Pubmed du 14/07/20

mardi 14 juillet 2020

1. 1(st) Gulf Autism Conference : Muscat, Oman, 24-26 January 2020. Sultan Qaboos University medical journal. 2020 ; 20(2) : e237-e40.

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2. Agarwal R, Heron L, Naseh M, Burke SL. Mentoring Students with Intellectual and Developmental Disabilities : Evaluation of Role-Specific Workshops for Mentors and Mentees. J Autism Dev Disord. 2020.

Transitioning to post-secondary education is often challenging for students with intellectual and developmental disabilities (IDD). To address this, Florida International University, specifically FIU Embrace, piloted the Embrace Mentoring Program (EMP), which provided unique role-specific workshops to both faculty/staff mentors, and student mentees with IDD. A mixed-method design was used to analyze knowledge acquisition and participant perceptions of the workshops. Quantitative findings indicated knowledge improvement in a key area for mentors, while qualitative data demonstrated a positive response to workshop content, and highlighted areas of improvement for future workshops. Ultimately, the results from the pilot EMP demonstrated promise in supporting students with IDD towards academic and career-related goals, by providing mentorship training to both mentors and mentees.

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3. Albantakis L, Brandi ML, Zillekens IC, Henco L, Weindel L, Thaler H, Schliephake L, Timmermans B, Schilbach L. Alexithymic and autistic traits : Relevance for comorbid depression and social phobia in adults with and without autism spectrum disorder. Autism. 2020 : 1362361320936024.

Adults with autism often develop mental health problems such as depression and social phobia. The reasons for this are still unclear. Many studies found that alexithymia plays an important role in mental health problems like depression. People with alexithymia have difficulties identifying and describing their emotions. Almost every second person with autism has alexithymia. Therefore, we explored in this study whether alexithymia is linked to worse mental health in autistic people. We looked at two common diagnoses, depression and social phobia. We found that alexithymia increased symptoms of depression, while autistic traits increased symptoms of social phobia. Our results suggest that alexithymia and autistic traits can increase the risk of mental health problems. An early assessment could help prevent mental health problems and improve quality of life.

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4. Allouh MZ, Al Barbarawi MM, Ali HA, Mustafa AG, Alomari SO. Morphometric Analysis of the Corpus Callosum According to Age and Sex in Middle Eastern Arabs : Racial Comparisons and Clinical Correlations to Autism Spectrum Disorder. Frontiers in systems neuroscience. 2020 ; 14 : 30.

This study sought to examine the influence of age and sex on morphometric measurements of the corpus callosum (CC) within Middle Eastern Arab population, in order to obtain reference data and conduct racial comparisons with previously reported measurements from other ethnicities. Furthermore, it aimed to investigate CC variations that may occur in children with autism. To this end, magnetic resonance images of normal brains were acquired from three different age groups, consisting of children, younger adults, and older adults. Brain images were also acquired from boys with autism spectrum disorder (ASD). The CC length, area, and thickness were measured. The CC length was smaller in children than in the other age groups, but no difference in CC length was found between younger and older adults. The CC area and thickness were greater in younger adults than in children and older adults, and greater in older adults than in children. With regard to sexual dimorphism, the CC area and forebrain volume were larger in male children than in female children. No sex-related differences in CC area or thickness were found in adults. However, the ratio of CC area to the forebrain volume was greater in adult females than in males, owing to the smaller forebrain volume in females. The absolute length of the CC was greater in older adult males than in their female counterparts. In addition, significant differences in CC measurements were found in comparison to measurements obtained from other ethnicities. Lastly, significant reductions in CC area and thickness were found in boys with ASD compared to their neurotypical peers. In conclusion, age and sex significantly influence morphometric measurements of CC in Middle Eastern Arab population. This study points to the presence of racial differences in CC size. Finally, it reveals that children with ASD display a distinct reduction in CC size compared to neurotypical children of the same ethnicity.

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5. Al-Mendalawi MD. Re : Revisiting the Prevalence of Autism Spectrum Disorder among Omani Children : A multicentre study. Sultan Qaboos University medical journal. 2020 ; 20(2) : e236.

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6. Baldimtsi E, Nicolopoulou A, Tsimpli IM. Cognitive and Affective Aspects of Theory of Mind in Greek-Speaking Children with Autism Spectrum Disorders. J Autism Dev Disord. 2020.

Substantial research indicates that individuals with Autism Spectrum Disorder (ASD) have difficulties with Theory of Mind (ToM) abilities, but rarely have studies used a comprehensive battery to measure both the cognitive and affective aspects of ToM. The present study tested this ability in 24 Greek-speaking children with ASD (ages 7-14), and their performance was compared to 24 age-, gender- and language-matched typically developing controls. Results showed that ASD children’s performance was selectively impaired in both ToM aspects, supporting the distinction between ToM components. This is the first study of ToM abilities among Greek-speaking children with ASD, and the findings confirm that children with ASD are experiencing difficulties with socio-emotional understanding across languages and cultures.

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7. Barney CC, Andersen RD, Defrin R, Genik LM, McGuire BE, Symons FJ. Challenges in pain assessment and management among individuals with intellectual and developmental disabilities. Pain reports. 2020 ; 5(4) : e821.

INTRODUCTION : Intellectual and developmental disabilities (IDD) include conditions associated with physical, learning, language, behavioural, and/or intellectual impairment. Pain is a common and debilitating secondary condition compromising functional abilities and quality of life. OBJECTIVES : This article addresses scientific and clinical challenges in pain assessment and management in individuals with severe IDD. METHODS : This Clinical Update aligns with the 2019 IASP Global Year Against Pain in the Vulnerable and selectively reviews recurring issues as well as the best available evidence and practice. RESULTS : The past decade of pain research has involved the development of standardized assessment tools appropriate for individuals with severe IDD ; however, there is little empirical evidence that pain is being better assessed or managed clinically. There is limited evidence available to inform effective pain management practices ; therefore, treatment approaches are largely empiric and highly variable. This is problematic because individuals with IDD are at risk of developing drug-related side effects, and treatment approaches effective for other populations may exacerbate pain in IDD populations. Scientifically, we are especially challenged by biases in self-reported and proxy-reported pain scores, identifying valid outcome measures for treatment trials, being able to adequately power studies due to small sample sizes, and our inability to easily explore the underlying pain mechanisms due to compromised ability to self-report. CONCLUSION : Despite the critical challenges, new developments in research and knowledge translation activities in pain and IDD continue to emerge, and there are ongoing international collaborations.

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8. Basilico B, Morandell J, Novarino G. Molecular mechanisms for targeted ASD treatments. Current opinion in genetics & development. 2020 ; 65 : 126-37.

The possibility to generate construct valid animal models enabled the development and testing of therapeutic strategies targeting the core features of autism spectrum disorders (ASDs). At the same time, these studies highlighted the necessity of identifying sensitive developmental time windows for successful therapeutic interventions. Animal and human studies also uncovered the possibility to stratify the variety of ASDs in molecularly distinct subgroups, potentially facilitating effective treatment design. Here, we focus on the molecular pathways emerging as commonly affected by mutations in diverse ASD-risk genes, on their role during critical windows of brain development and the potential treatments targeting these biological processes.

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9. Besterman AD, Sadik J, Enenbach MJ, Quintero-Rivera F, DeAntonio M, Martinez-Agosto JA. The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service. Autism Res. 2020.

Diagnostic genetic testing is recommended for children with autism spectrum disorder and other neurodevelopmental disorders. One approach to improve access to genetic testing is to offer it on the inpatient child and adolescent psychiatry (CAP) service. We provided medical genetics education to CAP fellows and retrospectively compared the genetic testing rates and diagnostic yield pre- and post-education. We compared demographics to similar patients who received testing on other clinical services and assessed rates of outpatient genetics follow-up post-discharge. The genetic testing rate on the inpatient CAP service was 1.6% before the educational intervention and 10.7% afterward. Genetic risk factors were identified in 4.3% of inpatients. However, 34.8% had variants of unknown significance. 39.1% of patients who received genetic testing while inpatients were underrepresented minorities, compared to 7.7% of inpatients who received genetic testing from other clinical services. 43.5% of patients were lost to outpatient genetics follow-up. We have demonstrated that it is feasible to provide medical genetics education to CAP fellows on an inpatient service, which may improve genetic testing rates. This preliminary evidence also suggests that genetic testing for inpatients may identify variants of unknown significance instead of well-known neurodevelopmental disorder risk variants. Genetic testing on an inpatient CAP service may also improve access to genetic services for underrepresented minorities, but assuring outpatient follow-up can be challenging. LAY SUMMARY : Genetic testing is recommended for children with autism and related developmental conditions. We provided genetic testing to a group of these children who were in a psychiatric hospital by teaching their doctors how it can be helpful. We identified a genetic risk factor in a small percentage of children and a possible genetic risk factor in a large percentage of children. However, many children did not end up receiving their genetic test results once they left the hospital. These results tell us that the psychiatric hospital may be a good place for children with autism and behavioral problems to get genetic testing, but that it is really important that doctors assure follow-up is feasible for all patients to receive their genetic test results once they leave the hospital.

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10. Bohadana G, Morrissey S, Paynter J. Self-Compassion in Mothers of Children with Autism Spectrum Disorder : A Qualitative Analysis. J Autism Dev Disord. 2020.

Emerging quantitative research found self-compassion to be a unique predictor of parental stress in parents of children with ASD above other predictors. However, research on the lived experience of self-compassion in families of children with ASD is limited. Using a qualitative thematic analysis approach, 19 mothers of children with ASD with a mean age of 39.19 years (SD = 3.56, Range = 31.00-50.00 years) were interviewed about their lived experiences of stress and self-compassion. Themes derived from interviews include : the impact and causes of stress, benefits of self-compassion, barriers to self-compassion, and aids to self-compassion. The findings deepen our understanding of the experience of self-compassion in this population. Limitations and future directions are discussed.

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11. Boutain AR, Sheldon JB, Sherman JA. Evaluation of a telehealth parent training program in teaching self-care skills to children with autism. Journal of applied behavior analysis. 2020.

The present study used synchronous video conferencing to remotely deliver a behavioral skills training-based (BST) parent training program to 3 parents of children with autism in the family home. Parents were taught to implement graduated guidance to teach their children several important self-care skills. Parents did not correctly implement graduated guidance after receiving detailed written instructions only. After parents received the BST parent training package, however, all parents implemented graduated guidance with near-perfect levels of fidelity, and all children completed the targeted self-care skills with substantially higher levels of accuracy and independence. Furthermore, parents reported high levels of satisfaction with graduated guidance, the telehealth BST training package, and their children’s ability to complete self-care skills.

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12. Bremer E, Graham JD, Heisz JJ, Cairney J. Effect of Acute Exercise on Prefrontal Oxygenation and Inhibitory Control Among Male Children With Autism Spectrum Disorder : An Exploratory Study. Frontiers in behavioral neuroscience. 2020 ; 14 : 84.

Objective : Children with autism spectrum disorder (ASD) experience significant challenges in executive functioning. Emerging evidence suggests exercise may improve executive functioning among children ; however, these effects and their mechanisms have not been fully explored among children with ASD. The purpose of this study was to explore the acute effect of exercise on cerebral oxygenation within the prefrontal cortex and inhibitory control among male children with ASD. Method : Participants (N = 12) were 8-12 years of age with a diagnosis of ASD. A within-subject crossover design was employed. Participants completed three 20-min conditions on separate days : circuit-based workout, treadmill walking, and sedentary control. Pre- and post- each condition participants completed a cancellation task (Leiter-3) as a measure of inhibitory control and cerebral oxygenation was concurrently assessed using functional near-infrared spectroscopy (fNIRS). Heart rate, affect, perceived exertion, motivation, and self-efficacy were measured throughout the experiment as manipulation checks and potential psychological mechanisms. A series of repeated measures ANOVAs were conducted to examine intervention effects. Results : Results demonstrated medium-to-large interaction effects (time by condition) for cerebral oxygenation ( ηp2 = 0.237) and inhibitory control ( ηp2 = 0.118). Post hoc analyses revealed that the circuit exercise condition elicited the largest changes in both outcomes. The manipulation checks indicated that the exercises were completed as intended. Conclusion : These findings suggest that exercise may be a feasible intervention for enhancing executive functioning in children with ASD. More research with larger samples is needed to replicate these findings.

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13. Failla MD, Schwartz KL, Chaganti S, Cutting LE, Landman BA, Cascio CJ. Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder. Autism. 2020 : 1362361320934561.

People with autism spectrum disorder often have a number of other medical conditions in addition to autism. These can range from constipation to epilepsy. This study uses medical record data to understand how frequently and how long people with autism have to be seen by a medical professional for these other medical conditions. This study confirmed that people with autism often have a number of other medical conditions and that they have to go see a medical professional about those conditions often. We also looked to see if children diagnosed with autism after age 5 years might have different medical conditions compared to children diagnosed earlier. Children diagnosed later had more conditions like asthma, hearing loss, and mood disorders. This work describes how much medical care people with autism get for different medical conditions and the burden of seeking additional medical care for people with autism and their families.

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14. Farajzadeh Valilou S, Alavi A, Pashaei M, Ghasemi Firouzabadi S, Shafeghati Y, Nozari A, Hadipour F, Hadipour Z, Maghsoodlou Estrabadi B, Gholamreza Noorazar S, Banihashemi S, Karimian J, Fattahi M, Behjati F. Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems. Molecular syndromology. 2020 ; 11(2) : 62-72.

Autism spectrum disorder (ASD) is characterized by 3 core symptoms with impaired social communication, repetitive behavior, and/or restricted interests in early childhood. As a complex neurodevelopmental disorder (NDD), the phenotype and severity of autism are extremely heterogeneous. Genetic factors have a key role in the etiology of autism. In this study, we investigated an Azeri Turkish family with 2 ASD-affected individuals to identify probable ASD-causing variants. First, the affected individuals were karyotyped in order to exclude chromosomal abnormalities. Then, whole-exome sequencing was carried out in one affected sibling followed by cosegregation analysis for the candidate variants in the family. In addition, SNP genotyping was carried out in the patients to identify possible homozygosity regions. Both proband and sibling had a normal karyotype. We detected 3 possible causative variants in this family : c.5443G>A ; p.Gly1815Ser, c.1027C>T ; p.Arg343Trp, and c.382A>G ; p.Lys128Glu, which are in the FBN1, TF, and PLOD2 genes, respectively. All of the variants cosegregated in the family, and SNP genotyping revealed that these 3 variants are located in the homozygosity regions. This family serves as an example of a multimodal polygenic risk for a complex developmental disorder. Of these 3 genes, confluence of the variants in FBN1 and PLOD2 may contribute to the autistic features of the patient in addition to skeletal problems. Our study highlights the genetic complexity and heterogeneity of NDDs such as autism. In other words, in some patients with ASD, multiple rare variants in different loci rather than a monogenic state may contribute to the development of phenotypes.

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15. Fombonne E. Camouflage and autism. J Child Psychol Psychiatry. 2020 ; 61(7) : 735-8.

The theme of camouflage recently gained unexpected momentum in autism research. Symposia and panel discussions are devoted to ’ camouflage’ in autism conferences. Because of its association with intended deception, the term camouflage has poor fit with the autism world. However, psychopathologists have a long tradition of resorting to camouflage-like terminology, from Freud’s reaction formation, to pseudoschizophrenia, to Winnicott’s false self, to masked depression, and even to the recent quasi-autism, artfully telling us that what we see is actually not what we see but rather what we cannot see. Is ’Camouflaged Autism’ the next in line nosographical pearl ?

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16. Fuentes J, Hervás A, Howlin P. ESCAP practice guidance for autism : a summary of evidence-based recommendations for diagnosis and treatment. Eur Child Adolesc Psychiatry. 2020.

Across Europe, there is increased awareness of the frequency and importance of autism spectrum disorder (ASD), which is now recognised not only as a childhood disorder but as a heterogeneous, neurodevelopmental condition that persists throughout life. Services for individuals with autism and their families vary widely, but in most European countries, provision is limited. In 2018, European Society of Child and Adolescent Psychiatry (ESCAP) identified the need for a Practice Guidance document that would help to improve knowledge and practice, especially for individuals in underserviced areas. The present document, prepared by the ASD Working Party and endorsed by the ESCAP Board on October 3, 2019, summarises current information on autism and focuses on ways of detecting, diagnosing, and treating this condition.

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17. Garcia Primo P, Weber C, Posada de la Paz M, Fellinger J, Dirmhirn A, Holzinger D. Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria. Brain Sci. 2020 ; 10(7).

This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific factors differed between the two groups. A retrospective chart analysis included all children who received their first diagnosis before the age of 10 years (n = 211) between 2013 and 2018. Children with a migrant background were diagnosed 13 months earlier than those without (r = 0.278, p < 0.001), and had more severe delays in language, more severe autism, no Asperger’s syndrome, lower parental educational level and more frequent referrals by paediatricians. For the total sample, expressive language delay, severity of restricted and repetitive behaviours, higher nonverbal development, and paediatric referrals explained earlier diagnoses. There was a stronger effect of parental education and weaker effect of language impairment on age at ASD diagnosis in children with a migrant background. In conclusion, no delay in diagnosing ASD in children with a migrant background in a country with universal health care and an established system of paediatric developmental surveillance was found. Awareness of ASD, including Asperger’s syndrome, should be raised among families and healthcare professionals.

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18. Garribba L, Bjerregaard VA, Gonçalves Dinis MM, Özer Ö, Wu W, Sakellariou D, Pena-Diaz J, Hickson ID, Liu Y. Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells. Proceedings of the National Academy of Sciences of the United States of America. 2020 ; 117(28) : 16527-36.

Folate deprivation drives the instability of a group of rare fragile sites (RFSs) characterized by CGG trinucleotide repeat (TNR) sequences. Pathological expansion of the TNR within the FRAXA locus perturbs DNA replication and is the major causative factor for fragile X syndrome, a sex-linked disorder associated with cognitive impairment. Although folate-sensitive RFSs share many features with common fragile sites (CFSs ; which are found in all individuals), they are induced by different stresses and share no sequence similarity. It is known that a pathway (termed MiDAS) is employed to complete the replication of CFSs in early mitosis. This process requires RAD52 and is implicated in generating translocations and copy number changes at CFSs in cancers. However, it is unclear whether RFSs also utilize MiDAS and to what extent the fragility of CFSs and RFSs arises by shared or distinct mechanisms. Here, we demonstrate that MiDAS does occur at FRAXA following folate deprivation but proceeds via a pathway that shows some mechanistic differences from that at CFSs, being dependent on RAD51, SLX1, and POLD3. A failure to complete MiDAS at FRAXA leads to severe locus instability and missegregation in mitosis. We propose that break-induced DNA replication is required for the replication of FRAXA under folate stress and define a cellular function for human SLX1. These findings provide insights into how folate deprivation drives instability in the human genome.

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19. Greene RK, Parish-Morris J, Sullivan M, Kinard JL, Mosner MG, Turner-Brown LM, Penn DL, Wiesen CA, Pallathra AA, Brodkin ES, Schultz RT, Dichter GS. Dynamic Eye Tracking as a Predictor and Outcome Measure of Social Skills Intervention in Adolescents and Adults with Autism Spectrum Disorder. J Autism Dev Disord. 2020.

To evaluate an eye tracking task as a predictor and outcome measure of treatment response for autism spectrum disorder (ASD) social skills interventions, adolescents and young adults with ASD completed the eye tracking task before, immediately after, and two months after completing Social Cognition and Interaction Training for Autism (SCIT-A). The study compared SCIT-A participants (n = 20) to participants with ASD who received treatment as usual (TAU ; n = 21). Overall, increased visual attention to faces and background objects and decreased attention to hands playing with toys at baseline were associated with improved social functioning immediately following intervention, suggesting this eye tracking task may reliably predict ASD social intervention outcomes.

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20. Kanellis VG. Barriers to sun safety in autism spectrum disorder. Biophysical reviews. 2020.

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21. Langlois PH, Canfield MA, Rutenberg GW, Mandell DJ, Hua F, Reilly B, Ruktanonchai DJ, Jackson JF, Hunt P, Freedenberg D, Lee R, Villanacci JF. The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid population. Am J Med Genet B Neuropsychiatr Genet. 2020.

Autism (or autism spectrum disorder [ASD]) is an often disabling childhood neurologic condition of mostly unknown cause. We previously explored whether there was an association of ASD with any analyte measured in the first newborn screening blood test. Here we explore the second screen. Our matched case-control study examined data on 3-5 year-old patients with any ASD diagnosis in the Texas Medicaid system in 2010-2012. Subjects were linked to their 2007-2009 newborn screening blood test data, which included values for 36 analytes or analyte ratios. Data were available for 3,005 cases and 6,212 controls. The most compelling associations were evident for fatty acid oxidation analytes octanoylcarnitine (C8) and octanoylcarnitine/acetylcarnitine (C8/C2). Their adjusted odds ratios comparing 10th versus first analyte deciles were between 1.42 and 1.54 in total births, term births, and males. C8 was consistent with first screen results. Adipylcarnitine (C6DC), an organic acid analyte, showed opposite results in the two screens. Several other analytes exhibiting significant associations in the first screen did not in the second. Our results provide evidence that abnormal newborn blood levels of some carnitines may be associated with risk of later ASD, possibly related to their involvement with mitochondrial function in the developing brain.

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22. Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D’Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA. Publisher Correction : Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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23. Liu J, Okada NJ, Cummings KK, Jung J, Patterson G, Bookheimer SY, Jeste SS, Dapretto M. Emerging atypicalities in functional connectivity of language-related networks in young infants at high familial risk for ASD. Developmental cognitive neuroscience. 2020 ; 45 : 100814.

Prior studies have demonstrated that infants and toddlers who later go on to develop autism spectrum disorder (ASD) show atypical functional connectivity as well as altered neural processing of language and other auditory stimuli, but the timeline underlying the emergence of these altered developmental trajectories is still unclear. Here we used resting-state fMRI (rsfMRI) during natural sleep to examine the longitudinal development of functional connectivity in language-related networks from 1.5 to 9 months of age. We found that functional connectivity of networks that underlie the integration of sensory and motor representations, which is crucial for language development, is disrupted in infants at high familial risk (HR) for developing ASD as early as 1.5 months of age. By 9 months of age, HR infants showed hyperconnectivity between auditory and somatosensory regions whereas low risk (LR) infants displayed greater intrahemispheric connectivity between auditory cortex and higher-order temporal regions as well as the hippocampus. Furthermore, while LR infants showed robust changes in functional connectivity during the first year of life with increasing long-range connectivity accompanied by decreasing short-range connectivity over time, HR infants displayed limited developmental changes. Our findings demonstrate that early disruptions in the development of language-related network connectivity may provide an early marker for the later emergence of ASD symptomatology.

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24. Nah YH, Tan JW. The effect of diagnostic labels on teachers’ perceptions of behaviours of students with autism spectrum disorder. The British journal of educational psychology. 2020.

BACKGROUND : In Singapore, despite the availability of specialized services and resources in mainstream schools for students with special educational needs, parents can still be hesitant to disclose their child’s diagnosis of autism spectrum disorder (ASD), for fear of stigma or negative attitudes from teachers and peers. AIM : This study aims to understand how diagnostic labels affect teachers’ perceptions of behaviours in students with ASD in mainstream primary schools, particularly behaviours which are difficult for educators to manage in the classroom setting. Based on research suggesting that a diagnostic label can provide an alternative explanation for atypical behaviours and reduce negative impressions, we hypothesize that teachers would perceive these behaviours of children with ASD less negatively as compared to children without any diagnostic labels. SAMPLE : The sample consisted of 120 mainstream primary school teachers who reported a mean of 9.97 years (SD = 7.96) of teaching experience. Majority of participants (65%) indicated that they had direct experience of teaching students with ASD in mainstream schools (mean years = 3.58, SD = 4.77). METHOD : Participants read a total of 20 vignettes depicting a range of behaviours typically observed in primary school-aged students with ASD. Participants were asked to rate the featured student’s behaviour on a 5-point Likert scale (i.e., 1 = strongly negative, 2 = negative, 3 = neutral, 4 = positive, and 5 = strongly positive). The survey vignettes were presented in a randomized order, and participants were randomly assigned to either the experimental group (awareness of diagnostic label) or the control group (non-awareness of label). RESULTS : Results indicated that the experimental group rated the behaviours less negatively than the control group. Qualitative feedback from participants also indicated that knowledge of the diagnostic label helped them to perceive the behaviours more positively. CONCLUSION : Findings from this study have implications for parents regarding diagnosis disclosure and may serve as an encouragement to parents to consider disclosing their child’s ASD diagnosis to the school.

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25. O’Neal S, Foster TP, Bhatt A, Lossius MN, Dayton K. Hypercalcemia from hypervitaminosis A in a child with autism. Journal of pediatric endocrinology & metabolism : JPEM. 2020.

Objectives Vitamin A is essential for normal cellular physiology and is often taken as a dietary supplement. Hypervitaminosis A can lead to hypercalcemia by increasing osteoclasts and subsequent bone resporption. Dietary supplements including vitamin A are new popular treatment stategies for autism. Case presentation We report a five-year old boy with autism spectrum disorder presenting with severe abdominal pain and bilateral lower extremity pain, who was found to have persistent hypercalcemia due to hypervitaminosis A. The patient ingested over 700 times the recommended intake of Vitamin A per day for age. Retention of vitamin A in the liver and adipose tissue causes toxic levels of retinoids and hypercalcemia. Conclusions Acute treatment included intravenous rehydration, furosemide, and calcitonin. Pamidronate was the definitive treatment for hypercalcemia from hypervitaminosis A due to its osteoclast inhibition and long biologic half-life. Parents should be counseled on risks of toxicity and absence of evidence showing benefits of vitamin A therapy for autism.

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26. Recio P, Molero F, García-Ael C, Pérez-Garín D. Perceived discrimination and self-esteem among family caregivers of children with autism spectrum disorders (ASD) and children with intellectual disabilities (ID) in Spain : The mediational role of affiliate stigma and social support. Res Dev Disabil. 2020 ; 105 : 103737.

BACKGROUND : People with autism spectrum disorders (ASD) and people with intellectual disabilities (ID) are stigmatized, and therefore discriminated against worldwide and, on many occasions, this stigma and discrimination are expanded to include their family caregivers. The main objective of this research was to examine the consequences of perceived discrimination on family caregivers of children with ASD and children with ID. METHODS : The sample consisted of 109 Spanish caregivers of children with ASD and 83 caregivers of children with ID. They completed four questionnaires : Multidimensional Perceived Discrimination Scale, Affiliate Stigma Scale, Social Support Questionnaire and Rosenberg Self-Esteem Scale. RESULTS : Using path analysis, we found support for a model in which personal discrimination perceived by caregivers was positively associated with affiliate stigma, which, in turn, was negatively related to caregivers’ self-esteem. The model also shows the total mediational role of affiliate stigma in the association between perceived discrimination and self-esteem and the partial mediational role that social support plays in the association between perceived discrimination and caregivers’ self-esteem. CONCLUSIONS : Caregivers’ perceived discrimination negatively influences caregivers’ self-esteem, but this relationship is mediated by both affiliate stigma (totally) and social support (partially). These results have theoretical and practical implications and may contribute to improving the quality of life of parents of children with ASD and ID that in turn would result in an improvement of the quality of life of their children.

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27. Riglin L, Leppert B, Langley K, Thapar AK, O’Donovan MC, Davey Smith G, Stergiakouli E, Tilling K, Thapar A. Investigating attention-deficit hyperactivity disorder and autism spectrum disorder traits in the general population : What happens in adult life ?. J Child Psychol Psychiatry. 2020.

BACKGROUND : Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are generally considered early-onset disorders so most research has therefore tended to focus on children. Differences between ADHD/ASD in adult life and childhood have been noted, but few population-based studies have examined them in adulthood. Furthermore, the interpretation of findings is hampered by changes in measure and from parent report to self-report. METHOD : We examined continuous/trait measures of parent- and self-rated ADHD and ASD in adulthood (age 25 years) in a UK prospective longitudinal sample ALPSAC (the Avon Longitudinal Study of Parents and Children), using many of the same measures that parents reported on in childhood (N = 6,064). Our aim was to investigate these traits in this population for mean-level sex differences, overlaps with other cognitive, learning and communication problems and their associations with polygenic risk scores (PRS) for neuropsychiatric disorders (ADHD, ASD, schizophrenia, depression and anxiety). RESULTS : ADHD and ASD traits in adulthood, as in childhood, showed associations with childhood cognitive, learning and communication problems and adult communication/language measures, although less so for self-ratings than parent-ratings. Males had higher ADHD and ASD trait levels, but this was not as marked as in childhood. In adulthood, ADHD (both parent- and self-rated) and ASD (parent-rated) symptoms showed associations with ADHD PRS ; self-reported ADHD also showed association with depression PRS, whereas self-reported ASD did not show strong PRS associations. CONCLUSIONS : Our findings suggest that in young adults, ADHD and ASD symptoms have similar characteristics as they do in childhood. Associations with other cognitive, learning and communication problems, and ADHD PRS were somewhat less pronounced for self-reported adult ADHD and ASD symptoms, suggesting that even at age 25, parent reports, where available, could be clinically useful.

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28. Sinai-Gavrilov Y, Gev T, Mor-Snir I, Vivanti G, Golan O. Integrating the Early Start Denver Model into Israeli community autism spectrum disorder preschools : Effectiveness and treatment response predictors. Autism. 2020 : 1362361320934221.

Early intensive intervention has been shown to significantly affect the development of children with Autism. However, the costly implementation of such interventions limits their wide dissemination in the community. This study examined an integration of a research-supported early intensive intervention model called the Early Start Denver Model into community preschool programs for children with Autism in Israel. Four community preschools implemented the preschool-based Early Start Denver Model and four implemented the existing multidisciplinary developmental intervention which is widely applied in Israeli community preschools for children with autism. Fifty-one children (aged 33-57 months) participated in the study. Twenty-six attended the preschool-based Early Start Denver Model preschools and twenty-five attended the multidisciplinary developmental intervention preschools. Before the intervention began, groups were comparable on children’s age and developmental functioning and on families’ socio-economic status. Results showed that, compared to the multidisciplinary developmental intervention group, children in the preschool-based Early Start Denver Model treatment group made greater gains on measures of overall cognitive development, language skills, as well as on parent- and teacher-reported adaptive communication and socialization abilities. Children who had lower autism symptom severity, higher adaptive functioning and better language understanding abilities before taking part in the preschool-based Early Start Denver Model program showed greater improvements following it. This study documents the successful implementation of an intensive early intervention program in pre-existing community preschools, underlining the importance of the integration of research-supported intervention programs into community settings.

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29. Tsilioni I, Pantazopoulos H, Conti P, Leeman SE, Theoharides TC. IL-38 inhibits microglial inflammatory mediators and is decreased in amygdala of children with autism spectrum disorder. Proceedings of the National Academy of Sciences of the United States of America. 2020 ; 117(28) : 16475-80.

Autism spectrum disorder (ASD) is characterized by impaired social interactions and communication. The pathogenesis of ASD is not known, but it involves activation of microglia. We had shown that the peptide neurotensin (NT) is increased in the serum of children with ASD and stimulates cultured adult human microglia to secrete the proinflammatory molecules IL-1β and CXCL8. This process is inhibited by the cytokine IL-37. Another cytokine, IL-38, has been reported to have antiinflammatory actions. In this report, we show that pretreatment of cultured adult human microglia with recombinant IL-38 (aa3-152, 1-100 ng/mL) inhibits (P < 0.0001) NT-stimulated (10 nM) secretion of IL-1β (at 1 ng/mL) and CXCL8 (at 100 ng/mL). In fact, IL-38 (aa3-152, 1 ng/mL) is more potent than IL-37 (100 ng/mL). Here, we report that pretreatment with IL-38 (100 ng/mL) of embryonic microglia (HMC3), in which secretion of IL-1β was undetectable, inhibits secretion of CXCL8 (P = 0.004). Gene expression of IL-38 and its receptor IL-36R are decreased (P = 0.001 and P = 0.04, respectively) in amygdala from patients with ASD (n = 8) compared to non-ASD controls (n = 8), obtained from the University of Maryland NeuroBioBank. IL-38 is increased (P = 0.03) in the serum of children with ASD. These findings indicate an important role for IL-38 in the inhibition of activation of human microglia, thus supporting its development as a treatment approach for ASD.

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30. Virolainen S, Hussien W, Dalibalta S. Autism spectrum disorder in the United Arab Emirates : potential environmental links. Reviews on environmental health. 2020.

Autism spectrum disorder (ASD) has been experiencing an increase in global prevalence in recent decades. While many factors could account for this reality, certain environmental links have been shown to contribute to ASD development and etiology. The Middle East has had relatively little published research on ASD etiology although statistics indicate that ASD affects 1 in 146 births in the United Arab Emirates (UAE). This review therefore aims to examine potential causes of ASD within the UAE specifically, focusing on environmental links that may contribute to the rise in ASD cases in this population. Significantly, suboptimal breastfeeding practices, high levels of vitamin D deficiency, increased exposure to pollution, pesticides and heavy metals within the UAE may all be potentially important contributing factors to ASD in this population. Our findings support the notion that there are key links between various environmental factors and ASD prevalence in the UAE. The lack of knowledge and much research on ASD within the UAE deeply necessitates further studies on its etiology as it poses a serious public health challenge in the region and globally.

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31. Wilkinson CL, Gabard-Durnam LJ, Kapur K, Tager-Flusberg H, Levin AR, Nelson CA. Use of longitudinal EEG measures in estimating language development in infants with and without familial risk for autism spectrum disorder. Neurobiology of language (Cambridge, Mass). 2020 ; 1(1) : 33-53.

Language development in children with autism spectrum disorder (ASD) varies greatly among affected individuals and is a strong predictor of later outcomes. Younger siblings of children with ASD have increased risk of ASD, but also language delay. Identifying neural markers of language outcomes in infant siblings could facilitate earlier intervention and improved outcomes. This study aimed to determine whether EEG measures from the first 2-years of life can explain heterogeneity in language development in children at low- and high-risk for ASD, and to determine whether associations between EEG measures and language development are different depending on ASD risk status or later ASD diagnosis. In this prospective longitudinal study EEG measures collected between 3-24 months were used in a multivariate linear regression model to estimate participants’ 24-month language development. Individual baseline longitudinal EEG measures included (1) the slope of EEG power across 3-12 months or 3-24 months of life for 6 canonical frequency bands, (2) estimated EEG power at age 6-months for the same frequency bands, and (3) terms representing the interaction between ASD risk status and EEG power measures. Modeled 24-month language scores using EEG data from either the first 2-years (Pearson R = 0.70, 95% CI 0.595-0.783, P=1x10(-18)) or the first year of life (Pearson R=0.66, 95% CI 0.540-0.761, P=2.5x10(-14)) were highly correlated with observed scores. All models included significant interaction effects of risk on EEG measures, suggesting that EEG-language associations are different depending on risk status, and that different brain mechanisms effect language development in low-versus high-risk infants.

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Annonces

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