Pubmed du 04/06/20

jeudi 4 juin 2020

1. An S, Kanderzhanova A, Akhmetova A, Foster F, Chan CK. "Chasing hope" : Parents’ perspectives on complementary and alternative interventions for children with autism in Kazakhstan. Autism ;2020 (Jun 4):1362361320923494.

The article reports the findings of a qualitative research study on how and why parents of autistic children in Kazakhstan utilize complementary and alternative medicine. We found that parents turn to complementary and alternative medicine because of the lack of professional care options available to them and in pursuit for hope and opportunities for their children with ASD.

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2. Bochynska A, Coventry KR, Vulchanov V, Vulchanova M. Tell me where it is : Selective difficulties in spatial language on the autism spectrum. Autism ;2020 (Jun 4):1362361320921040.

How we think and talk about space is an essential ability, necessary for understanding the world around us. We recruit spatial thinking every day when finding our way or using tools but also in more advanced tasks, such as reading complex graphs or maps. We do so also in daily communication when we use spatial language, terms such as under, over, to the left of or in front of, and when we give instructions. Spatial terms appear in children’s early vocabularies and continue to develop until late childhood or even early adolescence. Because spatial language develops over many years, some spatial terms are mastered very early, whereas others take longer to acquire. In the current set of studies, we tested how intellectually high-functioning children and adults on the autism spectrum use and understand these early- and late-acquired spatial terms in comparison to typically developing age-matched individuals. We found that children and adults on the autism spectrum experience difficulties with the use of some spatial terms (e.g. near and far or out of and down off) but not with others, which are acquired early (e.g. in and on or over and under). We also found that remembering spatial terms from short stories was more difficult for the individuals on the autism spectrum compared with typically developing individuals. These results reveal difficulties that can profoundly affect everyday communication of children and adults on the autism spectrum but also open new directions of research on language development in autism spectrum disorders.

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3. Carpita B, Carmassi C, Calderoni S, Muti D, Muscarella A, Massimetti G, Cremone IM, Gesi C, Conti E, Muratori F, Dell’Osso L. The broad autism phenotype in real-life : clinical and functional correlates of autism spectrum symptoms and rumination among parents of patients with autism spectrum disorder - Corrigendum. CNS Spectr ;2020 (Jun 4):1.

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4. Corona LL, Weitlauf AS, Hine J, Berman A, Miceli A, Nicholson A, Stone C, Broderick N, Francis S, Juárez AP, Vehorn A, Wagner L, Warren Z. Parent Perceptions of Caregiver-Mediated Telemedicine Tools for Assessing Autism Risk in Toddlers. J Autism Dev Disord ;2020 (Jun 2):1-11.

Telemedicine tools have potential for increasing access to diagnostic services for children with autism spectrum disorder (ASD). Past work has utilized tele-assessment procedures in which remote psychologists observe administration of interactive screening instruments by trained, on-site providers. Although promising, this approach relies on two clinicians, limiting its efficiency and scalability. The present study examined the use, acceptability, and parents’ perceptions of two caregiver-mediated tools for assessing ASD risk in toddlers, in which remote clinicians guided parents to complete interactive screening activities with their children. Most parents found tele-assessment to be comfortable, and many reported liking the parent-led nature of these tools. Parents also offered constructive feedback, which was used to modify the tele-assessment process for future study.

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5. Dinkler L, Taylor MJ, Råstam M, Hadjikhani N, Bulik CM, Lichtenstein P, Gillberg C, Lundström S. Anorexia nervosa and autism : a prospective twin cohort study. J Child Psychol Psychiatry ;2020 (Jun 4)

BACKGROUND : Anorexia nervosa (AN) and autism spectrum disorder (ASD) may be phenotypically and etiologically linked. However, due to the absence of prospective studies, it remains unclear whether the elevation of autistic traits in AN is evident in early childhood. Here, we prospectively investigated autistic traits before and after the first diagnosis of AN. METHODS : In a population-based sample of 5,987 individuals (52.4% female) from the Child and Adolescent Twin Study in Sweden, parents reported autistic traits at ages 9 and 18. AN and ASD diagnoses were retrieved from the Swedish National Patient Register. In addition, AN diagnoses were ascertained by parent-reported treatment for AN. We compared whether individuals with and without AN differed in autistic traits before the first diagnosis of AN (age 9) and after the first diagnosis of AN (age 18). RESULTS : We did not find evidence for elevated autistic traits in 9-year-old children later diagnosed with AN. At age 18, however, there was a marked elevation in restricted/repetitive behavior and interests, but only in the subgroup of individuals with acute AN. A less pronounced elevation was observed for social communication problems. CONCLUSIONS : Coping strategies in individuals with ASD and the somewhat different female ASD phenotype may explain why we did not find elevated autistic traits in children who later developed AN. Alternatively, it is possible that elevated autistic traits were not present prior to the onset of AN, thus questioning the previously reported elevated prevalence of ASD in AN. Future studies should use tailored measurements in order to investigate whether autistic traits in individuals with AN are best conceptualized as an epiphenomenon of the acute AN phase or whether these symptoms indeed represent ASD as a clinically verifiable neurodevelopmental disorder.

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6. Drakulic D, Djurovic S, Syed YA, Trattaro S, Caporale N, Falk A, Ofir R, Heine VM, Chawner S, Rodriguez-Moreno A, van den Bree MBM, Testa G, Petrakis S, Harwood AJ. Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD. Mol Autism ;2020 (Jun 1) ;11(1):42.

Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental disorders (NDD), including those falling within the autism spectrum disorders (ASD). A key question is whether this correlation between genetics and clinical presentation at the level of the patient can be translated to the cell phenotypes arising from the neurodevelopment of patient induced pluripotent stem cells (iPSCs).Here, we examine how iPSCs derived from ASD patients with an associated CNV inform our understanding of the genetic and biological mechanisms underlying the aetiology of ASD. We consider selection of genetically characterised patient iPSCs ; use of appropriate control lines ; aspects of human neurocellular biology that can capture in vitro the patient clinical phenotype ; and current limitations of patient iPSC-based studies. Finally, we consider how future research may be enhanced to maximise the utility of CNV patients for research of pathological mechanisms or therapeutic targets.

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7. Glennon JM, D’Souza H, Mason L, Karmiloff-Smith A, Thomas MSC. Visuo-attentional correlates of Autism Spectrum Disorder (ASD) in children with Down syndrome : A comparative study with children with idiopathic ASD. Res Dev Disabil ;2020 (Jun 4) ;104:103678.

BACKGROUND : Children with Down syndrome (DS) are at increased likelihood of Autism Spectrum Disorder (ASD) relative to the general population. To better understand the nature of this comorbidity, we examined the visuo-attentional processes associated with autistic trait expression in children with DS, focusing specifically on attentional disengagement and visual search performance. METHOD : We collected eye-tracking data from children with DS (n = 15) and children with idiopathic ASD (iASD, n = 16) matched according to chronological age. Seven children with DS had a formal clinical diagnosis of ASD (DS+ASD). RESULTS : In children with iASD, but not DS, higher autistic trait levels were associated with decreased temporal facilitation on a gap-overlap task, implying increased visuospatial orienting efficiency. In all cases, higher autistic trait levels were associated with improved visual search performance according to decreased target detection latency. On a visual search task, children with DS+ASD outperformed their peers with DS-ASD, mirroring the phenotypic advantage associated with iASD. We found no evidence of a relationship between attentional disengagement and visual search performance, providing preliminary evidence of a differentiation in terms of underlying visuo-attentional mechanism. CONCLUSION : We illustrate the value of progressing beyond insensitive behavioural measures of phenotypic description to examine, in a more fine-grained way, the attentional features associated with ASD comorbidity in children with DS.

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8. Granieri JE, McNair ML, Gerber AH, Reifler RF, Lerner MD. Atypical social communication is associated with positive initial impressions among peers with autism spectrum disorder. Autism ;2020 (Jun 4):1362361320924906.

Atypical social communication is a key indicator of autism spectrum disorder and has long been presumed to interfere with friendship formation and first impressions among typically developing youth. However, emerging literature suggests that such atypicalities may function differently among groups of peers with autism spectrum disorder. The current study aimed to investigate the relationship between atypical social communication patterns and first impression sociometric ratings by peers in groups of youth with autism spectrum disorder. Findings suggest that, contrary to typically developing individuals, several forms of atypical communication among youth with autism spectrum disorder are associated with more positive first impressions by others with autism spectrum disorder. This suggests that interventions designed to increase friendships among youth with autism spectrum disorder may benefit from reframing their approach to addressing atypical social communication.

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9. Lawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Bookheimer SY, Dapretto M. Neural responsivity to social rewards in autistic female youth. Transl Psychiatry ;2020 (Jun 2) ;10(1):178.

Autism is hypothesized to be in part driven by a reduced sensitivity to the inherently rewarding nature of social stimuli. Previous neuroimaging studies have indicated that autistic males do indeed display reduced neural activity to social rewards, but it is unknown whether this finding extends to autistic females, particularly as behavioral evidence suggests that affected females may not exhibit the same reduction in social motivation as their male peers. We therefore used functional magnetic resonance imaging to examine social reward processing during an instrumental implicit learning task in 154 children and adolescents (ages 8-17) : 39 autistic girls, 43 autistic boys, 33 typically developing girls, and 39 typically developing boys. We found that autistic girls displayed increased activity to socially rewarding stimuli, including greater activity in the nucleus accumbens relative to autistic boys, as well as greater activity in lateral frontal cortices and the anterior insula compared with typically developing girls. These results demonstrate for the first time that autistic girls do not exhibit the same reduction in activity within social reward systems as autistic boys. Instead, autistic girls display increased neural activation to such stimuli in areas related to reward processing and salience detection. Our findings indicate that a reduced sensitivity to social rewards, as assessed with a rewarded instrumental implicit learning task, does not generalize to affected female youth and highlight the importance of studying potential sex differences in autism to improve our understanding of the condition and its heterogeneity.

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10. Leader G, O’Reilly M, Gilroy SP, Chen JL, Ferrari C, Mannion A. Comorbid Feeding and Gastrointestinal Symptoms, Challenging Behavior, Sensory Issues, Adaptive Functioning and Quality of Life in Children and Adolescents with Autism Spectrum Disorder. Dev Neurorehabil ;2020 (Jun 4):1-10.

Children and adolescents diagnosed with an autism spectrum disorder (ASD) often demonstrate difficulties with feeding. The goal of the current study was to investigate co-occurring issues that often accompany feeding problems in 120 children and adolescents with ASD. Method : This study investigated the relationship between feeding problems and gastrointestinal symptoms, challenging behavior and sensory issues, quality of life, adaptive functioning and use of complementary and alternative medicine (CAM). Results : High rates of feeding problems, gastrointestinal symptoms, challenging behavior and sensory issues were endorsed by caregivers. Considerable differences were observed in the levels of gastrointestinal symptoms, challenging behavior, sensory issues, quality of life and CAM practices.Conclusion : The results of this study extend the present literature by highlighting comorbid conditions related to feeding problems and how feeding problems impact quality of life and adaptive behavior.

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11. Lefter R, Ciobica A, Antioch I, Ababei DC, Hritcu L, Luca AC. Oxytocin Differentiated Effects According to the Administration Route in a Prenatal Valproic Acid-Induced Rat Model of Autism. Medicina (Kaunas) ;2020 (May 29) ;56(6)

Background and objectives : The hormone oxytocin (OXT) has already been reported in both human and animal studies for its promising therapeutic potential in autism spectrum disorder (ASD), but the comparative effectiveness of various administration routes, whether central or peripheral has been insufficiently studied. In the present study, we examined the effects of intranasal (IN) vs. intraperitoneal (IP) oxytocin in a valproic-acid (VPA) autistic rat model, focusing on cognitive and mood behavioral disturbances, gastrointestinal transit and central oxidative stress status. Materials and Methods : VPA prenatally-exposed rats (500 mg/kg ; age 90 days) in small groups of 5 (n = 20 total) were given OXT by IP injection (10 mg/kg) for 8 days consecutively or by an adapted IN pipetting protocol (12 IU/kg, 20 μL/day) for 4 consecutive days. Behavioral tests were performed during the last three days of OXT treatment, and OXT was administrated 20 minutes before each behavioral testing for each rat. Biochemical determination of oxidative stress markers in the temporal area included superoxide dismutase (SOD), glutathione peroxidase (GPx) and malondialdehyde (MDA). A brief quantitative assessment of fecal discharge over a period of 24 hours was performed at the end of the OXT treatment to determine differences in intestinal transit. Results : OXT improved behavioral and oxidative stress status in both routes of administration, but IN treatment had significantly better outcome in improving short-term memory, alleviating depressive manifestations and mitigating lipid peroxidation in the temporal lobes. Significant correlations were also found between behavioral parameters and oxidative stress status in rats after OXT administration. The quantitative evaluation of the gastrointestinal (GI) transit indicated lower fecal pellet counts in the VPA group and homogenous average values for the control and both OXT treated groups. Conclusions : The data from the present study suggest OXT IN administration to be more efficient than IP injections in alleviating autistic cognitive and mood dysfunctions in a VPA-induced rat model. OXT effects on the cognitive and mood behavior of autistic rats may be associated with its effects on oxidative stress. Additionally, present results provide preliminary evidence that OXT may have a balancing effect on gastrointestinal motility.

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12. Ma L, Hagerman PJ. Autofluorescence-based analyses of intranuclear inclusions of Fragile X-associated tremor/ataxia syndrome. Biotechniques ;2020 (Jun 3)

Intranuclear inclusions present in the brains of patients with Fragile X-associated tremor/ataxia syndrome (FXTAS) have historically been difficult to study due to their location and scarcity. The recent finding that these particles autofluoresce has complicated the use of immunofluorescence techniques, but also offers new opportunities for purification. We have ascertained the features of the autofluorescence, including its excitation/emission spectrum, similarities and differences compared with lipofuscin autofluorescence, and its presence/absence under various fixation, mounting and UV light exposure conditions. Immunofluorescence at various wavelengths was conducted to determine which conditions are ideal for minimizing autofluorescence confounds. We also present a technique for autofluorescence-based sorting of FXTAS inclusions using flow cytometry, which will allow researchers in the field to purify inclusions more successfully for unbiased analyses.

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13. Marsh L, Brown M, McCann E. The views and experiences of fathers regarding their young child’s intellectual and developmental disability diagnosis : findings from a qualitative study. J Clin Nurs ;2020 (Jun 4)

AIMS AND OBJECTIVES : The aim of this paper is to report the views and experiences of fathers following their child’s diagnosis of an intellectual and developmental disability (IDD). BACKGROUND : There is a growing interest in understanding the experiences of fathers of children with IDD given the transformation of the structural change of fathers’ roles within the family and wider society. DESIGN : A qualitative design was used to elicit the view and experiences of fathers. METHODS : A total of ten Irish fathers participated in face-to-face interviews. The data were thematically analysed. The COREQ guidelines for reporting qualitative studies was used in the development of this paper. RESULTS : The key themes that emerged were (i) the confirmation of the child’s diagnosis (ii) the impact of the diagnosis and (iii) father’s motivation to participate in disability research. CONCLUSIONS : This study informs and develops a further understanding of the international evidence-base of fathers receiving a confirmation of a child’s diagnosis of an intellectual and developmental disability, the impact of the diagnosis on fathers and their motivation to share their stories to add to the disability research. Health and social care practitioners have important contributions to make in meeting the needs of fathers. There are specific areas to consider in terms of practice, education and research that require further attention and development to ensure fathers’ distinct needs regarding their child’s diagnosis of IDD are known and responded to effectively. RELEVANCE TO CLINICAL PRACTICE : This study highlights that when the child’s disability is confirmed, fathers experience a diverse range of mixed emotions. Health and social care practitioners including nurses need to be aware of the impact of the diagnosis upon fathers. There is scope to develop the knowledge, skills and confidence of health and social care practitioners regarding the experiences of fathers and how they can further support fathers and their families during the critical time of a disability disclosure.

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14. McLay L, France K, Blampied N, van Deurs J, Hunter J, Knight J, Hastie B, Carnett A, Woodford E, Gibbs R, Lang R. Function-Based Behavioral Interventions for Sleep Problems in Children and Adolescents with Autism : Summary of 41 Clinical Cases. J Autism Dev Disord ;2020 (Jun 2)

This case analysis involved 41 clinical cases wherein children and adolescents with autism spectrum disorder (ASD) received a behavioral intervention for sleep problems. This study intended to (a) evaluate the efficacy of function-based behavioral sleep treatments ; (b) elucidate variables impacting response to such interventions ; (c) inform practitioners addressing sleep problems without a robust evidence-base ; and (d) suggest priorities for future sleep research. Interventions included antecedent- and consequence-based modifications, and the teaching of replacement behaviors. Data were analysed using modified Brinley Plots and effect size estimates. Outcomes suggest that multi-component, parent-delivered, function-based interventions may ameliorate sleep problems in children and adolescents with ASD. The need for future research utilizing rigorous experimental designs is supported.

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15. Merrick H, King C, McConachie H, Parr JR, Le Couteur A. Experience of transfer from child to adult mental health services of young people with autism spectrum disorder. BJPsych Open ;2020 (Jun 3) ;6(4):e58.

BACKGROUND : Transition from child-centred to adult mental health services has been reported as challenging for young people. It can be especially difficult for young people with autism spectrum disorder (ASD) as they manage the challenges of adolescence and navigate leaving child and adolescent mental health services (CAMHS). AIMS : This study examines the predictors of transfer to adult mental health services, and using a qualitative analysis, explores the young people’s experiences of transition. METHOD : A UK sample of 118 young people aged 14-21 years, with ASD and additional mental health problems, recruited from four National Health Service trusts were followed up every 12 months over 3 years, as they were discharged from CAMHS. Measures of mental health and rich additional contextual information (clinical, family, social, educational) were used to capture their experiences. Regression and framework analyses were used. RESULTS : Regression analysis showed having an attention-deficit hyperactivity disorder diagnosis and taking medication were predictors of transfer from child to adult mental health services. Several features of young people’s transition experience were found to be associated with positive outcomes and ongoing problems, including family factors, education transitions and levels of engagement with services. CONCLUSIONS : The findings show the importance of monitoring and identifying those young people that might be particularly at risk of negative outcomes and crisis presentations. Although some young people were able to successfully manage their mental health following discharge from CAMHS, others reported levels of unmet need and negative experiences of transition.

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16. Mills WR, Sender S, Lichtefeld J, Romano N, Reynolds K, Price M, Phipps J, White L, Howard S, Poltavski D, Barnes R. Supporting individuals with intellectual and developmental disability during the first 100 days of the COVID-19 outbreak in the USA. J Intellect Disabil Res ;2020 (Jun 3)

BACKGROUND : It is unknown how the novel Coronavirus SARS-CoV-2, the cause of the current acute respiratory illness COVID-19 pandemic that has infected millions of people, affects people with intellectual and developmental disability (IDD). The aim of this study is to describe how individuals with IDD have been affected in the first 100 days of the COVID-19 pandemic. METHODS : Shortly after the first COVID-19 case was reported in the USA, our organisation, which provides continuous support for over 11 000 individuals with IDD, assembled an outbreak committee composed of senior leaders from across the health care organisation. The committee led the development and deployment of a comprehensive COVID-19 prevention and suppression strategy, utilising current evidence-based practice, while surveilling the global and local situation daily. We implemented enhanced infection control procedures across 2400 homes, which were communicated to our employees using multi-faceted channels including an electronic resource library, mobile and web applications, paper postings in locations, live webinars and direct mail. Using custom-built software applications enabling us to track patient, client and employee cases and exposures, we leveraged current public health recommendations to identify cases and to suppress transmission, which included the use of personal protective equipment. A COVID-19 case was defined as a positive nucleic acid test for SARS-CoV-2 RNA. RESULTS : In the 100-day period between 20 January 2020 and 30 April 2020, we provided continuous support for 11 540 individuals with IDD. Sixty-four per cent of the individuals were in residential, community settings, and 36% were in intermediate care facilities. The average age of the cohort was 46 ± 12 years, and 60% were male. One hundred twenty-two individuals with IDD were placed in quarantine for exhibiting symptoms and signs of acute infection such as fever or cough. Sixty-six individuals tested positive for SARS-CoV-2, and their average age was 50. The positive individuals were located in 30 different homes (1.3% of total) across 14 states. Fifteen homes have had single cases, and 15 have had more than one case. Fifteen COVID-19-positive individuals were hospitalised. As of 30 April, seven of the individuals hospitalised have been discharged back to home and are recovering. Five remain hospitalised, with three improving and two remaining in intensive care and on mechanical ventilation. There have been three deaths. We found that among COVID-19-positive individuals with IDD, a higher number of chronic medical conditions and male sex were characteristics associated with a greater likelihood of hospitalisation. CONCLUSIONS : In the first 100 days of the COVID-19 outbreak in the USA, we observed that people with IDD living in congregate care settings can benefit from a coordinated approach to infection control, case identification and cohorting, as evidenced by the low relative case rate reported. Male individuals with higher numbers of chronic medical conditions were more likely to be hospitalised, while most younger, less chronically ill individuals recovered spontaneously at home.

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17. Mitchell MJ, Newall FH, Sokol J, Williams KJ. Simulation-Based Education for Staff Managing Aggression and Externalizing Behaviors in Children With Autism Spectrum Disorder in the Hospital Setting : Pilot and Feasibility Study Protocol for a Cluster Randomized Controlled Trial. JMIR Res Protoc ;2020 (Jun 4) ;9(6):e18105.

BACKGROUND : Children with autism spectrum disorder (ASD) frequently demonstrate aggression and externalizing behaviors in the acute care hospital environment. Pediatric acute care nursing staff are often not trained in managing aggression and, in particular, lack confidence in preventing and managing externalizing behaviors in children with ASD. High-fidelity simulation exercises will be used in this study to provide deliberate practice for acute care pediatric nursing staff in the management of aggressive and externalizing behaviors. OBJECTIVE : The purpose of this study is to conduct a pilot and feasibility cluster randomized controlled trial (RCT) to evaluate the effectiveness of simulation-based education for staff in managing aggression and externalizing behaviors of children with ASD in the hospital setting. METHODS : This study has a mixed design, with between-group and within-participant comparisons to explore the acceptability and feasibility of delivering a large-scale cluster RCT. The trial process, including recruitment, completion rates, contamination, and completion of outcome measures, will be assessed and reported as percentages. This study will assess the acceptability of the simulation-based training format for two scenarios involving an adolescent with autism, with or without intellectual disability, who displays aggressive and externalizing behaviors and the resulting change in confidence in managing clinical aggression. Two pediatric wards of similar size and patient complexity will be selected to participate in the study ; they will be randomized to receive either simulation-based education plus web-based educational materials or the web-based educational materials only. Change in confidence will be assessed using pre- and posttraining surveys for bedside nursing staff exposed to the training and the control group who will receive the web-based training materials. Knowledge retention 3 months posttraining, as well as continued confidence and exposure to clinical aggression, will be assessed via surveys. Changes in confidence and competence will be compared statistically with the chi-square test using before-and-after data to compare the proportion of those who have high confidence between the two arms at baseline and at follow-up. The simulation-based education will be recorded with trained assessors reviewing participants’ abilities to de-escalate aggressive behaviors using a validated tool. This data will be analyzed using mean values and SDs to understand the variation in performance of individuals who undertake the training. Data from each participating ward will be collected during each shift for the duration of the study to assess the number of aggressive incidents and successful de-escalation for patients with ASD. Total change in Code Grey activations will also be assessed, with both datasets analyzed using descriptive statistics. RESULTS : This study gained ethical approval from The Royal Children’s Hospital Melbourne Human Research Ethics Committee (HREC) on November 1, 2019 (HREC reference number : 56684). Data collection was completed in February 2020. Data analysis is due to commence with results anticipated by August 2020. CONCLUSIONS : We hypothesize that this study is feasible to be conducted as a cluster RCT and that simulation-based training will be acceptable for acute care pediatric nurses. We anticipate that the intervention ward will have increased confidence in managing clinical aggression in children with ASD immediately and up to 3 months posttraining. TRIAL REGISTRATION : Australian New Zealand Clinical Trials Registry (ANZCTR) ACTRN12620000139976 ; INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID) : DERR1-10.2196/18105.

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18. Panerai S, Ferri R, Catania V, Zingale M, Ruccella D, Gelardi D, Fasciana D, Elia M. Sensory Profiles of Children with Autism Spectrum Disorder with and without Feeding Problems : A Comparative Study in Sicilian Subjects. Brain Sci ;2020 (May 31) ;10(6)

The aim of this study is to better understand the relationship between sensory and feeding problems in Autism Spectrum Disorder (ASD) by comparing sensory responsiveness of ASD children with (ASD-W) and without (ASD-WO) feeding problems. The feeding and sensory characteristics of 111 children with ASD (37 ASD-W and 74 ASD-WO) were assessed by using two questionnaires tapping on feeding problems and two on sensory problems. A comparative study was carried out with between-group as well as intra-group comparisons design ; a correlation analysis was also added. A statistically significant correlation was found between sensory and feeding problems. ASD-W children showed more severe and extensively impaired sensory responses than ASD-WO, with lower sensory adaptation and more generalized and severe deficits in all subdomains. Taste/Smell sensitivity was strongly impaired only in ASD-W, whereas in ASD-WO it was found to be a point of strength. Both groups showed a Hyporesponsive profile, though it was more marked in ASD-W. Both groups showed strengths in Visual/Auditory sensitivity, Low-Energy/Weak, and Movement sensitivity, again more marked in ASD-WO. These results might prove to be particularly useful for sensory training and psychoeducational treatment.

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19. Ponde V, Desai A, Ekambaram K, Thakur S. Dental procedure under opioid-free balanced anaesthesia in a child with Rett syndrome who convulsed on every attempt to feed : Case report. Indian J Anaesth ;2020 (Apr) ;64(4):325-327.

Rett syndrome is a genetic neurodevelopmental disorder which occurs in females and includes autism, spasticity, hypotonia, microcephaly, scoliosis, stereotyping, abnormal respiratory control and seizures. They are at an increased predisposition for QT interval prolongation and cardiac arrhythmias. An 8-year-old severely intellectually impaired girl with Rett syndrome was referred to us for anaesthesia for multiple dental abscess drainage and rehabilitation. Her frequency of convulsions had increased and she convulsed every time an attempt was made to feed her. The pain of chewing exacerbated the convulsions. The cornerstone of our management was to provide adequate pain relief, anaesthesia without muscle relaxant and opioids, and judicious use of local anaesthetics. We discuss the anaesthetic management and its advantages and limitations in this case report.

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20. Rast JE, Anderson KA, Roux AM, Shattuck PT. Medication Use in Youth with Autism and Attention-Deficit/ Hyperactivity Disorder. Acad Pediatr ;2020 (May 31)

OBJECTIVE : Children with Autism Spectrum Disorder (ASD) may benefit from medication to treat a diverse array of behaviors and health conditions common in this population including co-occurring conditions associated with ASD, such as attention-deficit/hyperactivity disorder (ADHD) and anxiety. However, prescribing guidelines are lacking and research providing national estimates of medication use in youth with ASD is scant. We examined a nationally representative sample of children and youth ages 6-17 with a current diagnosis of ASD to estimate the prevalence and correlates of psychotropic medication. METHODS : This study used data from the 2016 and 2017 National Survey of Children’s Health. We estimated unadjusted prevalence rates and used multivariable logistic regression to estimate the odds of medication use in children and youth across three groups : those with ASD-only, those with ASD and ADHD, and those with ADHD-only. RESULTS : Two-thirds of children ages 6-11 and three-quarters of youth ages 12-17 with ASD and ADHD were taking medication, similar to children (73%) and youth with ADHD-only (70%) and more than children (13%) and youth with ASD-only (22%). There were no correlates of medication use that were consistent across group and medication type. Youth with ASD and ADHD were more likely to be taking medication for emotion, concentration, or behavior than youth with ADHD-only, and nearly half took ASD-specific medication. CONCLUSION : This study adds to the literature on medication use in children and youth with ASD, presenting recent, nationally-representative estimates of high prevalence of psychotropic drug use among children with ASD and ADHD.

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21. Ritz B, Yan Q, Uppal K, Liew Z, Cui X, Ling C, Inoue K, von Ehrenstein O, Walker DI, Jones DP. Untargeted Metabolomics Screen of Mid-pregnancy Maternal Serum and Autism in Offspring. Autism Res ;2020 (Jun 4)

Discovering pathophysiologic networks in a blood-based approach may help to generate valuable tools for early treatment or preventive measures in autism. To date targeted or untargeted metabolomics approaches to identify metabolic features and pathways affecting fetal neurodevelopment have rarely been applied to pregnancy samples, that is, an early period potentially relevant for the development of autism spectrum disorders (ASD). We conducted a population-based study relying on autism diagnoses retrieved from California Department of Developmental Services record. After linking cases to and sampling controls from birth certificates, we retrieved stored maternal mid-pregnancy serum samples collected as part of the California Prenatal Screening Program from the California Biobank for children born 2004 to 2010 in the central valley of California. We retrieved serum for 52 mothers whose children developed autism and 62 population controls originally selected from all eligible children matched by birth year and child’s sex. Also, we required that these mothers were relatively low or unexposed to air pollution and select pesticides during early pregnancy. We identified differences in metabolite levels in several metabolic pathways, including glycosphingolipid biosynthesis and metabolism, N-glycan and pyrimidine metabolism, bile acid pathways and, importantly, C21-steroid hormone biosynthesis and metabolism. Disturbances in these pathways have been shown to be relevant for neurodevelopment in rare genetic syndromes or implicated in previous studies of autism. This study provides new insight into maternal mid-pregnancy metabolic features possibly related to the development of autism and an incentive to explore whether these pathways and metabolites are useful for early diagnosis, treatment, or prevention. LAY SUMMARY : This study found that in mid-pregnancy the blood of mothers who give birth to a child that develops autism has some characteristic features that are different from those of blood samples taken from control mothers. These features are related to biologic mechanisms that can affect fetal brain development. In the future, these insights may help identify biomarkers for early autism diagnosis and treatment or preventive measures.

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22. Seernani D, Ioannou C, Damania K, Spindler K, Hill H, Foulsham T, Smyrnis N, Bender S, Fleischhaker C, Biscaldi M, Ebner-Priemer U, Klein C. Studying global processing in autism and attention-deficit/hyperactivity disorder with gaze movements : The example of a copying task. PLoS One ;2020 ;15(6):e0224186.

Recent discussions in the literature, along with the revision of the Diagnostic and Statistical Manual (DSM) (American Psychiatric Association 2013), suggest aetiological commonalities between the highly comorbid Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). Addressing this discussion requires studying these disorders together by comparing constructs typical to each of them. In the present study, we investigate global processing, known to be difficult for participants with ASD, and Intra-Subject Variability (ISV), known to be consistently increased in participants with ADHD, in groups, aged 10-13 years, with ADHD (n = 25), ASD without comorbid ADHD (ASD-) (n = 13) and ASD with ADHD (ASD+) (n = 18) in comparison with a typically developing group (n = 22). A Copying task, typically requiring global processing and in this case particularly designed using equally complex stimuli to also measure ISV across trials, was selected. Oculomotor measures in this task proved to be particularly sensitive to group differences. While increased ISV was not observed in the present task in participants with ADHD, both ASD groups looked longer on the figure to be drawn, indicating that global processing takes longer in ASD. However, the ASD+ group fixated on the figure only between drawing movements, whereas the ASD- group did this throughout the drawing process. The present study provides evidence towards ASD and ADHD being separate, not-overlapping, disorders. Since the pure ASD- group was affected more by central coherence problems than the ASD+ group, it may suggest that neuropsychological constructs interact differently in different clinical groups and sub-groups.

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23. Shih PY, Hsieh BY, Lin MH, Huang TN, Tsai CY, Pong WL, Lee SP, Hsueh YP. CTTNBP2 Controls Synaptic Expression of Zinc-Related Autism-Associated Proteins and Regulates Synapse Formation and Autism-like Behaviors. Cell Rep ;2020 (Jun 2) ;31(9):107700.

Synaptic dysregulation is a critical feature of autism spectrum disorders (ASDs). Among various autism-associated genes, cortactin binding protein 2 (CTTNBP2) is a cytoskeleton regulator predominantly expressed in neurons and highly enriched at dendritic spines. Here, using Cttnbp2 knockout and ASD-linked mutant mice, we demonstrate that Cttnbp2 deficiency reduces zinc levels in the brain, alters synaptic protein targeting, impairs dendritic spine formation and ultrastructure of postsynaptic density, and influences neuronal activation and autism-like behaviors. A link to autism, the NMDAR-SHANK pathway, and zinc-related regulation are three features shared by CTTNBP2-regulated synaptic proteins. Zinc supplementation rescues the synaptic expression of CTTNBP2-regulated proteins. Moreover, zinc supplementation and administration of D-cycloserine, an NMDAR coagonist, improve the social behaviors of Cttnbp2-deficient mice. We suggest that CTTNBP2 controls the synaptic expression of a set of zinc-regulated autism-associated genes and influences NMDAR function and signaling, providing an example of how genetic and environmental factor crosstalk controls social behaviors.

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24. Stathopoulos S, Gaujoux R, Lindeque Z, Mahony C, Van Der Colff R, Van Der Westhuizen F, O’Ryan C. DNA Methylation Associated with Mitochondrial Dysfunction in a South African Autism Spectrum Disorder Cohort. Autism Res ;2020 (Jun 3)

Autism spectrum disorder (ASD) is characterized by phenotypic heterogeneity and a complex genetic architecture which includes distinctive epigenetic patterns. We report differential DNA methylation patterns associated with ASD in South African children. An exploratory whole-epigenome methylation screen using the Illumina 450 K MethylationArray identified differentially methylated CpG sites between ASD and controls that mapped to 898 genes (P ≤ 0.05) which were enriched for nine canonical pathways converging on mitochondrial metabolism and protein ubiquitination. Targeted Next Generation Bisulfite Sequencing of 27 genes confirmed differential methylation between ASD and control in our cohort. DNA pyrosequencing of two of these genes, the mitochondrial enzyme Propionyl-CoA Carboxylase subunit Beta (PCCB) and Protocadherin Alpha 12 (PCDHA12), revealed a wide range of methylation levels (9-49% and 0-54%, respectively) in both ASD and controls. Three CpG loci were differentially methylated in PCCB (P ≤ 0.05), while PCDHA12, previously linked to ASD, had two significantly different CpG sites (P ≤ 0.001) between ASD and control. Differentially methylated CpGs were hypomethylated in ASD. Metabolomic analysis of urinary organic acids revealed that three metabolites, 3-hydroxy-3-methylglutaric acid (P = 0.008), 3-methyglutaconic acid (P = 0.018), and ethylmalonic acid (P = 0.043) were significantly elevated in individuals with ASD. These metabolites are directly linked to mitochondrial respiratory chain disorders, with a putative link to PCCB, consistent with impaired mitochondrial function. Our data support an association between DNA methylation and mitochondrial dysfunction in the etiology of ASD. LAY SUMMARY : Epigenetic changes are chemical modifications of DNA which can change gene function. DNA methylation, a type of epigenetic modification, is linked to autism. We examined DNA methylation in South African children with autism and identified mitochondrial genes associated with autism. Mitochondria are power-suppliers in cells and mitochondrial genes are essential to metabolism and energy production, which are important for brain cells during development. Our findings suggest that some individuals with ASD also have mitochondrial dysfunction.

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25. Sultan A, Juneja A, Bhaskar S. Co-morbidity of down syndrome with autism spectrum disorder : Dental implications. J Oral Biol Craniofac Res ;2020 (Apr-Jun) ;10(2):146-148.

Over the past several years, numerous studies have emerged documenting the high incidence (1-11%) of comorbidity of autism spectrum disorders (ASD) in Down syndrome (DS). While children with these health issues are reported to be more cognitively impaired presenting significantly lower IQ scores, they also demonstrate differences in social and expressive language skills when compared to their coequals with DS only. More than that subjects with DS and ASD comorbidity exhibit atypical behaviour manifested by stereotypic anxiety and social withdrawal when compared to DS alone. This article provides a brief understanding of this challenging concurrence along with a case report of a 12-year-old male patient with ASD-DS condition reporting with multiple missing teeth (Oligodontia).

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26. van Pelt BJ, Idris S, Jagersma G, Duvekot J, Maras A, van der Ende J, van Haren NEM, Greaves-Lord K. The ACCEPT-study : design of an RCT with an active treatment control condition to study the effectiveness of the Dutch version of PEERS® for adolescents with autism spectrum disorder. BMC Psychiatry ;2020 (Jun 1) ;20(1):274.

BACKGROUND : Social skills interventions are commonly deployed for adolescents with autism spectrum disorder (ASD). Because effective and appropriate social skills are determined by cultural factors that differ throughout the world, the effectiveness of these interventions relies on a good cultural fit. Therefore, the ACCEPT study examines the effectiveness of the Dutch Program for the Education and Enrichment of Relational Skills (PEERS®) social skills intervention. METHODS/DESIGN : This study is a two-arm parallel group randomized controlled trial (RCT) in which adolescents are randomly assigned (after baseline assessment) to one of two group interventions (PEERS® vs. active control condition). In total, 150 adolescents are to be included, with multi-informant involvement of their parents and teachers. The ACCEPT study uses an active control condition (puberty psychoeducation group training, focussing on social-emotional development) and explores possible moderators and mediators in improving social skills. The primary outcome measure is the Contextual Assessment of Social Skills (CASS). The CASS assesses social skills performance in a face to face social interaction with an unfamiliar, typically developing peer, making this a valuable instrument to assess the social conversational skills targeted in PEERS®. In addition, to obtain a complete picture of social skills, self-, parent- and teacher-reported social skills are assessed using the Social Skills improvement System (SSiS-RS) and Social Responsiveness Scale (SRS-2). Secondary outcome measures (i.e. explorative mediators) include social knowledge, social cognition, social anxiety, social contacts and feelings of parenting competency of caregivers. Moreover, demographic and diagnostic measures are assessed as potential moderators of treatment effectiveness. Assessments of adolescents, parents, and teachers take place at baseline (week 0), intermediate (week 7), post intervention (week 14), and at follow-up (week 28). CONCLUSION : This is the first RCT on the effectiveness of the PEERS® parent-assisted curriculum which includes an active control condition. The outcome of social skills is assessed using observational assessments and multi-informant questionnaires. Additionally, factors related to social learning are assessed at several time points, which will enable us to explore potential mediators and moderators of treatment effect. TRAIL REGISTRATION : Dutch trail register NTR6255 (NL6117). Registered February 8th, 2017 - retrospectively registered.

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27. Whitlock A, Fulton K, Lai MC, Pellicano E, Mandy W. Recognition of Girls on the Autism Spectrum by Primary School Educators : An Experimental Study. Autism Res ;2020 (Jun 3)

Autism has long been considered a predominantly male condition. It is increasingly understood, however, that autistic females are under-recognized. This may reflect gender stereotyping, whereby symptoms are missed in females, because it is assumed that autism is mainly a male condition. Also, some autistic girls and women may go unrecognized because there is a "female autism phenotype" (i.e., a female-typical autism presentation), which does not fit current, male-centric views of autism. Potential biases shown by educators, in their role as gatekeepers for an autism assessment, may represent a barrier to the recognition of autism in females. We used vignettes describing autistic children to test : (a) whether gender stereotyping occurs, whereby educators rate males as more likely to be autistic, compared to females with identical symptoms ; (b) whether recognition is affected by sex/gender influences on autistic presentation, whereby children showing the male autism phenotype are rated as more likely to be autistic than those with the female phenotype. Ratings by primary school educators showed a significant main effect of both gender and presentation (male phenotype vs. female phenotype) on estimations of the child in the vignette being autistic : respondents showed a bias against girls and the female autism phenotype. There was also an interaction : female gender had an effect on ratings of the female phenotype, but not on the male phenotype vignette. These findings suggest that primary school educators are less sensitive to autism in girls, through under-recognition of the female autism phenotype and a higher sensitivity to autism in males. LAY SUMMARY : Educators have an important role in identifying children who need an autism assessment, so gaps in their knowledge about how autism presents in girls could contribute to the under-diagnosis of autistic girls. By asking educators to identify autism when presented with fictional descriptions of children, this study found that educators were less able to recognize what autism "looks like" in girls. Also, when given identical descriptions of autistic boys and girls, educators were more likely to identify autism in boys. These results suggest that primary school educators might need extra help to improve the recognition of girls on the autism spectrum.

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28. Zhan X, Asmara H, Cheng N, Sahu G, Sanchez E, Zhang FX, Zamponi GW, Rho JM, Turner RW. FMRP(1-297)-tat restores ion channel and synaptic function in a model of Fragile X syndrome. Nat Commun ;2020 (Jun 2) ;11(1):2755.

Fragile X Syndrome results from a loss of Fragile X Mental Retardation Protein (FMRP). We now show that FMRP is a member of a Cav3-Kv4 ion channel complex that is known to regulate A-type potassium current in cerebellar granule cells to produce mossy fiber LTP. Mossy fiber LTP is absent in Fmr1 knockout (KO) mice but is restored by FMRP(1-297)-tat peptide. This peptide further rapidly permeates the blood-brain barrier to enter cells across the cerebellar-cortical axis that restores the balance of protein translation for at least 24 h and transiently reduces elevated levels of activity of adult Fmr1 KO mice in the Open Field Test. These data reveal that FMRP(1-297)-tat can improve function from the levels of protein translation to synaptic efficacy and behaviour in a model of Fragile X syndrome, identifying a potential therapeutic strategy for this genetic disorder.

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