Pubmed du 04/01/18

jeudi 4 janvier 2018

1. Al-Ayadhi L, Alhowikan A, Halepoto D. Impact of Auditory Integrative Training (AIT) on Transforming Growth Factor Beta 1 (TGF-beta1) and Its Effect on Behavioural and Social Emotions in Children with Autism Spectrum Disorder (ASD). Medical principles and practice : international journal of the Kuwait University, Health Science Centre. 2018.

OBJECTIVE : To explore the impact of auditory integrative training (AIT) on inflammatory biomarker transforming growth factor-beta1 (TGF-beta1) and to assess its effect on social behaviours in children with autism spectrum disorder (ASD). SUBJECTS AND METHODS : In this cross-sectional study 15 subjects (14 males, I female) with ASD aged 3-12 years were recruited. All subjects were screened for autism by Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). Plasma levels of TGF-beta1 in all subjects were measured using sandwich enzyme immunoassay (ELISA) immediately after the AIT sessions and after 1 and 3 months. Pre-AIT and post-AIT behavioural scores were also calculated for each child using the Childhood Autism Rating Scale (CARS), Social Responsiveness Scale (SRS), and the Short Sensory Profile (SSP). Data was analysed using the Statistical Package for the Social Sciences (SPSS) computer program (SPSS 21.0 for Windows, Chicago, Illinois, USA). RESULTS : Plasma levels of TGF-beta1 significantly increased to 85% immediately (20.13+/-12, p <0.05), to 95% after one month (21.2+/-11, p <0.01) and 105% after three months (22.25+/-16, p<0.01) of AIT intervention. Results also revealed that behavioural rating scales CARS, SRS and SSP improved in terms of severity of disease after AIT session. CONCLUSION : Increased plasma levels of TGF-beta1 support the therapeutic effect of AIT on TGF-beta1 followed by improvement in social awareness, social cognition, and social communication in children with ASD. Furthermore TGF-beta1was associated with the severity of all tested scores (CARS, SRS and SSP) ; if confirmed in studies on larger sample sizes, TGF-beta1 may be considered as a marker of severity of ASD and to assess efficacy of therapeutic interventions.

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2. Antunes G, da Silva SFF, de Souza FMS. Mirror Neurons Modeled Through Spike-Timing-Dependent Plasticity are Affected by Channelopathies Associated with Autism Spectrum Disorder. International journal of neural systems. 2017 : 1750058.

Mirror neurons fire action potentials both when the agent performs a certain behavior and watches someone performing a similar action. Here, we present an original mirror neuron model based on the spike-timing-dependent plasticity (STDP) between two morpho-electrical models of neocortical pyramidal neurons. Both neurons fired spontaneously with basal firing rate that follows a Poisson distribution, and the STDP between them was modeled by the triplet algorithm. Our simulation results demonstrated that STDP is sufficient for the rise of mirror neuron function between the pairs of neocortical neurons. This is a proof of concept that pairs of neocortical neurons associating sensory inputs to motor outputs could operate like mirror neurons. In addition, we used the mirror neuron model to investigate whether channelopathies associated with autism spectrum disorder could impair the modeled mirror function. Our simulation results showed that impaired hyperpolarization-activated cationic currents (Ih) affected the mirror function between the pairs of neocortical neurons coupled by STDP.

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3. Ben Said M, Robel L, Golse B, Jais JP. Strengthening Data Confidentiality and Integrity Protection in the Context of a Multi-Centric Information System Dedicated to Autism Spectrum Disorder. Studies in health technology and informatics. 2017 ; 245 : 1133-7.

Autism spectrum disorders (ASD) are complex neuro-developmental disorders affecting children in early age. Diagnosis relies on multidisciplinary investigations, in psychiatry, neurology, genetics, electrophysiology, neuro-imagery, audiology, and ophthalmology. To support clinicians, researchers, and public health decision makers, we developed an information system dedicated to ASD, called TEDIS. It was designed to manage systematic, exhaustive and continuous multi-centric patient data collection via secured internet connections. TEDIS will be deployed in nine ASD expert assessment centers in Ile-DeFrance district. We present security policy and infrastructure developed in context of TEDIS to protect patient privacy and clinical information. TEDIS security policy was organized around governance, ethical and organisational chart-agreement, patients consents, controlled user access, patients’ privacy protection, constrained patients’ data access. Security infrastructure was enriched by further technical solutions to reinforce ASD patients’ privacy protection. Solutions were tested on local secured intranet environment and showed fluid functionality with consistent, transparent and safe encrypting-decrypting results.

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4. Besag FM. Epilepsy in patients with autism : links, risks and treatment challenges. Neuropsychiatr Dis Treat. 2018 ; 14 : 1-10.

Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence. The rate of autism in epilepsy is much higher in those with intellectual disability. In conditions such as the Landau-Kleffner syndrome and nonconvulsive status epilepticus, the epilepsy itself may present with autistic features. There is no plausible mechanism for autism causing epilepsy, however. The co-occurrence of autism and epilepsy is almost certainly the result of underlying factors predisposing to both conditions, including both genetic and environmental factors. Conditions such as attention deficit hyperactivity disorder, anxiety and sleep disorders are common in both epilepsy and autism. Epilepsy is generally not a contraindication to treating these conditions with suitable medication, but it is important to take account of relevant drug interactions. One of the greatest challenges in autism is to determine why early childhood regression occurs in perhaps 25%. Further research should focus on finding the cause for such regression. Whether epilepsy plays a role in the regression of a subgroup of children with autism who lose skills remains to be determined.

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5. Cheung V, McCarthy ML, Cicero MX, Leventhal JM, Weitzman C. Emergency Medical Responders and Adolescents With Autism Spectrum Disorder. Pediatric emergency care. 2018.

OBJECTIVES : Because of the high prevalence of Autism Spectrum Disorder (ASD) and wandering behavior, emergency medical responders (EMRs) will likely encounter children and adolescents with ASD. The objectives were to describe interactions between EMRs and children and adolescents with ASD, to evaluate EMRs’ ability to recognize ASD in a simulated trauma setting, and to determine if EMRs’ demographic characteristics affected their interactions with ASD youth. METHODS : A study of 75 videos of a simulated school bus crash was performed. The simulation included an adolescent with ASD portrayed by an actor. Videos were coded based on 5 domains : (1) reassurance attempts by the EMR, (2) quality of the EMR’s interactions, (3) EMR’s elicitation of information, (4) EMR’s interactions with others, and (5) EMR’s recognition of a disability. Two clinicians coded the videos independently, and consensus was reached for any areas of disagreement. RESULTS : Of 75 interactions, 27% provided reassurance to the adolescent with ASD, 1% elicited information, 11% asked bystanders for information or assistance, and 35% suggested a disability with 13% considering ASD. No differences across domains were found based on the EMR’s sex. Emergency medical responders with greater than or equal to 5 years of experience were significantly more likely to elicit information than those with less than 5 years of experience, and paramedics had significantly higher total performance scores than paramedic students or those with EMT-Basic. CONCLUSIONS : Few EMRs in this study optimally interacted with adolescents with ASD or recognized a disability. These findings suggest a strong need for targeted educational interventions.

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6. Esnafoglu E, Irende I. Decreased plasma agmatine levels in autistic subjects. J Neural Transm (Vienna). 2018.

Agmatine is a polyamine endogenously synthesized from arginine and is considered to be a new neurotransmitter. Agmatine has been implicated in the pathophysiology of several diseases such as anxiety disorder, depression, and schizophrenia. Agmatine also possesses anticonvulsant, neuroprotective, antiapoptotic, antioxidant, anxiolytic, and antidepressant effects. Furthermore, agmatine inhibits the nitric oxide synthase enzyme and exerts antagonist effects on NMDA, alpha-2, and imidazoline receptors. Considering these characteristics, the present study investigated whether agmatine plays a role in the pathogenesis of autistic spectrum disorders (ASDs). Therefore, plasma agmatine levels were evaluated in 34 patients with ASD and 28 non-ASD controls. Plasma agmatine levels were measured using the HPLC method. The study found remarkably lower agmatine levels in patients with ASD compared with the non-ASD control group (p < 0.001). These findings support the notion that agmatine might contribute to the pathogenesis of ASD and may serve as a new target for treatment.

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7. Ilieva M, Fex Svenningsen A, Thorsen M, Michel TM. Psychiatry in a Dish : Stem Cells and Brain Organoids Modeling Autism Spectrum Disorders. Biol Psychiatry. 2017.

Autism spectrum disorders are a group of pervasive neurodevelopmental conditions with heterogeneous etiology, characterized by deficits in social cognition, communication, and behavioral flexibility. Despite an increasing scientific effort to find the pathophysiological explanations for the disease, the neurobiological links remain unclear. A large amount of evidence suggests that pathological processes taking place in early embryonic neurodevelopment might be responsible for later manifestation of autistic symptoms. This dysfunctional development includes altered maturation/differentiation processes, disturbances in cell-cell communication, and an unbalanced ratio between certain neuronal populations. All those processes are highly dependent on the interconnectivity and three-dimensional organizations of the brain. Moreover, in order to gain a deeper understanding of the complex neurobiology of autism spectrum disorders, valid disease models are pivotal. Induced pluripotent stem cells could potentially help to elucidate the complex mechanisms of the disease and lead to the development of more effective individualized treatment. The induced pluripotent stem cells approach allows comparison between the development of various cellular phenotypes generated from cell lines of patients and healthy individuals. A newly advanced organoid technology makes it possible to create three-dimensional in vitro models of brain development and structural interconnectivity, based on induced pluripotent stem cells derived from the respective individuals. The biggest challenge for modeling psychiatric diseases in vitro is finding and establishing the link between cellular and molecular findings with the clinical symptoms, and this review aims to give an overview over the feasibility and applicability of this new tissue engineering tool in psychiatry.

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8. Lyall K, Yau VM, Hansen R, Kharrazi M, Yoshida CK, Calafat AM, Windham G, Croen LA. Prenatal Maternal Serum Concentrations of Per- and Polyfluoroalkyl Substances in Association with Autism Spectrum Disorder and Intellectual Disability. Environmental health perspectives. 2018 ; 126(1) : 017001.

BACKGROUND : Emerging work has examined neurodevelopmental outcomes following prenatal exposure to per- and polyfluoroalkyl substances (PFAS), but few studies have assessed associations with autism spectrum disorder (ASD). OBJECTIVES : Our objective was to estimate associations of maternal prenatal PFAS concentrations with ASD and intellectual disability (ID) in children. METHODS : Participants were from a population-based nested case-control study of children born from 2000 to 2003 in southern California, including children diagnosed with ASD (n=553), ID without autism (n=189), and general population (GP) controls (n=433). Concentrations of eight PFAS from stored maternal sera collected at 15-19 wk gestational age were quantified and compared among study groups. We used logistic regression to obtain adjusted odds ratios for the association between prenatal PFAS concentrations (parameterized continuously and as quartiles) and ASD versus GP controls, and separately for ID versus GP controls. RESULTS : Geometric mean concentrations of most PFAS were lower in ASD and ID groups relative to GP controls. ASD was not significantly associated with prenatal concentrations of most PFAS, though significant inverse associations were found for perfluorooctanoate (PFOA) and perfluorooctane sulfonate (PFOS) [adjusted ORs for the highest vs. lowest quartiles 0.62 (95% CI : 0.41, 0.93) and 0.64 (95% CI : 0.43, 0.97), respectively]. Results for ID were similar. CONCLUSIONS : Results from this large case-control study with prospectively collected prenatal measurements do not support the hypothesis that prenatal exposure to PFAS is positively associated with ASD or ID. https://doi.org/10.1289/EHP1830.

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9. Piven J, Elison JT, Zylka MJ. Toward a conceptual framework for early brain and behavior development in autism. Mol Psychiatry. 2018 ; 23(1) : 165.

This corrects the article DOI : 10.1038/mp.2017.131.

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10. Sahin NT, Keshav NU, Salisbury JP, Vahabzadeh A. Second Version of Google Glass as a Wearable Socio-Affective Aid : Positive School Desirability, High Usability, and Theoretical Framework in a Sample of Children with Autism. JMIR human factors. 2018 ; 5(1) : e1.

BACKGROUND : Computerized smartglasses are being developed as an assistive technology for daily activities in children and adults with autism spectrum disorder (ASD). While smartglasses may be able to help with educational and behavioral needs, their usability and acceptability in children with ASD is largely unknown. There have been reports of negative social perceptions surrounding smartglasses use in mainstream populations, a concern given that assistive technologies may already carry their own stigma. Children with ASD may also have a range of additional behavioral, developmental, and social challenges when asked to use this emerging technology in school and home settings. OBJECTIVE : The usability and acceptability of Glass Enterprise Edition (Glass), the successor to Google Glass smartglasses, were explored in children with ASD and their caregivers. METHODS : Eight children with ASD and their caregivers were recruited to attend a demonstration session with Glass smartglasses the week they were publicly released. The children had a wide range of ability, including limited speech to speaking, and represented a full range of school ages (6 to 17 years). Children and caregivers were interviewed about their experience of using the smartglasses and whether they would use them at school and home. RESULTS : All 8 children succeeded in using Glass and did not feel stressed (8/8, 100%) or experience any overwhelming sensory or emotional issues during the session (8/8, 100%). All 8 children (8/8, 100%) endorsed that they would be willing to wear and use the device in both home and school settings. Caregivers felt the experience was fun for the children (8/8, 100%), and most caregivers felt the experience was better than they had expected (6/8, 75%). CONCLUSIONS : A wide age and ability range of children with ASD used Glass immediately after it was released and found it to be usable and acceptable. Despite concerns about potential stigma or social acceptability, all of the children were prepared to use the technology in both home and school settings. Encouragingly, most caregivers noted a very positive response. There were no behavioral, developmental, or social- or stigma-related concerns during or after the session. Smartglasses may be a useful future technology for children with ASD and are readily accepted for use by children with ASD and their caregivers.

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11. Vallee A, Vallee JN. Warburg effect hypothesis in autism Spectrum disorders. Molecular brain. 2018 ; 11(1) : 1.

Autism spectrum disorder (ASD) is a neurodevelopmental disease which is characterized by a deficit in social interactions and communication with repetitive and restrictive behavior. In altered cells, metabolic enzymes are modified by the dysregulation of the canonical WNT/beta-catenin pathway. In ASD, the canonical WNT/beta-catenin pathway is upregulated. We focus this review on the hypothesis of Warburg effect stimulated by the overexpression of the canonical WNT/beta-catenin pathway in ASD. Upregulation of WNT/beta-catenin pathway induces aerobic glycolysis, named Warburg effect, through activation of glucose transporter (Glut), pyruvate kinase M2 (PKM2), pyruvate dehydrogenase kinase 1(PDK1), monocarboxylate lactate transporter 1 (MCT-1), lactate dehydrogenase kinase-A (LDH-A) and inactivation of pyruvate dehydrogenase complex (PDH). The aerobic glycolysis consists to a supply of a large part of glucose into lactate regardless of oxygen. Aerobic glycolysis is less efficient in terms of ATP production than oxidative phosphorylation because of the shunt of the TCA cycle. Dysregulation of energetic metabolism might promote cell deregulation and progression of ASD. Warburg effect regulation could be an attractive target for developing therapeutic interventions in ASD.

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12. Xu G, Strathearn L, Liu B, Bao W. Prevalence of Autism Spectrum Disorder Among US Children and Adolescents, 2014-2016. Jama. 2018 ; 319(1) : 81-2.

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13. Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee SL, Yang W, Chung BH. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. Mol Autism. 2017 ; 8 : 66.

Background : Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients. Methods : We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutations were validated by droplet digital PCR. Results : We identified ten pathogenic/likely pathogenic mutations in PTEN (n = 4), PIK3CA (n = 3), MTOR (n = 1) and PPP2R5D (n = 2) in ten patients. An additional PTEN mutation, which was classified as variant of unknown significance, was identified in a patient with a pathogenic PTEN mutation, making him harbour bi-allelic germline PTEN mutations. Two patients harboured somatic PIK3CA mutations, and the level of somatic mosaicism in blood DNA was low. Patients who tested positive for mutations in the PI3K-AKT-mTOR pathway had a lower developmental quotient than the rest of the cohort (DQ = 62.8 vs. 76.1, p = 0.021). Their dysmorphic features were non-specific, except for macrocephaly. Among the ten patients with identified mutations, brain magnetic resonance imaging was performed in nine, all of whom showed megalencephaly. Conclusion : We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder.

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