Pubmed du 08/04/20

mercredi 8 avril 2020

1. Correction : investigating the association between early years foundation stage profile scores and subsequent diagnosis of an autism spectrum disorder : a retrospective study of linked healthcare and education data. BMJ paediatrics open. 2020 ; 4(1) : e000483corr1.

[This corrects the article DOI : 10.1136/bmjpo-2019-000483.].

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2. Ahmad SF, Ansari MA, Nadeem A, Bakheet SA, Al-Ayadhi LY, Alasmari AF, Alanazi MM, Al-Mazroua HA, Attia SM. Involvement of CD45 cells in the development of autism spectrum disorder through dysregulation of granulocyte-macrophage colony-stimulating factor, key inflammatory cytokines, and transcription factors. International immunopharmacology. 2020 ; 83 : 106466.

Autismspectrum disorder (ASD) is a complex and multifactorial heterogeneous disorder. Previous investigations have revealed the association between the immune system and ASD, which is characterized by impaired communication skills. Inflammatory response through CD45 cells plays a key role in the pathogenesis of several autoimmune disorders ; however, the molecular mechanism of CD45 cells in ASD is not clearly defined.In this study, we investigated the role of CD45 signaling in children with ASD. In this study, we aimed to investigate the possible involvement of CD45 cells expressing granulocyte-macrophage colony-stimulating factor and inflammatory transcription factors in ASD. Flow cytometric analysis, using peripheral blood mononuclear cells (PBMC), revealed the numbers of GM-CSF-, IFN-gamma-, IL-6-, IL-9-, IL-22-, T-bet-, pStat3-, Helios-, and Stat6-producing CD45(+) cells in children with ASD and children in the control group. We further evaluated the mRNA and protein expression levels of GM-CSF in PBMC by RT-PCR and western blotting analysis. Our results revealed that the children with ASD exhibited significantly higher numbers of CD45(+)GM-CSF(+), CD45(+)IFN-gamma(+), CD45(+)IL-6(+), CD45(+)IL-9(+), CD45(+)IL-22(+), CD45(+)T-bet(+), and CD45(+)pStat3(+) cells compared with the control group. We also found that the children with ASD showed a lower number of CD45(+)Helios(+) and CD45(+)Stat6(+) cells compared with the control group. Furthermore, the children with ASD showed higher GM-CSF mRNA and protein expression levels compared with the control group. These results indicated that CD45 could play an essential role in the immune abnormalities of ASD. Further investigation of the role of CD45 in neurodevelopment in ASD is warranted.

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3. Anderson KA, Hemmeter J, Rast JE, Roux AM, Shattuck PT. Trends in Supplemental Security Income Payments to Adults With Autism. Psychiatr Serv. 2020 : appips201900265.

OBJECTIVE : This study used Social Security Administration program data to identify population-level trends in Supplemental Security Income (SSI) program participation and payments to adult recipients with autism spectrum disorder (ASD) relative to recipients with intellectual disability and other mental disorders. METHODS : The authors examined SSI program data from 2005 to 2015. Variables included caseload size, number of new adult awardees per year, total annual SSI payments per disability group, and average annual SSI payment per recipient. RESULTS : Adults with ASD represented a growing share of the total first-time SSI awards given to adults with mental disorders, with percentages increasing from 1.3% in 2005 to 5.0% in 2015. In 2015, 158,105 adults with ASD received SSI benefits, a 326.8% increase since 2005. Federal SSI payments to adults with ASD increased by 383.2% during the same period (totaling roughly $1.0 billion in 2015). The annual average payment for adults with ASD was $6,527.40 in 2015. CONCLUSIONS : The purpose of the SSI program is to reduce the extent of poverty by providing monthly payments to eligible individuals with disabilities. The authors found that a large and growing number of adults with autism receive SSI benefits. This finding underscores the importance of future research related to the economic security of adults on the autism spectrum.

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4. Bednarz HM, Trapani JA, Kana RK. Metacognition and behavioral regulation predict distinct aspects of social functioning in autism spectrum disorder. Child Neuropsychol. 2020 : 1-29.

Executive function (EF) deficits are common in autism spectrum disorder (ASD), and previous studies suggest that EF may influence or predict social functioning. Thus, EF is a potential treatment target in this population. However, the nature of how specific metacognition and behavioral regulation components of EF may differentially impact social function remains unclear. The goal of the current study was to examine the relationships between sub-components of EF (e.g., working memory, shifting, inhibition, etc.) and social functioning as measured by parent ratings on the Behavior Rating Inventory of Executive Functioning (BRIEF) and the Social Responsiveness Scale (SRS), while controlling for the influence of age, sex, and IQ. A second goal was to examine whether BRIEF scores were predictive of clinician-rated measures of ASD symptoms. Behavioral data were acquired from the Autism Brain Imaging Data Exchange-II database and included 106 children with ASD (ages 5-13). Based on analysis of parent ratings, self-monitoring skills predicted social awareness ; shifting ability predicted social cognition ; working memory and monitoring skills predicted social communication ; initiation predicted social motivation ; and shifting ability predicted restrictive and repetitive behaviors among children with ASD. Parent ratings on the BRIEF did not predict clinician-rated measures of ASD symptoms ; this requires further study. Overall, the current findings indicate that metacognition and behavioral regulation both contribute to social functioning in ASD, although they each have distinct patterns of influence on different aspects of social functioning. These findings have promising implications for tailoring social interventions for ASD that target specific EF skills.

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5. Gaigg SB, Flaxman PE, McLaven G, Shah R, Bowler DM, Meyer B, Roestorf A, Haenschel C, Rodgers J, South M. Self-guided mindfulness and cognitive behavioural practices reduce anxiety in autistic adults : A pilot 8-month waitlist-controlled trial of widely available online tools. Autism. 2020 : 1362361320909184.

LAY ABSTRACT : Anxiety in autism is an important target for psychological therapies because it is very common and because it significantly impacts upon quality of life and well-being. Growing evidence suggests that cognitive behaviour therapies and mindfulness-based therapies can help autistic individuals learn to manage feelings of anxiety but access to such therapies remains problematic. In the current pilot study, we examined whether existing online cognitive behaviour therapy and mindfulness-based therapy self-help tools can help reduce anxiety in autistic adults. Specifically, 35 autistic adults were asked to try either an existing online cognitive behaviour therapy (n = 16) or mindfulness-based therapy (n = 19) programme while a further 19 autistic adults served as a waitlist comparison group. A first important finding was that 23 of the 35 (66%) participants who tried the online tools completed them, suggesting that such tools are, in principle, acceptable to many autistic adults. In addition, adults in the cognitive behaviour therapy and mindfulness-based therapy conditions reported significant decreases in anxiety over 3 and to some extent also 6 months that were less apparent in the waitlist group of participants. On broader measures of mental health and well-being, the benefits of the online tools were less apparent. Overall, the results suggest that online self-help cognitive behaviour therapy and mindfulness-based therapy tools should be explored further as a means of providing cost-effective mental health support to at least those autistic individuals who can engage effectively with such online tools.

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6. Giannotti M, de Falco S, Venuti P. Alexithymia, Not Autism Spectrum Disorder, Predicts Perceived Attachment to Parents in School-Age Children. Front Psychol. 2020 ; 11 : 332.

Alexithymia is defined as a limited ability in the cognitive processing of emotions. Literature suggested its negative influence on interpersonal relationship, documenting elevated alexithymia in individuals with Autism Spectrum Disorder (ASD) compared to control groups. However, the study of alexithymia in school-age children with ASD remains largely unexplored as well as its effect on specific child socioemotional outcomes such as quality of attachment relationships. This study examines alexithymia and perceived attachment to parents in twenty-four children with ASD (without intellectual disability) and 24 typically developing (TD) children (mean age 10 years) using the self-reported Alexithymia Questionnaire for Children (AQC) and the Inventory of Parent and Peer Attachment (IPPA). Measures of family SES as well as child intelligence were collected. Data revealed that ASD children showed higher levels of Alexithymia compared to TD group. In addition, 21% of participants with ASD exceed alexithymia categorical cut-off. By contrast, no difference emerged in the perception of attachment to parents. Moreover, alexithymia, but not ASD status, was found to predictive of child perception of attachment to parents. We observed no significant effect of child age and verbal IQ. Our findings showed that alexithymia was more common in children with ASD, whereas attachment was similar between groups. Difficulties in identifying and describing one’s own feelings may hinder the construction of a positive representation of parent-child attachment relationship regardless of child clinical status. Thus, alexithymia seems to play a key role on the way school-age children with and without ASD perceive their relationship with their parents.

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7. Granovetter MC, Burlingham CS, Blauch NM, Minshew NJ, Heeger DJ, Behrmann M. Uncharacteristic task-evoked pupillary responses implicate atypical locus coeruleus activity in autism. J Neurosci. 2020.

Autism spectrum disorder (ASD) is characterized partly by atypical attentional engagement, reflected in exaggerated and variable responses to sensory stimuli. Attentional engagement is known to be regulated by the locus coeruleus (LC). Moderate baseline LC activity globally dampens neural responsivity and is associated with adaptive deployment and narrowing of attention to task-relevant stimuli. In contrast, increased baseline LC activity enhances neural responsivity across cortex and widening of attention to environmental stimuli regardless of their task relevance. Given attentional atypicalities in ASD, this study is the first to evaluate whether, under different attentional task demands, individuals with ASD exhibit a different profile of LC activity compared to typically developing controls. Males and females with ASD and age- and gender-matched controls participated in a one-back letter detection test while task-evoked pupillary responses-an established correlate for LC activity-were recorded. Participants completed this task in two conditions, either in the absence or presence of distractor auditory tones. Compared to controls, individuals with ASD evinced atypical pupillary responses in the presence versus absence of distractors. Notably, this atypical pupillary profile was evident despite the fact that both groups exhibited equivalent task performance. Moreover, between-group differences in pupillary responses were observed specifically in response to task-relevant events, providing confirmation that the group differences most likely were specifically associated with distinctions in LC activity. These findings suggest that individuals with ASD show atypical modulation of LC activity with changes in attentional demands, offering a possible mechanistic and neurobiological account for attentional atypicalities in ASD.Significance StatementIndividuals with autism spectrum disorder (ASD) exhibit atypical attentional behaviors, including altered sensory responses and atypical fixedness, but the neural mechanism underlying these behaviors remains elusive. One candidate mechanism is atypical locus coeruleus (LC) activity, as the LC plays a critical role in attentional modulation. Specifically, LC activity is involved in regulating the tradeoff between environmental exploration and focused attention. This study shows that, under tightly controlled conditions, task-evoked pupil responses-an LC activity proxy-are lower in individuals with ASD than in controls, but only in the presence of task-irrelevant stimuli. This suggests that individuals with ASD evince atypical modulation of LC activity in accordance with changes in attentional demands, offering a mechanistic account for attentional atypicalities in ASD.

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8. Greene RK, Damiano-Goodwin CR, Walsh E, Bizzell J, Dichter GS. Neural Mechanisms of Vicarious Reward Processing in Adults with Autism Spectrum Disorder. Autism research and treatment. 2020 ; 2020 : 8014248.

Previous studies examining the neural substrates of reward processing in ASD have explored responses to rewards for oneself but not rewards earned for others (i.e., vicarious reward). This omission is notable given that vicarious reward processing is a critical component of creating and maintaining social relationships. The current study examined the neural mechanisms of vicarious reward processing in 15 adults with ASD and 15 age- and gender-matched typically developing controls. Individuals with ASD demonstrated attenuated activation of reward-related regions during vicarious reward processing. Altered connectivity was also observed in individuals with ASD during reward receipt. These findings of altered neural sensitivity to vicarious reward processing may represent a mechanism that hinders the development of social abilities in ASD.

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9. Hartley C, Bird LA, Monaghan P. Comparing cross-situational word learning, retention, and generalisation in children with autism and typical development. Cognition. 2020 ; 200 : 104265.

Word learning is complicated by referential ambiguity - there are often multiple potential targets for a newly-heard word. While typically developing (TD) children can accurately infer word meanings from cross-situational statistics, specific difficulties tracking word-object co-occurrences may contribute to language impairments in autism spectrum disorder (ASD). Here, we investigate cross-situational word learning as an integrated system including mapping, retention, and generalisation in both typical development and autism. In Study 1, children with ASD were as accurate at disambiguating the meanings of novel words from statistical correspondences as TD controls matched on receptive vocabulary. In Study 2, both populations spontaneously utilised social and non-social attentional cues to facilitate and accelerate their mapping of word-referent relationships. Across Studies 1 and 2, both groups retrieved and generalised word-referent representations with impressive and comparable accuracy. Although children with ASD performed very similarly to TD children on measures of learning accuracy, they were significantly slower to identify correct referents under both cued and non-cued learning conditions. These findings indicate that mechanisms supporting cross-situational word learning, and the relationships between them, are not qualitatively atypical in language-delayed children with ASD. However, the increased time required to generate correct responses suggests that these mechanisms may be less efficient, potentially impacting learning in natural environments where visual and auditory stimuli are presented rapidly. Our data support claims that word learning in the longer term is driven by the gradual accumulation of word-object associations over multiple learning instances and could potentially inform the development of interventions designed to scaffold word learning.

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10. Hill EJ, Goetz CG, Stebbins GT, Hagerman R, Ouyang B, Hall DA. Placebo Response in Fragile X-associated Tremor/Ataxia Syndrome. Movement disorders clinical practice. 2020 ; 7(3) : 298-302.

Background : Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder characterized by intention tremor, cerebellar ataxia, and executive dysfunction in carriers of a CGG repeat expansion premutation (55-200 repeats) in the fragile X mental retardation 1 (FMR1) gene. Given reports of poor insight in FXTAS, we postulated that patients with FXTAS would be less likely to exhibit placebo response. Objective : To analyze placebo response from the first randomized controlled trial in FXTAS that evaluated cognitive and motor outcomes after 1 year of treatment with memantine. Methods : Data from the placebo arm of the first randomized controlled trial in FXTAS were analyzed. There were 2 coprimary outcomes. Based on studies in Parkinson’s disease, placebo responders were defined as individuals with an improvement of at least 50% in the coprimary outcomes. Improvements of 20% and 30% served as secondary cutoff values based on the suggested magnitude of placebo response in other movement disorders. Results : A total of 36 participants in the placebo group completed baseline and follow-up evaluations. The average age was 66 +/- 7 years, and 60% were men. Average CGG repeat size was 86 +/- 18. A total of 19 participants had stage 3 disease. Only 1 patient showed 50% improvement in both coprimary outcomes. At 30% and 20% improvement, there were 2 and 3 patients showing placebo response in the coprimary outcomes, respectively. Conclusions : Patients with FXTAS exhibited low rates of placebo response in a randomized controlled trial. Further studies on the relationship between baseline insight and placebo responsivity are applicable to FXTAS and other disorders exhibiting cognitive impairment.

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11. Jin P, Wang Y, Li Y, Xiao Y, Li C, Qiu N, Weng J, Fang H, Ke X. The fair decision-making of children and adolescents with high-functioning autism spectrum disorder from the perspective of dual-process theories. BMC Psychiatry. 2020 ; 20(1) : 152.

BACKGROUND : Fairness has received much attention in our society. At present, the findings regarding fair decision-making in high-functioning autism spectrum disorder (HF-ASD) are inconsistent. Previous studies have shown that the fair decision-making of typically developing children is influenced by theory of mind (ToM) and executive functioning (EF). As those with HF-ASD have defects in both domains, this study aims to explore the differences in fair decision-making between children and adolescents with HF-ASD and those with typical development (TD). METHODS : We used a simple ultimatum game (UG) to explore 31 children and adolescents with HF-ASD and 38 children and adolescents with TD. T tests and chi-square tests were used to compare group differences, and Pearson correlation analysis and stepwise regression analysis were used to analyse the mechanisms influencing the two groups’ unfair acceptance rates. RESULTS : The results show that children with HF-ASD are more likely to accept unfair offers, but for adolescents, the difference is not significant. Regression analysis showed that the interaction between the behavior regulation index (BRI) and age could negatively predict the unfair acceptance rate of children and adolescents with HF-ASD. Working memory and ToM can negatively predict the unfair acceptance rate of those with TD. CONCLUSION : This study concluded that the development of fair decision-making by children and adolescents with HF-ASD falls far behind that of those with TD. Intuition processes play a dominant role in the fair decision-making processes of children and adolescents with HF-ASD, and we believe that comorbidity, age, experience and emotional management are important factors influencing the fair decision-making of individuals with HF-ASD.

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12. Katz J, Knight V, Mercer SH, Skinner SY. Effects of a Universal School-Based Mental Health Program on the Self-concept, Coping Skills, and Perceptions of Social Support of Students with Developmental Disabilities. J Autism Dev Disord. 2020.

In a cluster randomized control trial, a school-based mental health program combining mental health literacy and dialectical behavior skills was implemented by teachers to determine effects on protective factors related to resilience for students in 3rd-12th grade. As part of a larger study, a subsample of 113 students with developmental disabilities attending 37 classrooms participated. Student-reported measures of self-concept, coping skills, and social support were collected three times in the year. Results indicated large effect sizes for the program on all measures, which pertain to time x group interactions (g = 1.53, 1.91, and 0.86 for self-concept, coping, and social support respectively). Follow-up analyses indicated that gains for the intervention schools primarily occurred between the first two assessment periods when the majority of program content was delivered. Implications for universal school-based mental health programming for students with developmental disabilities are discussed.

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13. Lee YS, Yu NK, Chun J, Yang JE, Lim CS, Kim H, Park G, Lee JA, Lee K, Kaang BK, Lee JH. Identification of a novel Shank2 transcriptional variant in Shank2 knockout mouse model of autism spectrum disorder. Molecular brain. 2020 ; 13(1) : 54.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that are highly heterogeneous in clinical symptoms as well as etiologies. Mutations in SHANK2 are associated with ASD and accordingly, Shank2 knockout mouse shows ASD-like behavioral phenotypes, including social deficits. Intriguingly, two lines of Shank2 knockout (KO) mouse generated by deleting different exons (exon 6-7 or exon 7) showed distinct cellular phenotypes. Previously, we compared gene expressions between Shank2 KOs lacking exon 6-7 (e6-7 KO) and KOs lacking exon 7 (e7 KO) by performing RNA-seq. In this study, we expanded transcriptomic analyses to identify novel transcriptional variants in the KO mice. We found prominent expression of a novel exon (exon 4’ or e4’) between the existing exons 4 and 5 in the Shank2 e6-7 KO model. Expression of the transcriptional variant harboring this novel exon was confirmed by RT-PCR and western blotting. These findings suggest that the novel variant may function as a modifier gene, which contributes to the differences between the two Shank2 mutant lines. Furthermore, our result further represents an example of genetic compensation that may lead to phenotypic heterogeneity among ASD patients with mutations in the same gene.

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14. Ludlow AK, Giannadou A, Franklin A, Allen PM, Simmons DR, Wilkins AJ. The possible use of precision tinted lenses to improve social cognition in children with autism spectrum disorders. Vision research. 2020 ; 170 : 53-9.

A masked randomised control design compared the effectiveness of precision ophthalmic tints in improving the recognition of emotion in Autism Spectrum Disorders (ASD). Fourteen children aged 10-14 with ASD and 14 control children matched on verbal and non-verbal IQ, wore spectacles with coloured lenses to complete two tasks that involved the observation of coloured video sequences in which social interactions were depicted. On one occasion (randomly first or second) the coloured lenses provided light of a colour that the child had one month previously selected as optimal for the clarity of text. On the other occasion the lenses differed in CIE UCS chromaticity by 0.077. Performance in the ASD group was superior in both social interaction tasks with the lenses that provided the optimal colour of light.

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15. Mansfield P, Constantino JN, Baldridge D. MYT1L : A systematic review of genetic variation encompassing schizophrenia and autism. Am J Med Genet B Neuropsychiatr Genet. 2020.

Variations in MYT1L, a gene encoding a transcription factor expressed in the brain, have been associated with autism, intellectual disability, and schizophrenia. Here we provide an updated review of published reports of neuropsychiatric correlates of loss of function and duplication of MYT1L. Of 27 duplications all were partial ; 33% were associated exclusively with schizophrenia, and the chromosomal locations of schizophrenia-associated duplications exhibited a distinct difference in pattern-of-location from those associated with autism and/or intellectual disability. Of 51 published heterozygous loss of function variants, all but one were associated with intellectual disability, autism, or both, and one resulted in no neuropsychiatric diagnosis. There were no reports of schizophrenia associated with loss of function variants of MYT1L (Fisher’s exact p < .00001, for contrast with all reported duplications). Although the precise function of the various mutations remains unspecified, these data collectively establish the candidacy of MYT1L as a reciprocal mutation, in which schizophrenia may be engendered by partial duplications, typically involving the 3’ end of the gene, while developmental disability-notably autism-is associated with both loss of function and partial duplication. Future research on the specific effects of contrasting mutations in MYT1L may provide insight into the causal origins of autism and schizophrenia.

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16. Snyder W, Troiani V. Behavioural profiling of autism connectivity abnormalities - Erratum. BJPsych open. 2020 ; 6(3) : e35.

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17. Zhuang J, Dvornek NC, Zhao Q, Li X, Ventola P, Duncan JS. PREDICTION OF TREATMENT OUTCOME FOR AUTISM FROM STRUCTURE OF THE BRAIN BASED ON SURE INDEPENDENCE SCREENING. Proceedings IEEE International Symposium on Biomedical Imaging. 2019 ; 2019 : 404-8.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder, and behavioral treatment interventions have shown promise for young children with ASD. However, there is limited progress in understanding the effect of each type of treatment. In this project, we aim to detect structural changes in the brain after treatment and select structural features associated with treatment outcomes. The difficulty in building large databases of patients who have received specific treatments and the high dimensionality of medical image analysis problems are the challenges in this work. To select predictive features and build accurate models, we use the sure independence screening (SIS) method. SIS is a theoretically and empirically validated method for ultra-high dimensional general linear models, and it achieves both predictive accuracy and correct feature selection by iterative feature selection. Compared with step-wise feature selection methods, SIS removes multiple features in each iteration and is computationally efficient. Compared with other linear models such as elastic-net regression, support vector regression (SVR) and partial least squares regression (PSLR), SIS achieves higher accuracy. We validated the superior performance of SIS in various experiments : First, we extract brain structural features from FreeSurfer, including cortical thickness, surface area, mean curvature and cortical volume. Next, we predict different measures of treatment outcomes based on structural features. We show that SIS achieves the highest correlation between prediction and measurements in all tasks. Furthermore, we report regions selected by SIS as biomarkers for ASD.

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