Pubmed du 19/09/20

samedi 19 septembre 2020

1. Athar YM, Joseph S. The Human Fragile X Mental Retardation Protein Inhibits the Elongation Step of Translation through its RGG and C-terminal domains. Biochemistry ;2020 (Sep 18)

Fragile X mental retardation protein (FMRP) is an RNA-binding protein that regulates the translation of numerous mRNAs in neurons. The precise mechanism of translational regulation by FMRP is unknown. Some studies have indicated that FMRP inhibits the initiation step of translation, whereas other studies have indicated that the elongation step of translation is inhibited by FMRP. To determine whether FMRP inhibits the initiation or the elongation step of protein synthesis, we investigated m7G-cap-dependent and IRES-driven, cap-independent translation of several reporter mRNAs in vitro. Our results show that FMRP inhibits both m7G-cap-dependent and cap-independent translation to similar degrees, indicating that the elongation step of translation is inhibited by FMRP. Additionally, we dissected the RNA-binding domains of hFMRP to determine the essential domains for inhibiting translation. We show that the RGG domain, together with the C-terminal domain (CTD), is sufficient to inhibit translation while the KH domains do not inhibit mRNA translation. However, the region between the RGG domain and the KH2 domain may contribute as NT-hFMRP shows more potent inhibition than the RGG-CTD tail alone. Interestingly, we see a correlation between ribosome binding and translation inhibition, suggesting the RGG-CTD tail of hFMRP may anchor FMRP to the ribosome during translation inhibition.

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2. Ayatollahi A, Bagheri S, Ashraf-Ganjouei A, Moradi K, Mohammadi MR, Akhondzadeh S. Does Pregnenolone Adjunct to Risperidone Ameliorate Irritable Behavior in Adolescents With Autism Spectrum Disorder : A Randomized, Double-Blind, Placebo-Controlled Clinical Trial ?. Clin Neuropharmacol ;2020 (Sep/Oct) ;43(5):139-145.

OBJECTIVES : Pregnenolone is a neurosteroid with modulatory effects on γ-aminobutyric acid neurotransmission. Here, we aimed to evaluate the effectiveness and safety of pregnenolone add-on to risperidone in adolescents with autism spectrum disorders (ASD). METHODS : Sixty-four ASD patients were randomly allocated to receive either pregnenolone (n = 32) or matching placebo (n = 32) in addition to risperidone. The Aberrant Behavior Checklist-Community Edition scale was used to evaluate the behavioral status of patients at baseline, week 5, and the trial end point. The change in score of irritability subscale was the primary outcome. Frequency of adverse effects due to trial medications was compared between the treatment groups. RESULTS : Fifty-nine patients completed the trial (30 in pregnenolone and 29 in the placebo arm). Baseline characteristics of both treatment groups were similar (P > 0.05). Repeated measures analysis was suggestive of greater exhibited improvement for the pregnenolone group on irritability, stereotypy, and hyperactivity subscales of the Aberrant Behavior Checklist-Community Edition over the trial period (F = 3.84, df = 1.96, P = 0.025 ; F = 4.29, df = 1.39, P = 0.029 ; F = 6.55, df = 1.67, P = 0.004, respectively). Nonetheless, the alterations in lethargy and inappropriate speech domains scores were similar for both arms (F = 0.93, df = 1.49, P = 0.375 ; F = 1.10, df = 1.60, P = 0.325, respectively). There was no significant difference in frequency as well as severity of adverse effects between the 2 groups. CONCLUSIONS : Pregnenolone adjunct to risperidone could attenuate core features associated with ASD.

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3. Cascia J, Barr JJ. Associations among parent and teacher ratings of systemizing, vocabulary and executive function in children with autism spectrum disorder. Res Dev Disabil ;2020 (Sep 15) ;106:103779.

Individuals with Autism Spectrum Disorder (ASD) show a heightened drive toward systemizing, which is the capability to analyze, or the drive to construct, a rule-based system. In addition, executive function deficits as well as diminished language capacity and vocabulary have been consistently demonstrated in individuals with ASD. The primary purpose of this study was to create a model to understand how these constructs interact in children with ASD. Forty-six children diagnosed with ASD along with their parents and teachers participated. All children completed standardized vocabulary testing. For each child, one parent and one teacher completed executive function and systemizing scales. For parents and teachers, systemizing was significantly associated with vocabulary. For parents, systematizing was significantly associated with all executive function subscales, however, for teachers, systemizing was only significantly associated with half of the executive function subscales. The mediation model indicated that the relationship between vocabulary and systemizing was fully mediated by executive function for parents but the model was not significant for teachers. This model demonstrates that systemizing, vocabulary and executive function should not be studied in isolation when attempting to understand the behaviors of children with ASD and can help us to better plan educational and therapeutic interventions.

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4. Cerasa A, Ruta L, Marino F, Biamonti G, Pioggia G. Brief Report : Neuroimaging Endophenotypes of Social Robotic Applications in Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Sep 18)

A plethora of neuroimaging studies have focused on the discovery of potential neuroendophenotypes useful to understand the etiopathogenesis of autism and predict treatment response. Social robotics has recently been proposed as an effective tool to strengthen the current treatments in children with autism. However, the high clinical heterogeneity characterizing this disorder might interfere with behavioral effects. Neuroimaging is set to overcome these limitations by capturing the level of heterogeneity. Here, we provide a preliminary evaluation of the neural basis of social robotics and how extracting neural hallmarks useful to design more effective behavioral applications. Despite the endophenotype-oriented neuroimaging research approach is in its relative infancy, this preliminary evidence encourages innovation to address its current limitations.

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5. Dwyer P, Saron CD, Rivera SM. Identification of Longitudinal Sensory Subtypes in Typical Development and Autism Spectrum Development Using Growth Mixture Modelling. Res Autism Spectr Disord ;2020 (Oct) ;78

BACKGROUND : Prior longitudinal investigations of trajectories of sensory features in Autism Spectrum Development (ASD) have not explored heterogeneity. The present study explores initial levels and trajectories of sensory features in ASD as well as, for comparison, typical development. METHOD : Growth mixture modelling was used to explore classes of autistic and typically-developing participants based on caregiver-reported total sensory behaviours on the Short Sensory Profile (SSP) at two time points, when children were aged 2-5 and 4-10 years of age, respectively. RESULTS : Three classes are described : a mixed class of autistic and typically-developing participants with few problematic sensory behaviours ("Stable Mild"), a mostly-autistic class with more problematic sensory features ("Stable Intense"), and a small class of autistic participants whose sensory features reportedly worsened ("Increasingly Intense"). Autistic participants in the Stable Intense class exhibited high anxiety, while autistic participants in the Increasingly Intense class appeared to obtain high scores on cognitive assessments. CONCLUSIONS : The heterogeneity of sensory features and challenges found in the present study may suggest that practitioners should conduct individualized assessments of sensory features in ASD. Furthermore, practitioners should be aware of links between sensory features and anxiety in ASD, which may imply that sensory accommodations and supports could protect against anxiety. Finally, the worsening of sensory features over time in the Increasingly Intense subgroup may indicate a need for continued monitoring of changes in sensory features, perhaps especially as sensory environments change during periods of transition.

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6. Floyd S, Jeppsen C, Goldberg AE. Brief Report : Children on the Autism Spectrum are Challenged by Complex Word Meanings. J Autism Dev Disord ;2020 (Sep 18)

The current work suggests that two factors conspire to make vocabulary learning challenging for youth on the Autism spectrum : (1) a tendency to focus on specifics rather than on relationships among entities and (2) the fact that most words are associated with distinct but related meanings (e.g. baseball cap, pen cap, bottle cap). Neurotypical (NT) children find it easier to learn multiple related meanings of words (polysemy) in comparison to multiple unrelated meanings (homonymy). We exposed 60 NT children and 40 verbal youth on the Autism spectrum to novel words. The groups’ performance learning homonyms was comparable, but unlike their NT peers, youth on the spectrum did not display the same advantage for learning polysemous words compared to homonyms.

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7. Freckelton I. Autism spectrum disorder and suitability for extradition : Love v the Government of the United States [2018] 1 WLR 2889 ; [2018] EWHC 172 (Admin) per Burnett LCJ and Ouseley J. Psychiatr Psychol Law ;2020 ;27(2):181-191.

Applications for extradition of persons with autism spectrum disorder (ASD) have the potential to raise complex issues in relation to mental health experts’ evaluation of the impact of removal of a person from their own country’s sources of familial support to another country’s custodial environment. These issues were traversed at length in relation to the risks posed by applications for extradition of the English computer hacker, Gary McKinnon, which resulted in executive intervention to enable him to remain in the United Kingdom and in important legislative amendments, by way of the institution of a ’forum bar’. In 2018 the Court of Appeal in Love v The Government of the United States [2018] 1 WLR 2889 ; [2018] EWHC 172 (Admin) delivered a ground-breaking judgment rejecting the extradition of another computer hacker, Lauri Love, who suffered from ASD and other comorbidities. The decision is an important precedent in its interpretation of the new forum bar provisions, the way in which forensic mental health evidence was adduced in the context of ASD symptomatology and evaluated by the court, and the finding that removal of Mr Love to the United States penal system would be unacceptably oppressive.

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8. Georgiou G, Fanti KA. Physiological reactivity in children with high callous-unemotional and autistic traits : investigating unique and interactive effects. Eur Child Adolesc Psychiatry ;2020 (Sep 17)

Empathy deficits are a hallmark sign of both callous-unemotional (CU) and autistic traits. Despite these similarities, prior work did not investigate how these traits relate to physiological reactivity (heart rate and skin conductance) in response to emotional or empathy-eliciting stimuli. Understanding the physiological mechanisms associated with emotional processing deficits among individuals with autistic or CU traits is a critical step for improving both assessment and interventions. The current study was designed to investigate the unique and interactive contributions of CU and autistic traits in predicting physiological reactivity. Heart rate (HR) and skin conductance (SC) activity in response to sad, fearful and happy emotional videos were collected form young children. Participants for the current study (n = 163 ; M(age) = 7.30, SD= 1.42 ; 44.2% girls) were recruited from a larger community sample of 1652 children and were selected based on their levels of empathy. Regression analysis revealed that boys, but not girls, with high levels of CU traits exhibited low SC reactivity during sad and fearful stimuli. No significant associations were revealed for autistic traits. Finally, an interesting interaction effect suggested that CU traits were associated with stronger HR reactivity to fear stimuli only when autistic traits were low. The identified differences in physiological reactivity can inform etiological hypothesis by providing evidence for the underlying physiological mechanisms related to emotional processing among children high in CU traits but not in autistic traits.

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9. Iadarola S, Pellecchia M, Stahmer A, Lee HS, Hauptman L, Hassrick EM, Crabbe S, Vejnoska S, Morgan E, Nuske H, Luelmo P, Friedman C, Kasari C, Gulsrud A, Mandell D, Smith T. Mind the gap : an intervention to support caregivers with a new autism spectrum disorder diagnosis is feasible and acceptable. Pilot Feasibility Stud ;2020 ;6:124.

INTRODUCTION : Children with autism spectrum disorder (ASD) benefit when their caregivers can effectively advocate for appropriate services. Barriers to caregiver engagement such as provider mistrust, cultural differences, stigma, and lack of knowledge can interfere with timely service access. We describe Mind the Gap (MTG), an intervention that provides education about ASD, service navigation, and other topics relevant to families whose children have a new ASD diagnosis. MTG was developed via community partnerships and is explicitly structured to reduce engagement barriers (e.g., through peer matching, meeting flexibility, culturally-informed practices). We also present on the results of a pilot of MTG, conducted in preparation for a randomized controlled trial. METHODS : MTG was evaluated using mixed methods that included qualitative analysis and pre/post-test without concurrent comparison group. Participants (n=9) were primary caregivers of children (ages 2-7 years) with a recent ASD diagnosis and whose annual income was at or below 185% of the federal poverty level. In order to facilitate trust and relationship building, peer coaches delivered MTG. The coaches were parents of children with ASD who we trained to deliver the intervention. MTG consisted of up to 12 meetings between coaches and caregivers over the course of 18 weeks. Coaches delivered the intervention in homes and other community locations. Coaches shared information about various "modules," which were topics identified as important for families with a new ASD diagnosis. Coaches worked with families to answer questions, set weekly goals, assess progress, and offer guidance. For the pilot, we focused on three primary outcomes : feasibility, engagement, and satisfaction. Feasibility was measured via enrollment and retention data, as well as coach fidelity (i.e., implementation of MTG procedures). Engagement was measured via number of sessions attended and percentage completion of the selected outcome measures. For completers (n=7), satisfaction was measured via a questionnaire (completed by caregivers) and open-ended interviews (completed by caregivers and coaches). RESULTS : We enrolled 56% of referred caregivers and 100% of eligible families. Retention was high (78%). Coaches could deliver the intervention with fidelity, completing, on average, 83% of program components. Engagement also was high ; caregivers attended an average of 85% of total possible sessions and completed 100% of their measures. Caregivers indicated moderately high satisfaction with MTG. Qualitative data indicated that caregivers and coaches were positive about intervention content, and the coach-caregiver relationship was important. They also had suggestions for changes. CONCLUSION : Mind the Gap demonstrates evidence of feasibility, and data from the pilot suggest that it addresses intervention engagement barriers for a population that is under-represented in research. The results and suggestions from participants were used to inform a large-scale RCT, which is currently underway. Overall, MTG shows promise as an intervention that can be feasibly implemented with under-resourced and ethnic minority families of children with ASD. TRIAL REGISTRATION : This study is registered with ClinicalTrials.gov : NCT03711799.

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10. Ishizuka K, Yoshida T, Kawabata T, Imai A, Mori H, Kimura H, Inada T, Okahisa Y, Egawa J, Usami M, Kushima I, Morikawa M, Okada T, Ikeda M, Branko A, Mori D, Someya T, Iwata N, Ozaki N. Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia. J Neurodev Disord ;2020 (Sep 17) ;12(1):25.

BACKGROUND : Rare genetic variants contribute to the etiology of both autism spectrum disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene-disrupting mutations because they are relatively easier to interpret their effects on the gene product. Interpretation of missense variants is also informative to some pathophysiological mechanisms of these neurodevelopmental disorders ; however, their contribution has not been elucidated because of relatively small effects. Therefore, we characterized missense variants detected in NRXN1, a well-known neurodevelopmental disease-causing gene, from individuals with ASD and SCZ. METHODS : To discover rare variants with large effect size and to evaluate their role in the shared etiopathophysiology of ASD and SCZ, we sequenced NRXN1 coding exons with a sample comprising 562 Japanese ASD and SCZ patients, followed by a genetic association analysis in 4273 unrelated individuals. Impact of each missense variant detected here on cell surface expression, interaction with NLGN1, and synaptogenic activity was analyzed using an in vitro functional assay and in silico three-dimensional (3D) structural modeling. RESULTS : Through mutation screening, we regarded three ultra-rare missense variants (T737M, D772G, and R856W), all of which affected the LNS4 domain of NRXN1α isoform, as disease-associated variants. Diagnosis of individuals with T737M, D772G, and R856W was 1ASD and 1SCZ, 1ASD, and 1SCZ, respectively. We observed the following phenotypic and functional burden caused by each variant. (i) D772G and R856W carriers had more serious social disabilities than T737M carriers. (ii) In vitro assay showed reduced cell surface expression of NRXN1α by D772G and R856W mutations. In vitro functional analysis showed decreased NRXN1α-NLGN1 interaction of T737M and D772G mutants. (iii) In silico 3D structural modeling indicated that T737M and D772G mutations could destabilize the rod-shaped structure of LNS2-LNS5 domains, and D772G and R856W could disturb N-glycan conformations for the transport signal. CONCLUSIONS : The combined data suggest that missense variants in NRXN1 could be associated with phenotypes of neurodevelopmental disorders beyond the diagnosis of ASD and/or SCZ.

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11. Jiwa MI, Armstrong S, Shao Y, Lunsky Y. Development of educational modules for MRTs to better support patients with intellectual and developmental disabilities undergoing imaging procedures : A collaborative patient-oriented initiative. J Med Imaging Radiat Sci ;2020 (Sep 14)

BACKGROUND : Patients with intellectual and developmental disabilities (IDD) experience increased anxiety when undergoing medical imaging procedures for a variety of reasons including sensory overload, comprehension difficulty, and meeting unfamiliar people. There are several strategies that medical radiation technologists (MRTs) can apply to improve the imaging process. The purpose of this project was to work together with patients to develop educational modules and resources for MRTs on how to best support patients with IDD during medical imaging procedures. DEVELOPMENT PROCESS AND FINDINGS : The project team used a four stage process to (1) determine the educational needs of MRTs around imaging procedures for people with IDD and (2) develop a series of online case-based video modules of challenges and improved practices with accompanying digital resources. First, the project team created and distributed a needs assessment survey to MRTs to identify their educational needs, experience, and interest in learning more about how to best support patients with IDD. The results from this needs assessment underscored that developing skills to better support patients with IDD was an area of interest and need amongst OAMRS members, which led to the formation of a working group whose goal was to identify priority topics and how to best teach these topics. Second, we conducted a focus group with adults with IDD, who had experience with imaging procedures, to ensure the lived experience of people with IDD was a pillar of the modules. Third, we developed a set of video scripts and educational slides, informed by the needs assessment with MRTs and the focus group with adults with IDD. The video scripts focused on four scenarios : (1) Waiting for an imaging procedure, (2) & (3) the imaging process (MRI and PET), and (4) the exit interview. Each of these videos focused on common practice errors made during these scenarios, followed by strategies to address those errors. The educational slides focused on : (1) an introduction to people with IDD (2) Communication and (3) Triggers and Strategies. The fourth and final phase focused on filming the teaching videos with actors with IDD and finalizing the educational slides. Together, the set of educational slides and videos formed the modules for MRTs that will be published online. LESSONS LEARNED : Undertaking this process to develop educational modules for MRTs on working with people with IDD taught us that people with IDD have lived experiences which should inform the development of educational material ; they must be treated as partners during this development process ; and a partnered process takes time to carry out. CONCLUSION : The process that was undertaken allowed the team to develop resources, which can be used by MRTs. Evaluation of the educational modules can inform further refinement and improvement.

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12. Lee CE, Kim KM. Future planning for individuals with intellectual and developmental disabilities : Perspectives of siblings in South Korea. J Appl Res Intellect Disabil ;2020 (Sep 17)

BACKGROUND : Future planning has emerged as a global issue for families of individuals with intellectual and developmental disabilities due to the longer lives and limited long-term services and supports in the adult disability system. While it has received greater attention, most future planning studies only included parents of individuals with intellectual and developmental disabilities within the context of European or American countries. The purpose of this study was to examine future planning among siblings of individuals with intellectual and developmental disabilities in South Korea. METHOD : In this study, 185 Korean siblings of individuals with intellectual and developmental disabilities responded to a survey. RESULTS : Few siblings engaged in future planning activities and reported a range of barriers to conduct future planning. Further, greater future planning involvement was associated with older siblings, greater advocacy level and greater sibling caregiving. CONCLUSION : For future research, culturally relevant measures and intervention should be addressed.

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13. Lee D, Frey GC, Min A, Kim B, Cothran DJ, Bellini S, Han K, Shih PC. Usability inquiry of a gamified behavior change app for increasing physical activity and reducing sedentary behavior in adults with and without autism spectrum disorder. Health Informatics J ;2020 (Sep 19):1460458220952909.

The purpose of this study was to conduct the first usability inquiry of a gamified, behavior change theory-guided mobile app PuzzleWalk for increasing physical activity and reducing sedentary behavior in adults with and without autism spectrum disorder (ASD). Eighteen adults with and without ASD participated in a mixed-methods study that consisted of cognitive walkthrough, system usability assessment, and qualitative interviews. The results of the system usability testing indicated satisfactory quality of the PuzzleWalk system that can be readily applicable to both adults with and without ASD. Several notable issues were identified from the qualitative interviews that address critical insights into unique health and social needs in adults with ASD. Future work is warranted to examine the long-term effects of the PuzzleWalk system on increasing physical activity and reducing sedentary behavior in adults with and without ASD in real-world settings.

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14. Lee EC, Hu VW. Phenotypic Subtyping and Re-Analysis of Existing Methylation Data from Autistic Probands in Simplex Families Reveal ASD Subtype-Associated Differentially Methylated Genes and Biological Functions. Int J Mol Sci ;2020 (Sep 19) ;21(18)

Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with core deficits in social communication and manifestation of restricted, repetitive, and stereotyped behaviors. Despite the core symptomatology, ASD is extremely heterogeneous with respect to the severity of symptoms and behaviors. This heterogeneity presents an inherent challenge to all large-scale genome-wide omics analyses. In the present study, we address this heterogeneity by stratifying ASD probands from simplex families according to the severity of behavioral scores on the Autism Diagnostic Interview-Revised diagnostic instrument, followed by re-analysis of existing DNA methylation data from individuals in three ASD subphenotypes in comparison to that of their respective unaffected siblings. We demonstrate that subphenotyping of cases enables the identification of over 1.6 times the number of statistically significant differentially methylated regions (DMR) and DMR-associated genes (DAGs) between cases and controls, compared to that identified when all cases are combined. Our analyses also reveal ASD-related neurological functions and comorbidities that are enriched among DAGs in each phenotypic subgroup but not in the combined case group. Moreover, relational gene networks constructed with the DAGs reveal signaling pathways associated with specific functions and comorbidities. In addition, a network comprised of DAGs shared among all ASD subgroups and the combined case group is enriched in genes involved in inflammatory responses, suggesting that neuroinflammation may be a common theme underlying core features of ASD. These findings demonstrate the value of phenotype definition in methylomic analyses of ASD and may aid in the development of subtype-directed diagnostics and therapeutics.

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15. 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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16. 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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17. Qiao Y, Hu Q, Xuan R, Guo Q, Ge Y, Chen H, Zhu C, Ji G, Yu F, Wang K, Zhang L. High-Definition Transcranial Direct Current Stimulation Facilitates Emotional Face Processing in Individuals with High Autistic Traits : A Sham-Controlled Study. Neurosci Lett ;2020 (Sep 19):135396.

The deficit in emotional face processing is a critical impairment for individuals with high autistic traits. The temporalparietal junction(TPJ) is considered to be closely related to emotional face processing. The aim of this study was to examine the effect of highdefinition transcranial direct current stimulation (HD-tDCS) over the right temporal-parietal junction (rTPJ) on facial emotion processing of individuals with high autistic traits using eye-tracking technology. Twenty-nine participants with high autistic traits completed an eyetracking task (including happy, fearful and neutral faces) before and after five consecutive days of stimulation (anodal or sham). Results showed that anodal HD-tDCS significantly increased fixation time and fixation count in the mouth area, but this effect was not found after the sham stimulation. Moreover, this increased effect of mouth recognition with anodal rTPJ HD-tDCS was shown in both happy and fearful faces, but no remarkable difference was found in neutral faces. These findings suggest that right TPJ anodal HD-tDCS can facilitate emotional face processing in individuals with high autistic traits.

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18. Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ. Double Genetic Hit : Fragile X Syndrome and Partial Deletion of Protein Patched Homolog 1 Antisense as Cause of Severe Autism Spectrum Disorder. J Dev Behav Pediatr ;2020 (Sep 15)

BACKGROUND : Fragile X syndrome (FXS) is an X-linked genetic disorder caused by the absence of the fragile X mental retardation 1 protein. FXS is the most common inherited cause of intellectual disability and autism spectrum disorder (ASD). Approximately 60% of subjects with FXS present with ASD, and 2% to 4% of individuals diagnosed with ASD have FXS. Most individuals with ASD have a genetic disorder, so detailed molecular testing of individuals with ASD is medically indicated. Deletions of the protein patched homolog 1 antisense (PTCHD1-AS) gene have been associated with ASD. Here, we describe, for the first time, a boy with FXS because of a point mutation in the FMR1 gene and autism, and the latter comorbidity of ASD is likely because of a deletion of PTCHD1-AS. Thus, the observed phenotype of FXS with severe autism symptoms is likely caused by a double hit of genetic mutations. CASE PRESENTATION : The case is a 5-year-old boy with phenotypic characteristics of FXS. The psychological assessment based on parent report and the Autism Diagnostic Observation Schedule, Second Edition identified severe difficulties on every item of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnostic criteria for ASD, with language impairment, anxiety, attention, and affective problems. Exome sequencing identified a de novo pathogenic variant in the FMR1 gene c.229delT (p.Cys77Alafs*5) and, coupled with comparative genomic hybridization, also diagnosed a maternally inherited partial deletion of the PTCHD1-AS gene. CONCLUSION : Fragile X syndrome presents with clinical features in virtually all affected men, predominantly intellectual disability. However, there are other comorbidities present in a subset of patients, including ASD. We propose that the variable expressivity in FXS could be partially explained by the additive effect of a second genetic mutation that increases the individual susceptibility to the unique phenotypic findings, as is the case of the patient described here.

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19. 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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20. Sarovic D, Hadjikhani N, Schneiderman J, Lundström S, Gillberg C. Autism classified by magnetic resonance imaging : A pilot study of a potential diagnostic tool. Int J Methods Psychiatr Res ;2020 (Sep 18):e1846.

OBJECTIVES : Individual anatomical biomarkers have limited power for the classification of autism. The present study introduces a multivariate classification approach using structural magnetic resonance imaging data from individuals with and without autism. METHODS : The classifier utilizes z-normalization, parameter weighting, and interindividual comparison on brain segmentation data, for estimation of an individual summed total index (TI). The TI indicates whether the gross morphological pattern of each individual’s brain is in the direction of cases or controls. RESULTS : Morphometric analysis found significant differences within subcortical gray matter structures and limbic areas. There was no significant difference in total brain volume. A case-control pilot-study of TIs in normally intelligent individuals with autism (24) and without (21) yielded a maximal accuracy of 78.9% following cross-validation. It showed a high accuracy compared with machine learning methods when tested on the same dataset. The TI correlated well with the autism quotient (R = 0.51) across groups. CONCLUSION : These results are on par with studies on autism using machine learning. The main contributions are its transparency and simplicity. The possibility of including additional neuroimaging data further increases the potential of the classifier as a diagnostic aid for neuropsychiatric disorders, as well as a research tool for neuroscientific investigations.

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21. Shelton AR, Malow B. Treatment of insomnia in children and adolescents with autism spectrum disorder. Lancet Child Adolesc Health ;2020 (Oct) ;4(10):716-717.

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22. 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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23. Tang S, Xu Y, Liu X, Chen Z, Zhou Y, Nie L, He L. Quantitative susceptibility mapping shows lower brain iron content in children with autism. Eur Radiol ;2020 (Sep 18)

OBJECTIVE : To explore the application of quantitative susceptibility mapping (QSM) of brain iron content in children with autism. METHODS : For the control group, 40 normal children aged 2-3, 3-4, 4-5, and 5-6 years were prospectively selected from June 2018 to December 2018, with equal numbers of males and females in each age group. For the study group, 40 children with autism aged 2-3, 3-4, 4-5, and 5-6 years were prospectively selected from January 2019 to October 2019 ; once again, there were equal numbers of males and females in each age group. All children received routine head MRI scans and enhanced T2*-weighted angiography (ESWAN) sequence scans, and the ESWAN sequence images were processed by software to obtain magnetic susceptibility maps. The regions of interest (ROIs) of the frontal white matter, frontal gray matter, thalamus, red nucleus, substantia nigra, dentate nucleus, globus pallidus, putamen nucleus, caudate nucleus, pons, and splenium of the corpus callosum were selected, and the magnetic susceptibility values were measured. The differences in magnetic susceptibility between the two groups were compared in children at the same age. RESULTS : For the children aged 2-3 years, the magnetic susceptibility values in the caudate nucleus, dentate nucleus, and splenium of the corpus callosum in the study group were lower than those in the control group (p < 0.05). For the children aged 3-4, 4-5, and 5-6 years, the magnetic susceptibility values in the frontal white matter, caudate nucleus, red nucleus, substantia nigra, dentate nucleus, and splenium of the corpus callosum in the study group were lower than those in the control group (p < 0.05). CONCLUSION : The brain iron content of children with autism is lower than that of normal children. TRIAL REGISTRATION : This study protocol was registered at the Chinese clinical trial registry (registration number : ChiCTR2000029699 ; http://www.chictr.org.cn/searchprojen.aspx ). KEY POINTS : • In this study, the brain iron content of normal children and children with autism was compared to identify the differences, which provided a new objective basis for the early diagnosis of children with autism. • This study examined the iron content values in various brain regions of normal children aged 2-6 years in this region and established a reference range for iron content in various brain regions of normal children in one geographical area, providing a reliable and objective standard for the diagnosis and treatment of some brain diseases in children. • The results of this study indicate that the brain iron content of preschool children with autism is lower than that of normal preschool children.

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24. 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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