Pubmed du 23/09/20

mercredi 23 septembre 2020

1. Anderson MP, Quinton R, Kelly K, Falzon A, Halladay A, Schumann CM, Hof PR, Tamminga CA, Hare CK, Amaral DG. Autism BrainNet. Arch Pathol Lab Med ;2020 (Sep 22)

CONTEXT.— : Autism spectrum disorder is a neurodevelopmental condition that affects over 1% of the population worldwide. Developing effective preventions and treatments for autism will depend on understanding the neuropathology of the disorder. While evidence from magnetic resonance imaging indicates altered development of the autistic brain, it lacks the resolution needed to identify the cellular and molecular underpinnings of the disorder. Postmortem studies of human brain tissue currently represent the only viable option to pursuing these critical studies. Historically, the availability of autism brain tissue has been extremely limited. OBJECTIVE.— : To overcome this limitation, Autism BrainNet, funded by the Simons Foundation, was formed as a network of brain collection sites that work in a coordinated fashion to develop a library of human postmortem brain tissues for distribution to researchers worldwide. Autism BrainNet has collection sites (or Nodes) in California, Texas, and Massachusetts ; affiliated, international Nodes are located in Oxford, England and Montreal, Quebec, Canada. DATA SOURCES.— : Pubmed, Autism BrainNet. CONCLUSIONS.— : Because the death of autistic individuals is often because of an accident, drowning, suicide, or sudden unexpected death in epilepsy, they often are seen in a Medical Examiner’s or Coroner’s office. Yet, autism is rarely considered when evaluating the cause of death. Advances in our understanding of chronic traumatic encephalopathy have occurred because medical examiners and neuropathologists questioned whether a pathologic change might exist in individuals who played contact sports and later developed severe behavioral problems. This article highlights the potential for equally significant breakthroughs in autism arising from the proactive efforts of medical examiners, pathologists, and coroners in partnership with Autism BrainNet.

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2. Long KA, Gordillo M, Orsmond GI. Improving the Validity and Generalizability of Adult Autism Research Through Incorporating Family and Cultural Contexts. Autism Adulthood ;2020 (Sep 1) ;2(3):177-184.

The relatively nascent empirical knowledge base regarding autism in adulthood provides an opportunity to adopt a contextual approach that conceptualizes autism features, outcomes, and supportive services as interactions between the characteristics of the condition and contextual factors across the life course. Although a contextual approach encompasses many aspects of a person’s identity and social ecology, we focus here on the closely interrelated family and cultural contexts, which have been poorly integrated into adult autism research. We argue that designing studies with a priori attention to context (e.g., family and culture) will improve the relevance and comprehensiveness of findings, which in turn will improve construct validity and provide a more accurate understanding of autism-related outcomes in adulthood. Similarly, designing and/or selecting measures that have been validated with culturally and linguistically diverse samples will improve the utility of findings and reduce spurious or null effects. More contextually informed methodologies will lead to improved generalizability and practical applications of findings. We offer concrete guidance regarding how to increase the social ecological perspective within adult autism research as it relates to study conceptualization, methodology, and measurement.

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3. Li S, Hu J, Chang R, Li Q, Wan P, Liu S. Eye Movements of Spatial Working Memory Encoding in Children with and without Autism : Chunking Processing and Reference Preference. Autism Res ;2020 (Sep 22)

Individuals with autism spectrum disorder (ASD) experience spatial working memory deficits and show different encoding mechanisms from typical developing (TD) peers. To effectively describe the encoding strategies of those with ASD and highlight their characteristics in cognitive processing, we adopted improved change detection tasks and added eye-movement indicators to investigate the chunking function and reference preference of children with and without ASD. The current study included 20 participants with ASD aged 8-16 and 20 TD children matched for age, gender, and intelligence. Experiment 1 used high/low-structured change detection tasks, and eye-movement indexes were recorded as they memorized the locations of the items to investigate spatial chunking strategies. In Experiment 2, changes in eye movement patterns were observed by adding a frame of reference. The results suggested different encoding strategies in ASD and TD individuals. The ASD group showed local processing bias and had difficulty adopting chunking strategies in spatial working memory. Eye-movement analysis suggested that they rarely showed integrated information processing tendency observed in TD children. Moreover, as a compensatory processing, they were more likely to use the frame of reference. In this study, we compared the spatial chunking strategies and reference preference of children with and without ASD, and eye-movement analysis was used to investigate the processing mechanism. These findings are significant for research on cognitive characteristics of ASD and provide a new focus for working memory training in children with ASD. LAY SUMMARY : The current study suggests that children with autism spectrum disorder are poorer at organizing items into chunks in spatial working memory, but rely more on reference frames. If the purpose of location memory is to strengthen the adaptability of children with autism, it should provide them with more clues or references. If it is for the purpose of intervention such as cognitive training, it should guide them to integrate information to improve the basic cognitive processing efficiency.

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4. Pua EPK, Thomson P, Yang JY, Craig JM, Ball G, Seal M. Individual Differences in Intrinsic Brain Networks Predict Symptom Severity in Autism Spectrum Disorders. Cereb Cortex ;2020 (Sep 22)

The neurobiology of heterogeneous neurodevelopmental disorders such as Autism Spectrum Disorders (ASD) is still unknown. We hypothesized that differences in subject-level properties of intrinsic brain networks were important features that could predict individual variation in ASD symptom severity. We matched cases and controls from a large multicohort ASD dataset (ABIDE-II) on age, sex, IQ, and image acquisition site. Subjects were matched at the individual level (rather than at group level) to improve homogeneity within matched case-control pairs (ASD : n = 100, mean age = 11.43 years, IQ = 110.58 ; controls : n = 100, mean age = 11.43 years, IQ = 110.70). Using task-free functional magnetic resonance imaging, we extracted intrinsic functional brain networks using projective non-negative matrix factorization. Intrapair differences in strength in subnetworks related to the salience network (SN) and the occipital-temporal face perception network were robustly associated with individual differences in social impairment severity (T = 2.206, P = 0.0301). Findings were further replicated and validated in an independent validation cohort of monozygotic twins (n = 12 ; 3 pairs concordant and 3 pairs discordant for ASD). Individual differences in the SN and face-perception network are centrally implicated in the neural mechanisms of social deficits related to ASD.

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5. Fu Z, Sui J, Turner JA, Du Y, Assaf M, Pearlson GD, Calhoun VD. Dynamic functional network reconfiguration underlying the pathophysiology of schizophrenia and autism spectrum disorder. Hum Brain Mapp ;2020 (Sep 23)

The dynamics of the human brain span multiple spatial scales, from connectivity associated with a specific region/network to the global organization, each representing different brain mechanisms. Yet brain reconfigurations at different spatial scales are seldom explored and whether they are associated with the neural aspects of brain disorders is far from understood. In this study, we introduced a dynamic measure called step-wise functional network reconfiguration (sFNR) to characterize how brain configuration rewires at different spatial scales. We applied sFNR to two independent datasets, one includes 160 healthy controls (HCs) and 151 patients with schizophrenia (SZ) and the other one includes 314 HCs and 255 individuals with autism spectrum disorder (ASD). We found that both SZ and ASD have increased whole-brain sFNR and sFNR between cerebellar and subcortical/sensorimotor domains. At the ICN level, the abnormalities in SZ are mainly located in ICNs within subcortical, sensory, and cerebellar domains, while the abnormalities in ASD are more widespread across domains. Interestingly, the overlap SZ-ASD abnormality in sFNR between cerebellar and sensorimotor domains was correlated with the reasoning-problem-solving performance in SZ (r = -.1652, p = .0058) as well as the Autism Diagnostic Observation Schedule in ASD (r = .1853, p = .0077). Our findings suggest that dynamic reconfiguration deficits may represent a key intersecting point for SZ and ASD. The investigation of brain dynamics at different spatial scales can provide comprehensive insights into the functional reconfiguration, which might advance our knowledge of cognitive decline and other pathophysiology in brain disorders.

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6. Liu J, Wang Z, Xu K, Ji B, Zhang G, Wang Y, Deng J, Xu Q, Xu X, Liu H. Early Screening of Autism in Toddlers via Response-To-Instructions Protocol. IEEE Trans Cybern ;2020 (Sep 23) ;Pp

Early screening of autism spectrum disorder (ASD) is crucial since early intervention evidently confirms significant improvement of functional social behavior in toddlers. This article attempts to bootstrap the response-to-instructions (RTIs) protocol with vision-based solutions in order to assist professional clinicians with an automatic autism diagnosis. The correlation between detected objects and toddler’s emotional features, such as gaze, is constructed to analyze their autistic symptoms. Twenty toddlers between 16-32 months of age, 15 of whom diagnosed with ASD, participated in this study. The RTI method is validated against human codings, and group differences between ASD and typically developing (TD) toddlers are analyzed. The results suggest that the agreement between clinical diagnosis and the RTI method achieves 95% for all 20 subjects, which indicates vision-based solutions are highly feasible for automatic autistic diagnosis.

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7. Lin YN, Iao LS, Lee YH, Wu CC. Parenting Stress and Child Behavior Problems in Young Children with Autism Spectrum Disorder : Transactional Relations Across Time. J Autism Dev Disord ;2020 (Sep 23)

This longitudinal study examined the transactional relations between parenting stress and both internalizing and externalizing behavioral problems in young children with autism spectrum disorder (ASD) over 1.5 years using a cross-lagged panel analysis. Participants included 75 young children with ASD (Time 1 ; mean age = 25.68 months) and their parents. Parenting stress that was related to parent’s perceptions on child characteristics was found to predict externalizing behavioral problems in young children with ASD across two time points. However, behavioral problems in young children with ASD did not predict parenting stress. These findings provide implications for early intervention and family services for young children with ASD and their families.

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8. Abdel-Maksoud M, Aly El-Gabry D, Al Kayoumi T, Alketbi J, Mohamednour D, Elhassan Elamin M, Subhash Reddy M, Al Yafei ZA, Stip E, Abdel Aziz K, Arnone D. Measures of gluten-related reactivity in children with autism spectrum disorders in the absence of overt gastrointestinal symptoms : a pilot study from the United Arab Emirates. J Int Med Res ;2020 (Sep) ;48(9):300060520952655.

OBJECTIVES : The aetiology of autism spectrum disorder (ASD) is multifactorial, sometimes genetic, and may be associated with abnormal immunological responses to peptides from proteins such as gluten. These peptides may cross the blood-brain barrier and affect neurotransmission, resulting in behavioural symptoms consistent with ASD. The aim of this study was to screen for markers of gluten-related immune reactivity in the absence of overt gastrointestinal symptoms in patients with ASD in the United Arab Emirates, a country associated with a high prevalence of ASD but lacking this type of research. METHODS : Patients diagnosed with ASD (using Diagnostic and Statistical Manual of Mental Disorders-IV-based criteria and Autism Diagnostic Observational Schedules) were compared with controls, regarding anti-tissue transglutaminase (tTG) immunoglobulin (Ig) A and anti-deamidated gliadin peptide (DGP) IgA levels. RESULTS : Sixty-six patients with ASD and 101 controls were included. Patients with ASD showed statistically significant lower anti-DGP IgA levels, but no significant difference in anti-tTG IgA levels, versus healthy controls. Correlations between immunological data and clinical symptoms were synergistic, but not statistically significant. CONCLUSION : ASD may be associated with reduced levels of anti-DGP IgA.

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9. Charlot LR, Doerfler LA, McLaren JL. Psychotropic medications use and side effects of individuals with intellectual and developmental disabilities. J Intellect Disabil Res ;2020 (Sep 21)

BACKGROUND : Many people with intellectual and developmental disabilities (IDD) are treated with psychotropic medications, and polypharmacy is common. Although few studies address psychotropic side effects in the population, people with IDD have been found more likely to experience side effects than others who do not have IDD. Because many individuals with IDD may not report side effects reliably, there is risk that side effects may be missed. METHODS : Psychotropic use and side effects of 71 adults with IDD admitted for a 30-day crisis stay to a Systemic, Therapeutic, Assessment, Resources, and Treatment (START) Resource Center were reviewed. START is a specialised behavioural health outreach, training and crisis programme for individuals with IDD. During crisis stays, centre nurses administer the Matson Evaluation of Drug Side Effects screen, a psychometrically established psychotropic medication side effects screen developed for use with people with IDD. Data reviewed were de-identified data used to inform day-to-day practices and assess outcomes for individuals START served. RESULTS : The average age was 28 years, and 56% of the sample was male. All individuals were taking at least one psychotropic, while 79% were taking three or more. The average number of psychotropics used was 3.94. Antipsychotics were the most commonly prescribed medications taken by 85% of the sample ; 49% of whom were not reported to have psychosis. Although the overall number of psychotropics did not correlate with Matson Evaluation of Drug Side Effects scores, the average scale scores for all participants was high in contrast to prior studies of people with IDD not taking psychotropics, with central nervous system side effects being the most commonly reported. CONCLUSION : In the present study, data for individuals experiencing a crisis were reviewed and indicated high rates of psychotropic polypharmacy and side effects rates higher than previously reported for people with IDD not taking psychotropics. Prospective study in larger samples is needed to determine if missed or under-appreciated psychotropic side effects may play a role in behavioural health challenges of some people with IDD.

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10. Eley SEA, McKechanie AG, Campbell S, Stanfield AC. Facilitating individuals and families affected by fragile X syndrome to participate in medication trials. J Intellect Disabil Res ;2020 (Sep 21)

BACKGROUND : Recently, there has been an increasing number of trials of medications for fragile X syndrome (FXS). In order to be adequately powered, trials have involved many centres around the world with relatively small numbers of participants recruited at each site. This study aims to understand the barriers to, and how best to facilitate participation in, medication trials in order to improve recruitment and the experience of participants with FXS. METHODS : A mixed methods design was used to collect both quantitative and qualitative data. Participants were invited to participate through the UK Fragile X Society, a local mailing list and through social media. Those who agreed to participate completed a quantitative questionnaire and indicated whether they would be willing to participate in a follow-up focus group. RESULTS : The questionnaire was completed by 328 individuals who either had FXS, or were a parent, carer or family member of an individual with FXS. Over two-thirds of participants reported concern about side effects, while over one-third mentioned swallowing tablets, blood tests, financial aspects and travel as barriers to participation. Focus groups with 12 individuals highlighted themes of trial challenges, strategies to overcome these and motivating factors to participate. CONCLUSIONS : Many of the factors, which potentially negatively influence participation in a clinical trial for FXS, could be mitigated in relatively simple ways. Easily accessible information, particularly about safety issues, the research team and the trial environment should be standard practice. Desensitisation programmes for blood testing, provision of different preparations of medication (e.g. liquid) and use of a combination of local, remote and site visits to reduce travel and time should also be considered.

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11. Ponton JA, Smyth K, Soumbasis E, Llanos SA, Lewis M, Meerholz WA, Tanguay RL. A pediatric patient with autism spectrum disorder and epilepsy using cannabinoid extracts as complementary therapy : a case report. J Med Case Rep ;2020 (Sep 22) ;14(1):162.

BACKGROUND : The pharmacological treatment for autism spectrum disorders is often poorly tolerated and has traditionally targeted associated conditions, with limited benefit for the core social deficits. We describe the novel use of a cannabidiol-based extract that incidentally improved core social deficits and overall functioning in a patient with autism spectrum disorder, at a lower dose than has been previously reported in autism spectrum disorder. CASE PRESENTATION : The parents of a 15-year-old boy, of South African descent, with autism spectrum disorder, selective mutism, anxiety, and controlled epilepsy, consulted a medical cannabis physician to trial cannabis extract to replace seizure medications. Incidentally, at a very low cannabidiol-based extract dose, he experienced unanticipated positive effects on behavioral symptoms and core social deficits. CONCLUSION : This case report provides evidence that a lower than previously reported dose of a phytocannabinoid in the form of a cannabidiol-based extract may be capable of aiding in autism spectrum disorder-related behavioral symptoms, core social communication abilities, and comorbid anxiety, sleep difficulties, and weight control. Further research is needed to elucidate the clinical role and underlying biological mechanisms of action of cannabidiol-based extract in patients with autism spectrum disorder.

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

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

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13. Persson M, Opdahl S, Risnes K, Gross R, Kajantie E, Reichenberg A, Gissler M, Sandin S. Gestational age and the risk of autism spectrum disorder in Sweden, Finland, and Norway : A cohort study. PLoS Med ;2020 (Sep) ;17(9):e1003207.

INTRODUCTION : The complex etiology of autism spectrum disorder (ASD) is still unresolved. Preterm birth (<37 weeks of gestation) and its complications are the leading cause of death of babies in the world, and those who survive often have long-term health problems. Length of gestation, including preterm birth, has been linked to ASD risk, but robust estimates for the whole range of gestational ages (GAs) are lacking. The primary objective of this study was to provide a detailed and robust description of ASD risk across the entire range of GAs while adjusting for sex and size for GA. METHODS AND FINDINGS : Our study had a multinational cohort design, using population-based data from medical registries in three Nordic countries : Sweden, Finland, and Norway. GA was estimated in whole weeks based on ultrasound. Children were prospectively followed from birth for clinical diagnosis of ASD. Relative risk (RR) of ASD was estimated using log-binomial regression. Analyses were also stratified by sex and by size for GA. The study included 3,526,174 singletons born 1995 to 2015, including 50,816 (1.44%) individuals with ASD. In the whole cohort, 165,845 (4.7%) were born preterm. RR of ASD increased by GA, from 40 to 24 weeks and from 40 to 44 weeks of gestation. The RR of ASD in children born in weeks 22-31, 32-36, and 43-44 compared to weeks 37-42 were estimated at 2.31 (95% confidence interval [CI] 2.15-2.48 ; 1.67% vs 0.83% ; p-value < 0.001), 1.35 (95% CI 1.30-1.40 ; 1.08% vs 0.83% ; p-value < 0.001), and 1.37 (95% CI 1.21-1.54 ; 1.74% vs 0.83% ; p-value < 0.001), respectively. The main limitation of this study is the lack of data on potential causes of pre- or postterm birth. Also, the possibility of residual confounding should be considered. CONCLUSION : In the current study, we observed that the RR of ASD increased weekly as the date of delivery diverged from 40 weeks, both pre- and postterm, independently of sex and size for GA. Given the unknown etiology of ASD and the lifelong consequences of the disorder, identifying groups of increased risk associated with a potentially modifiable risk factor is important.

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14. Panesar HK, Kennedy CL, Keil Stietz KP, Lein PJ. Polychlorinated Biphenyls (PCBs) : Risk Factors for Autism Spectrum Disorder ?. Toxics ;2020 (Sep 17) ;8(3)

Autism spectrum disorder (ASD) includes a group of multifactorial neurodevelopmental disorders defined clinically by core deficits in social reciprocity and communication, restrictive interests and repetitive behaviors. ASD affects one in 54 children in the United States, one in 89 children in Europe, and one in 277 children in Asia, with an estimated worldwide prevalence of 1-2%. While there is increasing consensus that ASD results from complex gene x environment interactions, the identity of specific environmental risk factors and the mechanisms by which environmental and genetic factors interact to determine individual risk remain critical gaps in our understanding of ASD etiology. Polychlorinated biphenyls (PCBs) are ubiquitous environmental contaminants that have been linked to altered neurodevelopment in humans. Preclinical studies demonstrate that PCBs modulate signaling pathways implicated in ASD and phenocopy the effects of ASD risk genes on critical morphometric determinants of neuronal connectivity, such as dendritic arborization. Here, we review human and experimental evidence identifying PCBs as potential risk factors for ASD and discuss the potential for PCBs to influence not only core symptoms of ASD, but also comorbidities commonly associated with ASD, via effects on the central and peripheral nervous systems, and/or peripheral target tissues, using bladder dysfunction as an example. We also discuss critical data gaps in the literature implicating PCBs as ASD risk factors. Unlike genetic factors, which are currently irreversible, environmental factors are modifiable risks. Therefore, data confirming PCBs as risk factors for ASD may suggest rational approaches for the primary prevention of ASD in genetically susceptible individuals.

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15. Qin Y, Kang J, Jiao Z, Wang Y, Wang J, Wang H, Feng J, Jin L, Wang F, Gong X. Polygenic risk for autism spectrum disorder affects left amygdala activity and negative emotion in schizophrenia. Transl Psychiatry ;2020 (Sep 21) ;10(1):322.

Although the diagnoses based on phenomenology have many practical advantages, accumulating evidence shows that schizophrenia and autism spectrum disorder (ASD) share some overlap in genetics and clinical presentation. It remains largely unknown how ASD-associated polygenetic risk contributes to the pathogenesis of schizophrenia. In the present study, we calculated high-resolution ASD polygenic risk scores (ASD PRSs) and selected optimal ten ASD PRS with minimal P values in the association analysis of PRSs, with schizophrenia to assess the effect of ASD PRS on brain neural activity in schizophrenia cases and controls. We found that amplitude of low-frequency fluctuation in left amygdala was positively associated with ASD PRSs in our cohort. Correlation analysis of ASD PRSs with facial emotion recognition test identified the negative correlation of ASD PRSs with negative emotions in schizophrenia cases and controls. Finally, functional enrichment analysis of PRS genes revealed that neural system function and development, as well as signal transduction, were mainly enriched in PRS genes. Our results provide empirical evidence that polygenic risk for ASD contributes to schizophrenia by the intermediate phenotypes of left amygdala function and emotion recognition. It provides a promising strategy to understand the relationship between phenotypes and genotypes shared in mental disorders.

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