Pubmed du 03/09/20

jeudi 3 septembre 2020

1. Lyall K, Windham GC, Snyder NW, Kuskovsky R, Xu P, Bostwick A, Robinson L, Newschaffer CJ. Mid-Pregnancy Polyunsaturated Fatty Acid Levels in Association with Child Autism Spectrum Disorder in a California Population-Based Case-Control Study. Am J Epidemiol ;2020 (Sep 2)

Polyunsaturated fatty acids (PUFAs) are critical for brain development and have been linked with neurodevelopmental outcomes. We conducted a population-based case control study in California to examine the association between PUFAs measured in mid-pregnancy serum samples and child autism spectrum disorder (ASD). ASD cases (n = 499) were identified through the Department of Developmental Services and matched to live-birth population controls (n = 502) on birth month, year (2010-2011), and sex. Crude and adjusted logistic regression models were used to examine associations. Secondary analyses examined ASD with and without co-occurring intellectual disability (ID ; n = 67 and 432 respectively), and effect modification by sex and ethnicity. No clear patterns emerged, though there was a modest inverse association with the top quartile of linoleic acid (highest versus lowest quartile, adjusted OR = 0.74, 95% CI : 0.49, 1.11 ; P for trend = 0.10). Lower levels of total and ω 3 PUFAs were associated with ASD with ID (lowest decile versus deciles 4-7, total PUFA adjusted OR = 2.78 95% CI : 1.13, 6.82) but not ASD without ID. We did not observe evidence of effect modification by factors examined. Findings do not suggest a strong association between mid-pregnancy PUFA levels and ASD. Further work should consider associations with ASD with ID and in other time windows.

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2. Chi IJ, Lin LY. Relationship Between the Performance of Self-Care and Visual Perception Among Young Children With Autism Spectrum Disorder and Typical Developing Children. Autism Res ;2020 (Sep 3)

Studies investigating the performance of self-care and visual perception in young children with autism spectrum disorder (ASD) are limited. The relationship between self-care performance and visual perception ability in young children with ASD is not yet clearly understood. Here, self-care performance was evaluated by the caregivers and therapists of children with ASD. The differences in self-care performance and visual perception ability were investigated in 66 children with ASD and 66 typically developing (TD) children between the ages of 48-83 months. The relationships between self-care and visual perception were tested in both two groups. The Assessment of Motor and Process Skills (AMPS) and the Chinese version of the Pediatric Evaluation of Disability Inventory (PEDI-C) were used to assess the children’s self-care performance. The Test of Visual Perceptual Skills-Third Edition (TVPS-3) and the Developmental Test of Visual Perception-Third Edition (DTVP-3) were used to evaluate visual perception ability. Young children with ASD obtained significantly lower scores for self-care performance (AMPS and PEDI-C) and visual perception ability (TVPS-3 and DTVP) compared with TD children. Additionally, positive correlations were found between self-care performance and visual perception ability in young children with ASD. The results provide a valuable contribution to our understanding about self-care and visual perception performance of young children with ASD. The findings of this research highlight the need for pediatric practitioners to include self-care and visual-motor integration evaluations for young children with ASD. LAY SUMMARY : Young children with ASD obtained significantly lower scores for self-care performance and visual perception ability compared with TD children. Positive correlations were found between self-care performance and visual perception ability in young children with ASD. The results provide a valuable contribution to our understanding about self-care and visual perception performance of young children with ASD.

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3. Knight EJ, Oakes L, Hyman SL, Freedman EG, Foxe JJ. Individuals With Autism Have No Detectable Deficit in Neural Markers of Prediction Error When Presented With Auditory Rhythms of Varied Temporal Complexity. Autism Res ;2020 (Sep 3)

The brain’s ability to encode temporal patterns and predict upcoming events is critical for speech perception and other aspects of social communication. Deficits in predictive coding may contribute to difficulties with social communication and overreliance on repetitive predictable environments in individuals with autism spectrum disorder (ASD). Using a mismatch negativity (MMN) task involving rhythmic tone sequences of varying complexity, we tested the hypotheses that (1) individuals with ASD have reduced MMN response to auditory stimuli that deviate in presentation timing from expected patterns, particularly as pattern complexity increases and (2) amplitude of MMN signal is inversely correlated with level of impairment in social communication and repetitive behaviors. Electroencephalography was acquired as individuals (age 6-21 years) listened to repeated five-rhythm tones that varied in the Shannon entropy of the rhythm across three conditions (zero, medium-1 bit, and high-2 bit entropy). The majority of the tones conformed to the established rhythm (standard tones) ; occasionally the fourth tone was temporally shifted relative to its expected time of occurrence (deviant tones). Social communication and repetitive behaviors were measured using the Social Responsiveness Scale and Repetitive Behavior Scale-Revised. Both neurotypical controls (n = 19) and individuals with ASD (n = 21) show stepwise decreases in MMN as a function of increasing entropy. Contrary to the result forecasted by a predictive coding hypothesis, individuals with ASD do not differ from controls in these neural mechanisms of prediction error to auditory rhythms of varied temporal complexity, and there is no relationship between these signals and social communication or repetitive behavior measures. LAY SUMMARY : We tested the idea that the brain’s ability to use previous experience to influence processing of sounds is weaker in individuals with autism spectrum disorder (ASD) than in neurotypical individuals. We found no difference between individuals with ASD and neurotypical controls in brain wave responses to sounds that occurred earlier than expected in either simple or complex rhythms. There was also no relationship between these brain waves and social communication or repetitive behavior scores.

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4. Schwartz S, Wang L, Shinn-Cunningham BG, Tager-Flusberg H. Atypical Perception of Sounds in Minimally and Low Verbal Children and Adolescents With Autism as Revealed by Behavioral and Neural Measures. Autism Res ;2020 (Sep 3)

The common display of atypical behavioral responses to sounds by individuals with autism (ASD) suggests that they process sounds differently. Within ASD, individuals who are minimally or low verbal (ASD-MLV) are suspected to have greater auditory processing impairments. However, it is unknown whether atypical auditory behaviors are related to receptive language and/or neural processing of sounds in ASD-MLV. In Experiment 1, we compared the percentage of time 47 ASD-MLV and 36 verbally fluent (ASD-V) participants, aged 5-21, displayed atypical auditory or visual sensory behaviors during the administration of the Autism Diagnostic Observation Schedule (ADOS). In Experiment 2, we tested whether atypical auditory behaviors were more frequent in ASD-MLV participants with receptive language deficits. In Experiment 3, we tested whether atypical auditory behaviors correlated with neural indices of sensitivity to perceptual sound differences as measured by the amplitude of neural responses to nonspeech intensity deviants. We found that ASD-MLV participants engaged in atypical auditory behaviors more often than ASD-V participants ; in contrast, the incidence of atypical visual behaviors did not differ between the groups. Lower receptive language skills in the ASD-MLV group were predicted by greater incidence of atypical auditory behaviors. Exploratory analyses revealed a significant negative correlation between the amount of atypical auditory behaviors and the amplitude of neural response to deviants. Future work is needed to elucidate whether the relationship between atypical auditory behaviors and receptive language impairments in ASD-MLV individuals results from disruptions in the brain mechanisms involved in auditory processing. LAY SUMMARY : Minimally and low verbal children and adolescents with autism (ASD-MLV) displayed more atypical auditory behaviors (e.g., ear covering and humming) than verbally fluent participants with ASD. In ASD-MLV participants, time spent exhibiting such behaviors was associated with receptive vocabulary deficits and weaker neural responses to changes in sound loudness. Findings suggest that individuals with ASD with both severe expressive and receptive language impairments process sounds differently.

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5. Frolli A, Ricci MC, Tortorelli FA, Cavallaro A, Valenzano L, Rega A, Operto FF, Corrivetti G. Emotional Education in Early Onset Schizophrenia and Asperger’s Syndrome. Behav Sci (Basel) ;2020 (Aug 29) ;10(9)

In this study, we aim to verify how emotional training can improve empathy and theory of mind (ToM) in patients diagnosed with early onset schizophrenia and Asperger’s syndrome. The study design includes 100 subjects divided into two experimental groups and two control groups. The two experimental groups followed a rational emotive behavior therapy (REBT) protocol. The two control groups instead underwent cognitive behavioral psychotherapy training. Analysis of Variance (ANOVA) was applied to analyze the difference between the Asperger’s syndrome (AS) and early onset schizophrenia (EOS) groups, pre and post training. Our analysis shows that the AS group improved post emotional training but only when emotions were internalized, as demonstrated by the improvement of the scores in the post-treatment eye test (ET) but not in the emotional quotient (EQ) test. The EOS group instead showed post-training improvement, not only concerning skills leading to internalizing emotions but also in empathy, as demonstrated by the improvement of EQ and Reflective Functioning Questionnaire (RFQ) test scores. These scores remained lower than in the control group. Finally, our findings reveal that the value of the treatment was more considerable for the EOS group than for the AS group due to the improvement in first- and second-order ToM skills and an improvement of empathic skills in the first group, followed by the group comprising AS subjects. In the AS group, the treatment only favored the enhancement of first-order ToM skills ; however, this improved quality of life and social adaptation.

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6. Eissa N, Jayaprakash P, Stark H, Łażewska D, Kieć-Kononowicz K, Sadek B. Simultaneous Blockade of Histamine H(3) Receptors and Inhibition of Acetylcholine Esterase Alleviate Autistic-Like Behaviors in BTBR T+ tf/J Mouse Model of Autism. Biomolecules ;2020 (Aug 28) ;10(9)

Autism spectrum disorder (ASD) is a heterogenous neurodevelopmental disorder defined by persistent deficits in social interaction and the presence of patterns of repetitive and restricted behaviors. The central neurotransmitters histamine (HA) and acetylcholine (ACh) play pleiotropic roles in physiological brain functions that include the maintenance of wakefulness, depression, schizophrenia, epilepsy, anxiety and narcolepsy, all of which are found to be comorbid with ASD. Therefore, the palliative effects of subchronic systemic treatment using the multiple-active test compound E100 with high H(3)R antagonist affinity and AChE inhibitory effect on ASD-like behaviors in male BTBR T+tf/J (BTBR) mice as an idiopathic ASD model were assessed. E100 (5, 10 and 15 mg/kg, i.p.) dose-dependently palliated social deficits of BTBR mice and significantly alleviated the repetitive/compulsive behaviors of tested animals. Moreover, E100 modulated disturbed anxiety levels, but failed to modulate hyperactivity parameters, whereas the reference AChE inhibitor donepezil (DOZ, one milligram per kilogram) significantly obliterated the increased hyperactivity measures of tested mice. Furthermore, E100 mitigated the increased levels of AChE activity in BTBR mice with observed effects comparable to that of DOZ and significantly reduced the number of activated microglial cells compared to the saline-treated BTBR mice. In addition, the E100-provided effects on ASD-like parameters, AChE activity, and activated microglial cells were entirely reversed by co-administration of the H(3)R agonist (R)-α-methylhistamine (RAM). These initial overall results observed in an idiopathic ASD mice model show that E100 (5 mg/kg) alleviated the assessed behavioral deficits and demonstrate that simultaneous targeting of brain histaminergic and cholinergic neurotransmissions is crucial for palliation of ASD-like features, albeit further in vivo assessments on its effects on brain levels of ACh as well as HA are still needed.

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7. Gouveia FV, Germann J, Devenyi GA, Morais R, Santos APM, Fonoff ET, Hamani C, Brentani H, Chakravarty MM, Martinez RCR. Refractoriness of aggressive behaviour to pharmacological treatment : cortical thickness analysis in autism spectrum disorder - ERRATUM. BJPsych Open ;2020 (Aug 27) ;6(5):e96.

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8. Santoro C, Giugliano T, Bernardo P, Palladino F, Torella A, Del Vecchio Blanco F, Onore ME, Carotenuto M, Nigro V, Piluso G. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism : a case report. BMC Neurol ;2020 (Sep 1) ;20(1):327.

BACKGROUND : Mutations in RAB39B at Xq28 causes a rare form of X-linked intellectual disability (ID) and Parkinson’s disease. Neurofibromatosis type 1 (NF1) is caused by heterozygous mutations in NF1 occurring de novo in about 50% of cases, usually due to paternal gonadal mutations. This case report describes clinical and genetic findings in a boy with the occurrence of two distinct causative mutations in NF1 and RAB39B explaining the observed phenotype. CASE PRESENTATION : Here we report a 7-year-old boy with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness. Proband is an only child born to a father aged 47. Parents did not present signs of NF1, while a maternal uncle showed severe ID, epilepsy, and tremors.By RNA analysis of NF1, we identified a de novo splicing variant (NM_000267.3:c.6579+2T>C) in proband, which explained NF1 clinical features but not the severe ID, behavioral problems, and aggressiveness. Family history suggested an X-linked condition and massively parallel sequencing of X-exome identified a novel RAB39B mutation (NM_171998.2:c.436_447del) in proband, his mother, and affected maternal uncle, subsequently validated by Sanger sequencing in these and other family members. CONCLUSIONS : The case presented here highlights how concurrent genetic defects should be considered in NF1 patients when NF1 mutations cannot reasonably explain all the observed clinical features.

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9. Ekinci O, İpek Baş SA, Ekinci N, Doğan Ö, Yaşöz C, Adak İ. Sluggish cognitive tempo is associated with autistic traits and anxiety disorder symptoms in children with attention-deficit/hyperactivity disorder. Braz J Psychiatry ;2020 (Aug 31)

OBJECTIVE : To investigate the association of sluggish cognitive tempo (SCT) with autistic traits (ATs) and anxiety disorder symptoms among children with attention-deficit/hyperactivity disorder (ADHD). METHODS : A total of 195 children with a DSM-5 diagnosis of ADHD were included. The Barkley Sluggish Cognitive Tempo Scale (BSCTS) was used to measure SCT symptoms. Other study measures included the Autism Spectrum Quotient (AQ), Screen for Child Anxiety and Related Disorders (SCARED), Turgay DSM-IV Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), and Conners’ Teacher Rating Scale (CTRS-R). RESULTS : The frequency of SCT was 30.3% (n=59) in the whole group. Those with SCT had higher total AQ and SCARED scores. Significant associations and correlations were also found between SCT and certain subscores of AQ and SCARED. According to the linear regression model, the total score and social skills, attention switching, and imagination scores of AQ, as well as generalized anxiety and panic/somatic scores of SCARED and the total and inattention scores of parent T-DSM-IV, were predictive of SCT total score (p < 0.05). CONCLUSIONS : SCT is associated with ATs and anxiety disorders. Children with ADHD and SCT symptoms should be screened for such conditions.

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10. Licznerski P, Park HA, Rolyan H, Chen R, Mnatsakanyan N, Miranda P, Graham M, Wu J, Cruz-Reyes N, Mehta N, Sohail S, Salcedo J, Song E, Effman C, Effman S, Brandao L, Xu GN, Braker A, Gribkoff VK, Levy RJ, Jonas EA. ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome. Cell ;2020 (Sep 3) ;182(5):1170-1185 e1179.

Loss of the gene (Fmr1) encoding Fragile X mental retardation protein (FMRP) causes increased mRNA translation and aberrant synaptic development. We find neurons of the Fmr1(-/y) mouse have a mitochondrial inner membrane leak contributing to a "leak metabolism." In human Fragile X syndrome (FXS) fibroblasts and in Fmr1(-/y) mouse neurons, closure of the ATP synthase leak channel by mild depletion of its c-subunit or pharmacological inhibition normalizes stimulus-induced and constitutive mRNA translation rate, decreases lactate and key glycolytic and tricarboxylic acid (TCA) cycle enzyme levels, and triggers synapse maturation. FMRP regulates leak closure in wild-type (WT), but not FX synapses, by stimulus-dependent ATP synthase β subunit translation ; this increases the ratio of ATP synthase enzyme to its c-subunit, enhancing ATP production efficiency and synaptic growth. In contrast, in FXS, inability to close developmental c-subunit leak prevents stimulus-dependent synaptic maturation. Therefore, ATP synthase c-subunit leak closure encourages development and attenuates autistic behaviors.

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11. Gudbrandsen M, Mann C, Bletsch A, Daly E, Murphy CM, Stoencheva V, Blackmore CE, Rogdaki M, Kushan L, Bearden CE, Murphy DGM, Craig MC, Ecker C. Patterns of Cortical Folding Associated with Autistic Symptoms in Carriers and Noncarriers of the 22q11.2 Microdeletion. Cereb Cortex ;2020 (Sep 3) ;30(10):5281-5292.

22q11.2 deletion syndrome (22q11.2DS) is a genetic condition accompanied by a range of psychiatric manifestations, including autism spectrum disorder (ASD). It remains unknown, however, whether these symptoms are mediated by the same or distinct neural mechanisms as in idiopathic ASD. Here, we examined differences in lGI associated with ASD in 50 individuals with 22q11.2DS (n = 25 with ASD, n = 25 without ASD) and 81 individuals without 22q11.2DS (n = 40 with ASD, n = 41 typically developing controls). We initially utilized a factorial design to identify the set of brain regions where lGI is associated with the main effect of 22q11.2DS, ASD, and with the 22q11.2DS-by-ASD interaction term. Subsequently, we employed canonical correlation analysis (CCA) to compare the multivariate association between variability in lGI and the complex clinical phenotype of ASD between 22q11.2DS carriers and noncarriers. Across approaches, we established that even though there is a high degree of clinical similarity across groups, the associated patterns of lGI significantly differed between carriers and noncarriers of the 22q11.2 microdeletion. Our results suggest that ASD symptomatology recruits different neuroanatomical underpinnings across disorders and that 22q11.2DS individuals with ASD represent a neuroanatomically distinct subgroup that differs from 22q11.2DS individuals without ASD and from individuals with idiopathic ASD.

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12. van Kessel R, Hrzic R, Czabanowska K, Baranger A, Azzopardi-Muscat N, Charambalous-Darden N, Brayne C, Baron-Cohen S, Roman-Urrestarazu A. Autism and education-international policy in small EU states : policy mapping in Malta, Cyprus, Luxembourg and Slovenia. Eur J Public Health ;2020 (Sep 3)

BACKGROUND : Special education provides an array of support that can advantageously meet special education needs (SEN) of children with autism. This report maps autism and SEN policies, and tension of international legislation in Malta, Cyprus, Luxembourg and Slovenia. METHODS : A policy path analysis was performed using a scoping review as fundamental methodological framework. RESULTS : Education for children with SEN developed from limited education towards segregation, and further to integration, and inclusion in mainstream education. International policy has greatly influenced the education systems under study. The rights to education and to have SEN addressed have been adopted in all countries. Inclusion is seen to be gradually incorporated by Malta, Cyprus and Luxembourg-closely following values of international documents through concise SEN policies. Slovenia’s education system remains segregated, indicating potential tension. CONCLUSIONS : It appears that mainstream schools offer SEN services until no longer feasible for the child in the majority of investigated countries. Inclusion has become a guiding principle for most education systems under study. Finally, small states either commit to the implementation of inclusion or delay it and attempt to improve the education system for children with SEN in different ways.

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13. Ristori MV, Mortera SL, Marzano V, Guerrera S, Vernocchi P, Ianiro G, Gardini S, Torre G, Valeri G, Vicari S, Gasbarrini A, Putignani L. Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders : Phenotype Stratification and Biomarker Discovery. Int J Mol Sci ;2020 (Aug 30) ;21(17)

Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD.

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14. Toscano R, Hudson JL, Baillie AJ, Lyneham HJ, McLellan LF. Development of the Macquarie Anxiety Behavioural Scale (MABS) : A parent measure to assess anxiety in children and adolescents including young people with autism spectrum disorder. J Affect Disord ;2020 (Nov 1) ;276:678-685.

OBJECTIVE : This study examined measurement variance for Autism Spectrum Disorder (ASD) in the Spence Children’s Anxiety Scale - Parent Form (SCAS-P ; Spence, 1999). In addition, we developed and evaluated a new parent report measure for anxiety (Macquarie Anxiety Behavioural Scale ; MABS). METHOD : The sample consisted of 734 parents of children aged 3-19 years (i) who were seeking help for their child’s anxiety, (ii) who had received a diagnosis of ASD, or (iii) from the community. RESULTS : Evidence for measurement variance of the SCAS-P and MABS was found, revealing different factor structures between the ASD and non-ASD groups. MIMIC modelling showed that the scales performed significantly different across ASD and non-ASD groups. Differential item functioning on a number of the SCAS-P and MABS items was also found. LIMITATIONS : This study relied on parent report of symptoms and of community acquired diagnoses of ASD. CONCLUSION : The MABS is a new parent measure to assess anxiety in children and adolescents and the proposed factor structure produced a reasonably good fit for the data. Similar to the SCAS-P, ASD was found to impact on some of the MABS items indicating that ASD influences parental responding. Eighteen MABS items showed measurement invariance across the anxious and ASD groups and can be considered suitable items for the assessment of anxiety in ASD.

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15. Adams D, Emerson LM. The Impact of Anxiety in Children on the Autism Spectrum. J Autism Dev Disord ;2020 (Sep 2)

The recognition of anxiety as one of the most commonly co-occurring diagnoses for individuals on the autism spectrum has led to increased research on symptomatology and treatment, but there is limited research documenting the impact of this anxiety. To address this, this study reports on the Child Anxiety Life Interference Scale (CALIS, parent version) in a community sample of 121 parents of children on the autism spectrum. Scores indicate that the anxiety is impacting upon the child’s engagement in activities both in and outside of home as well as impacting upon parent life. Explanatory variables differed for CALIS subscales. As the child’s difficulties with uncertainty and parent level of anxiety were the variables that explained the most variance, these may be important foci for effective interventions.

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16. Cassidy SA, Robertson A, Townsend E, O’Connor RC, Rodgers J. Advancing Our Understanding of Self-harm, Suicidal Thoughts and Behaviours in Autism. J Autism Dev Disord ;2020 (Sep 3)

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17. Cheung PPP, Brown T, Yu ML, Siu AMH. The Effectiveness of a School-Based Social Cognitive Intervention on the Social Participation of Chinese Children with Autism. J Autism Dev Disord ;2020 (Sep 3)

This study evaluates the efficacy of a school-based social cognitive intervention for children with autism. Seventy-four children and adolescents were taught visually scaffolded, theory of mind-based social skills program. Using a mixed-methods approach, children’s social competence was assessed at pre-test and post-test. Compared to a waitlist control group, children in the intervention group demonstrated significantly greater gains on theory-of-mind and social skill measures. Focus groups and interviews were conducted to explore parents’ views and generalization of children’s social skills across settings. Children’s social participation exhibited improvement in home, community, and school settings. The study findings offer promising evidence for a cost-effective program and support of the school-based social skills intervention for children with ASD in Hong Kong context.

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18. Liu XY, To SM. Personal Growth Experience among Parents of Children with Autism Participating in Intervention. J Autism Dev Disord ;2020 (Sep 1)

Guided by Pals’ (in : McStay (ed) Identity and story : Creating self in narrative, American Psychological Association, Washington DC, 2006) model of self-making through a narrative lens in the context of adversity, this study investigated not only the difficulties but also the personal growth that parents have experienced while participating in the interventions with their children with autism spectrum disorder (ASD) in mainland China. Based on interviews with 16 purposively sampled parents, thematic analysis revealed themes concerning the parents’ acknowledgment of stressful events and their emotional reactions, meanings of their experiences constructed through causal connections, and outcomes of their perceived improvement in self-understanding, parent-child relationships, and philosophies on life. Largely consistent with this theoretical model, such findings highlight the uniqueness of the personal growth process of parents of children with ASD in China’s sociocultural context.

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19. Logrieco MGM, Ciuffreda GN, Sinjari B, Spinelli M, Rossi R, D’Addazio G, Lionetti F, Caputi S, Fasolo M. What Happens at a Dental Surgery When the Patient is a Child with Autism Spectrum Disorder ? An Italian Study. J Autism Dev Disord ;2020 (Sep 3)

Oral health care can be a difficult experience for a child with Autism Spectrum Disorder (ASD), for their family and for the dentist. The purpose of this study is to provide an understanding of the challenges experienced by the three aforementioned figures during oral care treatment. A cohort of 275 parents of typical development children (TD), 57 parents of children with ASD (3-15 years old) and by 61 dentists, completed two different multiple choices questionnaires. The data obtained show a great difficulty in the treatment of children with ASD as seen by the dentists and by the parents. This is due to : caregivers’ demographic issues ; difficulties encountered before and during the dental examination ; scarce presence of experts in ASD treatment.

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20. Straiton D, Groom B, Ingersoll B. Parent Training for Youth with Autism Served in Community Settings : A Mixed-Methods Investigation Within a Community Mental Health System. J Autism Dev Disord ;2020 (Sep 2)

Parent training programs focus on parent knowledge and/or skill development regarding strategies to improve child outcomes. Parent training programs are considered evidenced-based treatments for autism spectrum disorder (ASD). Yet little is known about parent training use for youth with ASD served in community settings. This mixed methods project examined parent training for Medicaid-enrolled youth with ASD under age 21. Data were obtained from Medicaid claims for 879 youth and surveys from 97 applied behavior analysis (ABA) providers. Open-ended survey items were analyzed with content analysis. Results demonstrated that the frequency of parent training was low and providers’ conceptualization of parent training was inconsistent with evidence-based models. Providers are largely unaware of evidence-based components (i.e., modeling, caregiver practice with feedback) and use them infrequently. Implications for increasing parent training in community settings are discussed.

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21. Noroozi R, Dinger ME, Fatehi R, Taheri M, Ghafouri-Fard S. Identification of miRNA-mRNA Network in Autism Spectrum Disorder Using a Bioinformatics Method. J Mol Neurosci ;2020 (Sep 2)

Autism spectrum disorder (ASD) includes a heterogeneous group of disorders with different contributing genetics and epigenetics factors. Aberrant expression of miRNAs has been detected in ASD children compared with normally developed children. Due to the heterogeneity of this disorder, there is no consensus on ASD-associated miRNAs ; thus, it is necessary to develop a model for comprehensive assessment of the role of miRNAs in ASD. We interrogated the PubMed, Google Scholar, and Web of Science databases until the end of 2019 to identify ASD-associated miRNAs. In addition, mRNA-coding genes that contribute to the pathogenesis of ASD were downloaded from the SFARI GENE ( https://gene.sfari.org/ ). The obtained 201 miRNAs and 478 target mRNAs were imported into the Cytoscape software suite to construct a miRNA-mRNA network. A protein-protein interaction network was constructed for target mRNAs using the CluPedia program in Cytoscape. Using this approach, we detected five modules that were associated with neurexins and neuroligins, glutamatergic synapse, cell adhesion molecules, NOTCH, MECP2 and circadian clock pathways, L1CAM interactions, and neurotransmitter release cycle. Taken together, functional analysis of these genes led to determination of critical pathways related to CNS disorders. Thus, the suggested approach in the current study resulted in the identification of the most relevant pathways in the pathogenesis of ASD that can be used as biomarkers or therapeutic targets.

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22. Yumoto T, Kimura M, Nagatomo R, Sato T, Utsunomiya S, Aoki N, Kitaura M, Takahashi K, Takemoto H, Watanabe H, Okano H, Yoshida F, Nao Y, Tomita T. Autism-associated variants of neuroligin 4X impair synaptogenic activity by various molecular mechanisms. Mol Autism ;2020 (Sep 1) ;11(1):68.

BACKGROUND : Several genetic alterations, including point mutations and copy number variations in NLGN genes, have been associated with psychiatric disorders, such as autism spectrum disorder (ASD) and X-linked mental retardation (XLMR). NLGN genes encode neuroligin (NL) proteins, which are adhesion molecules that are important for proper synaptic formation and maturation. Previously, we and others found that the expression level of murine NL1 is regulated by proteolytic processing in a synaptic activity-dependent manner. METHODS : In this study, we analyzed the effects of missense variants associated with ASD and XLMR on the metabolism and function of NL4X, a protein which is encoded by the NLGN4X gene and is expressed only in humans, using cultured cells, primary neurons from rodents, and human induced pluripotent stem cell-derived neurons. RESULTS : NL4X was found to undergo proteolytic processing in human neuronal cells. Almost all NL4X variants caused a substantial decrease in the levels of mature NL4X and its synaptogenic activity in a heterologous culture system. Intriguingly, the L593F variant of NL4X accelerated the proteolysis of mature NL4X proteins located on the cell surface. In contrast, other variants decreased the cell-surface trafficking of NL4X. Notably, protease inhibitors as well as chemical chaperones rescued the expression of mature NL4X. LIMITATIONS : Our study did not reveal whether these dysfunctional phenotypes occurred in individuals carrying NLGN4X variant. Moreover, though these pathological mechanisms could be exploited as potential drug targets for ASD, it remains unclear whether these compounds would have beneficial effects on ASD model animals and patients. CONCLUSIONS : These data suggest that reduced amounts of the functional NL4X protein on the cell surface is a common mechanism by which point mutants of the NL4X protein cause psychiatric disorders, although different molecular mechanisms are thought to be involved. Furthermore, these results highlight that the precision medicine approach based on genetic and cell biological analyses is important for the development of therapeutics for psychiatric disorders.

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23. Andari E, Rilling JK. Genetic and epigenetic modulation of the oxytocin receptor and implications for autism. Neuropsychopharmacology ;2020 (Sep 3)

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24. Kabashima Y, Tadaka E, Arimoto A. Development of the parental self-efficacy scale for preventing challenging behaviors in children with autism spectrum disorder. PLoS One ;2020 ;15(9):e0238652.

BACKGROUND : Almost all children with autism spectrum disorder (ASD) have experienced challenging behavior, including disruptive and aggressive behavior symptoms to both themselves and others. In conjunction with appropriate strategic parenting, challenging behavior can be prevented by empowering children’s sociality and optimizing their environment. However, a means of measuring such parenting has yet to appear. This study developed the Parental Self-Efficacy Scale for Preventing Challenging Behaviors in Children with Autism Spectrum Disorder (PASEC) and evaluated its reliability and validity. METHOD : Self-administered questionnaires were distributed to 1,344 parents of children with ASD at all 521 child development support centers in Japan. Confirmed construct validity of the PASEC was determined using confirmatory factor analysis. Internal consistency of the PASEC was calculated using Cronbach’s alpha. The self-efficacy subscale of the Parenting Sense of Competence (PSOC) was administered to assess criterion-related validity of the PASEC. RESULTS : In total, 260 parents provided valid responses. Exploratory and confirmatory factor analyses identified six items from two factors : empowerment of children’s sociality and optimization of children’s environment. The final model showed goodness-of-fit index, 0.981 ; adjusted goodness-of-fit index, 0.944 ; comparative fit index, 0.999 ; and root mean square error of approximation, 0.019. Cronbach’s alpha for the entire PASEC was 0.82 ; that for each factor was above 0.70. The correlation coefficient between the self-efficacy subscale of the PSOC and the entire PASEC was r = 0.52 (P <0.001). CONCLUSIONS : The PASEC demonstrated adequate reliability and validity to assess parents’ self-efficacy for preventing challenging behavior for children with ASD. That scale can help prevent challenging behavior ; it can contribute to improving the mental health of parents and children with ASD as well as to primary prevention of child maltreatment and abuse.

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25. Serret S. Enseigner la reconnaissance des émotions chez des enfants ayant un trouble autistique à l’aide d’un serious game. Rev Prat ;2020 (Mar) ;70(3):251.

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26. Jiang J, von Kriegstein K. Brain mechanisms of eye contact during verbal communication predict autistic traits in neurotypical individuals. Sci Rep ;2020 (Sep 3) ;10(1):14602.

Atypical eye contact in communication is a common characteristic in autism spectrum disorders. Autistic traits vary along a continuum extending into the neurotypical population. The relation between autistic traits and brain mechanisms underlying spontaneous eye contact during verbal communication remains unexplored. Here, we used simultaneous functional magnetic resonance imaging and eye tracking to investigate this relation in neurotypical people within a naturalistic verbal context. Using multiple regression analyses, we found that brain response in the posterior superior temporal sulcus (pSTS) and its connectivity with the fusiform face area (FFA) during eye contact with a speaker predicted the level of autistic traits measured by Autism-spectrum Quotient (AQ). Further analyses for different AQ subclusters revealed that these two predictors were negatively associated with attention to detail. The relation between FFA-pSTS connectivity and the attention to detail ability was mediated by individuals’ looking preferences for speaker’s eyes. This study identified the role of an individual eye contact pattern in the relation between brain mechanisms underlying natural eye contact during verbal communication and autistic traits in neurotypical people. The findings may help to increase our understanding of the mechanisms of atypical eye contact behavior during natural communication.

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27. Motanis H, Buonomano D. Decreased reproducibility and abnormal experience-dependent plasticity of network dynamics in Fragile X circuits. Sci Rep ;2020 (Sep 3) ;10(1):14535.

Fragile X syndrome is a neurodevelopmental disorder associated with a broad range of neural phenotypes. Interpreting these findings has proven challenging because some phenotypes may reflect compensatory mechanisms or normal forms of plasticity differentially engaged by experiential differences. To help minimize compensatory and experiential influences, we used an ex vivo approach to study network dynamics and plasticity of cortical microcircuits. In Fmr1(-/y) circuits, the spatiotemporal structure of Up-states was less reproducible, suggesting alterations in the plasticity mechanisms governing network activity. Chronic optical stimulation revealed normal homeostatic plasticity of Up-states, however, Fmr1(-/y) circuits exhibited abnormal experience-dependent plasticity as they did not adapt to chronically presented temporal patterns in an interval-specific manner. These results, suggest that while homeostatic plasticity is normal, Fmr1(-/y) circuits exhibit deficits in the ability to orchestrate multiple forms of synaptic plasticity and to adapt to sensory patterns in an experience-dependent manner-which is likely to contribute to learning deficits.

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28. Yoshimura Y, Kikuchi M, Saito DN, Hirosawa T, Takahashi T, Munesue T, Kosaka H, Naito N, Ouchi Y, Minabe Y. Markers for the central serotonin system correlate to verbal ability and paralinguistic social voice processing in autism spectrum disorder. Sci Rep ;2020 (Sep 3) ;10(1):14558.

Impairment in verbal communication abilities has been reported in autism spectrum disorder (ASD). Dysfunction of the serotonergic system has also been reported in ASD. However, it is still unknown how the brain serotonergic system relates to impairment in verbal communication abilities in individuals with ASD. In the present study, we investigated the correlation between brain serotonergic condition and brain sensitivity to paralinguistic stimuli (i.e., amplitude in the human voice prosodic change-evoked mismatch field) measured by magnetoencephalography (MEG) or verbal ability in 10 adults with ASD. To estimate the brain serotonergic condition, we measured the serotonin transporter nondisplaceable binding potential cerebrum-wide using positron emission tomography with [11C]N,N-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine ([11C] DASB). The results demonstrated a significant positive correlation between brain activity to paralinguistic stimuli and brain serotonin transporter binding potential in the left lingual gyrus, left fusiform gyrus and left calcarine cortex. In addition, there were significant positive correlations between verbal ability and serotonergic condition in the right anterior insula, right putamen and right central operculum. These results suggested that the occipital cortex is implicated in recognition of the prosodic change in ASD, whereas the right insula-involved serotonergic system is important in nurturing verbal function in ASD.Trial registration : UMIN000011077.

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Annonces

Accès direct au catalogue en ligne !

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Formations pour les Familles et les Proches

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1-Formation à l’état des connaissances de l’autisme

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