Pubmed du 18/09/20

vendredi 18 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. 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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3. 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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4. Chan DV, Klinger MR, Adkisson KA, Klinger LG. Examining Environmental Predictors of Community Participation for Adults with Autism Spectrum Disorder Using Geographic Information Systems (GIS). J Autism Dev Disord ;2020 (Sep 16)

A geographic information system (GIS) approach systematically assessed whether population density and distribution of community resources contributed to caregiver reported community participation outcomes for 124 adults with autism spectrum disorder (ASD). Regression analyses examined whether GIS measures predicted community participation in areas of social activities and use of services, while also accounting for adult age, conversation ability, and daily living skills (DLS). Results indicated that in addition to person factors of greater DLS and better conversation ability, access to specific community features, such as bus stops, contributed to improved participation. Unexpectedly, population density where one lived made minimal contribution to participation outcomes, except in getting together with friends outside of organized activities.

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5. Constantin L, Poulsen RE, Scholz LA, Favre-Bulle IA, Taylor MA, Sun B, Goodhill GJ, Vanwalleghem GC, Scott EK. Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome. BMC Biol ;2020 (Sep 16) ;18(1):125.

BACKGROUND : Loss or disrupted expression of the FMR1 gene causes fragile X syndrome (FXS), the most common monogenetic form of autism in humans. Although disruptions in sensory processing are core traits of FXS and autism, the neural underpinnings of these phenotypes are poorly understood. Using calcium imaging to record from the entire brain at cellular resolution, we investigated neuronal responses to visual and auditory stimuli in larval zebrafish, using fmr1 mutants to model FXS. The purpose of this study was to model the alterations of sensory networks, brain-wide and at cellular resolution, that underlie the sensory aspects of FXS and autism. RESULTS : Combining functional analyses with the neurons’ anatomical positions, we found that fmr1(-/-) animals have normal responses to visual motion. However, there were several alterations in the auditory processing of fmr1(-/-) animals. Auditory responses were more plentiful in hindbrain structures and in the thalamus. The thalamus, torus semicircularis, and tegmentum had clusters of neurons that responded more strongly to auditory stimuli in fmr1(-/-) animals. Functional connectivity networks showed more inter-regional connectivity at lower sound intensities (a - 3 to - 6 dB shift) in fmr1(-/-) larvae compared to wild type. Finally, the decoding capacities of specific components of the ascending auditory pathway were altered : the octavolateralis nucleus within the hindbrain had significantly stronger decoding of auditory amplitude while the telencephalon had weaker decoding in fmr1(-/-) mutants. CONCLUSIONS : We demonstrated that fmr1(-/-) larvae are hypersensitive to sound, with a 3-6 dB shift in sensitivity, and identified four sub-cortical brain regions with more plentiful responses and/or greater response strengths to auditory stimuli. We also constructed an experimentally supported model of how auditory information may be processed brain-wide in fmr1(-/-) larvae. Our model suggests that the early ascending auditory pathway transmits more auditory information, with less filtering and modulation, in this model of FXS.

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6. Deb S, Nancarrow T, Limbu B, Sheehan R, Wilcock M, Branford D, Courtenay K, Perera B, Shankar R. UK psychiatrists’ experience of withdrawal of antipsychotics prescribed for challenging behaviours in adults with intellectual disabilities and/or autism. BJPsych Open ;2020 (Sep 17) ;6(5):e112.

BACKGROUND : A high proportion of adults with intellectual disabilities are prescribed off-licence antipsychotics in the absence of a psychiatric illness. The National Health Service in England launched an initiative in 2016, ’Stopping over-medication of people with a learning disability [intellectual disability], autism or both’ (STOMP), to address this major public health concern. AIMS : To gain understanding from UK psychiatrists working with adults with intellectual disabilities on the successes and challenges of withdrawing antipsychotics for challenging behaviours. METHOD : An online questionnaire was sent to all UK psychiatrists working in the field of intellectual disability (estimated 225). RESULTS : Half of the 88 respondents stated that they started withdrawing antipsychotics over 5 years ago and 52.3% stated that they are less likely to initiate an antipsychotic since the launch of STOMP. However, since then, 46.6% are prescribing other classes of psychotropic medication instead of antipsychotics for challenging behaviours, most frequently the antidepressants. Complete antipsychotic discontinuation in over 50% of patients treated with antipsychotics was achieved by only 4.5% of respondents (n = 4) ; 11.4% reported deterioration in challenging behaviours in over 50% of patients on withdrawal and the same proportion (11.4%) reported no deterioration. Only 32% of respondents made the diagnosis of psychiatric illness in all their patients themselves. Family and paid carers’ concern, lack of multi-agency and multidisciplinary input and unavailability of non-medical psychosocial intervention are key reported factors hampering the withdrawal attempt. CONCLUSIONS : There is an urgent need to develop national guidelines to provide a framework for systematic psychotropic drug reviews and withdrawal where possible.

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7. Deng W, Nishiyori R, Vanderbilt DL, Smith BA. How Many Days are Necessary to Represent Typical Daily Leg Movement Behavior for Infants at Risk of Developmental Disabilities ?. Sensors (Basel) ;2020 (Sep 18) ;20(18)

BACKGROUND : Movement characteristics can differentiate between infants at risk and infants with typical development. However, it is unknown how many days are needed to accurately represent typical daily behavior for infants at risk of developmental disabilities when using wearable sensors. To consider the balance between participant burden and the amount of data collected and optimizing the efficiency of data collection, our study determined (1) how many days were necessary to represent typical movement behavior for infants at risk of developmental disabilities and (2) whether movement behavior was different on weekend days and weekdays. METHODS : We used Opal wearable sensors to collect at least 5 days of 11 infants’ leg movement data. The standard (average of 5 days) was compared with four methods (average of the first 1/2/3/4 days) using the Bland-Altman plots and the Spearman correlation coefficient. We also compared the data from the average of 2 weekend days to the average of the first 2 weekdays for 8 infants. RESULTS : The Spearman correlation coefficient comparing the average of the first 2 days of data and the standards were all above 0.7. The absolute differences between them were all below 10% of the standards. The Bland-Altman plots showed more than 90% of the data points comparing the average of 2 days and the standards fell into the limit of agreement for each variable. The absolute difference between weekend days and weekdays for the leg movement rate, duration, average acceleration, and peak acceleration was 15.2%, 1.7%, 6.8% and 6.3% of the corresponding standard, respectively. CONCLUSION : Our results suggest 2 days is the optimal amount of data to represent typical daily leg movement behavior of infants at risk of developmental disabilities while minimizing participant burden. Further, leg movement behavior did not differ distinctly across weekend days and weekdays. These results provide supportive evidence for an efficient amount of data collections when using wearable sensors to evaluate movement behavior in infants at risk of developmental disabilities.

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8. 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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9. 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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10. Ghrálaigh FN, Gallagher L, Lopez LM. Autism spectrum disorder genomics : The progress and potential of genomic technologies. Genomics ;2020 (Sep 14)

Genomic technologies have accelerated research progress in autism spectrum disorder (ASD) genomics and promises to further transform our understanding of the genetic basis of this neurodevelopmental disorder. Here we review the current evidence for the genetic basis of ASD, present the progress of large-scale studies to date and highlight the potential of genomic technologies. In particular, we discuss evidence for the importance of identifying rare genetic variants in family-based studies. Genomics is a key feature of future healthcare and our review illustrates it’s potential to improve our biological understanding of neurodevelopmental disorders, and to ultimately aid ASD diagnosis, inform medical decision making and establish genomics as central to personalised medicine.

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11. Harris HK, Sideridis GD, Barbaresi WJ, Harstad E. Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder. Pediatrics ;2020 (Sep 16)

BACKGROUND AND OBJECTIVES : Genetic testing is recommended for individuals with autism spectrum disorder (ASD). Pathogenic yield varies by clinician and/or patient characteristics. Our objectives were to determine the pathogenic yield of genetic testing, the variability in rate of pathogenic results based on subject characteristics, and the percentage of pathogenic findings resulting in further medical recommendations in toddlers with a Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition diagnosis of ASD. METHODS : We conducted a retrospective chart review of 500 toddlers, 18 to 36 months, diagnosed with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition ASD (mean age : 25.8 months, 79% male). Subject demographics, medical and neuropsychological characteristics, and genetic test results were abstracted. Genetic results were divided into negative or normal, variants of unknown significance, and pathogenic. Subject characteristics were compared across results. Manual chart review determined if further recommendations were made after pathogenic results. RESULTS : Over half of subjects (59.8%, n = 299) completed genetic testing, and of those, 36 (12.0%) had pathogenic findings. There were no significant differences in Bayley Scales of Infant Development cognitive (P = .112), language (P = .898), or motor scores (P = .488) among children with negative or normal findings versus a variant of unknown significance versus pathogenic findings. Medical recommendations in response to the genetic finding were made for 72.2% of those with pathogenic results. CONCLUSIONS : Our findings reinforce the importance of genetic testing for toddlers diagnosed with ASD given the 12% yield and lack of phenotypic differences between subjects with and without pathogenic findings. The majority of pathogenic results lead to further medical recommendations.

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12. Jeste S, Hyde C, Distefano C, Halladay A, Ray S, Porath M, Wilson RB, Thurm A. Changes in access to educational and healthcare services for individuals with intellectual and developmental disabilities during COVID-19 restrictions. J Intellect Disabil Res ;2020 (Sep 17)

BACKGROUND : COVID-19 restrictions have significantly limited access to in-person educational and healthcare services for all, including individuals with intellectual and developmental disabilities (IDDs). The objectives of this online survey that included both national and international families were to capture changes in access to healthcare and educational services for individuals with IDDs that occurred shortly after restrictions were initiated and to survey families on resources that could improve services for these individuals. METHODS : This was an online survey for caregivers of individuals with (1) a genetic diagnosis and (2) a neurodevelopmental diagnosis, including developmental delay, intellectual disability, autism spectrum disorder or epilepsy. The survey assessed (1) demographics, (2) changes in access to educational and healthcare services and (3) available and preferred resources to help families navigate the changes in service allocation. RESULTS : Of the 818 responses (669 within the USA and 149 outside of the USA), most families reported a loss of at least some educational or healthcare services. Seventy-four per cent of parents reported that their child lost access to at least one therapy or education service, and 36% of respondents lost access to a healthcare provider. Only 56% reported that their child received at least some continued services through tele-education. Those that needed to access healthcare providers did so primarily through telemedicine. Telehealth (both tele-education and telemedicine) was reported to be helpful when available, and caregivers most often endorsed a need for an augmentation of these remote delivery services, such as 1:1 videoconference sessions, as well as increased access to 1:1 aides in the home. CONCLUSIONS : COVID-19 restrictions have greatly affected access to services for individuals with syndromic IDDs. Telehealth may provide opportunities for delivery of care and education in a sustainable way, not only as restrictions endure but also after they have been lifted.

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13. Kang E, Lerner MD, Gadow KD. Atypical communication characteristics among clinic-referred youth with and without autism spectrum disorder : Stability and associations with clinical correlates. Dev Psychopathol ;2020 (Sep 17):1-14.

Atypical communication characteristics (ACCs), such as speech delay, odd pitch, and pragmatic difficulties, are common features of autism spectrum disorder (ASD) as are the symptoms of a wide range of psychiatric disorders. Using a simple retrospective method, this study aimed to better understand the relation and stability of ACCs with a broad range of psychiatric symptoms among large, well-characterized samples of clinic-referred children and adolescents with and without ASD. Youth with ASD had higher rates and a more variable pattern of developmental change in ACCs than the non-ASD diagnostic group. Latent class analysis yielded three ACC stability subgroups within ASD : Stable ACCs, Mostly Current-Only ACCs, and Little Professors. Subgroups exhibited differences in severity of ASD symptomatology, co-occurring psychiatric symptoms, and other correlates. Our findings provide support for the clinical utility of characterizing caregiver-perceived changes in ACCs in identifying children at risk for co-occurring psychopathology and other clinically relevant variables.

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14. Karni-Visel Y, Hershkowitz I, Hershkowitz F, Flaisher M, Schertz M. Increased risk for child maltreatment in those with developmental disability : A primary health care perspective from Israel. Res Dev Disabil ;2020 (Sep 18) ;106:103763.

BACKGROUND : Child Maltreatment (CM) is a worldwide phenomenon. Literature suggests that children with disabilities are at increased risk for CM. However, limited information exists regarding if such increased risk is noted in community primary care clinics. AIM : To report on the incidence of CM in children with and without disabilities attending community primary care clinics. METHOD : This was a cohort study of children belonging to a Health Maintenance Organization (HMO) in Israel. The study group consisted of children with disabilities and the control group consisted of children without disabilities. Formal reports to child protection services, medical and sociodemographic data were extracted from designated documentation and medical records. RESULTS : The odds to be identified as suspected CM, after adjusting for sociodemographic variables, was 6.2 times higher among children with disabilities compared to children without disabilities and 5.0 times higher among children with severe vs. mild disability. CONCLUSIONS : Developmental disability is a risk factor for CM, and is noted even more seriously in community primary care clinics. CM positively correlated with the severity of disability. The presented data marks higher figures than previously reported, enhancing understanding of the scope of the problem and its relation to the type of organization being examined.

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15. Katsuki R, Tateno M, Kubo H, Kurahara K, Hayakawa K, Kuwano N, Kanba S, Kato TA. Autism Spectrum Conditions in Hikikomori : A Pilot Case-Control Study. Psychiatry Clin Neurosci ;2020 (Sep 17)

AIM : Hikikomori, a form of pathological social withdrawal, has been suggested to have comorbidity with autism spectrum disorder (ASD). This study aimed to clarify how characteristics of hikikomori are associated with ASD including undiagnosed autism spectrum conditions (ASC) in clinical settings. METHODS : 416 clinical patients were recruited through the Mood Disorder/Hikikomori Clinic at Kyushu University Hospital. 103 hikikomori cases and 221 clinical controls without hikikomori conditions were extracted using a semi-structured interview, and completed a series of self-rated scales including Autism-Spectrum Quotient (AQ-J). RESULTS : Compared to non-hikikomori controls, hikikomori cases were likely to have higher autistic tendency based on AQ-J. The cases showed more severe subjective depressive symptoms based on self-rated BDI-II, whereas no significant difference was found on interview-based severity evaluation using HAMD. Comparison within hikikomori cases based on the cut-off score of AQ-J revealed that hikikomori cases with high ASC were significantly more likely to have higher traits of modern-type depression (MTD), smaller social networks and less social support. CONCLUSION : The present data has suggested hikikomori sufferers are more likely to have autistic tendency, and hikikomori sufferers with high ASC may have much more difficulty in social communication and social interaction. In addition, those with high ASC may also have lower self-esteem and higher complaint tendencies as aspects of MTD traits, which may relate to the occurrence of hikikomori. Thus, evaluating autistic tendencies is important for appropriate interventions in hikikomori. Further investigations should be conducted to validate our pilot findings using structured diagnostic systems of ASD. This article is protected by copyright. All rights reserved.

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16. Klin A, Micheletti M, Klaiman C, Shultz S, Constantino JN, Jones W. Affording autism an early brain development re-definition. Dev Psychopathol ;2020 (Sep 17):1-15.

The national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations. To address this perceptual barrier, we propose a re-definition of ASD in early brain development terms, with a view to revisit the world of opportunities afforded by current science to optimize children’s outcomes despite the risks that they are born with. This view is presented here to counter outdated notions that potentially devastating disability is determined the moment a child is born, and that these burdens are inevitable, with opportunities for improvement being constrained to only alleviation of symptoms or limited improvements in adaptive skills. The impetus for this piece is the concern that such views of complex neurodevelopmental conditions, such as ASD, can become self-fulfilling science and policy, in ways that are diametrically opposed to what we currently know, and are learning every day, of how genetic risk becomes, or not, instantiated as lifetime disabilities.

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17. Lodder A, Papadopoulos C, Randhawa G. Using a blended format (videoconference and face to face) to deliver a group psychosocial intervention to parents of autistic children. Internet Interv ;2020 (Sep) ;21:100336.

BACKGROUND : Parents and carers of autistic children report poor mental health. Autism stigma is a strong contributing factor to poor parental mental health, yet there are currently no interventions available that are evidenced to improve parents’ mental health in part through increasing resilience to stigma. Childcare and travel are well known barriers to attendance and attrition rates for this population are high. METHODS : A blended format psychosocial group support intervention was developed with the aim to improve parental mental health. Three sessions were delivered face to face, and five sessions via videoconference. A secret Facebook group was set up to support the intervention and increase retention rates. Mixed methods were used to assess the feasibility and acceptability of this mode of delivery for both the facilitator and service users. Attendance rates, fidelity and implementation issues are discussed. A qualitative focus group was conducted (n = 9) to explore the acceptability to the participants. Framework analysis was used to analyse the findings. RESULTS : Attendance rates were high with the online sessions having significantly higher attendance rates than the face to face sessions. The findings of the qualitative evaluation suggest that participants are positive about videoconferencing for a group support intervention. The facilitator reported sound quality, background distractions and late arrivals as challenges ; the participants on the other hand, reported that the benefits far outweighed the negatives. Suggestions for improvement are made. CONCLUSIONS : The results suggest that videoconference is a well-received method to provide a group support intervention to parents. Only preliminary conclusions can be drawn, owing to the small sample size.

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18. Marino F, Chilà P, Failla C, Crimi I, Minutoli R, Puglisi A, Arnao AA, Tartarisco G, Ruta L, Vagni D, Pioggia G. Tele-Assisted Behavioral Intervention for Families with Children with Autism Spectrum Disorders : A Randomized Control Trial. Brain Sci ;2020 (Sep 18) ;10(9)

BACKGROUND : Telehealth is useful for both autism spectrum disorder (ASD) diagnosis and treatment, but studies with a direct comparison between teletherapy and traditional in-person therapy are limited. METHODS : This randomized control trial-ISRCTN (International Standard Randomised Controlled Trial Number) primary clinical trial registry ID ISRCTN15312724-was aimed at comparing the effect of a tele-assisted and in-person intervention based on a behavioral intervention protocol for families with children affected by ASDs. Forty-two parents with children with autism (30 months to 10 years old) were randomly assigned to 12 sessions of an applied behavioral analysis (ABA) intervention implemented in an individual and group setting, either with or without the inclusion of tele-assistance. Pre- and postintervention assessments were conducted using the Home Situation Questionnaire (HSQ-ASD) and the Parental Stress Index (PSI/SF). RESULTS : Substantial improvements in the perception and management of children’s behavior by parents, as well as in the influence of a reduction in parent stress levels on said children’s behavior through the use of a tele-assisted intervention, were obtained. CONCLUSIONS : This randomized controlled trial demonstrates the evidence-based potential for telehealth to improve treatment of ASDs.

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19. Salleh NS, Abdullah KL, Yoong TL, Jayanath S, Husain M. Parents’ experiences of affiliate stigma when caring for a child with autism spectrum disorder (ASD) : A meta-synthesis of qualitative studies. J Pediatr Nurs ;2020 (Sep 18) ;55:174-183.

PROBLEM : Stigma affects not only children diagnosed with autism spectrum disorder (ASD) themselves, but also people connected with them (i.e., parents, siblings). The capacity of parents to provide care is affected by the stigma they perceive. This meta-synthesis encompasses the experiences of affiliate stigma among parents of children with ASD. ELIGIBILITY CRITERIA : Articles were limited to the English language, those reported on stigma experienced by parents of children with ASD aged 2-18 years, published between 1940 and 2019. SAMPLE : PubMed, CINAHL, PsycINFO, EMBASE, Scopus and The Cochrane Library databases were searched for eligible studies. Titles and abstracts were reviewed, and twelve articles fitted the selection criteria. The texts of the selected research papers were reviewed by two independent reviewers. RESULTS : Four common themes across parental experiences included felt stigma, enacted stigma, variations in stigma, and contributors to stigmatizing experiences. CONCLUSIONS : Highlighting the differences in parents’ views on affiliate stigma is necessary to create awareness about ASD and the stigma linked with this disorder. IMPLICATIONS : The findings asserted that healthcare professionals, especially those in pediatric settings, and society need to have a greater awareness of the stigma and challenges that these parents encounter as this has implications on their mental and physical health. This awareness will lead to more compassionate health care delivery which will support them and create a better environment for families and children with ASD.

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20. Sansi A, Nalbant S, Ozer D. Effects of an Inclusive Physical Activity Program on the Motor Skills, Social Skills and Attitudes of Students with and without Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Sep 17)

This study investigated the effects of an inclusive physical activity (IPA) program on the motor and social skills and attitudes of students with and without autism spectrum disorder (ASD). The study sample consisted of 45 ASD and typical development (TD) students aged between 6 and 11 years. The students were randomly divided into two groups : a training group consisting of 27 students (n = 13 with ASD and n = 14 with TD) and a control group consisting of 18 students (n = 9 with ASD and n = 9 with TD). In conclusion, the IPA program increased the motor and social skills of the ASD students and improved the motor skills of the TD students and positively affected their attitudes towards the ASD students.

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21. 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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22. 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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23. Sathananthan G, Levy RD, Swiston J, Brunner NW, Bradley EA, Kiess M, Grewal J. Evolving Paradigms in the Treatment of Atrial Septal Defects with Pulmonary Arterial Hypertension (ASD-PAH). Cardiol Rev ;2020 (Sep 18)

Atrial septal defects are one of the most frequently diagnosed congenital heart defects in adulthood. The presence of concurrent moderate or severe pulmonary arterial hypertension without Eisenmenger Syndrome at the time of diagnosis can make for a challenging clinical scenario. There is continually evolving literature to determine the ideal approach to this subset of patients. Here we aim to review the clinical presentation, history, medical therapy and closure options for atrial septal defects-pulmonary arterial hypertension with predominant left-to-right shunting, in the absence of ES.

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24. 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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25. Tarnowska K, Gruczyńska-Sękowska E, Kowalska D, Kozłowska M, Majewska E, Winkler R. Difficulties and factors influencing purchase decision. The perspective of families with children with autism spectrum disorders on a gluten-free and casein-free diet. Preliminary study. Rocz Panstw Zakl Hig ;2020 ;71(3):321-328.

BACKGROUND : Gluten-free and casein-free diet is frequently used in the support of therapy of children with autism spectrum disorders. In addition, many parents restrict the consumption of simple sugars for their children. OBJECTIVE : The aim of this paper was to understand factors influencing purchase decision in case of family with children with autism spectrum disorders on gluten-free and/or casein-free and/or sugar-free diet and the difficulties associated with this type of nutrition. MATERIAL AND METHODS : The study covered a group of 40 families with children with autism spectrum disorders (32 boys and 8 girls) aged 3 to 10 years. Data were collected with questionnaire included questions concerning overall characteristics of caregivers, availability of foods used in the special diet, factors affecting decision on the purchase of products, difficulties in maintaining the child nutrition method. RESULTS : The factors having strongest impact on parents’ decisions on the purchase of products were product composition, presence of a certificate confirming the absence of gluten and/or milk and taste values. Exclusion diet constituted a considerable obstruction for traveling, social gatherings and resulted in conflicts with family and the environment. The limited range of healthy gluten-free, casein-free and sugar-free foods, low taste quality and unsatisfactory quality impeded purchase and preparation of varied meals. CONCLUSIONS : The surveyed parents were aware consumers, paying attention primarily to product composition and safety. The respondents were looking for healthy, organic and nutritionally valuable products with low sugar content. Further development of the gluten/casein/ sugar free products market may considerably improve certain aspects of family’s life with children with autism spectrum disorders.

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26. Thapar A, Rutter M. Genetic Advances in Autism. J Autism Dev Disord ;2020 (Sep 17)

In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians.

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27. Wendt FR, Carvalho CM, Pathak GA, Gelernter J, Polimanti R. Polygenic risk for autism spectrum disorder associates with anger recognition in a neurodevelopment-focused phenome-wide scan of unaffected youths from a population-based cohort. PLoS Genet ;2020 (Sep 17) ;16(9):e1009036.

The polygenic nature and the contribution of common genetic variation to autism spectrum disorder (ASD) allude to a high degree of pleiotropy between ASD and other psychiatric and behavioral traits. In a pleiotropic system, a single genetic variant contributes small effects to several phenotypes or disorders. While analyzed broadly, there is a paucity of research studies investigating the shared genetic information between specific neurodevelopmental domains and ASD. We performed a phenome-wide association study of ASD polygenetic risk score (PRS) against 491 neurodevelopmental subdomains ascertained in 4,309 probands from the Philadelphia Neurodevelopmental Cohort (PNC) who lack an ASD diagnosis. Our main analysis calculated ASD PRS in 4,309 PNC probands using the per-SNP effects reported in a recent genome-wide association studies of ASD in a case-control design. In a high-resolution manner, our main analysis regressed ASD PRS against 491 neurodevelopmental phenotypes with age, sex, and ten principal components of ancestry as covariates. Follow-up analyses included in the regression model PRS derived from brain-related traits genetically correlated with ASD. Our main finding demonstrated that 11-17-year old probands with the highest ASD genetic risk were able to identify angry faces (R2 = 1.06%, p = 1.38 × 10-7, pBonferroni-corrected = 1.9 × 10-3). This ability replicated in older probands (>18 years ; R2 = 0.55%, p = 0.036) and persisted after covarying with other psychiatric disorders, brain imaging traits, and educational attainment (R2 = 0.2%, p = 0.019). We also detected several suggestive associations between ASD PRS and emotionality and connectedness with others. These data (i) indicate how genetic liability to ASD may influence neurodevelopment in the general population, (ii) reinforce epidemiological findings of heightened ability of ASD cases to predict certain social psychological events based on increased systemizing skills (iii) recapitulate theories of imbalance between empathizing and systemizing in ASD etiology.

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28. Yamamoto T, Yagi M, Suzuki S, Nori S, Tsuji O, Nagoshi N, Okada E, Fujita N, Nakamura M, Matsumoto M, Watanabe K. Limited Cost Benefit of Lateral Interbody Fusion (LIF) for Adult Spinal Deformity (ASD) Surgery. Spine (Phila Pa 1976) ;2020 (Sep 18)

STUDY DESIGN : Retrospective case series. OBJECTIVE : To compare the utility and cost-effectiveness of multilevel lateral interbody fusion (LIF) combined with posterior spinal fusion (PSF) (L group) and conventional PSF (with transforaminal lumbar interbody fusion) (P group) in adult spinal deformity (ASD) surgery. SUMMARY OF BACKGROUND DATA : The clinical and radiographic outcomes of multilevel LIF for ASD has been reported favorable ; however, the cost benefit of LIF in conjunction with PSF is still controversial. METHODS : Retrospective comparisons of 88 surgically treated ASD patients with minimum 2-year follow-up from a multicenter database (L group [n = 39] and P group [n = 49]) were performed. Demographic and radiographic data, health-related quality of life (HRQoL), and the direct hospitalization cost for the initial surgery and 2-year total hospitalization cost were analyzed. RESULTS : Analyses of sagittal spinal alignment showed no significant difference between the 2 groups at baseline and 2 years post-operation. Surgical time was longer in the L group (L vs. P : 354 min vs. 268 min, p < 0.01), whereas the amount of blood loss was greater in the P group (494 mL vs. 678 mL, p = 0.03). The HRQoL was improved similarly at 2 years post-operation (L vs. P : SRS-22 total score, 3.86 vs. 3.80, p = 0.54), with comparable revision rates (L vs P : 18% vs. 10%, p = 0.29). The total direct cost of index surgery was significantly higher in the L group (65,937 vs. 49,849 USD, p < 0.01), which was mainly due to the operating room cost, including implant cost (54,466 vs. 41,328 USD, p < 0.01). In addition, the 2 year total hospitalization cost, including revision surgery, was also significantly higher in the L group (70,847 vs. 52,560 USD, p < 0.01). CONCLUSIONS : LIF with PSF is a similarly effective surgery for ASD when compared with conventional PSF. However, due to the significantly higher cost, additional studies on the cost-effectiveness of LIF in different ASD patient cohorts are warranted. LEVEL OF EVIDENCE : 3.

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