Pubmed du 25/09/19

mercredi 25 septembre 2019

1. Austin C, Curtin P, Curtin A, Gennings C, Arora M, Tammimies K, Isaksson J, Willfors C, Bolte S. Dynamical properties of elemental metabolism distinguish attention deficit hyperactivity disorder from autism spectrum disorder. Transl Psychiatry ;2019 (Sep 25) ;9(1):238.

Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental conditions of overlapping etiologies and phenotypes. For ASD, we recently reported altered elemental metabolic patterns in the form of short and irregular zinc and copper cycles. Here, we extend the application of these biomarkers of prenatal and early postnatal elemental metabolism to distinguish between individuals diagnosed with ADHD and/or ASD and neurotypical controls. We recruited twins discordant for ADHD, ASD and other neurodevelopmental diagnoses from national twin studies in Sweden (N = 74) diagnosed according to DSM-5 clinical consensus and standardized psychiatric instruments. Detailed temporal profiles of exposure to 10 metals over the prenatal and early childhood periods were measured using tooth biomarkers. We used recurrence quantification analysis (RQA) to characterize properties of cyclical metabolic patterns of these metals. Regularity (determinism) and complexity (entropy) of elemental cycles was consistently reduced in ADHD for cobalt, lead, and vanadium (determinism : cobalt, beta = -0.03, P = 0.017 ; lead, beta = -0.03, P = 0.016 ; and vanadium, beta = -0.03, P = 0.01. Entropy : cobalt, beta = -0.13, P = 0.017 ; lead, beta = -0.18, P = 0.016 ; and vanadium, beta = -0.15, P = 0.008). Further, we found elemental pathways and dynamical features specific to ADHD vs ASD, and unique characteristics associated with ADHD/ASD combined presentation. Dysregulation of cyclical processes in elemental metabolism during prenatal and early postnatal development not only encompasses pathways shared by ADHD and ASD, but also comprise features specific to either condition.

Lien vers le texte intégral (Open Access ou abonnement)

2. Bricout VA, Pace M, Dumortier L, Miganeh S, Mahistre Y, Guinot M. Motor Capacities in Boys with High Functioning Autism : Which Evaluations to Choose ?. J Clin Med ;2019 (Sep 21) ;8(10)

The difficulties with motor skills in children with autism spectrum disorders (ASD) has become a major focus of interest. Our objectives were to provide an overall profile of motor capacities in children with ASD compared to neurotypically developed children through specific tests, and to identify which motor tests best discriminate children with or without ASD. Twenty-two male children with ASD (ASD-10.7 +/- 1.3 years) and twenty controls (CONT-10.0 +/- 1.6 years) completed an evaluation with 42 motor tests from European Physical Fitness Test Battery (EUROFIT), the Physical and Neurological Exam for Subtle Signs (PANESS) and the Movement Assessment Battery for Children ( M-ABC). However, it was challenging to design a single global classifier to integrate all these features for effective classification due to the issue of small sample size. To this end, we proposed a hierarchical ensemble classification method to combine multilevel classifiers by gradually integrating a large number of features from different motor assessments. In the ASD group, flexibility, explosive power and strength scores (p < 0.01) were significantly lower compared to the control group. Our results also showed significant difficulties in children with ASD for dexterity and ball skills (p < 0.001). The principal component analysis and agglomerative hierarchical cluster analysis allowed for the classification of children based on motor tests, correctly distinguishing clusters between children with and without motor impairments.

Lien vers le texte intégral (Open Access ou abonnement)

3. Crespi BJ. Comparative psychopharmacology of autism and psychotic-affective disorders suggests new targets for treatment. Evol Med Public Health ;2019 ;2019(1):149-168.

The first treatments showing effectiveness for some psychiatric disorders, such as lithium for bipolar disorder and chlorpromazine for schizophrenia, were discovered by accident. Currently, psychiatric drug design is seen as a scientific enterprise, limited though it remains by the complexity of brain development and function. Relatively few novel and effective drugs have, however, been developed for many years. The purpose of this article is to demonstrate how evolutionary biology can provide a useful framework for psychiatric drug development. The framework is based on a diametrical nature of autism, compared with psychotic-affective disorders (mainly schizophrenia, bipolar disorder and depression). This paradigm follows from two inferences : (i) risks and phenotypes of human psychiatric disorders derive from phenotypes that have evolved along the human lineage and (ii) biological variation is bidirectional (e.g. higher vs lower, faster vs slower, etc.), such that dysregulation of psychological traits varies in two opposite ways. In this context, the author review the evidence salient to the hypothesis that autism and psychotic-affective disorders represent diametrical disorders in terms of current, proposed and potential psychopharmacological treatments. Studies of brain-derived neurotrophic factor, the PI3K pathway, the NMDA receptor, kynurenic acid metabolism, agmatine metabolism, levels of the endocannabinoid anandamide, antidepressants, anticonvulsants, antipsychotics, and other treatments, demonstrate evidence of diametric effects in autism spectrum disorders and phenotypes compared with psychotic-affective disorders and phenotypes. These findings yield insights into treatment mechanisms and the development of new pharmacological therapies, as well as providing an explanation for the longstanding puzzle of antagonism between epilepsy and psychosis. Lay Summary : Consideration of autism and schizophrenia as caused by opposite alterations to brain development and function leads to novel suggestions for pharmacological treatments.

Lien vers le texte intégral (Open Access ou abonnement)

4. Crowley JJ, Szatkiewicz J, Kahler AK, Giusti-Rodriguez P, Ancalade N, Booker JK, Carr JL, Giamberardino SN, Crawford GE, Losh M, Stockmeier CA, Taylor AK, Piven J, Sullivan PF. Correction : Common-variant associations with fragile X syndrome. Mol Psychiatry ;2019 (Sep 23)

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Lien vers le texte intégral (Open Access ou abonnement)

5. Fazzi E, Micheletti S, Galli J, Rossi A, Gitti F, Molinaro A. Autism in Children With Cerebral and Peripheral Visual Impairment : Fact or Artifact ?. Semin Pediatr Neurol ;2019 (Oct) ;31:57-67.

The aim of this study was to evaluate the occurrence and clinical characteristics of autism spectrum disorder in visually impaired children. In total, 273 participants, 214 with cerebral causes of vision impairment and 59 with peripheral causes, were assessed using multiple assessment methods and adapted for individuals with vision loss. We found that autism spectrum disorder was more prevalent in the visually impaired compared to general population, and that the prevalence varied according to the type of visual disorder (2.8% for cerebral and 8.4% for peripheral visual impairment). In subjects with cerebral visual impairment, the presence of autistic symptoms was consistent with the diagnosis of autism spectrum disorder. In children with peripheral visual impairment, certain symptoms related to visual loss overlapped with the clinical features of autism spectrum disorder, thus making clinical diagnosis more challenging. The development of assessment tools that take into account the type and level of visual impairment and validation testing in a larger population sample are needed in order to confirm these initial findings regarding the diagnosis of autism spectrum disorder in visually impaired children.

Lien vers le texte intégral (Open Access ou abonnement)

6. Gayathri KS, Tiwari S. Authors’ responses to the comments on "Adaptation and Validation of Parental Behavioral Scale for Children with Autism Spectrum Disorders to Kannada". Indian J Psychol Med ;2019 (Sep-Oct) ;41(5):499-500.

Lien vers le texte intégral (Open Access ou abonnement)

7. Hooyman A, Kayekjian D, Xiao R, Jiang C, Vanderbilt DL, Smith BA. Relationships between variance in electroencephalography relative power and developmental status in infants with typical development and at risk for developmental disability : An observational study. Gates Open Res ;2018 ;2:47.

Background : Electroencephalography (EEG) is a non-invasive tool that has the potential to identify and quantify atypical brain development. We introduce a new measure here, variance of relative power of resting-state EEG. We sought to assess whether variance of relative power of resting-state EEG could predict i) classification of infants as typical development (TD) or at risk (AR) for developmental disability, and ii) Bayley developmental scores at the same visit or future visits. Methods : A total of 22 infants with TD participated, aged between 38 and 203 days. In addition, 11 infants broadly at risk participated (6 high-risk pre-term, 4 low-risk pre-term, 1 high-risk full-term), aged between 40 and 225 days of age (adjusted for prematurity). We used EEG to measure resting-state brain function across months. We calculated variance of relative power as the standard deviation of the relative power across each of the 32 EEG electrodes. The Bayley Scales of Infant Development (3 (rd) edition) was used to measure developmental level. Infants were measured 1-6 times each, with 1 month between measurements. Results : Our main findings were : i) variance of relative power of resting state EEG can predict classification of infants as TD or AR, and ii) variance of relative power of resting state EEG can predict Bayley developmental scores at the same visit (Bayley raw fine motor, Bayley raw cognitive, Bayley total raw score, Bayley motor composite score) and at a future visit (Bayley raw fine motor). Conclusions : This was a preliminary, exploratory, small study. Our results support variance of relative power of resting state EEG as an area of interest for future study as a biomarker of neurodevelopmental status and as a potential outcome measure for early intervention.

Lien vers le texte intégral (Open Access ou abonnement)

8. Kojovic N, Ben Hadid L, Franchini M, Schaer M. Sensory Processing Issues and Their Association with Social Difficulties in Children with Autism Spectrum Disorders. J Clin Med ;2019 (Sep 20) ;8(10)

Sensory processing issues have been frequently reported in individuals with Autism Spectrum Disorders (ASD), but their relationship with social and overall adaptive functioning has not been extensively characterized to date. Here, we investigate how sensory processing atypicalities relate with deficits in social skills, impaired social cognition, and general adaptive functioning in a group of preschoolers with ASD. Sixty-four children with ASD aged 3 to 6 were included in this study, along with 36 age-matched typically-developing (TD) peers. Parent-reported measures of sensory processing, social difficulties and overall adaptive functioning were collected for all children. We also obtained precise measures of social attention deployment using a custom-design eye-tracking task depicting naturalistic social scenes. Within the group of children with ASD, higher intensities of sensory issues were associated with more prominent social difficulties and lower adaptive functioning. We also found that children with ASD who had more sensory issues showed visual exploration patterns of social scenes that strongly deviated from the one seen in the TD group. The association of sensory processing atypicalities with "higher-order" functional domains such as social and adaptive functioning in children with ASD stresses the importance of further research on sensory symptoms in autism.

Lien vers le texte intégral (Open Access ou abonnement)

9. Lee SH, Maenner MJ, Heilig CM. A comparison of machine learning algorithms for the surveillance of autism spectrum disorder. PLoS One ;2019 ;14(9):e0222907.

OBJECTIVE : The Centers for Disease Control and Prevention (CDC) coordinates a labor-intensive process to measure the prevalence of autism spectrum disorder (ASD) among children in the United States. Random forests methods have shown promise in speeding up this process, but they lag behind human classification accuracy by about 5%. We explore whether more recently available document classification algorithms can close this gap. MATERIALS AND METHODS : Using data gathered from a single surveillance site, we applied 8 supervised learning algorithms to predict whether children meet the case definition for ASD based solely on the words in their evaluations. We compared the algorithms’ performance across 10 random train-test splits of the data, using classification accuracy, F1 score, and number of positive calls to evaluate their potential use for surveillance. RESULTS : Across the 10 train-test cycles, the random forest and support vector machine with Naive Bayes features (NB-SVM) each achieved slightly more than 87% mean accuracy. The NB-SVM produced significantly more false negatives than false positives (P = 0.027), but the random forest did not, making its prevalence estimates very close to the true prevalence in the data. The best-performing neural network performed similarly to the random forest on both measures. DISCUSSION : The random forest performed as well as more recently available models like the NB-SVM and the neural network, and it also produced good prevalence estimates. NB-SVM may not be a good candidate for use in a fully-automated surveillance workflow due to increased false negatives. More sophisticated algorithms, like hierarchical convolutional neural networks, may not be feasible to train due to characteristics of the data. Current algorithms might perform better if the data are abstracted and processed differently and if they take into account information about the children in addition to their evaluations. CONCLUSION : Deep learning models performed similarly to traditional machine learning methods at predicting the clinician-assigned case status for CDC’s autism surveillance system. While deep learning methods had limited benefit in this task, they may have applications in other surveillance systems.

Lien vers le texte intégral (Open Access ou abonnement)

10. Li B, Bos MG, Stockmann L, Rieffe C. Emotional functioning and the development of internalizing and externalizing problems in young boys with and without autism spectrum disorder. Autism ;2019 (Sep 24):1362361319874644.

Children with autism spectrum disorder are at risk of developing internalizing and externalizing problems. However, information on early development of behavior problems and the contributing role of emotional functioning in preschool children with autism spectrum disorder is scarce. This study collected data of boys with and without autism spectrum disorder (N = 156 ; age : 2-6 years) over three consecutive years (three waves), about their internalizing and externalizing symptoms and emotional functioning (i.e. emotion control, recognition, and vocabulary), using parent-report questionnaires. No age effect was found on internalizing or externalizing problems for boys with and without autism spectrum disorder. Boys with autism spectrum disorder displayed more behavior problems than their typically developing peers and showed lower levels of emotional functioning. Better emotion control and improved emotion recognition were associated with a decrease in problem behaviors for boys with and without autism spectrum disorder, whereas improved emotion vocabulary was uniquely related to a decrease in externalizing problems in boys with autism spectrum disorder. Our findings suggest that boys with and without autism spectrum disorder showed similar developmental courses of internalizing and externalizing problems. However, lower levels of emotional functioning were already more pronounced in boys with autism spectrum disorder at a young age. This contributes to higher levels of behavior problems.

Lien vers le texte intégral (Open Access ou abonnement)

11. Mahfouda S, Panos C, Whitehouse AJO, Thomas CS, Maybery M, Strauss P, Zepf FD, O’Donovan A, van Hall HW, Saunders LA, Moore JK, Lin A. Mental Health Correlates of Autism Spectrum Disorder in Gender Diverse Young People : Evidence from a Specialised Child and Adolescent Gender Clinic in Australia. J Clin Med ;2019 (Sep 20) ;8(10)

Research suggests an overrepresentation of autism spectrum diagnoses (ASD) or autistic traits in gender diverse samples, particularly in children and adolescents. Using data from the GENTLE (GENder identiTy Longitudinal Experience) Cohort at the Gender Diversity Service at the Perth Children’s Hospital, the primary objective of the current retrospective chart review was to explore psychopathology and quality of life in gender diverse children with co-occurring ASD relative to gender diverse children and adolescents without ASD. The Social Responsiveness Scale (Second Edition) generates a Diagnostic and Statistical Manual of Mental Disorders (DSM-5) score indicating a likely clinical ASD diagnosis, which was used to partition participants into two groups (indicated ASD, n = 19) (no ASD indicated, n = 60). Indicated ASD was far higher than would be expected compared to general population estimates. Indicated ASD on the Social Responsiveness Scale 2 (SRS 2) was also a significant predictor of Internalising behaviours (Anxious/Depressed, Withdrawn/Depressed, Somatic Complaints, Thought Problems subscales) on the Youth Self Report. Indicated ASD was also a significant predictor of scores on all subscales of the Paediatric Quality of Life Inventory. The current findings indicate that gender diverse children and adolescents with indicated ASD comprise an especially vulnerable group that are at marked risk of mental health difficulties, particularly internalising disorders, and poor quality of life outcomes. Services working with gender diverse young people should screen for ASD, and also provide pathways to appropriate care for the commonly associated mental health difficulties.

Lien vers le texte intégral (Open Access ou abonnement)

12. Mandy W. Social camouflaging in autism : Is it time to lose the mask ?. Autism ;2019 (Sep 25):1362361319878559.

Lien vers le texte intégral (Open Access ou abonnement)

13. Mawson AR, Croft AM. Rubella Virus Infection, the Congenital Rubella Syndrome, and the Link to Autism. Int J Environ Res Public Health ;2019 (Sep 22) ;16(19)

Rubella is a systemic virus infection that is usually mild. It can, however, cause severe birth defects known as the congenital rubella syndrome (CRS) when infection occurs early in pregnancy. As many as 8%-13% of children with CRS developed autism during the rubella epidemic of the 1960s compared to the background rate of about 1 new case per 5000 children. Rubella infection and CRS are now rare in the U.S. and in Europe due to widespread vaccination. However, autism rates have risen dramatically in recent decades to about 3% of children today, with many cases appearing after a period of normal development (’regressive autism’). Evidence is reviewed here suggesting that the signs and symptoms of rubella may be due to alterations in the hepatic metabolism of vitamin A (retinoids), precipitated by the acute phase of the infection. The infection causes mild liver dysfunction and the spillage of stored vitamin A compounds into the circulation, resulting in an endogenous form of hypervitaminosis A. Given that vitamin A is a known teratogen, it is suggested that rubella infection occurring in the early weeks of pregnancy causes CRS through maternal liver dysfunction and exposure of the developing fetus to excessive vitamin A. On this view, the multiple manifestations of CRS and associated autism represent endogenous forms of hypervitaminosis A. It is further proposed that regressive autism results primarily from post-natal influences of a liver-damaging nature and exposure to excess vitamin A, inducing CRS-like features as a function of vitamin A toxicity, but without the associated dysmorphogenesis. A number of environmental factors are discussed that may plausibly be candidates for this role, and suggestions are offered for testing the model. The model also suggests a number of measures that may be effective both in reducing the risk of fetal CRS in women who acquire rubella in their first trimester and in reversing or minimizing regressive autism among children in whom the diagnosis is suspected or confirmed.

Lien vers le texte intégral (Open Access ou abonnement)

14. Melo C, Ruano L, Jorge J, Pinto Ribeiro T, Oliveira G, Azevedo L, Temudo T. Prevalence and determinants of motor stereotypies in autism spectrum disorder : A systematic review and meta-analysis. Autism ;2019 (Sep 25):1362361319869118.

Stereotypies are frequently reported in people with autism spectrum disorder (ASD) but remain one of the less explained phenomena. We aimed to describe, through a systematic review and a meta-analysis, the prevalence of motor stereotypies in ASD and study the factors that influence this prevalence. Our literature search included MEDLINE, Scopus, and PsycINFO databases. Quality and risk of bias were assessed. Thirty-seven studies were included and the median prevalence of motor stereotypies in ASD was 51.8%, ranging from 21.9% to 97.5%. The most frequent determinants associated with a higher number of stereotypies in ASD were a younger age, lower intelligence quotient, and a greater severity of ASD. Moreover, gender did not seem to influence the prevalence of stereotypies. Meta-analytic analysis showed that lower IQ and autism diagnosis (independent of IQ) are associated with a higher prevalence of motor stereotypies (odds ratio = 2.5 and 4.7, respectively). Limitations of the reviewed literature include the use of convenience samples, with small sizes and heterogeneous inclusion criteria, and the predominance of high-functioning autism individuals.

Lien vers le texte intégral (Open Access ou abonnement)

15. Merbler AM, Byiers BJ, Hoch J, Dimian AC, Barney CC, Feyma TJ, Beisang AA, Bartolomucci A, Symons FJ. Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to Tactile Stimuli in Rett Syndrome. J Child Neurol ;2019 (Sep 25):883073819875915.

Patients with Rett syndrome may manifest altered pain perception/experience and are vulnerable to conditions associated with chronic pain. Pain response is difficult to measure, however, because of severe communicative impairment. There is also documented autonomic dysfunction, including decreased heart rate variability. Given the relation between pain and the autonomic nervous system, we tested the feasibility of using resting heart rate variability to predict nonverbal pain/discomfort behavior during a standardized modified quantitative sensory test in Rett syndrome. All stimulus applications resulted in increased behavioral reactivity compared to baseline, with repeated von Frey significantly greater than all other stimuli. Resting heart rate variability predicted behavioral reactivity to repeated von Frey. These preliminary findings provide feasibility evidence for an integrated autonomic-sensory measurement approach and are consistent at a construct level with preclinical evidence in Rett syndrome. Further work is needed to determine how heart rate variability changes during stimulus application.

Lien vers le texte intégral (Open Access ou abonnement)

16. Mirza R, Sharma B. A selective peroxisome proliferator-activated receptor-gamma agonist benefited propionic acid induced autism-like behavioral phenotypes in rats by attenuation of neuroinflammation and oxidative stress. Chem Biol Interact ;2019 (Sep 25) ;311:108758.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder in children. It is diagnosed by two main behavioral phenotypes i.e. social-communication impairments and repetitive behavior. ASD is complex disorder with unsolved etiology due to multiple genes involvement, epigenetic mechanism and environmental factors. The clinical and preclinical studies have been indicating the association of propionic acid with autism spectrum disorder. Numerous studies suggest the potential therapeutic effects of peroxisome proliferator-activated receptor-gamma (PPAR-gamma) in different brain disorders. This research evaluates the utility of selective agonist of PPAR-gamma, pioglitazone in postnatal propionic acid induced ASD related symptomatology in male Wistar rats. PPA (250mg/kg, p.o.) was administered to male offspring for three consecutive days from postnatal 21st day to 23rd day. PPA induced social impairment, repetitive behavior, hyperlocomotion, anxiety and low exploratory activity in rats. Also, postnatal propionic acid-treated rats showed higher levels of oxidative stress (increased in thiobarbituric acid reactive species and decreased in reduced glutathione) as well as inflammation (increased in interleukin-6, tumor necrosis factor-alpha and decreased in interleukin-10) in the cerebellum, brainstem and prefrontal cortex. The rats were treated daily with pioglitazone (10mg/kg and 20mg/kg, p.o.) from postnatal 24th day to end of the study. Treatment with pioglitazone, significantly attenuated the postnatal propionic acid-induced social impairment, repetitive behavior, hyperactivity, anxiety and low exploratory activity. Furthermore, pioglitazone also reduced the postnatal propionic acid-induced oxidative stress and neuroinflammation in aforementioned brain regions. Hence, pioglitazone improved the propionic acid-induced neurobehavioral and biochemical impairments in rats.

Lien vers le texte intégral (Open Access ou abonnement)

17. Rosenblau G, O’Connell G, Heekeren HR, Dziobek I. Neurobiological mechanisms of social cognition treatment in high-functioning adults with autism spectrum disorder. Psychol Med ;2019 (Sep 25):1-11.

BACKGROUND : The promise of precision medicine for autism spectrum disorder (ASD) hinges on developing neuroscience-informed individualized interventions. Taking an important step in this direction, we investigated neuroplasticity in response to an ecologically-valid, computer-based social-cognitive training (SCOTT). METHODS : In an active control group design, 48 adults with ASD were randomly assigned to a 3-month SCOTT or non-social computer training. Participants completed behavioral tasks, a functional and structural magnetic resonance imaging session before and after the training period. RESULTS : The SCOTT group showed social-cognitive improvements on close and distant generalization tasks. The improvements scaled with reductions in functional activity and increases in cortical thickness in prefrontal regions. CONCLUSION : In sum, we provide evidence for the sensitivity of neuroscientific methods to reflect training-induced social-cognitive improvements in adults with ASD. These results encourage the use of neuroimaging data to describe and quantify treatment-related changes more broadly.

Lien vers le texte intégral (Open Access ou abonnement)

18. Sceniak MP, Fedder KN, Wang Q, Droubi S, Babcock K, Patwardhan S, Wright-Zornes J, Pham L, Sabo SL. A GluN2B mutation identified in Autism prevents NMDA receptor trafficking and interferes with dendrite growth. J Cell Sci ;2019 (Sep 23)

Autism spectrum disorders (ASD) are neurodevelopmental disorders with multiple genetic associations. Analysis of de novo mutations identified GRIN2B, which encodes the GluN2B subunit of NMDA receptors, as a high-probability ASD gene. However, the mechanisms by which GRIN2B mutations contribute to ASD pathophysiology are not understood. Here, we investigated the cellular phenotypes induced by a human mutation that is predicted to truncate GluN2B within the extracellular loop. This mutation abolished NMDA-dependent calcium influx. Mutant GluN2B co-assembled with GluN1 but was not trafficked to the cell surface or dendrites. When mutant GluN2B was expressed in developing cortical neurons, dendrites appeared underdeveloped, with shorter and fewer branches, while spine density was unaffected. Mutant dendritic arbors were often dysmorphic, displaying abnormal filopodial-like structures. Interestingly, dendrite maldevelopment appeared when mutant GluN2B was expressed on a wild-type background, reflecting the disease as individuals are heterozygous for GRIN2B mutations. Restoring the fourth transmembrane domain and cytoplasmic tail did not rescue the phenotypes. Finally, abnormal development was not accompanied by reduced mTOR signaling. These data suggest that mutations in GRIN2B/GluN2B contribute to ASD pathogenesis by disrupting dendrite development.

Lien vers le texte intégral (Open Access ou abonnement)

19. Shnier D, Voineagu MA, Voineagu I. Persistent homology analysis of brain transcriptome data in autism. J R Soc Interface ;2019 (Sep 27) ;16(158):20190531.

Persistent homology methods have found applications in the analysis of multiple types of biological data, particularly imaging data or data with a spatial and/or temporal component. However, few studies have assessed the use of persistent homology for the analysis of gene expression data. Here we apply persistent homology methods to investigate the global properties of gene expression in post-mortem brain tissue (cerebral cortex) of individuals with autism spectrum disorders (ASD) and matched controls. We observe a significant difference in the geometry of inter-sample relationships between autism and healthy controls as measured by the sum of the death times of zero-dimensional components and the Euler characteristic. This observation is replicated across two distinct datasets, and we interpret it as evidence for an increased heterogeneity of gene expression in autism. We also assessed the topology of gene-level point clouds and did not observe significant differences between ASD and control transcriptomes, suggesting that the overall transcriptome organization is similar in ASD and healthy cerebral cortex. Overall, our study provides a novel framework for persistent homology analyses of gene expression data for genetically complex disorders.

Lien vers le texte intégral (Open Access ou abonnement)

20. Singh GP, Tekkalaki B, Andrade C. Comments on "Adaptation and Validation of Parental Behavioral Scale for Children with Autism Spectrum Disorders to Kannada". Indian J Psychol Med ;2019 (Sep-Oct) ;41(5):498-499.

Lien vers le texte intégral (Open Access ou abonnement)

21. Thabtah F, Peebles D. Early Autism Screening : A Comprehensive Review. Int J Environ Res Public Health ;2019 (Sep 19) ;16(18)

Autistic spectrum disorder (ASD) refers to a neurodevelopmental condition associated with verbal and nonverbal communication, social interactions, and behavioural complications that is becoming increasingly common in many parts of the globe. Identifying individuals on the spectrum has remained a lengthy process for the past few decades due to the fact that some individuals diagnosed with ASD exhibit exceptional skills in areas such as mathematics, arts, and music among others. To improve the accuracy and reliability of autism diagnoses, many scholars have developed pre-diagnosis screening methods to help identify autistic behaviours at an early stage, speed up the clinical diagnosis referral process, and improve the understanding of ASD for the different stakeholders involved, such as parents, caregivers, teachers, and family members. However, the functionality and reliability of those screening tools vary according to different research studies and some have remained questionable. This study evaluates and critically analyses 37 different ASD screening tools in order to identify possible areas that need to be addressed through further development and innovation. More importantly, different criteria associated with existing screening tools, such as accessibility, the fulfilment of Diagnostic and Statistical Manual of Mental Disorders (DSM-5) specifications, comprehensibility among the target audience, performance (specifically sensitivity, specificity, and accuracy), web and mobile availability, and popularity have been investigated.

Lien vers le texte intégral (Open Access ou abonnement)

22. Valeri G, Casula L, Menghini D, Amendola FA, Napoli E, Pasqualetti P, Vicari S. Cooperative parent-mediated therapy for Italian preschool children with autism spectrum disorder : a randomized controlled trial. Eur Child Adolesc Psychiatry ;2019 (Sep 23)

Parent-mediated intervention is widely used for pre-schoolers with autism spectrum disorder (ASD). Previous studies indicate small-to-moderate effects on social communication skills, but with a wide heterogeneity that requires further research. In this randomized controlled trial (RCT), cooperative parent-mediated therapy (CPMT) an individual parent coaching program for young children with ASD was administered to preschool children with ASD. All children received the same low-intensity psychosocial intervention (LPI) delivered in community settings, to evaluate the potential additional benefit of CPMT. Thirty-four participants with ASD (7 females ; 27 males ; aged 2, 6, 11 years) and their parents were included in the trial. The primary blinded outcome was social communication skills, assessed using the ADOS-G social communication algorithm score (ADOS-G SC). Secondary outcomes included ASD symptom severity, parent-rated language abilities and emotional/behavioral problems, and self-reported caregiver stress. Evaluations were made at baseline and post-treatment (at 6 months) by an independent multidisciplinary team. Results documented that CPMT showed an additional benefit on LPI with significant improvements of the primary blinded outcome, socio-communication skills, and of some secondary outcomes such as ASD symptom severity, emotional problems and parental stress related to parent-child dysfunctional interaction. No additional benefit was found for language abilities. Findings of our RCT show that CPMT provide an additional significant short-term treatment benefit on ASD core symptoms, when compared with active control group receiving only LPI.

Lien vers le texte intégral (Open Access ou abonnement)

23. Wang M, Hossain F, Sulaiman R, Ren X. Exposure to Inorganic Arsenic and Lead and Autism Spectrum Disorder in Children : A Systematic Review and Meta-Analysis. Chem Res Toxicol ;2019 (Sep 24)

Inorganic arsenic (iAs) and lead (Pb) rank first and second on the U.S. Environmental Protection Agency’s priority list of hazardous substances. Both are known neurotoxic metals that cause detrimental effects on brain development and lead to deficits in cognitive function and behavioral performance in children. Studies have indicated a potential link between iAs and Pb exposure and a higher risk for autism spectrum disorders (ASD). To provide further insight into whether developmental exposure to iAs or Pb is associated with ASD, we conducted a systematic review and combined data into a meta-analysis to evaluate the available human evidence on the relationships. We systematically reviewed relevant studies published through December 30, 2018, and identified 14 studies on iAs and 37 studies on Pb exposure and their respective associations with ASD. Among them, 8 (53.3%) and 19 (51.3%) studies reported a positive association for iAs and Pb, respectively, and, none reported a sole inverse association. In the following meta-analysis, we found statistically significant higher iAs concentrations, in hair and in blood, for children diagnosed with ASD compared with controls across studies. However, the findings on Pb exposure were inconsistent, with a significant association for hair Pb, no association for urinary Pb, and an inverse association for blood Pb. After considering strengths and limitations of the body of research, we concluded that there is consistent evidence supporting a positive association between early-life iAs exposure and diagnosis of ASD and inconsistent evidence for Pb exposure and ASD risk. We believe it is in the best interest of policy makers and the public to reduce exposures to iAs and Pb among pregnant women and children. Further, our research supports the need for large perspective human studies with accurately measuring and determining long-term body burden of iAs and Pb exposures to assess the impact of iAs and Pb exposures on ASD risk.

Lien vers le texte intégral (Open Access ou abonnement)


Accès direct au catalogue en ligne !

Vous pouvez accéder directement au catalogue en ligne du centre de documentation du CRA Rhône-Alpes en cliquant sur l’image ci-dessous :

Cliquez pour consulter le catalogue

Formations pour les Familles et les Proches

le détail des programmes de formation à l’attention des familles et des proches de personnes avec TSA est disponible en cliquant sur l’image ci-dessous.

Formation pour les Aidants Familiaux {JPEG}

Sensibilisation à l’usage des tablettes au CRA !

Toutes les informations concernant les sensibilisations du CRA aux tablettes numériques en cliquant sur l’image ci-dessous :

1-Formation à l’état des connaissances de l’autisme

Plus d’information sur la formation gratuite que dispense le CRA en cliquant sur l’image ci-dessous :

Formation à l'état des connaissances de l'autisme {JPEG}

4-Accéder au Livret Autisme Auvergne Rhône-Alpes (LAARA)

Prenez connaissance du Livret Autisme Auvergne Rhône-Alpes, projet de répertoire régional des structures médico-sociales. En cliquant sur l’image ci-dessous :

Cliquer pour accéder au LAARA