Pubmed du 03/08/20

lundi 3 août 2020

1. Aman MG, Norris M, Kaat AJ, Andrews H, Choo TH, Chen C, Wheeler A, Bann C, Erickson C. Factor Structure of the Aberrant Behavior Checklist in Individuals with Fragile X Syndrome : Clarifications and Future Guidance. J Child Adolesc Psychopharmacol ;2020 (Aug 3)

Objective : The Aberrant Behavior Checklist (ABC) is a standardized rating scale used for assessing problematic behavior of individuals with developmental disabilities. It has five subscales : Irritability, Social Withdrawal, Stereotypic Behavior, Hyperactivity, and Inappropriate Speech. A previous study in individuals with fragile X syndrome (FXS) reported six factors, with the Social Withdrawal factor bifurcating into Socially Unresponsive and Social Avoidance factors, suggesting a different factor structure in people with FXS. Methods : We assessed the ABC’s factor structure (with both exploratory and confirmatory analyses) in 797 people with FXS and we compared these findings with exploratory factors derived from an independent sample of 357 individuals with FXS. In an ancillary analysis, we compared the overlap of the traditional ABC’s Social Withdrawal scores with the Social Avoidance scores from the FXS-derived newer scale to determine whether overlap between these was very high and essentially redundant. Finally, we computed norms using both the traditional and the FXS-specific algorithms. Results : In confirmatory factor analyses, the FXS-specific algorithm produced the most consistent factor structure for the sample of 797 participants, but model fit was only marginally better than that derived by the original ABC scoring algorithm. Comparisons of factor structures from separate exploratory analyses revealed no consistent advantage of the FXS algorithm over the traditional algorithm. While a Social Avoidance subscale did emerge in some analyses, in other analyses, this was accompanied by loss of coherence on other domains of interest, such as the Socially Unresponsive/Social Withdrawal subscale. Conclusion : We question whether the newer FXS scoring algorithm contributes data that are consistently helpful in evaluating behavior of people with FXS. In general, we recommend continued use of the original ABC algorithm for scoring behavior of clients with FXS. However, we acknowledge that there may be circumscribed times when the new algorithm may be appropriate for scoring, namely when anxiety and/or social avoidance constructs are the central and unequivocal domains of interest.

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2. de Castilho LS, Lages FDS, Ferreira RVD, de Oliveira ACB, Vilaça Ê L, Diniz IMA. Breathing problems and COVID-19 in patients with developmental disabilities. Spec Care Dentist ;2020 (Aug 3)

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3. Dutheil F, Bourdel N, Comptour A. The Coronavirus Might be Paradoxically Beneficial on the Risk of Autism. J Autism Dev Disord ;2020 (Aug 3):1-3.

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4. Kallitsounaki A, Williams DM, Lind SE. Links Between Autistic Traits, Feelings of Gender Dysphoria, and Mentalising Ability : Replication and Extension of Previous Findings from the General Population. J Autism Dev Disord ;2020 (Aug 1)

Gender nonconformity is substantially elevated in the autistic population, but the reasons for this are currently unclear. In a recent study, Kallitsounaki and Williams (Kallitsounaki and Williams, Journal of Autism and Developmental Disorders, 2020 ; authors 1 and 2 of the current paper) found significant relations between autistic traits and both gender dysphoric feelings and recalled cross-gender behaviour, and between mentalising ability and gender dysphoric feelings. The current study successfully replicated these findings (results were supplemented with Bayesian analyses), in sample of 126 adults. Furthermore, it extended the previous finding of the role of mentalising in the relation between autistic traits and gender dysphoric feelings, by showing that mentalising fully mediated this link. Results provide a potential partial explanation for the increased rate of gender nonconformity in the autistic population.

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5. Keogh C, Pini G, Gemo I, Kaufmann WE, Tropea D. Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome. Brain Sci ;2020 (Aug 3) ;10(8)

Rett Syndrome (RTT) is a neurodevelopmental disorder associated with mutations in the gene MeCP2, which is involved in the development and function of cortical networks. The clinical presentation of RTT is generally severe and includes developmental regression and marked neurologic impairment. Insulin-Like growth factor 1 (IGF1) ameliorates RTT-relevant phenotypes in animal models and improves some clinical manifestations in early human trials. However, it remains unclear whether IGF1 treatment has an impact on cortical electrophysiology in line with MeCP2’s role in network formation, and whether these electrophysiological changes are related to clinical response. We performed clinical assessments and resting-state electroencephalogram (EEG) recordings in eighteen patients with classic RTT, nine of whom were treated with IGF1. Among the treated patients, we distinguished those who showed improvements after treatment (responders) from those who did not show any changes (nonresponders). Clinical assessments were carried out for all individuals with RTT at baseline and 12 months after treatment. Network measures were derived using statistical modelling techniques based on interelectrode coherence measures. We found significant interaction between treatment groups and timepoints, indicating an effect of IGF1 on network measures. We also found a significant effect of responder status and timepoint, indicating that these changes in network measures are associated with clinical response to treatment. Further, we found baseline variability in network characteristics, and a machine learning model using these measures applied to pretreatment data predicted treatment response with 100% accuracy (100% sensitivity and 100% specificity) in this small patient group. These results highlight the importance of network pathology in RTT, as well as providing preliminary evidence for the potential of network measures as tools for the characterisation of disease subtypes and as biomarkers for clinical trials.

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6. Matoba N, Liang D, Sun H, Aygün N, McAfee JC, Davis JE, Raffield LM, Qian H, Piven J, Li Y, Kosuri S, Won H, Stein JL. Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. Transl Psychiatry ;2020 (Aug 3) ;10(1):265.

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large genetically informative cohorts of individuals with ASD have led to the identification of a limited number of common genome-wide significant (GWS) risk loci to date. However, many more common genetic variants are expected to contribute to ASD risk given the high heritability. Here, we performed a genome-wide association study (GWAS) on 6222 case-pseudocontrol pairs from the Simons Foundation Powering Autism Research for Knowledge (SPARK) dataset to identify additional common genetic risk factors and molecular mechanisms underlying risk for ASD. We identified one novel GWS locus from the SPARK GWAS and four significant loci, including an additional novel locus from meta-analysis with a previous GWAS. We replicated the previous observation of significant enrichment of ASD heritability within regulatory regions of the developing cortex, indicating that disruption of gene regulation during neurodevelopment is critical for ASD risk. We further employed a massively parallel reporter assay (MPRA) and identified a putative causal variant at the novel locus from SPARK GWAS with strong impacts on gene regulation (rs7001340). Expression quantitative trait loci data demonstrated an association between the risk allele and decreased expression of DDHD2 (DDHD domain containing 2) in both adult and prenatal brains. In conclusion, by integrating genetic association data with multi-omic gene regulatory annotations and experimental validation, we fine-mapped a causal risk variant and demonstrated that DDHD2 is a novel gene associated with ASD risk.

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7. Mazza M, Pino MC, Vagnetti R, Filocamo A, Attanasio M, Calvarese A, Valenti M. Intensive intervention for adolescents with autism spectrum disorder : comparison of three rehabilitation treatments. Int J Psychiatry Clin Pract ;2020 (Aug 3):1-9.

INTRODUCTION : Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental conditions, characterised by difficulties in social communication and restricted, repetitive behaviours and interests. There are several rehabilitative interventions for individuals with ASD but the evidence of their effectiveness is low or moderate overall. The transition phase of ASD individuals from adolescence to adulthood represents an important challenge. Adults with ASD struggle to access employment or independent living. METHODS : In our study, we evaluated the effect of three different high-intensity interventions, namely Applied Behaviour Analysis (ABA), Treatment and Education of Autistic and Communication-Handicapped Children (TEACCH) and Behavioural Educational Intervention (BEI), in 93 ASD (levels 2 and 3) adolescents (age range 12-18 years). RESULTS : Our results showed that all adolescents with ASD reported an improvement of core symptoms, regardless of the type of treatment. CONCLUSIONS : A high intensity intervention ameliorates the core symptoms of ASD, enriching evidence of effectiveness regarding adolescents with ASD. KEY POINTS Individuals with ASD need lifespan support and they struggle to access employment, independent living and community inclusion. There are several rehabilitative interventions for individuals with ASD but the evidence of their effectiveness in adolescents is insufficient. The main purpose of this study was to evaluate the possible enhancement produced by three intensive interventions (ABA, TEACCH, BEI) of symptom severity and adaptive functions. Results show that independently of the treatment, individuals with ASD decrease in ASD severity. Individuals who were treated with the BEI and TEACCH programmes reported improvements in the adaptive domains.

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8. Meyyazhagan A, Balasubramanian B, Easwaran M, Alagamuthu KK, Shanmugam S, Kuchi Bhotla H, Pappusamy M, Arumugam VA, Thangaraj A, Kaul T, Keshavarao S, Cacabelos R. Biomarker study of the biological parameter and neurotransmitter levels in autistics. Mol Cell Biochem ;2020 (Aug 1)

Autism is a prevalent developmental disorder that combines repetitive behaviours, social deficits and language abnormalities. The present study aims to assess the autistic subjects using DSM IV-TR criteria followed with the analysis of neurotransmitters, biochemical parameters, oxidative stress and its ions in two groups of autistic subjects (group I < 12 years ; group II ≥ 12 years). Antioxidants show a variation of 10% increase in controls compared to autistic age < 12 years. The concentration of pyruvate kinase and hexokinase is elevated in controls approximately 60% and 45%, respectively, with the significance of 95 and 99%. Autistic subjects showed marked variation in levels of neurotransmitters, oxidative stress and its related ions. Cumulative assessment of parameters related to biochemical markers and neurotransmitters paves the way for autism-based research, although these observations draw interest in an integrated approach for autism.

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9. Mordeno IG, Gallemit I, Ferolino MAL, Sinday JV. DSM-5-Based ASD Models : Assessing the Latent Structural Relations with Functionality in War-Exposed Individuals. Psychiatr Q ;2020 (Aug 3)

There is a dearth of studies investigating the latent structure of Acute Stress Disorder (ASD) following the changes in the fifth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-5). To date, there is no consensus on the best representation of ASD. This study addressed this gap by examining four latent ASD models in a sample of war-exposed individuals (N = 424). Investigation on the relationship of the best-fitting model to functionality in the latent level was also conducted. The five-factor model, composed of intrusion, avoidance, numbing, dysphoric arousal, and anxious arousal factors, yielded the best-fitting model. Latent associations between the factors of the model and functionality suggest that symptoms of functionality do not significantly affect the factor structure of ASD. These findings have implications for understanding the underlying mechanism of ASD and can inform the development of more nuanced trauma-related interventions, particularly addressing ASD symptoms and functionality separately.

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10. Murillo E, Camacho L, Montero I. Multimodal Communication in Children with Autism Spectrum Disorder and Different Linguistic Development. J Autism Dev Disord ;2020 (Aug 3)

This study focuses on the multimodal communication of children with autism spectrum disorders (ASD) compared to typically developing (TD) children. Eleven children with ASD (aged from 28 to 79 months) and 11 TD children (from 12 to 30 months) were matched by their productive vocabulary. We observed their communicative production in a semi-structured play situation. Results showed no differences in the combinations of gestural and vocal elements between children with ASD and TD. By contrast, regarding the production of the three-element multimodal combinations, we found a different pattern between ASD and TD children depending on their lexical development. These results provide clues to understand some controversial findings regarding multimodal production of people with ASD described in the literature.

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11. Solmaz V, Tekatas A, Erdoğan MA, Erbaş O. Exenatide, a GLP-1 analog, has healing effects on LPS-induced autism model : Inflammation, oxidative stress, gliosis, cerebral GABA, and serotonin interactions. Int J Dev Neurosci ;2020 (Aug 3)

Previous studies have established anti-inflammatory, antioxidant, and neuroprotective effects of Exenatide in the central nervous system. Since these mechanisms are thought to have important roles in the pathophysiology of autism, we hypothesized that Exenatide may have healing effects in autism. We tested this hypothesis by examining the effects of Exenatide in an experimental autism model created by lipopolysaccharide (LPS) exposure in the womb, with behavioral tests, histopathological examinations, and biochemical measurements. The autism model was created by administration of LPS (i.p) to pregnant rats on the 10th day of their pregnancy at a dose of 100 µg/kg. On postnatal 21st day, a total of four groups were formed from offspring with regard to sex distribution and treatment. After a 45-day treatment, behavioral analysis tests were performed on rats. Subsequently, the rats were sacrificed and biochemical analysis [superoxide dismutase, tumor necrotizing factor alpha, nerve growth factor, 5-hydroxyindoleacetic acid, and glutamic acid decarboxylase-67] and histopathological analysis were performed. On the 10th day of the intrauterine period, LPS exposure was found to disrupt behavioral findings, increase inflammation and hippocampal gliosis, and decrease 5-HIAA, GAD-67, and NGF, especially in male rats. However, among the rats exposed to LPS in the intrauterine period, recipients of Exenatide demonstrated significant amelioration of findings. Exenatide therapy shows positive effects on behavioral disorders in an LPS-induced autism model. This agent probably exerts its effects by suppressing inflammation and oxidative stress and reducing hippocampal gliosis. In addition, Exenatide has also been shown to positively affect cerebral serotonergic and GABAergic effects.

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12. Sourvinos S, Mavropoulos A, Kasselimis DS, Korasidi A, Voukouni AL, Papadopoulos P, Vlaseros S, Damianos G, Potagas C, Damianos D. Brief Report : Speech and Language Therapy in Children with ASD in an Aquatic Environment : the ASLT (Aquatic Speech and Language Therapy) Program. J Autism Dev Disord ;2020 (Aug 3)

Although water-based approaches have been shown to be beneficial for children with Autism Spectrum Disorder (ASD), no study thus far has directly investigated the effects of such intervention programs on language skills. The present study aims to evaluate the efficacy of the Aquatic Speech and Language Therapy (ASLT) program, which is a new, exclusively aquatic intervention program designed especially for children with ASD. The effects of ASLT were compared to the outcome of a similar classroom-based intervention, in two groups of children with ASD matched for age, gender, and expressive/receptive vocabulary. Our findings show that ASLT results in significantly greater improvement of vocabulary measures, thus providing direct evidence of water-based intervention’s beneficial effects on language skills in ASD.

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13. Usui N, Iwata K, Miyachi T, Takagai S, Wakusawa K, Nara T, Tsuchiya KJ, Matsumoto K, Kurita D, Kameno Y, Wakuda T, Takebayashi K, Iwata Y, Fujioka T, Hirai T, Toyoshima M, Ohnishi T, Toyota T, Maekawa M, Yoshikawa T, Maekawa M, Nakamura K, Tsujii M, Sugiyama T, Mori N, Matsuzaki H. VLDL-specific increases of fatty acids in autism spectrum disorder correlate with social interaction. EBioMedicine ;2020 (Jul 30) ;58:102917.

BACKGROUND : Abnormalities of lipid metabolism contributing to the autism spectrum disorder (ASD) pathogenesis have been suggested, but the mechanisms are not fully understood. We aimed to characterize the lipid metabolism in ASD and to explore a biomarker for clinical evaluation. METHODS : An age-matched case-control study was designed. Lipidomics was conducted using the plasma samples from 30 children with ASD compared to 30 typical developmental control (TD) children. Large-scale lipoprotein analyses were also conducted using the serum samples from 152 children with ASD compared to 122 TD children. Data comparing ASD to TD subjects were evaluated using univariate (Mann-Whitney test) and multivariate analyses (conditional logistic regression analysis) for main analyses using cofounders (diagnosis, sex, age, height, weight, and BMI), Spearman rank correlation coefficient, and discriminant analyses. FINDINGS : Forty-eight significant metabolites involved in lipid biosynthesis and metabolism, oxidative stress, and synaptic function were identified in the plasma of ASD children by lipidomics. Among these, increased fatty acids (FAs), such as omega-3 (n-3) and omega-6 (n-6), showed correlations with clinical social interaction score and ASD diagnosis. Specific reductions of very-low-density lipoprotein (VLDL) and apoprotein B (APOB) in serum of ASD children also were found by large-scale lipoprotein analysis. VLDL-specific reduction in ASD was correlated with APOB, indicating VLDL-specific dyslipidaemia associated with APOB in ASD children. INTERPRETATION : Our results demonstrated that the increases in FAs correlated positively with social interaction are due to VLDL-specific degradation, providing novel insights into the lipid metabolism underlying ASD pathophysiology. FUNDING : This study was supported mainly by MEXT, Japan.

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14. van Kessel R, Steinhoff P, Varga O, Breznoščáková D, Czabanowska K, Brayne C, Baron-Cohen S, Roman-Urrestarazu A. Autism and education-Teacher policy in Europe : Policy mapping of Austria, Hungary, Slovakia and Czech Republic. Res Dev Disabil ;2020 (Aug 3) ;105:103734.

BACKGROUND : This report maps autism and special education needs (SEN) policies, alongside teacher responsibilities in the education of children with SEN in Austria, Hungary, Czech Republic, and Slovakia. METHODS AND PROCEDURE : A policy path analysis using a scoping review as an underlying methodological framework was performed. OUTCOMES AND RESULTS : The end of communism and accession to the European Union were critical for the countries under study. They passed crucial policies after international policies and adopted a three-stream approach towards providing education : (1) special schools ; (2) special classes in mainstream schools ; or (3) mainstream classes. Special schools remain for children that cannot participate in mainstream schools. Teachers are given high levels of responsibility. CONCLUSION AND IMPLICATIONS : Changes in international guidance greatly impacted Austria, Hungary, Slovakia and the Czech Republic. The education systems aim for inclusion, though segregation remains for children that cannot thrive in mainstream schools. Teachers are pivotal in the education of children with SEN, more so than with typical children.

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15. Wang X, Kohl A, Yu X, Zorio DAR, Klar A, Sela-Donenfeld D, Wang Y. Temporal-specific roles of Fragile X mental retardation protein in the development of hindbrain auditory circuit. Development ;2020 (Aug 3)

Fragile X mental retardation protein (FMRP) is an RNA-binding protein abundant in the nervous system. Functional loss of FMRP leads to sensory dysfunction and severe intellectual disabilities. In the auditory system, FMRP deficiency alters neuronal function and synaptic connectivity and results in perturbed processing of sound information. Nevertheless, roles of FMRP in embryonic development of the auditory hindbrain have not been identified. Here, we developed high-specificity approaches to genetically track and manipulate throughout development the Atho1(+) neuronal cell type, which is highly conserved in vertebrates, in the cochlear nucleus of chicken embryos. We identified distinct FMRP-containing granules in the growing axons of Atho1(+) neurons and post-migrating NM cells. FMRP downregulation via Crispr/Cas9 and shRNA techniques resulted in perturbed axonal pathfinding, delay in midline crossing, excess branching of neurites, and axonal targeting errors during the period of circuit development. Together, these results provide the first in vivo identification of FMRP localization and actions in developing axons of auditory neurons, and demonstrate the importance of investigating early embryonic alterations toward understanding the pathogenesis of neurodevelopmental disorders.

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16. Yu Y, Wang X, Yang J, Qiu J. The role of the MTG in negative emotional processing in young adults with autistic-like traits : A fMRI task study. J Affect Disord ;2020 (Jul 14) ;276:890-897.

BACKGROUND : Few previous studies explored negative emotion processing in autistic-like traits people using task-based fMRI. In this study, we applied task fMRI to determine the relationship between negative emotion processing and social skill within autistic-like traits people. aimed to find which brain areas specificity play a key role in emotional processing. METHODS : 106 of Chinese individuals measured with AQ. Then applied emotion regulation task to explore the difference in brain activation and functional connectivity in individuals with autistic traits. RESULTS : The results showed increased activation in the right middle temporal gyrus (MTG). The mediation analysis showed the right MTG mediates the relationship between autistic-like traits and negative emotion. Generalized psychophysiological interaction (gPPI) analysis also suggested that the right MTG shows significant functional connectivity with the left parahippocampal gyrus (PHG) and left precuneus cortex. LIMITATIONS : Our sample are university students, there may have a bias in the sample compared to sub-average and have no differences between the gender, we will broaden the sample size and take the gender into account. We use two conditions as our focused theme, we want to use a more specific task to explore negative emotion in autistic-like traits people. CONCLUSIONS : The results showed that the right MTG was an important brain region in individuals with autistic-like traits, and our study provides a wider discussion about autism brain activation and functional connectivity patterns and the use the MTG as a hallmark in individuals with autistic-like traits.

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17. Zukerman G, Yahav G, Ben-Itzchak E. The Gap Between Cognition and Adaptive Behavior in Students with Autism Spectrum Disorder : Implications for Social Anxiety and the Moderating Effect of Autism Traits. J Autism Dev Disord ;2020 (Aug 1)

The gap between cognitive ability and adaptive behavior has been thought to enhance psychopathology among people with autism, particularly among those without intellectual disability. We examined this association by exploring the gap between cognitive understanding of social behavior and socially adaptive behavior, and its impact on social anxiety symptoms, obsessive-compulsive symptoms, and depressive symptoms, among 53 university students with autism (without intellectual disability). A higher cognition-social adaptation discrepancy was associated with more social anxiety, but this effect was moderated by autistic trait (AT) levels ; a greater gap was associated with more avoidance symptoms of social anxiety only among students with high AT. Cognitive flexibility and prosocial behavior may mitigate the effects of AT. Potential implications and interventions are discussed.

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