Pubmed du 20/09/20

dimanche 20 septembre 2020

1. Agam G, Taylor Z, Vainer E, Golan HM. The influence of choline treatment on behavioral and neurochemical autistic-like phenotype in Mthfr-deficient mice. Transl Psychiatry ;2020 (Sep 18) ;10(1):316.

Imbalanced one carbon metabolism and aberrant autophagy is robustly reported in patients with autism. Polymorphism in the gene methylenetetrahydrofolate reductase (Mthfr), encoding for a key enzyme in this pathway is associated with an increased risk for autistic-spectrum-disorders (ASDs). Autistic-like core and associated behaviors have been described, with contribution of both maternal and offspring Mthfr(+/-) genotype to the different domains of behavior. Preconception and prenatal supplementation with methyl donor rich diet to human subjects and mice reduced the risk for developing autism and autistic-like behavior, respectively. Here we tested the potential of choline supplementation to Mthfr-deficient mice at young-adulthood to reduce behavioral and neurochemical changes reminiscent of autism characteristics. We show that offspring of Mthfr(+/-) mothers, whether wildtype or heterozygote, exhibit autistic-like behavior, altered brain p62 protein levels and LC3-II/LC3-I levels ratio, both, autophagy markers. Choline supplementation to adult offspring of Mthfr(+/-) mothers for 14 days counteracted characteristics related to repetitive behavior and anxiety both in males and in females and improved social behavior solely in male mice. Choline treatment also normalized deviant cortical levels of the autophagy markers measured in male mice. The results demonstrate that choline supplementation even at adulthood, not tested previously, to offspring of Mthfr-deficient mothers, attenuates the autistic-like phenotype. If this proof of concept is replicated it might promote translation of these results to treatment recommendation for children with ASDs bearing similar genetic/metabolic make-up.

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2. DeBrabander KM, Pinkham AE, Ackerman RA, Jones DR, Sasson NJ. Cognitive and Social Cognitive Self-assessment in Autistic Adults. J Autism Dev Disord ;2020 (Sep 20)

An aspect of metacognition associated with broader functional abilities in several clinical conditions, but previously unexamined in autism, is self-assessment (i.e., the ability to accurately self-evaluate one’s own performance). We compared self-assessment between 37 autistic adults without intellectual disability to 39 non-autistic (NA) controls on a series of three general cognitive and three social cognitive tasks. Whereas autistic adults and NA adults did not differ in their self-assessment accuracy on general cognitive tasks, they did on social cognitive tasks, with autistic adults demonstrating lower accuracy. The direction of their inaccuracy was variable (i.e., both over and underestimation), and self-assessment was largely unrelated to their level of social functioning. Over versus underestimation may have different functional implications, and warrants future investigation.

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3. Drahota A, Meza RD, Bustos TE, Sridhar A, Martinez JI, Brikho B, Stahmer AC, Aarons GA. Implementation-as-Usual in Community-Based Organizations Providing Specialized Services to Individuals with Autism Spectrum Disorder : A Mixed Methods Study. Adm Policy Ment Health ;2020 (Sep 18)

Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder. ASD community-based organizations (ASD-CBOs) underutilize or inconsistently utilize evidence-based practices (ASD-EBPs) despite numerous available EBPs to treat ASD. Nonetheless, ASD-CBOs implement changes to practices regularly. Understanding ASD-CBO’s implementation-as-usual (IAU) processes may assist to develop strategies to facilitate ASD-EBP adoption, implementation and sustainment. A convergent mixed methods (quan + QUAL) design was utilized. Twenty ASD-CBO agency leaders (ALs) and 26 direct providers (DPs), from 21 ASD-CBOs, completed the Autism Model of Implementation Survey Battery, including demographic and agency IAU process questions. Surveys were analyzed through descriptive and content analyses. A subset of 10 ALs provided qualitative interview data that were analyzed using coding, consensus and comparison methods to allow for a more comprehensive understanding of the IAU process within their ASD-CBOs. Quantitative analyses and qualitative coding were merged utilizing a joint display and compared. Results suggest that the IAU process follows some phases identified in the Exploration, Preparation, Implementation, Sustainment (EPIS) framework but were conducted in an informal manner-lacking specificity, structure and consistency across and within ASD-CBOs. Moreover, data suggest adding a specific adoption decision phase to the framework. Nonetheless, most ALs felt previous implementation efforts were successful. IAU processes were explored to determine whether the implementation process may be an area for intervention to increase ASD-EBP utilization in ASD-CBOs. Developing a systematized implementation process may facilitate broader utilization of high quality ASD-EBPs within usual care settings, and ultimately improve the quality of life for individuals with ASD and their families.

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4. Kaliukhovich DA, Manyakov NV, Bangerter A, Ness S, Skalkin A, Boice M, Goodwin MS, Dawson G, Hendren R, Leventhal B, Shic F, Pandina G. Visual Preference for Biological Motion in Children and Adults with Autism Spectrum Disorder : An Eye-Tracking Study. J Autism Dev Disord ;2020 (Sep 20)

Participants with autism spectrum disorder (ASD) (n = 121, mean [SD] age : 14.6 [8.0] years) and typically developing (TD) controls (n = 40, 16.4 [13.3] years) were presented with a series of videos representing biological motion on one side of a computer monitor screen and non-biological motion on the other, while their eye movements were recorded. As predicted, participants with ASD spent less overall time looking at presented stimuli than TD participants (P < 10(-3)) and showed less preference for biological motion (P < 10(-5)). Participants with ASD also had greater average latencies than TD participants of the first fixation on both biological (P < 0.01) and non-biological motion (P < 0.02). Findings suggest that individuals with ASD differ from TD individuals on multiple properties of eye movements and biological motion preference.

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5. Linke AC, Mash LE, Fong CH, Kinnear MK, Kohli JS, Wilkinson M, Tung R, Jao Keehn RJ, Carper RA, Fishman I, Müller RA. Dynamic time warping outperforms Pearson correlation in detecting atypical functional connectivity in autism spectrum disorders. Neuroimage ;2020 (Sep 17) ;223:117383.

Resting state fMRI (rsfMRI) is frequently used to study brain function, including in clinical populations. Similarity of blood-oxygen-level-dependent (BOLD) fluctuations during rsfMRI between brain regions is thought to reflect intrinsic functional connectivity (FC), potentially due to history of coactivation. To quantify similarity, studies have almost exclusively relied on Pearson correlation, which assumes linearity and can therefore underestimate FC if the hemodynamic response function differs regionally or there is BOLD signal lag between timeseries. Here we show in three cohorts of children, adolescents and adults, with and without autism spectrum disorders (ASDs), that measuring the similarity of BOLD signal fluctuations using non-linear dynamic time warping (DTW) is more robust to global signal regression (GSR), has higher test-retest reliability and is more sensitive to task-related changes in FC. Additionally, when comparing FC between individuals with ASDs and typical controls, more group differences are detected using DTW. DTW estimates are also more related to ASD symptom severity and executive function, while Pearson correlation estimates of FC are more strongly associated with respiration during rsfMRI. Together these findings suggest that non-linear methods such as DTW improve estimation of resting state FC, particularly when studying clinical populations whose hemodynamics or neurovascular coupling may be altered compared to typical controls.

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6. Mayes SD, Calhoun SL, Baweja R, Waschbusch DA. Relative Frequency of Psychiatric, Neurodevelopmental, and Somatic Symptoms as Reported by Mothers of Children with Autism Compared with ADHD and Typical Samples. J Autism Dev Disord ;2020 (Sep 19)

No study has analyzed the relative occurrence of a broad range of symptoms reported by mothers of children with autism, ADHD-Combined, and ADHD-Inattentive and typical controls. Mothers rated 1436 children with autism, 1056 with ADHD without autism, and 186 controls, 2-17 years, on 41 internalizing, externalizing, neurodevelopmental, and somatic problems. Most children with autism had symptoms of ADHD, oppositional defiant disorder, disruptive mood dysregulation disorder, and expressive language disorder and almost half had dysgraphia and receptive language disorder. Symptom overlap between autism and ADHD-Combined was high. Clinicians specializing in autism and ADHD must have expertise in evaluating and treating these comorbidities identified as most problematic by mothers in order to relieve family concerns and develop treatment plans relevant to families.

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7. Mir IN, White SP, Steven Brown L, Heyne R, Rosenfeld CR, Chalak LF. Autism spectrum disorders in extremely preterm infants and placental pathology findings : a matched case-control study. Pediatr Res ;2020 (Sep 19)

BACKGROUND : The prevalence of autism spectrum disorders (ASD) is 5-fold higher in preterm (PT) infants born ≤28 weeks gestational age (GA) as compared to the general population. The relationship between placental pathologic lesions and ASD in PT infants has not been studied. OBJECTIVES : The objective of this study was to determine the association of placental pathology with the occurrence of ASD in PT infants born ≤28 weeks GA. STUDY DESIGN : A matched case-control study to identify confirmed ASD cases (n = 16) and matched controls (n = 48) born at Parkland Hospital between January 2012 and December 2015. Patients were matched using known variables associated with increased risk of ASD in PT infants. Placental histology from all births was reviewed. RESULTS : Children with ASD had 2-fold greater incidence of multiple placental pathologic lesions vs. matched controls [11/16 (69%) vs.16/48 (33%), respectively ; P = 0.01]. In contrast, single placental pathologic lesions were not associated with ASD [5/16 (31%) vs. 21/48 (43%), respectively ; P = 0.1]. CONCLUSIONS : In this study, we have demonstrated an association between the increasing complexity of histologic placental lesions and the later risk for ASD in infants born ≤28 weeks GA. Thus, placental pathology findings may be valuable in further understanding the prenatal pathologic processes underlying ASD in PT infants. IMPACT : PT infants with ASD have a 2-fold greater incidence of multiple placental pathologies.This is the first study to report an association between the complexity of histologic placental lesions and later risk of ASD in infant born extremely PT (i.e., ≤28 weeks GA).This study reiterates the importance of examining placental pathologic lesions, since placental evidence of antenatal insults correlates with postnatal morbidities and mortality in PT infants.Fig. 1GA gestational age, ASD Autism Spectrum Disorder, ADOS-2 Autism Diagnostic Observation Schedule, Second edition, CARS-2 Childhood Autism Rating Scale, Second Edition.

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8. Sam AM, Odom SL, Tomaszewski B, Perkins Y, Cox AW. Employing Evidence-Based Practices for Children with Autism in Elementary Schools. J Autism Dev Disord ;2020 (Sep 19)

The purpose of this study was to test the efficacy of a comprehensive program model originally developed by the National Professional Development Center on Autism Spectrum Disorder (NPDC). Sixty elementary schools with 486 participants were randomly assigned to an NPDC and services as usual condition (SAU). Significantly greater changes in program quality occurred in the inclusive NPDC programs as compared with the SAU schools. Teachers in NPDC schools reported using more evidence-based practices (EBPs) and implemented EBPs with significantly greater fidelity than teachers in SAU schools. Autistic students in NPDC schools had significantly higher total attainment of educational goals than students in SAU schools, and the two groups made equivalent progress on standardized assessment outcomes across the school year.

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9. Sapey-Triomphe LA, Reversat J, Lesca G, Chatron N, Bussa M, Mazoyer S, Schmitz C, Sonié S, Edery P. A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability. Hum Genomics ;2020 (Sep 18) ;14(1):32.

BACKGROUND : In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Among the hundreds of de novo pathogenic variants reported in ASD, single-nucleotide variations and small insertions/deletions were reported in TBR1. This gene encodes a transcription factor that plays a key role in brain development. Pathogenic variants in TBR1 are often associated with severe forms of ASD, including intellectual disability and language impairment. METHODS : Adults diagnosed with ASD but without intellectual disability (diagnosis of Asperger syndrome, according to the DSM-IV) took part in a genetic consultation encompassing metabolic assessments, a molecular karyotype and the screening of a panel of 268 genes involved in intellectual disability, ASD and epilepsy. In addition, the patient reported here went through a neuropsychological assessment, structural magnetic resonance imaging and magnetic resonance spectroscopy measurements. RESULTS : Here, we report the case of a young adult male who presents with a typical form of ASD. Importantly, this patient presents with no intellectual disability or language impairment, despite a de novo heterozygous frameshift pathogenic variant in TBR1, leading to an early premature termination codon (c.26del, p.(Pro9Leufs*12)). CONCLUSION : Based on this case report, we discuss the role of TBR1 in general brain development, language development, intellectual disability and other symptoms of ASD. Providing a detailed clinical description of the individuals with such pathogenic variants should help to understand the genotype-phenotype relationships in ASD.

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10. Staley T. Male preconception antioxidant supplementation may lower autism risk : a call for studies. J Assist Reprod Genet ;2020 (Sep 19)

Current research indicates that a sizable number of autism spectrum disorder (ASD) cases arise from de novo mutations (DNMs) occurring within the paternal germline, usually in an age-dependent manner. Andrologists have reported that somatic cells and gametes share the same pathologies that generate these DNMs-specifically, DNA hypomethylation caused by oxidative nucleoside base damage. Because many ASD researchers seek to identify genetic risk factors, teams are developing methods of assessing aberrant DNA patterns, such as parental gonadal mosaicism. Several studies propose antioxidant supplementation as a strategy to lower autism risk, and/or suggest connections between childhood neurodevelopmental disorders such as autism and paternally-derived DNMs. Actual data, however, are currently not available to determine whether male preconception antioxidant supplementation effectively lowers autism risk. The purpose of this paper is to (1) explore the mechanisms causing DNMs, specifically DNA hypomethylation ; (2) explain how antioxidant supplementation may lower the risk of having a child with ASD ; and, (3) advocate for the implementation of large prospective studies testing (2). These studies may very well find that male preconception supplementation with antioxidants prevents neurodevelopmental disorders in offspring, in much the same way that female prenatal consumption of folate was found to decrease the risk of birth defects. If this is indeed the case, the alarming rise in autism prevalence rates of the past few decades will slow-or even cease-upon the initiation of public awareness campaigns.

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11. Vitti-Ruela BV, Dokkedal-Silva V, Morelhão PK, Xavier SD, Tufik S, Andersen ML. Insomnia and Treatment Strategies : Improving Quality of Life in Children with Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Sep 19)

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