Pubmed du 17/10/19

jeudi 17 octobre 2019

1. Balestrieri E, Cipriani C, Matteucci C, Benvenuto A, Coniglio A, Argaw-Denboba A, Toschi N, Bucci I, Miele MT, Grelli S, Curatolo P, Sinibaldi-Vallebona P. Children With Autism Spectrum Disorder and Their Mothers Share Abnormal Expression of Selected Endogenous Retroviruses Families and Cytokines. Front Immunol ;2019 ;10:2244.

The Autism Spectrum Disorder (ASD) is a heterogeneous group of neurodevelopmental disorders, only clinically diagnosed since the lack of reliable biomarkers. Autism etiology is probably attributable to the combination of genetic vulnerability and environmental factors, and recently, maternal immune activation has been linked to derailed neurodevelopment, resulting in ASD in the offspring. Human endogenous retroviruses (HERVs) are relics of ancestral infections, stably integrated in the human DNA. Given the HERV persistence in the genome, some of HERVs have been co-opted for physiological functions during evolution, while their reactivation has been associated with several pathological conditions, including cancer, autoimmune, and neurological and psychiatric disorders. Particularly, due to their intrinsic responsiveness to external stimuli, HERVs can modulate the host immune response and in turn HERVs can be activated by the immune effectors. In previous works we demonstrated high expression levels of HERV-H in blood of autistic patients, closely related with the severity of the disease. Moreover, in a preclinical ASD model we proved changes of expression of several ERV families and cytokines from the intrauterine life to the adulthood, and across generations via maternal lineage. Here we analyzed the expression of HEMO and of selected HERVs and cytokines in blood from ASD patients and their parents and corresponding healthy controls, to look for a common molecular trait within family members. ASD patients and their mothers share altered expression of HERV-H and HEMO and of cytokines such as TNF-alpha, IFN-gamma, IL-10. The multivariate regression models showed a mother-child association by HEMO activity and demonstrated in children and mothers an association between HERV-H and HEMO expression and, only in mothers, between HEMO, and TNF-alpha expression. Furthermore, high diagnostic performance for HERV-H and HEMO was found, suggesting their potential application for the identification of ASD children and their mothers. The present data support the involvement of HERVs in ASD and suggest HERVs and cytokines as ASD-associated traits. Since ASD is a heterogeneous group of neurodevelopmental disorders, a single determinant alone could be not enough to account for the complexity, and HERV/cytokines expression could be considered in a set of biomarkers, easily detectable in blood, and potentially useful for an early diagnosis.

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2. Bos DJ, Silver BM, Barnes ED, Ajodan EL, Silverman MR, Clark-Whitney E, Tarpey T, Jones RM. Adolescent-Specific Motivation Deficits in Autism Versus Typical Development. J Autism Dev Disord ;2019 (Oct 17)

Differences in motivation during adolescence relative to childhood and adulthood in autism was tested in a cross-sectional study. 156 Typically developing individuals and 79 individuals with autism ages 10-30 years of age completed a go/nogo task with social and non-social cues. To assess age effects, linear and quadratic models were used. Consistent with prior studies, typically developing adolescents and young adults demonstrated more false alarms for positive relative to neutral social cues. In autism, there were no changes in attention across age for social or non-social cues. Findings suggest reduced orienting to motivating cues during late adolescence and early adulthood in autism. The findings provide a unique perspective to explain the challenges for adolescents with autism transitioning to adulthood.

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3. Ferreira JP, Ghiarone T, Junior CRC, Furtado GE, Carvalho HM, Rodrigues AM, Toscano CVA. Effects of Physical Exercise on the Stereotyped Behavior of Children with Autism Spectrum Disorders. Medicina (Kaunas) ;2019 (Oct 14) ;55(10)

Background and Objectives : Recent studies have shown the existence of a positive relationship between physical exercise, symptomatic improvement, and reduction of damage caused by comorbidities associated with autistic spectrum disorder (ASD) in children, adolescents, and adults. The aim of this systematic review with meta-analysis (SRM) was to estimate the effects of physical exercise (PE) on the stereotyped behaviors of children with a diagnosis of ASD in intervention studies. Materials and Methods : The design followed the PRISMA guidelines and the TREND statement to assess the quality of information in each study. Nine non-randomized intervention trial studies with low, moderate, and vigorous physical exercise, with a duration varying from 8 to 48 weeks and a frequency of 3 times a week, were included in the SRM. The dependent variable episodes of stereotypical behaviors was analyzed in all studies and assessed as the number of episodes demonstrated by the child in pre- versus post-exercise intervention conditions. Results : The eight studies included a total 129 children (115 males and 14 females) with an average age of 8.93 +/- 1.69 years. Children with ASD showed a reduction of 1.1 in the number of occurrences of stereotypical behaviors after intervention with physical exercise. Conclusion : Evidence was found to support physical exercise as an effective tool in reducing the number of episodes of stereotypical behaviors in children diagnosed with ASD.

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4. Gudmundsson OO, Walters GB, Ingason A, Johansson S, Zayats T, Athanasiu L, Sonderby IE, Gustafsson O, Nawaz MS, Jonsson GF, Jonsson L, Knappskog PM, Ingvarsdottir E, Davidsdottir K, Djurovic S, Knudsen GPS, Askeland RB, Haraldsdottir GS, Baldursson G, Magnusson P, Sigurdsson E, Gudbjartsson DF, Stefansson H, Andreassen OA, Haavik J, Reichborn-Kjennerud T, Stefansson K. Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Transl Psychiatry ;2019 (Oct 17) ;9(1):258.

Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD ; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5-BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 x 10(-21)), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.

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5. Hooijer AAT, Sizoo BB. Temperament and Character as Risk Factor for Suicide Ideation and Attempts in Adults with Autism Spectrum Disorders. Autism Res ;2019 (Oct 17)

Persons with autism spectrum disorders (ASDs) are suggested to have an increased risk for suicide ideation and suicide attempts, but this topic is largely understudied. Research indicates that temperament and character traits are associated with suicidal behavior in persons without ASD, with higher scores for novelty seeking (NS), harm avoidance (HA), and self-transcedence (ST), and lower scores for self-directedness (SD) and cooperativeness (CO). Usually persons with ASD have temperament and character profiles with high HA, and low NS, reward dependence (RD), SD, and CO. The aim is to investigate whether there is a relationship between temperament and character traits and suicide ideation and attempts in adults with ASD. Seventy-four adults with ASD participated by completing self-report measures on suicide thoughts and behavior, depression, and temperament. Independent sample t-tests were conducted to compare scores between attempters versus nonattempters and between ideators versus nonideators. Regression analysis was performed to explore the predictive value of temperament and character. T-tests showed lower NS and SD, and higher HA for ideators versus nonideators, but not for attempters versus nonattempters. Regression models showed no significant relation between suicide ideation and NS, SD, HA after the latter were controlled for the significant influence of depression. Temperament and character can probably not be used for predicting suicide ideation and attempts, based on results from the current sample. Clinicians must take note of the high prevalence and risk of depression among persons with ASD, which may be under-reported. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : The aim of the current study was to uncover risk factors for suicide ideation and attempts in adults with autism, since this urgent topic is largely understudied. We initially investigated whether temperament and character could be risk factors, but found no association. However, we did find that depression might be a high predictor for suicide ideation, which could remain under-reported in adults with autism, due to impaired communication and problems with expressing emotions and thoughts.

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6. Kamp-Becker I, Stroth S, Stehr T, Weber L. [Blessing or curse ? The World Wide Web as information source for autism and Asperger Syndrome]. Z Kinder Jugendpsychiatr Psychother ;2019 (Oct 16):1-9.

Blessing or curse ? The World Wide Web as information source for autism and Asperger Syndrome Abstract. Objective : The World Wide Web is today one of the most common methods used for obtaining health-related information, though the quality of the information is sometimes questionable. The present study addresses the quality of the information source internet and the resulting implications and discusses examples related to autism spectrum disorder. Method : We systematically evaluated 96 German websites, with the aim of estimating specific characteristic features, reliability of publications, presentation of information as well as overall website quality. We also analyzed the clinical implications of the presentations. Results : Only 39 % of the websites provided references to scientifically well-founded information, whereas advertisements were found on 53 % of websites. The greatest percentage of false information (17 %) was disseminated concerning therapy. 75 % of the websites provided incomplete information. Only 10 % of websites discussed the impairment or familial burden. The quality of information was insufficient on 30 %, poor on 41 %, and good on only 6 % of the websites. Conclusions : Similar to results available for English-language websites, the quality of German websites providing health-related information can be considered low. Implications concerning confirmation bias, stigma, overidentification, in-group/outgroup, contrast and snowball effects are discussed.

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7. Lange-Kuttner C, Korte MA, Stamouli C. Parents’ Autistic Personality Traits and Sex-Biased Family Ratio Determine the Amount of Technical Toy Choice. Front Psychol ;2019 ;10:2101.

We investigated the effect of parents’ autism quotient (AQ), their sex and the sex of their children on their toy preference. In a computerized forced-choice shopping task, adults selected from cuddly and social role-playing toys (social toys), academic, music and sports toys (educational toys) and construction sets as well as cars (technical toys). A sex-balanced high and low AQ sample of 160 adults consisted of groups of parents of sons only, daughters only, sons and daughters, as well as of a group of adults without children (non-parents). The standard toy preference was social toys < educational toys < technical toys. Low AQ women were the only group to make a significantly higher amount of educational and a lower amount of technical toy choices. The mere presence of just sons increased technical toy choice in this experiment, while the mere presence of just daughters reduced technical toy choice both in men and high AQ individuals.

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8. Oron O, Getselter D, Shohat S, Reuveni E, Lukic I, Shifman S, Elliott E. Gene network analysis reveals a role for striatal glutamatergic receptors in dysregulated risk-assessment behavior of autism mouse models. Transl Psychiatry ;2019 (Oct 17) ;9(1):257.

Autism spectrum disorder (ASD) presents a wide, and often varied, behavioral phenotype. Improper assessment of risks has been reported among individuals diagnosed with ASD. Improper assessment of risks may lead to increased accidents and self-injury, also reported among individuals diagnosed with ASD. However, there is little knowledge of the molecular underpinnings of the impaired risk-assessment phenotype. In this study, we have identified impaired risk-assessment activity in multiple male ASD mouse models. By performing network-based analysis of striatal whole transcriptome data from each of these ASD models, we have identified a cluster of glutamate receptor-associated genes that correlate with the risk-assessment phenotype. Furthermore, pharmacological inhibition of striatal glutamatergic receptors was able to mimic the dysregulation in risk-assessment. Therefore, this study has identified a molecular mechanism that may underlie risk-assessment dysregulation in ASD.

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9. Price JR, Martin GE, Chen K, Jones JR. A Preliminary Study of Writing Skills in Adolescents with Autism Across Persuasive, Expository, and Narrative Genres. J Autism Dev Disord ;2019 (Oct 17)

Writing is often difficult for individuals with autism spectrum disorder (ASD), yet relatively little literature exists that profiles specific strengths and needs within this area. This preliminary investigation compares the written language skills of adolescents with ASD without intellectual disability (n = 14) to typically developing (TD) adolescents (n = 12). Writing samples from persuasive, expository, and narrative genres were elicited. Variables of sample length, writing productivity, syntax, lexical diversity, and macrostructure were analyzed. In the persuasive and expository genres, the ASD group scored significantly lower than the TD group on sample length and some aspects of macrostructure. The ASD group scored higher than the TD group on lexical diversity in the persuasive genre. Other comparisons yielded large effect sizes but were not statistically significant.

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10. Spera G, Retico A, Bosco P, Ferrari E, Palumbo L, Oliva P, Muratori F, Calderoni S. Evaluation of Altered Functional Connections in Male Children With Autism Spectrum Disorders on Multiple-Site Data Optimized With Machine Learning. Front Psychiatry ;2019 ;10:620.

No univocal and reliable brain-based biomarkers have been detected to date in Autism Spectrum Disorders (ASD). Neuroimaging studies have consistently revealed alterations in brain structure and function of individuals with ASD ; however, it remains difficult to ascertain the extent and localization of affected brain networks. In this context, the application of Machine Learning (ML) classification methods to neuroimaging data has the potential to contribute to a better distinction between subjects with ASD and typical development controls (TD). This study is focused on the analysis of resting-state fMRI data of individuals with ASD and matched TD, available within the ABIDE collection. To reduce the multiple sources of heterogeneity that impact on understanding the neural underpinnings of autistic condition, we selected a subgroup of 190 subjects (102 with ASD and 88 TD) according to the following criteria : male children (age range : 6.5-13 years) ; rs-fMRI data acquired with open eyes ; data from the University sites that provided the largest number of scans (KKI, NYU, UCLA, UM). Connectivity values were evaluated as the linear correlation between pairs of time series of brain areas ; then, a Linear kernel Support Vector Machine (L-SVM) classification, with an inter-site cross-validation scheme, was carried out. A permutation test was conducted to identify over-connectivity and under-connectivity alterations in the ASD group. The mean L-SVM classification performance, in terms of the area under the ROC curve (AUC), was 0.75 +/- 0.05. The highest performance was obtained using data from KKI, NYU and UCLA sites in training and data from UM as testing set (AUC = 0.83). Specifically, stronger functional connectivity (FC) in ASD with respect to TD involve (p < 0.001) the angular gyrus with the precuneus in the right (R) hemisphere, and the R frontal operculum cortex with the pars opercularis of the left (L) inferior frontal gyrus. Weaker connections in ASD group with respect to TD are the intra-hemispheric R temporal fusiform cortex with the R hippocampus, and the L supramarginal gyrus with L planum polare. The results indicate that both under- and over-FC occurred in a selected cohort of ASD children relative to TD controls, and that these functional alterations are spread in different brain networks.

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11. Ten Hoopen LW, de Nijs PFA, Duvekot J, Greaves-Lord K, Hillegers MHJ, Brouwer WBF, Hakkaart-van Roijen L. Children with an Autism Spectrum Disorder and Their Caregivers : Capturing Health-Related and Care-Related Quality of Life. J Autism Dev Disord ;2019 (Oct 17)

This study investigated health-related QoL (HRQoL) and care-related quality of life (CarerQol) in clinically referred children with an autism spectrum disorder (ASD), and their primary and secondary caregivers. The EuroQol five-dimensional (EQ-5D) and the CarerQol questionnaires were used to respectively measure health-related QoL and care-related QoL. Primary caregivers reported pain/discomfort (42%) and anxiety/depression (40%). In caring, they mostly experienced problems in the relationship with the child (84%), and in combining care with daily activities (51%). Children with ASD had a relevantly lower QoL. Despite negative effects, almost all caregivers (96%) derived fulfillment from caring for their affected children. HRQoL and CarerQol reports of primary caregivers and children were correlated, both providing useful information to ASD measurement and treatment.

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12. Toledo MA, Wen TH, Binder DK, Ethell IM, Razak KA. Reversal of ultrasonic vocalization deficits in a mouse model of Fragile X Syndrome with minocycline treatment or genetic reduction of MMP-9. Behav Brain Res ;2019 (Oct 17) ;372:112068.

Fragile X Syndrome (FXS) is a leading genetic cause of autism and intellectual disabilities. The Fmr1 knockout (KO) mouse is a commonly studied pre-clinical model of FXS. Adult male Fmr1 KO mice produce fewer ultrasonic vocalizations (USVs) during mating, suggestive of abnormal social communication. Minocycline treatment for 2 months from birth alleviates a number of FXS phenotypes in mice, including USV call rate deficits. In the current study, we investigated if treatment initiated past the early developmental period would be effective, given that in many cases, individuals with FXS are treated during later developmental periods. Wildtype (WT) and Fmr1 KO mice were treated with minocycline between postnatal day (P) 30 and P58. Mating-related USVs were then recorded from these mice between P75 and P90 and analyzed for call rate, duration, bandwidth, and peak frequency. Untreated Fmr1 KO mice call at a significantly reduced rate compared to untreated WT mice. After minocycline treatment from 1 to 2 months of age, WT and Fmr1 KO mice exhibited similar call rates, due to an increase in calling in the latter group. Minocycline is thought to be effective in reducing FXS symptoms by lowering matrix-metalloproteinase-9 (MMP-9) levels. To determine whether abnormal MMP-9 levels underlie USV deficits, we characterized USVs in Fmr1 KO mice which were heterozygous for MMP-9 (MMP-9(+/-)/Fmr1 KO). The MMP-9(+/-)/Fmr1 KO mice were between P75 and P90 at the time of recording. MMP-9(+/-)/Fmr1 KO mice exhibited significantly increased USV call rates, at times even exceeding WT rates. Taken together, these results suggest that minocycline may reverse USV call rate deficits in Fmr1 KO mice through attenuation of MMP-9 levels. These data suggest targeting MMP-9, even in late development, may reduce FXS symptoms.

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13. Venker CE, Pomper R, Mahr T, Edwards J, Saffran J, Ellis Weismer S. Comparing Automatic Eye Tracking and Manual Gaze Coding Methods in Young Children with Autism Spectrum Disorder. Autism Res ;2019 (Oct 17)

Eye-gaze methods offer numerous advantages for studying cognitive processes in children with autism spectrum disorder (ASD), but data loss may threaten the validity and generalizability of results. Some eye-gaze systems may be more vulnerable to data loss than others, but to our knowledge, this issue has not been empirically investigated. In the current study, we asked whether automatic eye-tracking and manual gaze coding produce different rates of data loss or different results in a group of 51 toddlers with ASD. Data from both systems were gathered (from the same children) simultaneously, during the same experimental sessions. As predicted, manual gaze coding produced significantly less data loss than automatic eye tracking, as indicated by the number of usable trials and the proportion of looks to the images per trial. In addition, automatic eye-tracking and manual gaze coding produced different patterns of results, suggesting that the eye-gaze system used to address a particular research question could alter a study’s findings and the scientific conclusions that follow. It is our hope that the information from this and future methodological studies will help researchers to select the eye-gaze measurement system that best fits their research questions and target population, as well as help consumers of autism research to interpret the findings from studies that utilize eye-gaze methods with children with ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : The current study found that automatic eye-tracking and manual gaze coding produced different rates of data loss and different overall patterns of results in young children with ASD. These findings show that the choice of eye-gaze system may impact the findings of a study-important information for both researchers and consumers of autism research.

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