Pubmed du 28/11/18

mercredi 28 novembre 2018

1. Broder-Fingert S, Sheldrick CR, Silverstein M. The Value of State Differences in Autism When Compared to a National Prevalence Estimate. Pediatrics. 2018.

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2. Burket JA, Deutsch SI. Metabotropic functions of the NMDA receptor and an evolving rationale for exploring NR2A-selective positive allosteric modulators for the treatment of autism spectrum disorder. Progress in neuro-psychopharmacology & biological psychiatry. 2018.

NMDA receptors are widely distributed throughout the brain and major therapeutic challenges include targeting specific NMDA receptor subtypes while preserving spatial and temporal specificity during their activation. The NR2A-subunit containing NMDA receptor is implicated in regulating synchronous oscillatory output of cortical pyramidal neurons, which may be disturbed in clinical presentations of autism spectrum disorder (ASD). Because NR2A-selective positive allosteric modulators (PAMs) preserve spatial and temporal selectivity while activating this subpopulation of receptors, they represent a promising strategy to address neocortical circuit abnormalities in ASD. In addition to promoting Ca(2+) entry and membrane depolarization, diverse metabotropic effects of NMDA receptor activation on signal transduction pathways occur within the cell, some of which depend on alignment of protein binding partners. For example, NMDA receptor agonist interventions attenuate impaired sociability in transgenic mice with ’loss-of-function’ mutations of the Shank family of scaffolding proteins, which highlights the necessity of a carefully orchestrated alignment of protein binding partners in the excitatory synapse. The current Review considers metabotropic functions of the NMDA receptor that could play a role in sociability and the pathogenesis of ASD (e.g., mTOR signaling), in addition to its more familiar ionotropic functions, and provides a rationale for therapeutic exploration of NR2A-selective PAMs.

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3. Garrido D, Carballo G, Artis J, Garcia-Retamero R. Timing of Parents’ Concerns Related to Autism Spectrum Disorder and its Diagnosis : A Mediation Analysis. The Spanish journal of psychology. 2018 ; 21 : E59.

Parents are the first to indicate concerns about their child’s development in up to 80% of children with autism spectrum disorder (ASD). They often notice symptoms related to ASD around the first two years, but the average age of diagnosis is 3.5 years old. This study examined the relationships between parents’ early concerns and the time lag between suspicion and diagnosis. Forty-eight Spanish-speaking families were enrolled in this study. Parents were asked about early signs that made them think that their child could possibly have ASD. Mediation analyses showed that the child’s age at suspicion mediated between sibling status and the time lag between suspicion and a formal diagnosis (beta = -.53, p < .01). Having another child with typical development accelerated parents’ detection of ASD signs (beta = -.62, p < .001). The number of social-communication concerns that parents detected mediated this relationship (beta = -.28, p < .01). Parents who reported more social-communication concerns perceived these signs earlier, but have to cope with a longer time lag until diagnosis than those who reported more concerns related to restrictive and repetitive behaviors and interests, or other developmental concerns. Moreover, this relationship between concerns of ASD and the diagnoses was explained by the child’s age. Training pediatricians on how to respond to parent questions and concerns could reduce the time lag between parents’ concerns and diagnosis of ASD.

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4. Kogan MD, Vladutiu CJ, Schieve LA, Ghandour RM, Blumberg SJ, Zablotsky B, Perrin JM, Shattuck P, Kuhlthau KA, Harwood RL, Lu MC. The Prevalence of Parent-Reported Autism Spectrum Disorder Among US Children. Pediatrics. 2018.

 : media-1vid110.1542/5839990273001PEDS-VA_2017-4161Video Abstract OBJECTIVES : To estimate the national prevalence of parent-reported autism spectrum disorder (ASD) diagnosis among US children aged 3 to 17 years as well as their treatment and health care experiences using the 2016 National Survey of Children’s Health (NSCH). METHODS : The 2016 NSCH is a nationally representative survey of 50 212 children focused on the health and well-being of children aged 0 to 17 years. The NSCH collected parent-reported information on whether children ever received an ASD diagnosis by a care provider, current ASD status, health care use, access and challenges, and methods of treatment. We calculated weighted prevalence estimates of ASD, compared health care experiences of children with ASD to other children, and examined factors associated with increased likelihood of medication and behavioral treatment. RESULTS : Parents of an estimated 1.5 million US children aged 3 to 17 years (2.50%) reported that their child had ever received an ASD diagnosis and currently had the condition. Children with parent-reported ASD diagnosis were more likely to have greater health care needs and difficulties accessing health care than children with other emotional or behavioral disorders (attention-deficit/hyperactivity disorder, anxiety, behavioral or conduct problems, depression, developmental delay, Down syndrome, intellectual disability, learning disability, Tourette syndrome) and children without these conditions. Of children with current ASD, 27% were taking medication for ASD-related symptoms, whereas 64% received behavioral treatments in the last 12 months, with variations by sociodemographic characteristics and co-occurring conditions. CONCLUSIONS : The estimated prevalence of US children with a parent-reported ASD diagnosis is now 1 in 40, with rates of ASD-specific treatment usage varying by children’s sociodemographic and co-occurring conditions.

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5. Li WH, Hu LF, Yuan L, Hao G, Zhu ZW. The Application of the First Year Inventory for ASD Screening in China. Journal of pediatric nursing. 2018.

PURPOSE : The First Year Inventory (FYI) is a parent-report instrument, and is developed to assess behaviors of 12-month-old infants that could suggest risk for an eventual diagnosis of autism. This study was designed to examine the application of the FYI in the Chinese community. DESIGN AND METHODS : FYIs were completed at a community health center by 541 families during the child’s physical examination at 12months of age from 2013 to 2015. The weighted risk scores used in this study were based on US norms, and compared the FYI differences between China and the U.S. RESULTS : The total risk scores ranged from 5 to 42 points ; the 95th percentile cutoff was 27.00(9.8 points higher than the 95th percentile cutoff in the US), the 98th percentile cutoff was 29.66(7.04 points higher than the 98th percentile cutoff in the US), and the 99th percentile cutoff was 31.83. Higher risk scores were found for boys than girls. Mothers with a junior college education reported significantly higher FYI risk scores than other three groups including high school, college graduates and post-graduates. CONCLUSIONS : There were no significant effects of birth parity, investigator, or investigation year on risk scores. Large-scale longitudinal research is encouraged in the future to develop an early detection model of autism in China.

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6. Mari-Bauset S, Donat-Vargas C, Llopis-Gonzalez A, Mari-Sanchis A, Peraita-Costa I, Llopis-Morales J, Morales-Suarez-Varela M. Endocrine Disruptors and Autism Spectrum Disorder in Pregnancy : A Review and Evaluation of the Quality of the Epidemiological Evidence. Children (Basel, Switzerland). 2018 ; 5(12).

Exposure to environmental contaminants during pregnancy has been linked to adverse health outcomes later in life. Notable among these pollutants are the endocrine disruptors chemicals (EDCs), which are ubiquitously present in the environment and they have been measured and quantified in the fetus. In this systematic review, our objective was to summarize the epidemiological research on the potential association between prenatal exposure to EDCs and Autism Spectrum Disorder (ASD) published from 2005 to 2016. The Navigation Guide Systematic Review Methodology was applied. A total of 17 studies met the inclusion criteria for this review, including : five cohorts and 12 case-control. According to the definitions specified in the Navigation Guide, we rated the quality of evidence for a relationship between prenatal exposure to EDCs and ASD as "moderate". Although the studies generally showed a positive association between EDCs and ASD, after considering the strengths and limitations, we concluded that the overall strength of evidence supporting an association between prenatal exposure to EDCs and later ASD in humans remains "limited" and inconclusive. Further well-conducted prospective studies are warranted to clarify the role of EDCs on ASD development.

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7. Perets N, Hertz S, London M, Offen D. Intranasal administration of exosomes derived from mesenchymal stem cells ameliorates autistic-like behaviors of BTBR mice. Molecular autism. 2018 ; 9 : 57.

Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by three core symptoms that include social interaction deficits, cognitive inflexibility, and communication disorders. They have been steadily increasing in children over the past several years, with no effective treatment. BTBR T+tf/J (BTBR) mice are an accepted model of evaluating autistic-like behaviors as they present all core symptoms of ASD. We have previously shown that transplantation of human bone marrow mesenchymal stem cells (MSC) to the lateral ventricles of BTBR mice results in long lasting improvement in their autistic behavioral phenotypes. Recent studies point exosomes as the main mediators of the therapeutic effect of MSC. Here, we tested whether treatment with the exosomes secreted from MSC (MSC-exo) will show similar beneficial effects. We found that intranasal administration of MSC-exo increased male to male social interaction and reduced repetitive behaviors. Moreover, the treatment led to increases of male to female ultrasonic vocalizations and significant improvement in maternal behaviors of pup retrieval. No negative symptoms were detected following MSC-exo intranasal treatments in BTBR or healthy C57BL mice. The marked beneficial effects of the exosomes in BTBR mice may translate to a novel, non-invasive, and therapeutic strategy to reduce the symptoms of ASD.

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8. Sigafoos J, O’Reilly MF, Ledbetter-Cho K, Lim N, Lancioni GE, Marschik PB. Addressing sequelae of developmental regression associated with developmental disabilities : A systematic review of behavioral and educational intervention studies. Neuroscience and biobehavioral reviews. 2018.

Developmental regression is characteristic of Rett syndrome and it also occurs in a number of other developmental disabilities. To assist clinicians in identifying promising therapeutic approaches, we identified 38 studies that sought to improve adaptive behavior functioning in cases where developmental regression had either already occurred or was likely to occur. Studies were summarized in terms of (a) participants, (b) intervention, (c) dependent variables, (d) outcomes, (e) study design, and (f) certainty of evidence. The available literature included 136 participants from preschoolers to adults. Most participants (n = 132) had Rett syndrome. Interventions targeted a range of dependent variables (e.g., challenging behavior, communication, motor, and play skills). Multi-component interventions derived from behavior analytic principles were the norm, suggesting the need for clinical expertise in the application of such principles. However, only 12 studies (with 44 participants) were rated as providing conclusive evidence of a positive intervention effect. Future research on the mechanisms underlying developmental regression might lead to new and more effective interventions.

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9. Tariq Q, Daniels J, Schwartz JN, Washington P, Kalantarian H, Wall DP. Mobile detection of autism through machine learning on home video : A development and prospective validation study. PLoS medicine. 2018 ; 15(11) : e1002705.

BACKGROUND : The standard approaches to diagnosing autism spectrum disorder (ASD) evaluate between 20 and 100 behaviors and take several hours to complete. This has in part contributed to long wait times for a diagnosis and subsequent delays in access to therapy. We hypothesize that the use of machine learning analysis on home video can speed the diagnosis without compromising accuracy. We have analyzed item-level records from 2 standard diagnostic instruments to construct machine learning classifiers optimized for sparsity, interpretability, and accuracy. In the present study, we prospectively test whether the features from these optimized models can be extracted by blinded nonexpert raters from 3-minute home videos of children with and without ASD to arrive at a rapid and accurate machine learning autism classification. METHODS AND FINDINGS : We created a mobile web portal for video raters to assess 30 behavioral features (e.g., eye contact, social smile) that are used by 8 independent machine learning models for identifying ASD, each with >94% accuracy in cross-validation testing and subsequent independent validation from previous work. We then collected 116 short home videos of children with autism (mean age = 4 years 10 months, SD = 2 years 3 months) and 46 videos of typically developing children (mean age = 2 years 11 months, SD = 1 year 2 months). Three raters blind to the diagnosis independently measured each of the 30 features from the 8 models, with a median time to completion of 4 minutes. Although several models (consisting of alternating decision trees, support vector machine [SVM], logistic regression (LR), radial kernel, and linear SVM) performed well, a sparse 5-feature LR classifier (LR5) yielded the highest accuracy (area under the curve [AUC] : 92% [95% CI 88%-97%]) across all ages tested. We used a prospectively collected independent validation set of 66 videos (33 ASD and 33 non-ASD) and 3 independent rater measurements to validate the outcome, achieving lower but comparable accuracy (AUC : 89% [95% CI 81%-95%]). Finally, we applied LR to the 162-video-feature matrix to construct an 8-feature model, which achieved 0.93 AUC (95% CI 0.90-0.97) on the held-out test set and 0.86 on the validation set of 66 videos. Validation on children with an existing diagnosis limited the ability to generalize the performance to undiagnosed populations. CONCLUSIONS : These results support the hypothesis that feature tagging of home videos for machine learning classification of autism can yield accurate outcomes in short time frames, using mobile devices. Further work will be needed to confirm that this approach can accelerate autism diagnosis at scale.

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10. Wang B, Li HH, Yue XJ, Jia FY, Du L. [A review on the role of gamma-aminobutyric acid signaling pathway in autism spectrum disorder]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2018 ; 20(11) : 974-8.

The etiology and pathogenesis of autism spectrum disorder (ASD) are not yet clear. Studies have shown that there are many neurotransmitter abnormalities in children with ASD, mainly involving in glutamate, gamma-aminobutyric acid (GABA), dopamine, 5-HT and oxytocin. The imbalance of excitatory glutamatergic neurotransmitters and inhibitory GABAergic neurotransmitters is closely related to the pathogenesis of ASD. Both animal model studies and clinical studies on ASD suggest that GABA signaling pathway may play an important role in the pathogenesis of ASD. This article reviews the research on the association between GABA signaling pathway and the pathogenesis of ASD to further explore the pathogenesis of ASD and provide theoretical basis for the treatment of ASD.

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