1. Cauvet E, Van’t Westeinde A, Toro R, Kuja-Halkola R, Neufeld J, Mevel K, Bolte S. {{The Social Brain in Female Autism: A Structural Imaging Study of Twins}}. {Soc Cogn Affect Neurosci}. 2020.
A female advantage in social cognition (SoC) might contribute to women’s underrepresentation in autism (ASD). The latter could be underpinned by sex differences in social brain structure. This study investigated the relationship between structural social brain networks and social cognition in females and males in relation to ASD and autistic traits in twins. We used a co-twin design, in 77 twin pairs (39 female) aged 12.5 to 31.0 years. Twin pairs were discordant or concordant for ASD or autistic traits, discordant or concordant for other neurodevelopmental disorders, or concordant for neurotypical development. They underwent structural magnetic resonance imaging and were assessed for SoC using the naturalistic Movie for the Assessment of Social Cognition (MASC). Autistic traits predicted reduced SoC capacities predominantly in male twins, despite a comparable extent of autistic traits in each sex, although the association between SoC and autistic traits did not differ significantly between the sexes. Consistently, within-pair associations between SoC and social brain structure revealed that lower SoC ability was associated with increased cortical thickness of several brain regions, particularly in males. Our findings confirm the notion that sex differences in social cognition in association with ASD are underpinned by sex differences in brain structure.
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2. Del Valle Rubido M, Hollander E, McCracken JT, Shic F, Noeldeke J, Boak L, Khwaja O, Sadikhov S, Fontoura P, Umbricht D. {{Correction to: Exploring Social Biomarkers in HighFunctioning Adults with Autism and Asperger’s Versus Healthy Controls: A CrossSectional Analysis}}. {J Autism Dev Disord}. 2020.
The original version of this article unfortunately contained a mistake in CI values in Table 2.
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3. Dr Sener DK, Dr Karaca A. {{The use of complementary and alternative medicine treatments by mothers of children with developmental disabilities}}. {Nursing & health sciences}. 2020.
This study aims to determine the rates of complementary and alternative medicine methods used by mothers of children with developmental disabilities, reasons for using methods and comparison of methods according to diagnosis groups. The cohort in this cross-sectional and correlational study consisted of the mothers of 390 students with developmental disabilities. 77.2% of the mothers reported using at least one complementary and alternative medicine treatment. The highest level of use was found in the groups of mothers of children with cerebral palsy (100%) and autism spectrum disorder (88.5%), respectively. The most commonly used treatments were biological therapies consisting of special diets and multivitamins, manipulative and body-based methods including massage and exercise, and mind-body interventions such as prayer, wearing amulets and seeking help from a Muslim preacher (hodja). However, mothers never used alternative medicine treatments such as homeopathy, acupuncture, or Ayurveda, nor did they use energy-based healing techniques such as reiki, tai chi, yoga, kinesiology, or neurofeedback exercises. Healthcare professionals, especially nurses as health care team members, should be knowledgeable and careful about the benefits, side effects, administration methods, and contraindications of complementary and alternative medicine treatments. This article is protected by copyright. All rights reserved.
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4. Edelson SM, Nicholas DB, Stoddart KP, Bauman MB, Mawlam L, Lawson WB, Jose C, Morris R, Wright SD. {{Strategies for Research, Practice, and Policy for Autism in Later Life: A Report from a Think Tank on Aging and Autism}}. {J Autism Dev Disord}. 2020.
Over the past decade, there has been a growing interest in adults on the autistic spectrum, and more recently, the challenges related to aging in this population. A two-day Think Tank meeting, focused on aging in autism, was convened amongst international leaders in the field of autism research and practice. This meeting included a series of presentations addressing the current status of aging research, followed by discussions regarding priorities going forward. Attendees shared their thoughts and concerns regarding community services, government policies, societal perspectives and physical and mental health. The goal of these discussions was to consider systematic approaches aimed at providing meaningful supports that can ensure a quality of life for seniors on the autism spectrum.
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5. Fagiolini M, Patrizi A, LeBlanc J, Jin LW, Maezawa I, Sinnett S, Gray SJ, Molholm S, Foxe JJ, Johnston MV, Naidu S, Blue M, Hossain A, Kadam S, Zhao X, Chang Q, Zhou Z, Zoghbi H. {{Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders}}. {Neuroscience}. 2020.
Disruptions in the gene encoding methyl-CpG binding protein 2 (MECP2) underlie complex neurodevelopmental disorders including Rett Syndrome (RTT), MECP2 duplication disorder, intellectual disabilities, and autism. Significant progress has been made on the molecular and cellular basis of MECP2-related disorders providing a new framework for understanding how altered epigenetic landscape can derail the formation and refinement of neuronal circuits in early postnatal life and proper neurological function. This review will summarize selected major findings from the past years and particularly highlight the integrated and multidisciplinary work done at eight NIH-funded Intellectual and Developmental Disabilities Research Centers (IDDRC) across the US. Finally, we will outline a path forward with identification of reliable biomarkers and outcome measures, longitudinal preclinical and clinical studies, reproducibility of results across centers as a synergistic effort to decode and treat the pathogenesis of the complex MeCP2 disorders.
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6. Hampton LH, Kaiser AP, Nietfeld JP, Khachoyan A. {{Generalized Effects of Naturalistic Social Communication Intervention for Minimally Verbal Children with Autism}}. {J Autism Dev Disord}. 2020.
JASP-EMT, the combined Enhanced Milieu Teaching (EMT) and Joint Attention, Structured Play, and Emotion Regulation (JASPER) interventions, has been found to be effective for promoting social communication in young children with autism (Kasari et al. in J Am Acad Child Adolesc Psychiatry 53(6):635-646, https://doi.org/10.1016/j.jaac.2014.01.019, 2014). The current study examined the effects of this naturalistic intervention on social language use in three children with autism who were in the early stages of language acquisition. Generalization to communication partners who did not utilize the intervention strategies was systematically examined using a multiple-baseline design. The results from this study indicate that this blended intervention is effective in increasing target social language for young children with autism, however, generalization to communication partners does not readily occur. Implications for practice and future research are discussed.
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7. Lenart J, Bratek E, Lazarewicz JW, Zieminska E. {{Changes in the Expression of SNAP-25 Protein in the Brain of Juvenile Rats in Two Models of Autism}}. {Journal of molecular neuroscience : MN}. 2020.
The results of genetic studies suggest a possible role for SNAP-25 polymorphism in the development of autism spectrum disorders (ASDs); however, there are no data available on whether changes in SNAP-25 expression also affect animals in rodent models of ASD. The aim of the present study was to explore this issue. The studies included 1-month-old rats representing valproic acid (VPA)- and thalidomide (THAL)-induced models of autism. Their mothers received single doses of VPA (800 mg/kg) or THAL (500 mg/kg) per os on the 11th day of gestation. SNAP-25 protein content in the cerebellum, hippocampus, and frontal lobe was determined using Western blotting, while changes of mRNA levels of Snap25 gene were determined using real-time polymerase chain reaction. Compared to controls, SNAP-25 content was decreased by approximately 35% in all brain structures tested, in both males and females, exclusively in the VPA group. In contrast to this, Snap25 expression, studied in males, was increased in the hippocampus and cerebellum in both, VPA- and THAL-treated rats. We discuss the compliance of these results with the hypothesized role of SNAP-25 in the pathophysiology of ASD and the adequacy of the experimental models used.
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8. Myers SM, Challman TD, Bernier R, Bourgeron T, Chung WK, Constantino JN, Eichler EE, Jacquemont S, Miller DT, Mitchell KJ, Zoghbi HY, Martin CL, Ledbetter DH. {{Insufficient Evidence for « Autism-Specific » Genes}}. {Am J Hum Genet}. 2020; 106(5): 587-95.
Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review the findings and limitations of recent efforts to identify relatively « autism-specific » genes, efforts which focus on rare variants of large effect size that are thought to account for the observed phenotypes. We present a divergent interpretation of published evidence; discuss practical and theoretical issues related to studying the relationships between rare, large-effect deleterious variants and neurodevelopmental phenotypes; and describe potential future directions of this research. We argue that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data.
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9. Razak KA, Dominick KC, Erickson CA. {{Developmental studies in fragile X syndrome}}. {J Neurodev Disord}. 2020; 12(1): 13.
Fragile X syndrome (FXS) is the most common single gene cause of autism and intellectual disabilities. Humans with FXS exhibit increased anxiety, sensory hypersensitivity, seizures, repetitive behaviors, cognitive inflexibility, and social behavioral impairments. The main purpose of this review is to summarize developmental studies of FXS in humans and in the mouse model, the Fmr1 knockout mouse. The literature presents considerable evidence that a number of early developmental deficits can be identified and that these early deficits chart a course of altered developmental experience leading to symptoms well characterized in adolescents and adults. Nevertheless, a number of critical issues remain unclear or untested regarding the development of symptomology and underlying mechanisms. First, what is the role of FMRP, the protein product of Fmr1 gene, during different developmental ages? Does the absence of FMRP during early development lead to irreversible changes, or could reintroduction of FMRP or therapeutics aimed at FMRP-interacting proteins/pathways hold promise when provided in adults? These questions have implications for clinical trial designs in terms of optimal treatment windows, but few studies have systematically addressed these issues in preclinical and clinical work. Published studies also point to complex trajectories of symptom development, leading to the conclusion that single developmental time point studies are unlikely to disambiguate effects of genetic mutation from effects of altered developmental experience and compensatory plasticity. We conclude by suggesting a number of experiments needed to address these major gaps in the field.
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10. Solmi F, Bentivegna F, Bould H, Mandy W, Kothari R, Rai D, Skuse D, Lewis G. {{Trajectories of autistic social traits in childhood and adolescence and disordered eating behaviours at age 14 years: A UK general population cohort study}}. {J Child Psychol Psychiatry}. 2020.
BACKGROUND: Some people with eating disorders have difficulties with social communication. However, no longitudinal evidence regarding the direction of this association exists. We investigated trajectories of autistic social traits across childhood and adolescence in adolescents with and without disordered eating behaviours in early adolescence. METHODS: We used data from the Avon Longitudinal Study of Parents and Children. Our disordered eating measure indicated presence of any, monthly and weekly disordered eating (fasting, purging, dieting, binge eating) at age 14 years. Autistic social traits were reported by mothers using the Social and Communication Disorders Checklist (SCDC) at age seven, 11, 14 and 16 years. We modelled SCDC score trajectories using multilevel negative binomial models adjusting for a number of child- and maternal-level confounders. RESULTS: Of the 5,381 adolescents included in our sample, 421 (7.8%) experienced one or more disordered eating behaviours, and 148 (2.8%) weekly episodes. Adolescents with disordered eating had a 20% increase in SCDC scores (relative risk (RR) 1.23, 95% confidence interval (CI):1.14, 1.32) compared to those without disordered eating. This association was particularly apparent for those reporting weekly (RR 1.43, 95%CI: 1.27, 1.61) as opposed to monthly disordered eating (RR 1.12, 95%CI: 1.01, 1.22). CONCLUSIONS: Greater autistic social traits in childhood could represent a risk factor for the development of disordered eating in adolescence. Although mechanisms of this association need to be elucidated, clinicians should be aware that autistic social traits could have predated the eating disorder when managing people with these conditions.
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11. Tsai TY, Chao YC, Hsieh CY, Huang YC. {{Association Between Atopic Dermatitis and Risk of Autism Spectrum Disorder: A Systematic Review and Meta-analysis}}. {Acta dermato-venereologica}. 2020.
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12. Wagner L, Frisch M, Turner-Brown L, Andrews S, Edwards A, Moultrie R, Alvarez Rivas A, Wheeler A, Raspa M. {{Preferences for the research use of electronic health records among young adults with fragile X syndrome or autism spectrum disorder}}. {Disability and health journal}. 2020: 100927.
BACKGROUND: Health researchers are increasingly using electronic health records (EHRs) to study the health care needs of people with neurodevelopmental disorders (NDDs). However, little is known about the preferences of people with NDDs for sharing EHRs for research. OBJECTIVE: To explore preferences for sharing EHRs for research among young adults ages 18-40 who make their own legal decisions and who have autism spectrum disorder (ASD), fragile X syndrome (FXS), or no NDDs. METHODS: We conducted a qualitative study with seven focus groups: 2 ASD groups, 3 FXS groups, and 2 no-NDD groups. We asked participants about factors that could affect their willingness to share their EHRs for research: type of organization, type of information, study purpose, duration, contact frequency, return of results, benefits, and risks. We analyzed the qualitative data using directed content analysis. RESULTS: Participants with NDDs valued personally relevant and directly beneficial EHR research. Participants with NDDs expressed willingness to share sensitive data if the study was personally relevant. Most participants wanted to receive results, but only participants with FXS indicated it would affect their willingness to participate. Participants were concerned about privacy risks, discrimination, researcher misconduct, and financial conflicts of interest. CONCLUSION: This study provides initial evidence suggesting that young adults with NDDs prefer EHR research that is personally relevant, benefits themselves and their communities, and is conducted in the context of trusting, reciprocal participant-researcher relationships. The findings point to the need for researchers to improve the informed consent process and to better engage individuals with NDDs in research.
