1. Anninos P, Chatzimichael A, Adamopoulos A, Kotini A, Tsagas N. {{A combined study of MEG and pico-Tesla TMS on children with autism disorder}}. {J Integr Neurosci};2016 (Nov 23):1-17.
Magnetoencephalographic (MEG) recordings from the brain of 10 children with autism (6 boys and 4 girls, with ages range from 5-12 years, mean[Formula: see text][Formula: see text][Formula: see text]SD: 8.3[Formula: see text][Formula: see text][Formula: see text]2.1) were obtained using a whole-head 122-channel MEG system in a magnetically shielded room of low magnetic noise. A double-blind experimental design was used in order to look for possible effect of external pico-Tesla Transcranial Magnetic Stimulation (pT-TMS). The pT-TMS was applied on the brain of the autistic children with proper field characteristics (magnetic field amplitude: 1-7.5[Formula: see text]pT, frequency: the alpha – rhythm of the patient 8-13[Formula: see text]Hz). After unblinding it was found a significant effect of an increase of frequencies in the range of 2-7[Formula: see text]Hz across the subjects followed by an improvement and normalization of their MEG recordings. The statistical analysis of our results shown a statistical significance at 6 out of 10 patients (60%). It is also observed an increase of alpha activity in autistic children at the end of one month after pT-TMS treatment at home. In conclusion, the application of pT-TMS has the prospective to be a noninvasive, safe and important modality in the management of autism children.
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2. Ben-Sasson A, Yom-Tov E. {{Online Concerns of Parents Suspecting Autism Spectrum Disorder in Their Child: Content Analysis of Signs and Automated Prediction of Risk}}. {J Med Internet Res};2016 (Nov 22);18(11):e300.
BACKGROUND: Online communities are used as platforms by parents to verify developmental and health concerns related to their child. The increasing public awareness of autism spectrum disorders (ASD) leads more parents to suspect ASD in their child. Early identification of ASD is important for early intervention. OBJECTIVE: To characterize the symptoms mentioned in online queries posed by parents who suspect that their child might have ASD and determine whether they are age-specific. To test the efficacy of machine learning tools in classifying the child’s risk of ASD based on the parent’s narrative. METHODS: To this end, we analyzed online queries posed by parents who were concerned that their child might have ASD and categorized the warning signs they mentioned according to ASD-specific and non-ASD-specific domains. We then used the data to test the efficacy with which a trained machine learning tool classified the degree of ASD risk. Yahoo Answers, a social site for posting queries and finding answers, was mined for queries of parents asking the community whether their child has ASD. A total of 195 queries were sampled for this study (mean child age=38.0 months; 84.7% [160/189] boys). Content text analysis of the queries aimed to categorize the types of symptoms described and obtain clinical judgment of the child’s ASD-risk level. RESULTS: Concerns related to repetitive and restricted behaviors and interests (RRBI) were the most prevalent (75.4%, 147/195), followed by concerns related to language (61.5%, 120/195) and emotional markers (50.3%, 98/195). Of the 195 queries, 18.5% (36/195) were rated by clinical experts as low-risk, 30.8% (60/195) as medium-risk, and 50.8% (99/195) as high-risk. Risk groups differed significantly (P<.001) in the rate of concerns in the language, social, communication, and RRBI domains. When testing whether an automatic classifier (decision tree) could predict if a query was medium- or high-risk based on the text of the query and the coded symptoms, performance reached an area under the receiver operating curve (ROC) curve of 0.67 (CI 95% 0.50-0.78), whereas predicting from the text and the coded signs resulted in an area under the curve of 0.82 (0.80-0.86). CONCLUSIONS: Findings call for health care providers to closely listen to parental ASD-related concerns, as recommended by screening guidelines. They also demonstrate the need for Internet-based screening systems that utilize parents' narratives using a decision tree questioning method. Lien vers le texte intégral (Open Access ou abonnement)
3. Connolly S, Anney R, Gallagher L, Heron EA. {{A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3}}. {Eur J Hum Genet};2016 (Nov 23)
Autism spectrum disorder (ASD) is known to be a heritable neurodevelopmental disorder affecting more than 1% of the population but in the majority of ASD cases, the genetic cause has not been identified. Parent-of-origin effects have been highlighted as an important mechanism in the pathology of neurodevelopmental disorders such as Prader-Willi and Angelman syndrome, with individuals with these syndromes often exhibiting ASD symptoms. Consequently, systematic investigation of these effects in ASD is clearly an important line of investigation in elucidating the underlying genetic mechanisms. Using estimation of maternal, imprinting and interaction effects using multinomial modelling (EMIM), we simultaneously investigated imprinting, maternal genetic effects and associations in the Autism Genome Project and Simons Simplex Consortium genome-wide association data sets. To avoid using the overly stringent genome-wide association study significance level, we used a Bayesian threshold that takes into account the sample size, allele frequency and any available prior knowledge. Between the two data sets, we identified a total of 18 imprinting effects and 68 maternal genetic effects that met this Bayesian threshold criteria, but none met the threshold in both data sets. We identified imprinting and maternal genetic effects for regions that have previously shown evidence for parent-of-origin effects in ASD. Together with these findings, we have identified maternal genetic effects not previously identified in ASD at a locus in SHANK3 on chromosome 22 and a locus in WBSCR17 on chromosome 7 (associated with Williams syndrome). Both genes have previously been associated with ASD.European Journal of Human Genetics advance online publication, 23 November 2016; doi:10.1038/ejhg.2016.153.
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4. Dubey I, Ropar D, de CHAF. {{Brief Report: A Comparison of the Preference for Viewing Social and Non-social Movies in Typical and Autistic Adolescents}}. {J Autism Dev Disord};2016 (Nov 23)
The recently proposed Social Motivation theory (Chevallier et al., Trends in cognitive sciences 16(4):231-239, 2012) suggests that social difficulties in Autism Spectrum Condition (ASC) might be caused by a difference in the motivation to engage with other people. Here we compared adolescents with (N = 31) and without (N = 37) ASC on the Choose-a-Movie paradigm that measures the social seeking. The results showed a preference for viewing objects over smiling faces in ASC, which is in line with the theory of low social motivation. However, typical adolescents did not show any stimuli preferences, raising questions about developmental changes in social motivation. Age was found to play a significant role in moderating the choice behaviour of the participants. We discuss the implications of these findings in detail.
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5. Gunes S, Ekinci O, Ekinci N, Toros F. {{Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 23)
Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.
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6. Kim H, Lee Y, Park JY, Kim JE, Kim TK, Choi J, Lee JE, Lee EH, Kim D, Kim KS, Han PL. {{Loss of Adenylyl Cyclase Type-5 in the Dorsal Striatum Produces Autistic-Like Behaviors}}. {Mol Neurobiol};2016 (Nov 23)
Autism spectrum disorders (ASDs) are a heterogeneous group of psychiatric illness characterized by common core symptoms including sociability deficits and stereotyped behaviors. ASD is caused by various genetic and non-genetic factors. The genetic effects of autism-related genes are usually global and are presented with multiple symptoms, which hamper understanding of the mechanism through which the diverse causes of ASD produce common symptoms. In the present study, we demonstrate that genetic or molecular disruption of an array of molecular networks centered on adenylyl cyclase type-5 (AC5 or ADCY5) in the dorsal striatum produces autistic-like behaviors. AC5 knockout (KO) mice exhibit increased repetitive behaviors and sociability deficits, the two core domains of ASD, and that siRNA-mediated suppression of AC5 within the dorsal striatum is sufficient to replicate these behavioral phenotypes. Notably, the autistic-like behaviors of AC5 KO mice are rescued by blocking mGluR5 glutamate receptors within the dorsal striatum. Furthermore, pharmacological or siRNA-mediated inhibition of mGluR3, GluA and GluN glutamate receptors in the dorsal striatum in wildtype mice also induces autistic-like behaviors. Optogenetic inhibition of the prelimbic cortical neurons projecting to the dorsal striatum in AC5 KO mice rescues the deficits in social and object novelty preferences. Our results suggest that AC5 mutation produces autistic-like symptoms through the upregulation of mGluR5 functions in the dorsal striatum and that the dorsal striatum regulated by AC5 is a neural correlate responsible for core ASD symptoms.
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7. Kohyama J. {{Possible neuronal mechanisms of sleep disturbances in patients with autism spectrum disorders and attention-deficit/hyperactivity disorder}}. {Med Hypotheses};2016 (Dec);97:131-133.
The most common form of sleep disturbance among both patients with autism spectrum disorders and patients with attention-deficit/hyperactivity disorder is sleep-onset insomnia, but the neuronal mechanisms underlying it have yet to be elucidated and no specific treatment strategy has been proposed. This means that many caregivers struggle to manage this problem on a daily basis. This paper presents a hypothesis about the neuronal mechanisms underlying insomnia in patients with autism spectrum disorders and attention-deficit/hyperactivity disorder based on recent clinical and basic research. It is proposed that three neuronal mechanisms (increased orexinergic system activity, reduced 5-hydroxytryptamine and melatonergic system activity, rapid eye movement sleep reduction) are involved in insomnia in both autism spectrum disorders and attention-deficit/hyperactivity disorder. This suggests that antagonists against the orexin receptors may have beneficial effects on insomnia in patients with autism spectrum disorders or attention-deficit/hyperactivity disorder. To the best of the author’s knowledge there has been no research into the effects of this agent on insomnia in these patient groups. Large, controlled trials should be carried out.
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8. Niculae AS, Paval D. {{From molecules to behavior: An integrative theory of autism spectrum disorder}}. {Med Hypotheses};2016 (Dec);97:74-84.
Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders for which various theories have been proposed. Each theory brings valuable insights and has experimental evidence backing it, yet none provides an overarching explanation for each of the pathological aspects involved in ASD. Here we present an integrative theory of ASD, centered on a sequence of events spanning from the molecular to the behavioral level. We propose that an abnormality in the interplay between retinoic acid and sex hormones predisposes an individual to specific molecular malfunctions. In turn, this molecular syndrome generates an altered brain connectivity between the cerebellum, the midbrain dopaminergic areas, and the prefrontal cortex. Lastly, this disconnection would generate specific behavioral traits traditionally involved in ASD. Therefore, this paper represents a step forward in unifying different levels of pathological features into novel integrated testable hypotheses.
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9. Shaffer RC, Pedapati EV, Shic F, Gaietto K, Bowers K, Wink LK, Erickson CA. {{Brief Report: Diminished Gaze Preference for Dynamic Social Interaction Scenes in Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Nov 23)
In this study, we present an eye-tracking paradigm, adapted from previous work with toddlers, for assessing social-interaction looking preferences in youth ages 5-17 with ASD and typically-developing controls (TDC). Videos of children playing together (Social Scenes, SS) were presented side-by-side with animated geometric shapes (GS). Participants with ASD demonstrated reduced SS preferences compared to TDC, results also represented continuously by associations between higher SS preferences and fewer social difficulties across the combined sample. Exploratory analyses identified associations between increased SS preferences and higher Vineland Daily Living Skills in ASD and suggested SS preferences in TDC females might drive ASD versus TDC between-group differences. These findings describe potentially sex-linked couplings between preferences for social information and social functioning in school-aged children.
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10. Sperandio I, Unwin KL, Landry O, Chouinard PA. {{Size Constancy is Preserved but Afterimages are Prolonged in Typical Individuals with Higher Degrees of Self-Reported Autistic Traits}}. {J Autism Dev Disord};2016 (Nov 23)
Deficits in perceptual constancies from early infancy have been proposed to contribute to autism and exacerbate its symptoms (Hellendoorn et al., Frontiers in Psychology 6:1-16, 2015). Here, we examined size constancy in adults from the general population (N = 106) with different levels of self-reported autistic traits using an approach based on negative afterimages. The afterimage strength, as indexed by duration and vividness, was also quantified. In opposition to the Hellendoorn and colleagues’ model, we were unable to demonstrate any kind of relationship between abilities in size constancy and autistic traits. However, our results demonstrated that individuals with higher degrees of autistic traits experienced more persistent afterimages. We discuss possible retinal and post-retinal explanations for prolonged afterimages in people with higher levels of autistic traits.
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11. Strolin S, Minosse S, D’Andrea M, Fracchiolla F, Bruzzaniti V, Luppino S, Benassi M, Strigari L. {{Zero field PDD and TMR data for unflattened beams in conventional linacs: A tool for independent dose calculations}}. {Phys Med};2016 (Nov 18)
PURPOSE: To investigate the applicability of the formalism described in BJR supplement n.25 for Flattening Filter Free (FFF) beams in determining the zero-field tissue maximum ratio (TMR) for an independent calculation method of Percentage Depth Doses (PDDs) and relative dose factors (RDFs) at different experimental setups. METHODS: Experimental PDDs for field size from 40x40cm2 to 2x2cm2 with Source Surface Distance (SSD) 100cm were acquired. The normalized peak scatter factor for each square field was obtained by fitting experimental RDFs in water and collimator factors (CFs) in air. Maximum log-likelihood methods were used to extract fit parameters in competing models and the Bayesian Information Criterion was used to select the best one. In different experimental setups additional RDFs and TPR1020s for field sizes other than reference field were measured and Monte Carlo simulations of PDDs at SSD 80cm were carried out to validate the results. PDD agreements were evaluated by gamma analysis. RESULTS: The BJR formalism allowed to predict the PDDs obtained with MC within 2%/2mm at SSD 80cm from 100% down to 50% of the maximum dose. The agreement between experimental TPR1020s and RDFs values at SSD=90cm and BJR calculations were within 1% for field sizes greater than 5x5cm2 while it was within 3% for fields down to 2x2cm2. CONCLUSIONS: BJR formalism can be used for FFF beams to predict PDD and RDF at different SSDs and can be used for independent MU calculations.
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12. Wallace GL, Dudley K, Anthony L, Pugliese CE, Orionzi B, Clasen L, Lee NR, Giedd JN, Martin A, Raznahan A, Kenworthy L. {{Divergence of Age-Related Differences in Social-Communication: Improvements for Typically Developing Youth but Declines for Youth with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 23)
Although social-communication difficulties and repetitive behaviors are hallmark features of autism spectrum disorder (ASD) and persist across the lifespan, very few studies have compared age-related differences in these behaviors between youth with ASD and same-age typically developing (TD) peers. We examined this issue using SRS-2 (Social Responsiveness Scale-Second Edition) measures of social-communicative functioning and repetitive behaviors in a stratified cross-sectional sample of 324 youth with ASD in the absence of intellectual disability, and 438 TD youth (aged 4-29 years). An age-by-group interaction emerged indicating that TD youth exhibited age-related improvements in social-communication scores while the ASD group demonstrated age-related declines in these scores. This suggests that adolescents/adults with ASD may fall increasingly behind their same-age peers in social-communicative skills.
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13. Wilson J, Wright B, Jost S, Smith R, Pearce H, Richardson S. {{Can urinary indolylacroylglycine (IAG) levels be used to determine whether children with autism will benefit from dietary intervention?}}. {Pediatr Res};2016 (Nov 23)
BACKGROUND: An increase in urinary indolyl-3-acryloylglycine (IAG) has been reported in children with ASD who suffer with bowel problems in comparison to ASD children without gastrointestinal (GI) problems. The case for dietary intervention for ASD children with GI symptoms might be strengthened were such a difference to be autism-specific. METHODS: Quantitative analysis of urinary IAG levels was performed for 53 children on the autism spectrum and 146 age-matched controls. The parents of each child were asked to provide information on bowel symptoms experienced by the child and their eating habits over a period of two weeks. RESULTS: We find no significant difference in urinary IAG levels between the ASD children with GI problems and ASD children without GI problems. Although we see some difference between ASD children with GI problems and controls in mainstream schools with GI problems, the difference between non-autistic children with other developmental disorders and controls in mainstream schools is more significant so that any difference is not autism-specific. We find a strong correlation between bowel symptoms and diet problems in ASD children, especially idiosyncratic feeding behavior and we show that ASD children suffering from multiple bowel symptoms tend to be those who also have dietary problems. CONCLUSION: We found no evidence to support the hypothesis that children with ASD who suffer with bowel problems have increased levels of urinary indolyl-3-acryloylglycine in comparison to children with ASD who do not have gastrointestinal problems.
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14. Yadav S, Tiwari V, Singh M, Yadav RK, Roy S, Devi U, Gautam S, Rawat JK, Ansari MN, Saeedan AS, Prakash A, Saraf SA, Kaithwas G. {{Comparative efficacy of alpha-linolenic acid and gamma-linolenic acid to attenuate valproic acid-induced autism-like features}}. {J Physiol Biochem};2016 (Nov 22)
The present study was undertaken to elucidate the effect of alpha-linolenic acid (ALA, 18:3, omega-3) and gamma-linolenic acid (GLA, 18:3, omega-6) on experimental autism features induced by early prenatal exposure to valproic acid (VPA) in albino wistar pups. The pups were scrutinized on the accounts of behavioral, biochemical, and inflammatory markers, and the results suggested that the GLA can impart significant protection in comparison to ALA against VPA-induced autism features. When scrutinized histopathologically, the cerebellum of the GLA-treated animals was evident for more marked protection toward neuronal degeneration and neuronal loss in comparison to ALA. Concomitant administration of ALA and GLA with VPA demonstrated a marked cutdown in the Pgp 9.5 expression with GLA having more pronounced effect. Henceforth, it can be concluded that ALA and GLA can impart favorable protection against the VPA-induced autism-like features with GLA having pronounced effect.
