Pubmed du 19/10/19

samedi 19 octobre 2019

1. Barkoski JM, Busgang SA, Bixby M, Bennett D, Schmidt RJ, Barr DB, Panuwet P, Gennings C, Hertz-Picciotto I. Prenatal phenol and paraben exposures in relation to child neurodevelopment including autism spectrum disorders in the MARBLES study. Environ Res ;2019 (Sep 4) ;179(Pt A):108719.

BACKGROUND : Environmental phenols and parabens are endocrine disrupting chemicals (EDCs) with the potential to affect child neurodevelopment including autism spectrum disorders (ASD). Our aim was to assess whether exposure to environmental phenols and parabens during pregnancy was associated with an increased risk of clinical ASD or other nontypical development (non-TD). METHODS : This study included mother-child pairs (N=207) from the Markers of Autism Risks in Babies - Learning Early Signs (MARBLES) Cohort Study with urinary phenol and paraben metabolites analyzed using liquid chromatography-tandem mass spectrometry (LC-MS/MS) from repeated pregnancy urine samples. Because family recurrence risks in siblings are about 20%, MARBLES enrolls pregnant women who already had a child with ASD. Children were clinically assessed at 3 years of age and classified into 3 outcome categories : ASD, non-TD, or typically developing (TD). Single analyte analyses were conducted with trinomial logistic regression and weighted quantile sum (WQS) regression was used to test for mixture effects. RESULTS : Regression models were adjusted for pre-pregnancy body mass index, prenatal vitamin use (yes/no), homeowner status (yes/no), birth year, and child’s sex. In single chemical analyses phenol exposures were not significantly associated with child’s diagnosis. Mixture analyses using trinomial WQS regression showed a significantly increased risk of non-TD compared to TD (OR=1.58, 95% CI : 1.04, 2.04) with overall greater prenatal phenol and paraben metabolites mixture. Results for ASD also showed an increased risk, but it was not significant. DISCUSSION : This is the first study to provide evidence that pregnancy environmental phenol exposures may increase the risk for non-TD in a high-risk population.

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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. Bottema-Beutel K, Cuda J, Kim SY, Crowley S, Scanlon D. High School Experiences and Support Recommendations of Autistic Youth. J Autism Dev Disord ;2019 (Oct 19)

We used an online survey to gather perspectives of autistic youth (n = 248) on the impacts of autism, school professionals, family members, and peers on their high school experiences ; what each stakeholder group could have done better ; and what future high school professionals and autistic youth should know. Two-thirds of participants viewed autism as negatively impacting their school experience, and this was more prevalent in women. The majority viewed impacts of school professionals, family, and peers as positive. Women were more likely to view school professional contributions as positive than men, and LGBT youth were more likely to view school professional and peer contributions as negative than non-LGBT youth. Suggestions for stakeholders included providing more help, care, and quality time.

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4. Doll CA, Yergert KM, Appel BH. The RNA binding protein fragile X mental retardation protein promotes myelin sheath growth. Glia ;2019 (Oct 18)

During development, oligodendrocytes in the central nervous system extend a multitude of processes that wrap axons with myelin. The highly polarized oligodendrocytes generate myelin sheaths on many different axons, which are far removed from the cell body. Neurons use RNA binding proteins to transport, stabilize, and locally translate mRNA in distal domains of neurons. Local synthesis of synaptic proteins during neurodevelopment facilitates the rapid structural and functional changes underlying neural plasticity and avoids extensive protein transport. We hypothesize that RNA binding proteins also regulate local mRNA regulation in oligodendrocytes to promote myelin sheath growth. Fragile X mental retardation protein (FMRP), an RNA binding protein that plays essential roles in the growth and maturation of neurons, is also expressed in oligodendrocytes. To determine whether oligodendrocytes require FMRP for myelin sheath development, we examined fmr1(-/-) mutant zebrafish and drove FMR1 expression specifically in oligodendrocytes. We found oligodendrocytes in fmr1(-/-) mutants developed myelin sheaths of diminished length, a phenotype that can be autonomously rescued in oligodendrocytes with FMR1 expression. Myelin basic protein (Mbp), an essential myelin protein, was reduced in myelin tracts of fmr1(-/-) mutants, but loss of FMRP function did not impact the localization of mbpa transcript in myelin. Finally, expression of FMR1-I304N, a missense allele that abrogates FMRP association with ribosomes, failed to rescue fmr1(-/-) mutant sheath growth and induced short myelin sheaths in oligodendrocytes of wild-type larvae. Taken together, these data suggest that FMRP promotes sheath growth through local regulation of translation.

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5. 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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6. Hollingdale J, Woodhouse E, Young S, Fridman A, Mandy W. Autistic Spectrum Disorder symptoms in children and adolescents with Attention-deficit/hyperactivity disorder : a meta-analytical review - Corrigendum. Psychol Med ;2019 (Oct 18):1.

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7. Hong M, Lee SM, Park S, Yoon SJ, Kim YE, Oh IH. Prevalence and Economic Burden of Autism Spectrum Disorder in South Korea Using National Health Insurance Data from 2008 to 2015. J Autism Dev Disord ;2019 (Oct 19)

The prevalence of autism spectrum disorder (ASD) is increasing worldwide. We investigated the economic burden of ASD in South Korea using a nationally representative data source. The direct medical and non-medical costs, and indirect costs resulting from ASD were estimated. The total prevalence was 5.04 (per 100,000) in 2008, and 10.97 in 2015. The economic cost of ASD was estimated to be $2,700,596 in 2008 and $9,645,503 in 2015. Of the total economic cost in 2015, 72.3% was from direct costs and 27.7% from indirect costs, and 87.5% related to male patients and 12.5% to female patients. The results suggest that the increase in economic costs was greater than the increase in prevalence.

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8. Karaminis T, Arrighi R, Forth G, Burr D, Pellicano E. Adaptation to the Speed of Biological Motion in Autism. J Autism Dev Disord ;2019 (Oct 19)

Autistic individuals often present atypicalities in adaptation-the continuous recalibration of perceptual systems driven by recent sensory experiences. Here, we examined such atypicalities in human biological motion. We used a dual-task paradigm, including a running-speed discrimination task (’comparing the speed of two running silhouettes’) and a change-detection task (’detecting fixation-point shrinkages’) assessing attention. We tested 19 school-age autistic and 19 age- and ability-matched typical participants, also recording eye-movements. The two groups presented comparable speed-discrimination abilities and, unexpectedly, comparable adaptation. Accuracy in the change-detection task and the scatter of eye-fixations around the fixation point were also similar across groups. Yet, the scatter of fixations reliably predicted the magnitude of adaptation, demonstrating the importance of controlling for attention in adaptation studies.

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9. Licari MK, Alvares GA, Varcin K, Evans KL, Cleary D, Reid SL, Glasson EJ, Bebbington K, Reynolds JE, Wray J, Whitehouse AJO. Prevalence of Motor Difficulties in Autism Spectrum Disorder : Analysis of a Population-Based Cohort. Autism Res ;2019 (Oct 18)

Motor impairment is not currently included in the diagnostic criteria or evaluation of autism. This reflects the lack of large-scale studies demonstrating its prominence to advocate for change. We examined the prevalence of motor difficulties at the time of diagnosis in a large sample of children with autism utilizing standardized assessment, and the relationship between motor difficulties, core autism symptomology, and other prominent clinical features. Vineland Adaptive Behavior Scales were administered to children from the Western Australian Register for Autism Spectrum Disorders aged </=6 years (N = 2,084 ; 81.2% males, 18.8% females). Prevalence of motor difficulties was quantified based on scores from the motor domain of the Vineland and then compared to other domains of functioning within the Vineland (communication, daily living, and socialization), the DSM criteria, intellectual level, age, and gender. Scores on the Vineland indicated that 35.4% of the sample met criteria for motor difficulties (standard score <70), a rate almost as common as intellectual impairment (37.7%). Motor difficulties were reported by diagnosing clinicians in only 1.34% of cases. Motor difficulties were common in those cases meeting diagnostic criteria for impairments in nonverbal behavior and the presence of restricted and repetitive behaviors. The prevalence of motor difficulties also increased with increasing age of diagnosis (P < 0.001). Findings from the present study highlight the need for further consideration of motor difficulties as a distinct specifier within the diagnostic criteria for ASD. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : In this population-based cohort that included 2,084 children with autism aged </=6 years, over one-third met the criteria for motor difficulties, a rate almost as common as intellectual disability. This study demonstrates that motor difficulties are a prominent feature of the autism phenotype requiring further consideration in both the diagnostic criteria and evaluation of autism.

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10. Morel-Kohlmeyer S. Vieillir avec un autisme. Rev Prat ;2019 (Jun) ;69(6):595-597.

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11. Muit JJ, Bothof N, Kan CC. Pharmacotherapy of ADHD in Adults With Autism Spectrum Disorder : Effectiveness and Side Effects. J Atten Disord ;2019 (Oct 18):1087054719866255.

Objective : Symptoms of ADHD are expected to be more difficult to treat in patients with a combination of ADHD and autism spectrum disorder (ASD) as opposed to only ADHD. Little evidence is available on the influence of ASD on the effects of pharmacotherapy in adults with ADHD. This study addresses this gap. Method : 60 adults with ADHD and comorbid ASD were selected from an outpatient clinic and compared with 226 adults from the same clinic with only ADHD. Similar treatment regimens were received. Results : Significant decreases in symptoms of ADHD were found in both groups. A diagnosis of ASD did not affect the reduction in symptoms of ADHD. No significant group differences in side effects or vital signs were found. Conclusion : Results show that medication for ADHD can effectively and safely be prescribed to patients with ADHD and comorbid ASD. Suggestions for future research are discussed.

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12. 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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13. Padmakumar M, Van Raes E, Van Geet C, Freson K. Blood platelet research in autism spectrum disorders : In search of biomarkers. Res Pract Thromb Haemost ;2019 (Oct) ;3(4):566-577.

Autism spectrum disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder that is caused by gene-environment interactions. To improve its diagnosis and treatment, numerous efforts have been undertaken to identify reliable biomarkers for autism. None of them have delivered the holy grail that represents a reproducible, quantifiable, and sensitive biomarker. Though blood platelets are mainly known to prevent bleeding, they also play pivotal roles in cancer, inflammation, and neurological disorders. Platelets could serve as a peripheral biomarker or cellular model for autism as they share common biological and molecular characteristics with neurons. In particular, platelet-dense granules contain neurotransmitters such as serotonin and gamma-aminobutyric acid. Molecular players controlling granule formation and secretion are similarly regulated in platelets and neurons. The major platelet integrin receptor alphaIIbbeta3 has recently been linked to ASD as a regulator of serotonin transport. Though many studies revealed associations between platelet markers and ASD, there is an important knowledge gap in linking these markers with autism and explaining the altered platelet phenotypes detected in autism patients. The present review enumerates studies of different biomarkers detected in ASD using platelets and highlights the future needs to bring this research to the next level and advance our understanding of this complex disorder.

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14. Pepper KL, Demetriou EA, Park SH, Boulton KA, Hickie IB, Thomas EE, Guastella AJ. Self-reported empathy in adults with autism, early psychosis, and social anxiety disorder. Psychiatry Res ;2019 (Oct 5) ;281:112604.

The Empathy Quotient (EQ) self-report questionnaire is used to measure empathy in individuals with clinical conditions that have been associated with social impairments. In this study, older teens and adults with autism spectrum disorder (ASD ; N=60), early psychosis (EP ; N=51) and social anxiety disorder (SAD ; N=71) and neurotypical controls (NT ; N=26) were compared on the cognitive empathy, emotional reactivity and social skills sub-scales of the Empathy Quotient (EQ) measure. All three clinical groups reported lower cognitive empathy than NT controls, and the ASD group reported lower cognitive empathy than EP and SAD groups. The ASD group reported lower emotional reactivity than the SAD group. All three clinical groups reported lower social skills that NT controls. The poor self-rated empathy for the ASD and EP groups generally reflects previous research that found individuals with these conditions perform relatively poorly on certain objective measures of empathy. However, the poor self-rated cognitive empathy and social skills for the SAD group conflicts with previous research that has found that SAD groups perform well on objective measures of empathy. This suggests that both EQ and objective measures should be used to fully assess empathy in clinical groups.

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15. 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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16. Schepici G, Cavalli E, Bramanti P, Mazzon E. Autism Spectrum Disorder and miRNA : An Overview of Experimental Models. Brain Sci ;2019 (Oct 3) ;9(10)

Autism spectrum disorder (ASD) is a complex neuropsychiatric disorder characterized by deficits in social interactions, communication, language, and in a limited repertoire of activities and interests. The etiology of ASD is very complex. Genetic, epigenetic, and environmental factors contribute to the onset of ASD. Researchers have shown that microRNAs (miRNAs) could be one of the possible causes associated with ASD. miRNAs are small noncoding mRNAs that regulate gene expression, and they are often linked to biological processes and implicated in neurodevelopment. This review aims to provide an overview of the animal models and the role of the different miRNAs involved in ASD. Therefore, the use of animal models that reproduce the ASD and the identification of miRNAs could be a useful predictive tool to study this disorder.

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17. 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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18. Valencia K, Rusu C, Quinones D, Jamet E. The Impact of Technology on People with Autism Spectrum Disorder : A Systematic Literature Review. Sensors (Basel) ;2019 (Oct 16) ;19(20)

People with autism spectrum disorder (ASD) tend to enjoy themselves and be engaged when interacting with computers, as these interactions occur in a safe and trustworthy environment. In this paper, we present a systematic literature review on the state of the research on the use of technology to teach people with ASD. We reviewed 94 studies that show how the use of technology in educational contexts helps people with ASD develop several skills, how these approaches consider aspects of user experience, usability and accessibility, and how game elements are used to enrich learning environments. This systematic literature review shows that the development and evaluation of systems and applications for users with ASD is very promising. The use of technological advancements such as virtual agents, artificial intelligence, virtual reality, and augmented reality undoubtedly provides a comfortable environment that promotes constant learning for people with ASD.

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