Pubmed du 17/04/17

lundi 17 avril 2017

1. Costa LG, Chang YC, Cole TB. Developmental Neurotoxicity of Traffic-Related Air Pollution : Focus on Autism. Curr Environ Health Rep ;2017 (Apr 17)

PURPOSE OF REVIEW : Epidemiological and animal studies suggest that air pollution may negatively affect the central nervous system (CNS) and contribute to CNS diseases. Traffic-related air pollution is a major contributor to global air pollution, and diesel exhaust (DE) is its most important component. RECENT FINDINGS : Several studies suggest that young individuals may be particularly susceptible to air pollution-induced neurotoxicity and that perinatal exposure may cause or contribute to developmental disabilities and behavioral abnormalities. In particular, a number of recent studies have found associations between exposures to traffic-related air pollution and autism spectrum disorders (ASD), which are characterized by impairment in socialization and in communication and by the presence of repetitive and unusual behaviors. The cause(s) of ASD are unknown, and while it may have a hereditary component, environmental factors are increasingly suspected as playing a pivotal role in its etiology, particularly in genetically susceptible individuals. Autistic children present higher levels of neuroinflammation and systemic inflammation, which are also hallmarks of exposure to traffic-related air pollution. Gene-environment interactions may play a relevant role in determining individual susceptibility to air pollution developmental neurotoxicity. Given the worldwide presence of elevated air pollution, studies on its effects and mechanisms on the developing brain, genetic susceptibility, role in neurodevelopmental disorders, and possible therapeutic interventions are certainly warranted.

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2. Fluegge K. Cost-effectiveness of Wait Time Reduction in Behavioral Interventions for Autism. JAMA Pediatr ;2017 (Apr 17)

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3. Hu Y, Ehli EA, Boomsma DI. MicroRNAs as biomarkers for psychiatric disorders with a focus on autism spectrum disorder : Current progress in genetic association studies, expression profiling, and translational research. Autism Res ;2017 (Apr 17)

MicroRNAs (miRNAs) are a group of small noncoding RNA molecules, 18-25 nucleotides in length, which can negatively regulate gene expression at the post-transcriptional level by binding to messenger RNAs. About half of all identified miRNAs in humans are expressed in the brain and display regulatory functions important for many biological processes related to the development of the central nervous system (CNS). Disruptions in miRNA biogenesis and miRNA-target interaction have been related to CNS diseases, including psychiatric disorders. In this review, we focus on the role of miRNAs in autism spectrum disorder (ASD) and summarize recent findings about ASD-associated genetic variants in miRNA genes, in miRNA biogenesis genes, and miRNA targets. We discuss deregulation of miRNA expression in ASD and functional validation of ASD-related miRNAs in animal models. Including miRNAs in studies of ASD will contribute to our understanding of its etiology and pathogenesis and facilitate the discrimination between different disease subgroups. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.

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4. Lagercrantz H. Are extremely preterm born children with autism the victims of too much isolation in the incubator ?. Acta Paediatr ;2017 (Apr 17)

When autism was first identified by Leo Kanner in 1943, he thought it was partially due to "genuine lack of maternal warmth". This "refrigerator mother theory" has been completely discarded and there is now a consensus that there is a connection between genetic heritability and autism spectrum disorder (ASD). Although Kanner was the first to publish a work on autism, the disease had already been observed by Hans Asperger in Vienna. The history of the discovery and recognition of autism is described in the interesting book : Neurotribes by Steve Silberman (1), This article is protected by copyright. All rights reserved.

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5. Lammert DB, Middleton FA, Pan J, Olson EC, Howell BW. The de novo Autism Spectrum Disorder RELN R2290C Mutation Reduces Reelin Secretion and Increases Protein Disulfide Isomerase Expression. J Neurochem ;2017 (Apr 17)

Despite the recent identification of over 40 missense heterozygous RELN mutations in ASD, none of these has been functionally characterized. Reelin is an integral signaling ligand for proper brain development and postnatal synapse function - properties likely disrupted in ASD patients. We find that the R2290C mutation, which arose de novo in an affected ASD proband, and other analogous mutations in RXR domains reduce protein secretion. Closer analysis of RELN R2290C heterozygous neurospheres reveals upregulation of Protein Disulfide Isomerase A1, best known as an ER-chaperone protein, which has been linked to neuronal pathology. This effect is recapitulated in a heterozygous RELN mouse mutant that is characterized by defective Reelin secretion. These findings suggest that both a deficiency in Reelin signaling and pathologic impairment of Reelin secretion may contribute to ASD risk. This article is protected by copyright. All rights reserved.

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6. Lee NA, Furrow JL, Bradley BA. Emotionally Focused Couple Therapy for Parents Raising a Child with an Autism Spectrum Disorder : A Pilot Study. J Marital Fam Ther ;2017 (Apr 17)

Many couples raising children diagnosed with an Autism Spectrum Disorder (ASD) are often resilient in confronting unique parental demands, while others experience greater risk for relational distress. Research has shown that Emotionally Focused Couple Therapy (EFT) is efficacious with couples raising chronically ill children and relevant to the relational demands of parents of children diagnosed with an ASD. This pilot study tested the effectiveness of EFT with seven couples presenting with moderate to severe distress, who were also parents of a child diagnosed with an ASD. Results demonstrated significant decreases in marital distress at posttreatment and 6-month follow-up. The study also identified several unique themes associated with couple distress and the parenting experiences of this population.

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7. Mezzacappa A, Lasica PA, Gianfagna F, Cazas O, Hardy P, Falissard B, Sutter-Dallay AL, Gressier F. Risk for Autism Spectrum Disorders According to Period of Prenatal Antidepressant Exposure : A Systematic Review and Meta-analysis. JAMA Pediatr ;2017 (Apr 17)

Importance : Several studies have examined the links between prenatal exposure to antidepressants and autism spectrum disorders (ASDs) in children, with inconsistent results, especially regarding the impact of the trimester of exposure. Objective : To perform a systematic review of the literature and a meta-analysis of published studies to assess the association between ASDs and fetal exposure to antidepressants during pregnancy for each trimester of pregnancy and preconception. Data Sources : PubMed, EMBASE, and PsycINFO databases up to May 2016 were searched in June 2016 for observational studies. For the meta-analyses, data were analyzed on RevMan version 5.2 using a random-effect model. For the review, studies were included if they had been published and were cohort or case-control studies, and for the meta-analysis, studies were included if they were published studies and the data were not derived from the same cohorts. Study Selection : We included all the studies that examined the association between ASDs and antenatal exposure to antidepressants. Data Extraction and Synthesis : Three reviewers independently screened titles and abstracts, read full-text articles, and extracted data. The quality of the studies was also assessed. Main Outcomes and Measures : Primary outcome was the association between antidepressants during pregnancy and ASDs. Secondary outcomes were the associations between antidepressants in each individual trimester or before pregnancy and ASDs. Results : Our literature search identified 10 relevant studies with inconsistent results. For prenatal exposure, the meta-analysis on the 6 case-control studies (117737 patients) evidenced a positive association between antidepressant exposure and ASDs (odds ratio [OR], 1.81 ; 95% CI, 1.49-2.20). The association was weaker when controlled for past maternal mental illness (OR, 1.52 ; 95% CI, 1.09-2.12). A similar pattern was found whatever the trimester of exposure considered (first trimester : OR, 2.09, 95% CI,1.66-2.64 ; second : OR, 2.00, 95% CI, 1.55-2.59 ; and third : OR, 1.90, 95% CI, 1.20-3.02. Controlled for past maternal mental illness : first trimester : OR, 1.79 ; 95% CI, 1.27-2.52, second : OR, 1.67, 95% CI, 1.14-2.45 ; and third : OR, 1.54, 95% CI, 0.82-2.90). No association was found when the 2 cohort studies were pooled (772331 patients) for the whole pregnancy (hazard ratio, 1.26 ; 95% CI, 0.91-1.74) or for the first trimester. In addition, preconception exposure to antidepressants was significantly associated with an increased risk for ASDs (OR controlled for past maternal illness, 1.77 ; 95% CI, 1.49-2.09). Conclusions and Relevance : There is a significant association between increased ASD risk and maternal use of antidepressants during pregnancy ; however, it appears to be more consistent during the preconception period than during each trimester. Maternal psychiatric disorders in treatment before pregnancy rather than antenatal exposure to antidepressants could have a major role in the risk for ASDs. Future studies should address the problem of this potential confounder.

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8. Patowary A, Nesbitt R, Archer M, Bernier R, Brkanac Z. Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder. Autism Res ;2017 (Apr 17)

Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role. Next generation sequencing approaches have been extensively used to identify rare variants associated with autism. To date, all such studies were focused on nuclear genome ; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored. Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data. We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families. In one of the families we have identified two variants of interest in MT-ND5 gene that were previously determined to impair mitochondrial function. In addition in a second family we have identified two VOIs ; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex. Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism. Autism Res 2017. (c) 2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

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9. Penner M. Cost Effectiveness of Wait Time Reduction in Behavioral Interventions for Autism-Reply. JAMA Pediatr ;2017 (Apr 17)

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10. Tas M, Yilmaz S, Bulut E, Polat Z, Tas A. Otoacoustic Emissions in Young Children with Autism. J Int Adv Otol ;2017 (Apr 17)

OBJECTIVE : The aim of this study is to investigate otoacoustic emissions (OAEs) in young children with autism compared with those in an age-matched control group. MATERIALS AND METHODS : Thirty-eight children with autism aged 3-6 years and 27 typically developing (normally developing) control subjects participated in this study. All the participants had normal hearing and middle-ear function. Auditory brainstem responses were used to determine the hearing status in the autism group. Transient-evoked otoacoustic emissions (TEOAEs) and distortion-product otoacoustic emissions (DPOAEs) were measured in the two groups. RESULTS : The TEOAE response level was higher in the autism group. Analysis of the DPOAE response showed that the mean emission levels at 1.5, 2 , 3, and 6 kHz and signal/noise ratios at 2, 4, 6, and 8 kHz were higher in the autism group (p<0.05). The greatest between-group differences were observed in the DPOAE signal levels at 2, 3, and 6 kHz (p=0.000). No statistically significant difference was found between the noise levels in the autism and control groups (p>0.05). CONCLUSION : The emission responses in the autism group were higher than those in the control group. The increase in DPOAEs at high frequencies may be related to the higher outer cell activation in the autism group. Further studies with larger sample sizes comprising younger children are needed to confirm the result and investigate the possible association between the increased OAEs and auditory sensitivity reported in autism.

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11. Tsao PC, Lee YS, Jeng MJ, Hsu JW, Huang KL, Tsai SJ, Chen MH, Soong WJ, Kou YR. Additive effect of congenital heart disease and early developmental disorders on attention-deficit/hyperactivity disorder and autism spectrum disorder : a nationwide population-based longitudinal study. Eur Child Adolesc Psychiatry ;2017 (Apr 17)

In this retrospective nationwide population-based case-control study, we investigated the impact of congenital heart disease (CHD) on the development of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), which remains unclear. Children aged <18 years that were diagnosed with CHD (n = 3552) between January 1, 1997 and December 31, 2009 were identified from the National Health Insurance Research Database in Taiwan. Non-CHD controls (n = 14,208) matched for age and sex (1:4) were selected from the same dataset. All subjects were observed until December 31, 2011 or their death. Comorbid perinatal conditions and early developmental disorders (EDD) that were diagnosed before ADHD and ASD diagnosis were also analyzed. The incidence rates of perinatal comorbidities, EDD, ADHD, and ASD were higher in the CHD group than in the control group. Multivariate Cox regression analysis revealed that the CHD group had an increased risk of developing ADHD (adjusted hazard ratio [aHR] 2.52, 95% confidence interval CI 1.96-3.25) and ASD (aHR 1.97, 95% CI 1.11-3.52) after adjusting for confounding comorbidities. EDD, but not perinatal comorbidities were also independent risk factors for ADHD and ASD after adjustment. Subgroup analysis indicated that the risk for ADHD (HR 16.59, 95% CI 12.17-22.60) and ASD (HR 80.68, 95% CI 39.96-176.12) was greatly increased in CHD subjects with EDD than in non-CHD subjects without EDD. These findings suggested that CHD at birth and EDD during early childhood were two independent risk factors for ADHD and ASD and that concurrent CHD and EDD might additively increase these risks.

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12. Vilidaite G, Yu M, Baker DH. Internal noise estimates correlate with autistic traits. Autism Res ;2017 (Apr 17)

Previous neuroimaging research has reported increased internal (neural) noise in sensory systems of autistic individuals. However, it is unclear if this difference has behavioural or perceptual consequences, as previous attempts at measuring internal noise in ASD psychophysically have been indirect. Here, we use a "gold standard" psychophysical double-pass paradigm to investigate the relationship between internal noise and autistic traits in the neurotypical population (n = 43). We measured internal noise in three tasks (contrast perception, facial expression intensity perception, and number summation) to estimate a global internal noise factor using principal components analysis. This global internal noise was positively correlated with autistic traits (rs = 0.32, P = 0.035). This suggests that increased internal noise is associated with the ASD phenotype even in subclinical populations. The finding is discussed in relation to the neural and genetic basis of internal noise in ASD. Autism Res 2017,. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.

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13. Wang W, Li C, Chen Q, van der Goes MS, Hawrot J, Yao AY, Gao X, Lu C, Zang Y, Zhang Q, Lyman K, Wang D, Guo B, Wu S, Gerfen CR, Fu Z, Feng G. Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism. J Clin Invest ;2017 (Apr 17)

The postsynaptic scaffolding protein SH3 and multiple ankyrin repeat domains 3 (SHANK3) is critical for the development and function of glutamatergic synapses. Disruption of the SHANK3-encoding gene has been strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show repetitive grooming and social interaction deficits. Although basal ganglia dysfunction has been proposed to underlie repetitive behaviors, few studies have provided direct evidence to support this notion and the exact cellular mechanisms remain largely unknown. Here, we utilized the Shank3B mutant mouse model of autism to investigate how Shank3 mutation may differentially affect striatonigral (direct pathway) and striatopallidal (indirect pathway) medium spiny neurons (MSNs) and its relevance to repetitive grooming behavior in Shank3B mutant mice. We found that Shank3 deletion preferentially affects synapses onto striatopallidal MSNs. Striatopallidal MSNs showed profound defects, including alterations in synaptic transmission, synaptic plasticity, and spine density. Importantly, the repetitive grooming behavior was rescued by selectively enhancing the striatopallidal MSN activity via a Gq-coupled human M3 muscarinic receptor (hM3Dq), a type of designer receptors exclusively activated by designer drugs (DREADD). Our findings directly demonstrate the existence of distinct changes between 2 striatal pathways in a mouse model of autism and indicate that the indirect striatal pathway disruption might play a causative role in repetitive behavior of Shank3B mutant mice.

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14. Westwood H, Mandy W, Simic M, Tchanturia K. Assessing ASD in Adolescent Females with Anorexia Nervosa using Clinical and Developmental Measures : a Preliminary Investigation. J Abnorm Child Psychol ;2017 (Apr 17)

The aim of this study was to use standardised, clinical assessment tools to explore the presence of Autism Spectrum Disorder (ASD) symptoms in a sample of adolescent females with Anorexia Nervosa (AN), receiving either day-patient or inpatient treatment for their eating disorder and to determine whether any such symptoms were present during the early developmental period, a requirement for a diagnosis of ASD. Using a cross-sectional design, 40 females aged between 12 and 18 were recruited from inpatient and day-patient eating disorder services. All participants had a diagnosis of AN and were assessed for symptoms of ASD using the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2). If participants scored at or above clinical cut-off on the ADOS-2, their parents were asked to complete the Developmental, Dimensional and Diagnostic Interview, short version (3Di-sv). Of the 40 participants assessed, 21 scored above cut-off on the ADOS-2. When developmental history was obtained, only four participants scored above cut-off on all sub-scales of the 3Di-sv, thus meeting full research criteria for ASD. This study suggests that 10% of adolescents with AN from inpatient or day-patient settings may have diagnosable ASD, while a further 40% may show symptoms of ASD, which may arise from the ill-state of AN or are not supported by parental report.

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15. Zwicker J, Zaresani A, Emery JCH. Describing heterogeneity of unmet needs among adults with a developmental disability : An examination of the 2012 Canadian Survey on Disability. Res Dev Disabil ;2017 (Apr 13) ;65:1-11.

BACKGROUND : As a signatory to the UN Convention on the Rights of Persons with Disabilities, Canada has committed to protect the rights and dignity of persons with developmental disabilities (DD), which means that labour markets, education, and training opportunities should be inclusive and accessible. PURPOSE : Describe the unmet employment, education and daily needs of adults with DD, with a sub analysis of persons with autism spectrum disorder (ASD) and cerebral palsy (CP) in Canada, to inform efficient and equitable policy development. METHODS AND PROCEDURES : Secondary analysis of 2012 Canadian Survey on Disability was used to study a sample including working age (15-64 years old) individuals with self-reported DD, CP and ASD. Persons with DD reported on their met and unmet needs in term of activities of daily living, education and employment. OUTCOMES AND RESULTS : Labour force participation is the lowest for those with DD compared to any other disability. Individuals with CP and ASD report a high level of unmet needs that differ in terms of educational, vocational and daily living supports. CONCLUSIONS AND IMPLICATIONS : Improving labour force participation to be inclusive and accessible requires policy that considers the range of unmet needs that exist for persons with DD.

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