phenotype correlation studies. The overlap of risk loci between ASD and other NDDs raises intriguing questions around the mechanisms of risk. In this review, we will touch upon these aspects of ASD and how they might be addressed.
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6. Jiang L, Hou XH, Yang N, Yang Z, Zuo XN. {{Examination of Local Functional Homogeneity in Autism}}. {Biomed Res Int};2015;2015:174371.
Increasing neuroimaging evidence suggests that autism patients exhibit abnormal brain structure and function. We used the Autism Brain Imaging Data Exchange (ABIDE) sample to analyze locally focal (~8 mm) functional connectivity of 223 autism patients and 285 normal controls from 15 international sites using a recently developed surface-based approach. We observed enhanced local connectivity in the middle frontal cortex, left precuneus, and right superior temporal sulcus, and reduced local connectivity in the right insular cortex. The local connectivity in the right middle frontal gyrus was positively correlated with the total score of the autism diagnostic observation schedule whereas the local connectivity within the right superior temporal sulcus was positively correlated with total subscores of both the communication and the stereotyped behaviors and restricted interests of the schedule. Finally, significant interactions between age and clinical diagnosis were detected in the left precuneus. These findings replicated previous observations that used a volume-based approach and suggested possible neuropathological impairments of local information processing in the frontal, temporal, parietal, and insular cortices. Novel site-variability analysis demonstrated high reproducibility of our findings across the 15 international sites. The age-disease interaction provides a potential target region for future studies to further elucidate the neurodevelopmental mechanisms of autism.
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7. Leigh JP, Du J. {{Brief Report: Forecasting the Economic Burden of Autism in 2015 and 2025 in the United States}}. {J Autism Dev Disord};2015 (Jul 17)
Few US estimates of the economic burden of autism spectrum disorders (ASD) are available and none provide estimates for 2015 and 2025. We forecast annual direct medical, direct non-medical, and productivity costs combined will be $268 billion (range $162-$367 billion; 0.884-2.009 % of GDP) for 2015 and $461 billion (range $276-$1011 billion; 0.982-3.600 % of GDP) for 2025. These 2015 figures are on a par with recent estimates for diabetes and attention deficit and hyperactivity disorder (ADHD) and exceed the costs of stroke and hypertension. If the prevalence of ASD continues to grow as it has in recent years, ASD costs will likely far exceed those of diabetes and ADHD by 2025.
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8. Pasciuto E, Ahmed T, Wahle T, Gardoni F, D’Andrea L, Pacini L, Jacquemont S, Tassone F, Balschun D, Dotti CG, Callaerts-Vegh Z, D’Hooge R, Muller UC, Di Luca M, De Strooper B, Bagni C. {{Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome}}. {Neuron};2015 (Jul 15);87(2):382-398.
The Fragile X mental retardation protein (FMRP) regulates neuronal RNA metabolism, and its absence or mutations leads to the Fragile X syndrome (FXS). The beta-amyloid precursor protein (APP) is involved in Alzheimer’s disease, plays a role in synapse formation, and is upregulated in intellectual disabilities. Here, we show that during mouse synaptogenesis and in human FXS fibroblasts, a dual dysregulation of APP and the alpha-secretase ADAM10 leads to the production of an excess of soluble APPalpha (sAPPalpha). In FXS, sAPPalpha signals through the metabotropic receptor that, activating the MAP kinase pathway, leads to synaptic and behavioral deficits. Modulation of ADAM10 activity in FXS reduces sAPPalpha levels, restoring translational control, synaptic morphology, and behavioral plasticity. Thus, proper control of ADAM10-mediated APP processing during a specific developmental postnatal stage is crucial for healthy spine formation and function(s). Downregulation of ADAM10 activity at synapses may be an effective strategy for ameliorating FXS phenotypes.
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9. Ranjan S, Nasser JA. {{Nutritional Status of Individuals with Autism Spectrum Disorders: Do We Know Enough?}}. {Adv Nutr};2015 (Jul);6(4):397-407.
The incidence of individuals with autism spectrum disorders (ASDs) is on the rise; therefore, well-timed screening is important. Given that this is a nutritionally vulnerable population, it is imperative to conduct a detailed nutritional assessment so that timely and intensive interventions can be recommended. This review article summarizes the research, focusing on the nutritional status of individuals with ASDs based on their anthropometric measurements, biomarkers, and dietary assessments. Research examining anthropometric measurements reveals an abnormally accelerated rate of growth among children with autism but shows inconsistent findings on the prevalence of overweight/obesity in comparison with typically growing children. Although dysregulated amino acid metabolism, increased homocysteine, and decreased folate, vitamins B-6 and B-12, and vitamin D concentrations have been proposed as possible biomarkers for an early diagnosis of ASDs, research investigating their association with age, gender, severity, and other comorbid psychiatric/nonpsychiatric disorders is lacking. There is consensus that children with autism have selective eating patterns, food neophobia, limited food repertoire, and sensory issues. Although inadequate micronutrient but adequate macronutrient intakes are increasingly reported, there are inconsistent results about the extent and type of nutrient deficiencies. Identification and development of nutritional assessment indicators that serve as early warning signs during routine practice beginning at birth and extending throughout the child’s growth are necessary. With this population aging, there is also a dire need to study the adult population. A more vigorous role by nutrition professionals is warranted because management of potential comorbidities and contributory factors may be particularly problematic.
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10. Saez MA, Fernandez-Rodriguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpi JL, Orozco M, Lopez-Doriga A, Mila M, Perez-Jurado LA, Pineda M, Armstrong J, Lazaro C, Esteller M. {{Mutations in JMJD1C are involved in Rett syndrome and intellectual disability}}. {Genet Med};2015 (Jul 16)
PURPOSE: Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are known to occur in several of these syndromes. Herein, we aimed to identify whether mutations in the candidate histone demethylase JMJD1C (jumonji domain containing 1C) are implicated in these disorders. METHODS: We performed the mutational and functional analysis of JMJD1C in 215 cases of autism spectrum disorders, intellectual disability, and Rett syndrome without a known genetic defect. RESULTS: We found seven JMJD1C variants that were not present in any control sample (~ 6,000) and caused an amino acid change involving a different functional group. From these, two de novo JMJD1C germline mutations were identified in a case of Rett syndrome and in a patient with intellectual disability. The functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. We confirmed that JMJD1C protein is widely expressed in brain regions and that its depletion compromises dendritic activity. CONCLUSIONS: Our findings indicate that mutations in JMJD1C contribute to the development of Rett syndrome and intellectual disability.Genet Med advance online publication 16 July 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.100.
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11. Tan DW, Russell-Smith SN, Simons JM, Maybery MT, Leung D, Ng HL, Whitehouse AJ. {{Perceived Gender Ratings for High and Low Scorers on the Autism-Spectrum Quotient Consistent with the Extreme Male Brain Account of Autism}}. {PLoS One};2015;10(7):e0131780.
The Extreme Male Brain (EMB) theory posits that autistic traits are linked to excessive exposure to testosterone in utero. While findings from a number of studies are consistent with this theory, other studies have produced contradictory results. For example, some findings suggest that rather than being linked to hypermasculinization for males, or defeminization for females, elevated levels of autistic traits are instead linked to more androgynous physical features. The current study provided further evidence relevant to the EMB and androgony positions by comparing groups of males selected for high or low scores on the Autism-spectrum Quotient (AQ) as to the rated masculinity of their faces and voices, and comparable groups of females as to the rated femininity of their faces and voices. The voices of High-AQ males were rated as more masculine than those of Low-AQ males, while the faces of High-AQ females were rated as less feminine than those of Low-AQ females. There was no effect of AQ group on femininity ratings for female voices or on masculinity ratings for male faces. The results thus provide partial support for a link between high levels of autistic-like traits and hypermasculinization for males and defeminization for females, consistent with the EMB theory.
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12. Woynaroski T, Yoder P, Watson LR. {{Atypical Cross-Modal Profiles and Longitudinal Associations Between Vocabulary Scores in Initially Minimally Verbal Children With ASD}}. {Autism Res};2015 (Jul 14)
We tested the relative levels (i.e., age equivalencies) of concurrent cross-modality (receptive and expressive) vocabulary and the relative strength of the longitudinal, cross-modality associations between early and later vocabulary sizes in minimally verbal preschoolers with ASD. Eighty-seven children participated. Parent-reported vocabulary was assessed at four periods separated by 4 months each. Expressive age equivalent scores were higher than receptive age equivalent scores at all four periods. Cross-lagged panel analysis was used to rule out common, but trivial, explanations for differences between the longitudinal associations of interest. Key associations were tested across intervals that varied from 8 to 12 months. In two of the three tested panels, the associations between early expressive vocabulary size and later receptive vocabulary size were stronger than the associations between early receptive vocabulary size and later expressive vocabulary size, providing evidence that is consistent with the hypothesis that expressive vocabulary size drives receptive vocabulary size in minimally verbal preschoolers with ASD. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
