Pubmed du 23/05/20

samedi 23 mai 2020

1. Eskandari B, Pouretemad H, Mousavi M, Farahani H. Common elements of parent management training programs for preschool children with autism spectrum disorder. Asian J Psychiatr. 2020 ; 52 : 102149.

Parent management training is a general set of interventions used as a part of a variety of clinical approaches to reduce behavioral problems of children. These behavioral problems in children with special needs (such as autism spectrum disorder) take a more complex form. The objective is to present elements, needed to develop parent management training program to reduce behavioral problems in preschool children with autism spectrum disorder. At first, all parent management training programs for reducing behavioral problems of preschool children were collected. Subsequently, all programs were reviewed from the perspective of having a systematic review or meta-analysis, confirming the effectiveness of this program at preschool age. After that, interviews with experts and parents were conducted to identify effective elements on development of this program. In the next step, a set of components was obtained using information about parent management training programs as well as items obtained from interviews with experts and parents. At this stage, 10 experts were asked to rate the items according to their importance using the Delphi method. The items that achieved the required scores were introduced as main items. The number of them was 13 and included items such as full assessment of the child and appropriate communication with the child. Considering the characteristics of children with autism spectrum disorder will require changes in some parts of parent management training program, therefore, it is necessary to develop a specific program for these children to cover all of their characteristics.

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2. Bunt D, van Kessel R, Hoekstra RA, Czabanowska K, Brayne C, Baron-Cohen S, Roman-Urrestarazu A. Quotas, and Anti-discrimination Policies Relating to Autism in the EU : Scoping Review and Policy Mapping in Germany, France, Netherlands, United Kingdom, Slovakia, Poland, and Romania. Autism Res. 2020.

The low employment rates of persons with Autism Spectrum Conditions in the European Union (EU) are partly due to discrimination. Member States have taken different approaches to increase the employment rate in the recent decades, including quota and anti-discrimination legislation, however, the implications for people with autism are unknown. The purpose of this scoping review was to provide a comprehensive overview of the history of these employment policies, from seven EU Member States (Germany, France, the Netherlands, the United Kingdom [prior to exit], Slovakia, Poland, and Romania), exploring the interdependence on international and EU policies, using a path dependency analysis. The results indicate that internationally a shift in focus has taken place in the direction of anti-discrimination law, though employment quotas remained in place in six out of the seven Member States as a means to address employment of people with disability in combination with the new anti-discrimination laws. LAY SUMMARY : Discrimination is partially responsible for the low employment of people with autism. Several approaches have been taken in recent years, such as anti-discrimination laws and setting a mandatory number of people with disabilities that need to be employed. This study finds that, internationally and in the European Union, the focus was initially on the use of quotas and gradually moved to anti-discrimination, with both being used simultaneously.

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3. Smith ZZ, Kubiak RA, Arnold MR, Loupy KM, Taylor JA, Crist TG, Bernier AE, D’Angelo HM, Heinze JD, Lowry CA, Barth DS. Effects of immunization with heat-killed Mycobacterium vaccae on autism spectrum disorder-like behavior and epileptogenesis in a rat model of comorbid autism and epilepsy. Brain, behavior, and immunity. 2020.

Autism spectrum disorders (ASDs) and epilepsy are often comorbid. The basis for this co-occurrence remains unknown ; however, inflammatory stressors during development are a shared risk factor. To explore this association, we tested the effect of repeated immunizations using a heat-killed preparation of the stress-protective immunoregulatory microbe Mycobacterium vaccae NCTC 11,659 (M. vaccae) on the behavioral and epileptogenic consequences of the combined stress-terbutaline (ST) rat model of ASD-like behavior/epilepsy. Repeated immunization of the dam with M. vaccae during pregnancy, followed by immunization of the pups after terbutaline injections, prevented the expression of ASD-like behavior but did not appear to protect against, and may have even enhanced, the spontaneous epileptogenic effects of ST. Maternal M. vaccae injections transferred an anti-inflammatory immunophenotype to offspring, and repeated injections across development prevented ST-induced increases in microglial density at early developmental time points in a region-specific manner. Despite epidemiological comorbidity between ASD/epileptic conditions and shared environmental risk factors, our results suggest that the expression of ASD-like behaviors, but perhaps not epileptogenesis, is sensitive to early anti-inflammatory intervention. These data provide support for the exploration of immunoregulatory strategies to prevent the negative neurodevelopmental behavioral effects of stressors during early critical periods.

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4. Lacivita E, Niso M, Stama ML, Arzuaga A, Altamura C, Costa L, Desaphy JF, Ragozzino ME, Ciranna L, Leopoldo M. Privileged scaffold-based design to identify a novel drug-like 5-HT(7) receptor-preferring agonist to target Fragile X syndrome. European journal of medicinal chemistry. 2020 ; 199 : 112395.

Recent preclinical studies have shown that activation of the serotonin 5-HT(7) receptor has the potential to treat neurodevelopmental disorders such as Fragile X syndrome, a rare disease characterized by autistic features. With the aim to provide the scientific community with diversified drug-like 5-HT(7) receptor-preferring agonists, we designed a set of new long-chain arylpiperazines by exploiting structural fragments present in clinically approved drugs or in preclinical candidates (privileged scaffolds). The new compounds were synthesized, tested for their affinity at 5-HT(7) and 5-HT(1A) receptors, and screened for their in vitro stability to microsomal degradation and toxicity. Selected compounds were characterized as 5-HT(7) receptor-preferring ligands, endowed with high metabolic stability and low toxicity. Compound 7g emerged as a drug-like 5-HT(7) receptor-preferring agonist capable to rescue synaptic plasticity and attenuate stereotyped behavior in a mouse model of Fragile X syndrome.

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5. Zou R, Wang Y, Duan M, Guo M, Zhang Q, Zheng H. Dysbiosis of Gut Fungal Microbiota in Children with Autism Spectrum Disorders. J Autism Dev Disord. 2020.

In this study, we tested the feces of children with ASD and those of healthy children, and the overall changing of the gut fungal community was observed in ASD children compared with controls. However, there were no abundant fungi populations showed significant variations between the ASD and Control group both at phylum and class level. Among the 507 genera identified, Saccharomyces and Aspergillus showed significant differences between ASD (59.07%) and Control (40.36%), indicating that they may be involved in the abnormal gut fungal community structure of ASD. When analyzed at the species level, a decreased abundance in Aspergillus versicolor was observed while Saccharomyces cerevisiae was increased in children with ASD relative to controls. Overall, this study characterized the fungal microbiota profile of children with ASD and identified potential diagnostic species closely related to the immune response in ASD.

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6. Kshatri A, Cerrada A, Gimeno R, Bartolomé-Martín D, Rojas P, Giraldez T. Correction : Differential regulation of BK channels by fragile X mental retardation protein. The Journal of general physiology. 2020 ; 152(6).

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7. Benincá C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, A JR, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, ML SFS, RL RdS, Fernandez-Vizarra E, A JW, Zeviani M. Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. Journal of medical genetics. 2020.

BACKGROUND : Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known as the ’mitoskeleton’ due to its role in maintaining IMM architecture. APOO encodes MIC26, a component of MICOS, whose exact function in its maintenance or assembly has still not been completely elucidated. METHODS : We have studied a family in which the most affected subject presented progressive developmental delay, lactic acidosis, muscle weakness, hypotonia, weight loss, gastrointestinal and body temperature dysautonomia, repetitive infections, cognitive impairment and autistic behaviour. Other family members showed variable phenotype presentation. Whole exome sequencing was used to screen for pathological variants. Patient-derived skin fibroblasts were used to confirm the pathogenicity of the variant found in APOO. Knockout models in Drosophila melanogaster and Saccharomyces cerevisiae were employed to validate MIC26 involvement in MICOS assembly and mitochondrial function. RESULTS : A likely pathogenic c.350T>C transition was found in APOO predicting an I117T substitution in MIC26. The mutation caused impaired processing of the protein during import and faulty insertion into the IMM. This was associated with altered MICOS assembly and cristae junction disruption. The corresponding mutation in MIC26 or complete loss was associated with mitochondrial structural and functional deficiencies in yeast and D. melanogaster models. CONCLUSION : This is the first case of pathogenic mutation in APOO, causing altered MICOS assembly and neuromuscular impairment. MIC26 is involved in the assembly or stability of MICOS in humans, yeast and flies.

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8. Parameswaran R, Pathik B, Morton JB. Atrial Arrhythmias in Patients With an ASD : Where to From Here ?. JACC Clinical electrophysiology. 2020 ; 6(5) : 549-51.

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9. Huang F, Tan EL, Yang P, Huang S, Ou-Yang L, Cao J, Wang T, Lei B. Self-weighted adaptive structure learning for ASD diagnosis via multi-template multi-center representation. Medical image analysis. 2020 ; 63 : 101662.

As a kind of neurodevelopmental disease, autism spectrum disorder (ASD) can cause severe social, communication, interaction, and behavioral challenges. To date, many imaging-based machine learning techniques have been proposed to address ASD diagnosis issues. However, most of these techniques are restricted to a single template or dataset from one imaging center. In this paper, we propose a novel multi-template multi-center ensemble classification scheme for automatic ASD diagnosis. Specifically, based on different pre-defined templates, we construct multiple functional connectivity (FC) brain networks for each subject based on our proposed Pearson’s correlation-based sparse low-rank representation. After extracting features from these FC networks, informative features to learn optimal similarity matrix are then selected by our self-weighted adaptive structure learning (SASL) model. For each template, the SASL method automatically assigns an optimal weight learned from the structural information without additional weights and parameters. Finally, an ensemble strategy based on the multi- template multi-center representations is applied to derive the final diagnosis results. Extensive experiments are conducted on the publicly available Autism Brain Imaging Data Exchange (ABIDE) database to demonstrate the efficacy of our proposed method. Experimental results verify that our proposed method boosts ASD diagnosis performance and outperforms state-of-the-art methods.

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10. Carroll L, Braeutigam S, Dawes JM, Krsnik Z, Kostovic I, Coutinho E, Dewing JM, Horton CA, Gomez-Nicola D, Menassa DA. Autism Spectrum Disorders : Multiple Routes to, and Multiple Consequences of, Abnormal Synaptic Function and Connectivity. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. 2020 : 1073858420921378.

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders of genetic and environmental etiologies. Some ASD cases are syndromic : associated with clinically defined patterns of somatic abnormalities and a neurobehavioral phenotype (e.g., Fragile X syndrome). Many cases, however, are idiopathic or non-syndromic. Such disorders present themselves during the early postnatal period when language, speech, and personality start to develop. ASDs manifest by deficits in social communication and interaction, restricted and repetitive patterns of behavior across multiple contexts, sensory abnormalities across multiple modalities and comorbidities, such as epilepsy among many others. ASDs are disorders of connectivity, as synaptic dysfunction is common to both syndromic and idiopathic forms. While multiple theories have been proposed, particularly in idiopathic ASDs, none address why certain brain areas (e.g., frontotemporal) appear more vulnerable than others or identify factors that may affect phenotypic specificity. In this hypothesis article, we identify possible routes leading to, and the consequences of, altered connectivity and review the evidence of central and peripheral synaptic dysfunction in ASDs. We postulate that phenotypic specificity could arise from aberrant experience-dependent plasticity mechanisms in frontal brain areas and peripheral sensory networks and propose why the vulnerability of these areas could be part of a model to unify preexisting pathophysiological theories.

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11. Morimoto M, Hashimoto T, Tsuda Y, Nakatsu T, Kitaoka T, Kyotani S. Assessment of oxidative stress in autism spectrum disorder using reactive oxygen metabolites and biological antioxidant potential. PLoS One. 2020 ; 15(5) : e0233550.

There are several studies on oxidative stress of Autism Spectrum Disorder (ASD), but in these cases there is no study to measure oxidative stress and antioxidant capacity at the same time or studies considering childhood development. Therefore, this study comprehensively assessed the level of oxidative stress in ASD children by simultaneously measuring reactive oxygen metabolites (d-ROMs) and biological antioxidant potential (BAP). The subjects were Japanese, 77 typical development (TD) children, 98 ASD children, samples were plasma. The subjects were divided into age groups : toddlers/preschool age (2-6 years) and school age (7-15 years), to compare the relationships among the d-ROMs levels and BAP/d-ROMs ratios. Furthermore, the correlations between the Parent-interview ASD Rating Scales (PARS) scores and the measured values were analyzed. The levels of d-ROMs were significantly higher in the ASD (7-15 years) than in TD (7-15 years). The PARS scores were significantly higher in the ASD and were significantly correlated with d-ROMs levels. These results suggested that d-ROMs and BAP/d-ROMs ratios could be objective, measured indicators that could be used in clinical practice to assess stress in ASD children.

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12. Casanova MF, Sokhadze EM, Casanova EL, Opris I, Abujadi C, Marcolin MA, Li X. Translational Neuroscience in Autism : From Neuropathology to Transcranial Magnetic Stimulation Therapies. The Psychiatric clinics of North America. 2020 ; 43(2) : 229-48.

The presence of heterotopias, increased regional density of neurons at the gray-white matter junction, and focal cortical dysplasias all suggest an abnormality of neuronal migration in autism spectrum disorder (ASD). The abnormality is borne from a dissonance in timing between radial and tangentially migrating neuroblasts to the developing cortical plate. The uncoupling of excitatory and inhibitory cortical cells disturbs the coordinated interactions of neurons within local networks, thus providing abnormal patterns of brainwave activity in the gamma bandwidth. In ASD, gamma oscillation abnormalities and autonomic markers offer measures of therapeutic progress and help in the identification of subgroups.

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13. Martinez AP, Wickham S, Rowse G, Milne E, Bentall RP. Robust association between autistic traits and psychotic-like experiences in the adult general population : epidemiological study from the 2007 Adult Psychiatric Morbidity Survey and replication with the 2014 APMS. Psychological medicine. 2020 : 1-7.

BACKGROUND : Studies have shown that there are overlapping traits and symptoms between autism and psychosis but no study to date has addressed this association from an epidemiological approach in the adult general population. Furthermore, it is not clear whether autistic traits are associated with specific symptoms of psychosis or with psychosis in general. We assess these associations for the first time by using the Adult Psychiatric Morbidity Survey (APMS) 2007 and the APMS 2014, predicting an association between autistic traits and probable psychosis, and specific associations between autistic traits and paranoia and strange experiences. METHODS : Participants (N = 7353 in 2007 and 7500 in 2014) completed the Psychosis Screening Questionnaire (PSQ) and a 20-item version of the Autism Quotient (AQ-20). Binomial logistic regressions were performed using AQ-20 as the independent variable and probable psychosis and specific symptoms as dependent variables. RESULTS : In the APMS 2007 dataset, significant associations were found between autism traits and probable psychosis, paranoia, thought insertion, and strange experiences. These results were replicated in APMS 2014 but with the additional significant association between autistic traits and hallucinations. Participants in the highest quartile of the AQ-20, compared with the lowest quartile, had an increased risk of probable psychosis of odds ratio (OR) = 15.5 [95% confidence interval (CI) 4.57-52.6] in APMS 2007 and OR = 22.5 (95% CI 7.64-66.3) in APMS 2014. CONCLUSIONS : Autistic traits are strongly associated with probable psychosis and psychotic experiences with the exception of mania. Limitations such as the cross-sectional nature of the study are discussed.

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14. Feldman JI, Dunham K, Conrad JG, Simon DM, Cassidy M, Liu Y, Tu A, Broderick N, Wallace MT, Woynaroski TG. Plasticity of Temporal Binding in Children with Autism Spectrum Disorder:A Single Case Experimental Design Perceptual Training Study. Res Autism Spectr Disord. 2020 ; 74.

BACKGROUND : Many children with autism spectrum disorder (ASD) demonstrate atypical responses to multisensory stimuli. These disruptions, which are frequently seen in response to audiovisual speech, may produce cascading effects on the broader development of children with ASD. Perceptual training has been shown to enhance multisensory speech perception in typically developed adults. This study was the first to examine the effects of perceptual training on audiovisual speech perception in children with ASD. METHOD : A multiple baseline across participants design was utilized with four 7- to 13-year-old children with ASD. The dependent variable, which was probed outside the training task each day using a simultaneity judgment task in baseline, intervention, and maintenance conditions, was audiovisual temporal binding window (TBW), an index of multisensory temporal acuity. During perceptual training, participants completed the same simultaneity judgment task with feedback on their accuracy after each trial in easy-, medium-, and hard-difficulty blocks. RESULTS : A functional relation between the multisensory perceptual training program and TBW size was not observed. Of the three participants who were entered into training, one participant demonstrated a strong effect, characterized by a fairly immediate change in TBW trend. The two remaining participants demonstrated a less clear response (i.e., longer latency to effect, lack of functional independence). The first participant to enter the training condition demonstrated some maintenance of a narrower TBW post-training. CONCLUSIONS : Results indicate TBWs in children with ASD may be malleable, but additional research is needed and may entail further adaptation to the multisensory perceptual training paradigm.

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15. Cardillo R, Vio C, Mammarella IC. A comparison of local-global visuospatial processing in autism spectrum disorder, nonverbal learning disability, ADHD and typical development. Res Dev Disabil. 2020 ; 103 : 103682.

BACKGROUND : Research on visuospatial functioning has revealed cognitive challenges for children with autism spectrum disorder (ASD), nonverbal learning disability (NLD) and attention deficit hyperactivity disorder (ADHD). These disorders are characterized by some overlapping symptoms, making their diagnosis a challenge. AIMS : The study aims to clarify the role of visuospatial abilities in their neuropsychological profiles by investigating different visuospatial domains and their interplay with the local-global processing. METHOD AND PROCEDURES : Participants (N = 150) with ASD, NLD, or ADHD were compared with typically-developing (TD) children on visuospatial processing speed, visuo-perceptual abilities, visuo-constructive abilities, and visuospatial working memory. Generalized mixed-effects models were performed and receiver operating characteristic curves were estimated to express the usefulness of a local-global processing index in discriminating groups. OUTCOMES AND RESULTS : The NLD group was impaired in all domains ; children with ADHD revealed a heterogeneous profile, with greater impairments in visuospatial processing speed ; ASD and TD groups were comparable. The local-global processing index had predictive power in discriminating among groups in visuo-constructive task. CONCLUSIONS AND IMPLICATIONS : The study of visuospatial abilities of children with ASD, NLD and ADHD might help to understand strengths and weaknesses in their neuropsychological profile and to differentiate between them. Clinical implications of these findings are discussed.

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16. Matyjek M, Bayer M, Dziobek I. Autistic Traits Affect Reward Anticipation but not Reception. Sci Rep. 2020 ; 10(1) : 8396.

Autism spectrum conditions (ASC) have been linked to aberrant reward processing, but it remains unclear whether it is a general dysfunction or limited to social stimuli, and whether it affects both phases of reward processing, namely anticipation and reception. We used event-related brain potentials and a population-based approach to investigate reward anticipation and reception to socially relevant (i.e., picture of experimenter’s face showing approval/disapproval) and monetary rewards in 51 neurotypical individuals with varying levels of autistic traits. Higher autistic traits were associated with enhanced reward anticipation across reward types in the early anticipation phase (triggered by incentive cues), but not in the late anticipation phase (directly before reward reception), as reflected by the CNV component. The P3 component in response to reward reception showed a general increase for monetary outcomes, which was not modulated by autistic traits. These results suggest that higher autistic traits are related to enhanced reward anticipation, but do not modulate reward reception. No interaction between reward types and autistic traits was observed. We propose that the relevance of social rewards had higher reward value than commonly used pictures of strangers, which specifically normalised responses for individuals with high autistic traits.

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