Pubmed du 05/08/20

mercredi 5 août 2020

1. Aman MG, Norris M, Kaat AJ, Andrews H, Choo TH, Chen C, Wheeler A, Bann C, Erickson C. Factor Structure of the Aberrant Behavior Checklist in Individuals with Fragile X Syndrome : Clarifications and Future Guidance. J Child Adolesc Psychopharmacol ;2020 (Aug 3)

Objective : The Aberrant Behavior Checklist (ABC) is a standardized rating scale used for assessing problematic behavior of individuals with developmental disabilities. It has five subscales : Irritability, Social Withdrawal, Stereotypic Behavior, Hyperactivity, and Inappropriate Speech. A previous study in individuals with fragile X syndrome (FXS) reported six factors, with the Social Withdrawal factor bifurcating into Socially Unresponsive and Social Avoidance factors, suggesting a different factor structure in people with FXS. Methods : We assessed the ABC’s factor structure (with both exploratory and confirmatory analyses) in 797 people with FXS and we compared these findings with exploratory factors derived from an independent sample of 357 individuals with FXS. In an ancillary analysis, we compared the overlap of the traditional ABC’s Social Withdrawal scores with the Social Avoidance scores from the FXS-derived newer scale to determine whether overlap between these was very high and essentially redundant. Finally, we computed norms using both the traditional and the FXS-specific algorithms. Results : In confirmatory factor analyses, the FXS-specific algorithm produced the most consistent factor structure for the sample of 797 participants, but model fit was only marginally better than that derived by the original ABC scoring algorithm. Comparisons of factor structures from separate exploratory analyses revealed no consistent advantage of the FXS algorithm over the traditional algorithm. While a Social Avoidance subscale did emerge in some analyses, in other analyses, this was accompanied by loss of coherence on other domains of interest, such as the Socially Unresponsive/Social Withdrawal subscale. Conclusion : We question whether the newer FXS scoring algorithm contributes data that are consistently helpful in evaluating behavior of people with FXS. In general, we recommend continued use of the original ABC algorithm for scoring behavior of clients with FXS. However, we acknowledge that there may be circumscribed times when the new algorithm may be appropriate for scoring, namely when anxiety and/or social avoidance constructs are the central and unequivocal domains of interest.

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2. Barsotti J, Mangani G, Nencioli R, Pfanner L, Tancredi R, Cosenza A, Sesso G, Narzisi A, Muratori F, Cipriani P, Chilosi AM. Grammatical Comprehension in Italian Children with Autism Spectrum Disorder. Brain Sci ;2020 (Aug 2) ;10(8)

Language deficits represent one of the most relevant factors that determine the clinical phenotype of children with autism spectrum disorder (ASD). The main aim of the research was to study the grammatical comprehension of children with ASD. A sample of 70 well-diagnosed children (60 boys and 10 girls ; aged 4.9-8 years) were prospectively recruited. The results showed that language comprehension is the most impaired language domain in ASD. These findings have important clinical implications, since the persistence of grammatical receptive deficits may have a negative impact on social, adaptive and learning achievements. As for the grammatical profiles, persistent difficulties were found during the school-age years in morphological and syntactic decoding in children with relatively preserved cognitive and expressive language skills. These data and the lack of a statistically significant correlation between the severity of ASD symptoms and language skills are in line with the DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition) perspective that considers the socio-communication disorder as a nuclear feature of ASD and the language disorder as a specifier of the diagnosis and not as a secondary symptom anymore. The presence of receptive difficulties in school-age ASD children with relatively preserved non-verbal cognitive abilities provides important hints to establish rehabilitative treatments.

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3. Bishop L, McLean KJ, Rubenstein E. Epilepsy in adulthood : Prevalence, incidence, and associated antiepileptic drug use in autistic adults in a state Medicaid system. Autism ;2020 (Aug 5):1362361320942982.

Epilepsy is more common in autistic children compared to children without autism, but we do not have good estimates of how many autistic adults have epilepsy. We used data from a full population of 7513 autistic adults who received Medicaid in Wisconsin to figure out the proportion of autistic adults who have epilepsy, as compared to 18,429 adults with intellectual disability. We also wanted to assess how often epilepsy is first diagnosed in adulthood. Finally, we wanted to see whether antiepileptic drugs are being used to treat epilepsy in autistic adults. We found that 34.6% of autistic adults with intellectual disability and 11.1% of autistic adults without intellectual disability had epilepsy, compared to 27.0% of adults with intellectual disability alone. Autistic women and autistic adults with intellectual disability were more likely than autistic men and autistic adults without intellectual disability to have both previous and new diagnoses of epilepsy. Finally, we found that antiepileptic medications are commonly prescribed to autistic people who do not have epilepsy potentially to treat mental health conditions or behavior problems, and that antiepileptic medications are not always prescribed to autistic people with epilepsy even though they are indicated as a first-line epilepsy treatment. The findings of this study highlight the need to effectively treat and prevent epilepsy in autistic adults.

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4. Chatterjee M, Singh P, Xu J, Lombroso PJ, Kurup PK. Inhibition of striatal-enriched protein tyrosine phosphatase (STEP) activity reverses behavioral deficits in a rodent model of autism. Behav Brain Res ;2020 (Aug 5) ;391:112713.

Autism spectrum disorders (ASDs) are highly prevalent childhood illnesses characterized by impairments in communication, social behavior, and repetitive behaviors. Studies have found aberrant synaptic plasticity and neuronal connectivity during the early stages of brain development and have suggested that these contribute to an increased risk for ASD. STEP is a protein tyrosine phosphatase that regulates synaptic plasticity and is implicated in several cognitive disorders. Here we test the hypothesis that STEP may contribute to some of the aberrant behaviors present in the VPA-induced mouse model of ASD. In utero VPA exposure of pregnant dams results in autistic-like behavior in the pups, which is associated with a significant increase in the STEP expression in the prefrontal cortex. The elevated STEP protein levels are correlated with increased dephosphorylation of STEP substrates GluN2B, Pyk2 and ERK, suggesting upregulated STEP activity. Moreover, pharmacological inhibition of STEP rescues the sociability, repetitive and abnormal anxiety phenotypes commonly associated with ASD. These data suggest that STEP may play a role in the VPA model of ASD and STEP inhibition may have a potential therapeutic benefit in this model.

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5. Dong Q, Kim J, Nguyen L, Bu Q, Chang Q. An Astrocytic Influence on Impaired Tonic Inhibition in Hippocampal CA1 Pyramidal Neurons in a Mouse Model of Rett Syndrome. J Neurosci ;2020 (Aug 5) ;40(32):6250-6261.

Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. Although altered interneuron development and function are clearly demonstrated in RTT mice, a particular mode of inhibition, tonic inhibition, has not been carefully examined. We report here that tonic inhibition is significantly reduced in pyramidal neurons in the CA1 region of the hippocampus in mice where Mecp2 is deleted either in all cells or specifically in astrocytes. Since no change is detected in the level of GABA receptors, such a reduction in tonic inhibition is likely a result of decreased ambient GABA level in the extracellular space. Consistent with this explanation, we observed increased expression of a GABA transporter, GABA transporter 3 (GAT3), in the hippocampus of the Mecp2 KO mice, as well as a corresponding increase of GAT3 current in hippocampal astrocytes. These phenotypes are relevant to RTT because pharmacological blockage of GAT3 can normalize tonic inhibition and intrinsic excitability in CA1 pyramidal neurons, and rescue the phenotype of increased network excitability in acute hippocampal slices from the Mecp2 KO mice. Finally, chronic administration of a GAT3 antagonist improved a composite symptom score and extended lifespan in the Mecp2 KO mice. Only male mice were used in this study. These results not only advance our understanding of RTT etiology by defining a new neuronal phenotype and revealing how it can be influenced by astrocytic alterations, but also reveal potential targets for intervention.SIGNIFICANCE STATEMENT Our study reports a novel phenotype of reduced tonic inhibition in hippocampal CA1 pyramidal neurons in the Rett syndrome mice, reveal a potential mechanism of increased GABA transporter expression/activity in the neighboring astrocytes, describe a disease-relevant consequence in hyperexcitability, and provide preliminary evidence that targeting this phenotype may slow down disease progression in Rett syndrome mice. These results help our understanding of the disease etiology and identify a new therapeutic target for treating Rett syndrome.

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6. Dutheil F, Bourdel N, Comptour A. The Coronavirus Might be Paradoxically Beneficial on the Risk of Autism. J Autism Dev Disord ;2020 (Aug 3):1-3.

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7. Grossi T, Nord D, Andresen J. Earning a Real Wage : A Statewide Investigation of Young Adults With Intellectual and Developmental Disabilities. Intellect Dev Disabil ;2020 (Aug 1) ;58(4):264-272.

Employment for individuals with intellectual and developmental disabilities (IDD) has gained increased attention through legislation, policies, advocacy, and practice. For transition-age youth, this focus aims to set a trajectory of increased competitive employment outcomes and a lower reliance on facility-based and subminimum wage jobs. Using a statewide survey of day and employment service users, this study sought to understand how earnings of young adults fared compared to other age groups. Key findings highlighted differences across age groups, including that young adults had significantly better odds of earning higher wages. The implications for public policy and service systems in regard to the supports that young adults need in order to embark on a positive trajectory in their work lives are discussed.

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8. Ho FC, Lam CS, Lo SK. Differences Between Students With Comorbid Intellectual Disability and Autism Spectrum Disorder and Those With Intellectual Disability Alone in the Recognition of and Reaction to Emotions. J Autism Dev Disord ;2020 (Aug 5)

This study investigates whether students with intellectual disability (ID) alone differ from students with combined individual disability and autism spectrum disorder (ASD) in their recognition of emotions. The ability to recognise emotions does not mean that students automatically know how to react to these emotions. Differences in performance on recognition and reaction tasks are examined. Participants were 20 primary 6 students who had ID with ASD and 20 primary 6 students who had ID without ASD from four special schools. The testing and training materials were adapted from a local teaching package. The results showed that both groups exhibited similar performance patterns in recognition tasks. Students with comorbid ASD exhibited inferior performance in tasks requiring reactions to complex emotions.

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9. Holbrook S, Israelsen M. Speech Prosody Interventions for Persons With Autism Spectrum Disorders : A Systematic Review. Am J Speech Lang Pathol ;2020 (Aug 5):1-17.

Purpose Persons with autism spectrum disorder (ASD) may demonstrate abnormal prosodic patterns in conversational speech, which can negatively affect social interactions. The purpose of this systematic review was to identify interventions measuring the improvement of expressive speech prosody in persons with ASD in order to support clinician’s evidence-based decision making. Method We used 13 electronic databases to search for relevant articles using terms related to autism, intervention, and speech prosody. The databases identified a total of nine articles for the title, abstract, and full-text reviews. Five more articles were included after performing descendant and reference searches. One peer-reviewed article was excluded due to insufficient data received from the authors. We coded the resulting 13 articles for report, setting, intervention, outcome, and results characteristics and methodological quality. Results Results showed that interventions specifically targeting speech prosody using established and emerging evidence-based practices across more than 1 treatment day resulted in moderate to large improvements in speech prosody in persons with ASD. Interventions that indirectly targeted prosody or were very short resulted in small or nonsignificant effects. Discussion The results of this literature review suggest that interventions that directly target speech prosody using established evidence-based practices for ASD may be most effective for increasing typical prosodic patterns during speech for persons with ASD. Further research is needed to establish which interventions are most effective for each age range and context. Supplemental Material

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10. Kersten ML, Coxon K, Lee H, Wilson NJ. Developing community mobility and driving with youth on the autism spectrum : A psychosocial perspective. Scand J Occup Ther ;2020 (Aug 5):1-6.

BACKGROUND : Youth on the autism spectrum face particular challenges with community mobility and driving, contributing to reduced community participation. Skill development may be uniquely shaped by complex interactions between autistic traits, psychosocial influences and community environments. Research to guide occupational therapy practice is sparse. OBJECTIVE : This short report explores the complex interplay between psychosocial and environmental influences on community mobility development, to stimulate further occupational therapy research and provide considerations for practice. METHOD : Because of the lack of autism specific research, we firstly discuss psychosocial and environmental influences impacting non-autistic youth, then draw on current research to identify challenges for youth on the spectrum. Finally, we propose considerations for practice and research. CONCLUSION : Psychosocial considerations for developing community mobility and driving include social communication, safety, navigating unpredictable community environments, emotional regulation and motivation for community participation. Future research should explore how to develop foundational community mobility skills ; communication and social skills ; and autistic needs for inclusive design. Supporting normative community mobility skills during adolescence may underpin transition to independence in adulthood. SIGNIFICANCE : Broadening the focus of community mobility and driving research to understand environmental and psychosocial contexts of community environments, is necessary to provide guidance for occupational therapists supporting youth on the spectrum with independent community participation.

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11. Matoba N, Liang D, Sun H, Aygün N, McAfee JC, Davis JE, Raffield LM, Qian H, Piven J, Li Y, Kosuri S, Won H, Stein JL. Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. Transl Psychiatry ;2020 (Aug 3) ;10(1):265.

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Large genetically informative cohorts of individuals with ASD have led to the identification of a limited number of common genome-wide significant (GWS) risk loci to date. However, many more common genetic variants are expected to contribute to ASD risk given the high heritability. Here, we performed a genome-wide association study (GWAS) on 6222 case-pseudocontrol pairs from the Simons Foundation Powering Autism Research for Knowledge (SPARK) dataset to identify additional common genetic risk factors and molecular mechanisms underlying risk for ASD. We identified one novel GWS locus from the SPARK GWAS and four significant loci, including an additional novel locus from meta-analysis with a previous GWAS. We replicated the previous observation of significant enrichment of ASD heritability within regulatory regions of the developing cortex, indicating that disruption of gene regulation during neurodevelopment is critical for ASD risk. We further employed a massively parallel reporter assay (MPRA) and identified a putative causal variant at the novel locus from SPARK GWAS with strong impacts on gene regulation (rs7001340). Expression quantitative trait loci data demonstrated an association between the risk allele and decreased expression of DDHD2 (DDHD domain containing 2) in both adult and prenatal brains. In conclusion, by integrating genetic association data with multi-omic gene regulatory annotations and experimental validation, we fine-mapped a causal risk variant and demonstrated that DDHD2 is a novel gene associated with ASD risk.

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12. Mordeno IG, Gallemit I, Ferolino MAL, Sinday JV. DSM-5-Based ASD Models : Assessing the Latent Structural Relations with Functionality in War-Exposed Individuals. Psychiatr Q ;2020 (Aug 3)

There is a dearth of studies investigating the latent structure of Acute Stress Disorder (ASD) following the changes in the fifth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-5). To date, there is no consensus on the best representation of ASD. This study addressed this gap by examining four latent ASD models in a sample of war-exposed individuals (N = 424). Investigation on the relationship of the best-fitting model to functionality in the latent level was also conducted. The five-factor model, composed of intrusion, avoidance, numbing, dysphoric arousal, and anxious arousal factors, yielded the best-fitting model. Latent associations between the factors of the model and functionality suggest that symptoms of functionality do not significantly affect the factor structure of ASD. These findings have implications for understanding the underlying mechanism of ASD and can inform the development of more nuanced trauma-related interventions, particularly addressing ASD symptoms and functionality separately.

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13. Murillo E, Camacho L, Montero I. Multimodal Communication in Children with Autism Spectrum Disorder and Different Linguistic Development. J Autism Dev Disord ;2020 (Aug 3)

This study focuses on the multimodal communication of children with autism spectrum disorders (ASD) compared to typically developing (TD) children. Eleven children with ASD (aged from 28 to 79 months) and 11 TD children (from 12 to 30 months) were matched by their productive vocabulary. We observed their communicative production in a semi-structured play situation. Results showed no differences in the combinations of gestural and vocal elements between children with ASD and TD. By contrast, regarding the production of the three-element multimodal combinations, we found a different pattern between ASD and TD children depending on their lexical development. These results provide clues to understand some controversial findings regarding multimodal production of people with ASD described in the literature.

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14. Pretzsch CM, Floris DL. Balancing excitation and inhibition in the autistic brain. Elife ;2020 (Aug 4) ;9

A metric called the Hurst exponent could be a useful biomarker for studies exploring brain differences between men and women with autism spectrum disorder.

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15. Reid KB, Sacrey LR, Zwaigenbaum L, Raza S, Brian J, Smith IM, Bryson S, Armstrong V, Roberts W, Szatmari P, Vaillancourt T, Roncadin C. The association between social emotional development and symptom presentation in autism spectrum disorder. Dev Psychopathol ;2020 (Aug 5):1-11.

Understanding differences in social-emotional behavior can help identify atypical development. This study examined the differences in social-emotional development in children at increased risk of an autism spectrum disorder (ASD) diagnosis (infant siblings of children diagnosed with the disorder). Parents completed the Brief Infant-Toddler Social-Emotional Assessment (BITSEA) to determine its ability to flag children with later-diagnosed ASD in a high-risk (HR) sibling population. Parents of HR (n = 311) and low-risk (LR ; no family history of ASD ; n = 127) children completed the BITSEA when their children were 18 months old and all children underwent a diagnostic assessment for ASD at age 3 years. All six subscales of the BITSEA (Problems, Competence, ASD Problems, ASD Competence, Total ASD Score, and Red Flags) distinguished between those in the HR group who were diagnosed with ASD (n = 84) compared to non-ASD-diagnosed children (both HR-N and LR). One subscale (BITSEA Competence) differentiated between the HR children not diagnosed with ASD and the LR group. The results suggest that tracking early social-emotional development may have implications for all HR children, as they are at increased risk of ASD but also other developmental or mental health conditions.

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16. Roux AM, Rast JE, Garfield T, Anderson KA, Shattuck PT. Prevalence and Correlates of Work Experiences Among High School Students on the Autism Spectrum. Intellect Dev Disabil ;2020 (Aug 1) ;58(4):273-287.

This study used nationally representative data to describe the prevalence and correlates of work experiences among high school students with autism who received special education. Four in tenstudents with autism experienced any type of work (community-based, school-sponsored, paid or unpaid) within a given year-significantly fewer than peers with and without disabilities. Rates of paid work among students with autism were comparable to students with intellectual disability (ID)but half the rate of non-special education peers. Among youth with autism, significant correlates of having work experiences included being white, parent participation in transition planning, and functional skills including navigation. Fostering a variety of early work experiences should be a key goal of disability employment policy at federal and state levels.

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17. Schall C, Sima AP, Avellone L, Wehman P, McDonough J, Brown A. The Effect of Business Internships Model and Employment on Enhancing the Independence of Young Adults With Significant Impact From Autism. Intellect Dev Disabil ;2020 (Aug 1) ;58(4):301-313.

This article presents findings from a multisite randomized clinical trial measuring the impact of employment on independence in 18 to 22 year old youth with significant impact from autism spectrum disorder (ASD). The treatment condition was Project SEARCH plus ASD Supports (PS+ASD) where 73.4% of participants gained competitive integrated employment (CIE) within 1 year of graduation compared to control participants who acquired CIE at 17%. Within group analysis revealed that PS+ASD participants demonstrated improvement in all domains whereas control group participants demonstrated improvement in one domain only. Between groups analysis indicated that participants in PS+ASD demonstrated nominally better rates of improvement than control group participants at graduation and 1-year follow-up. Results provide evidence that employment provides therapeutic benefits to individuals with ASD.

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18. Sourvinos S, Mavropoulos A, Kasselimis DS, Korasidi A, Voukouni AL, Papadopoulos P, Vlaseros S, Damianos G, Potagas C, Damianos D. Brief Report : Speech and Language Therapy in Children with ASD in an Aquatic Environment : the ASLT (Aquatic Speech and Language Therapy) Program. J Autism Dev Disord ;2020 (Aug 3)

Although water-based approaches have been shown to be beneficial for children with Autism Spectrum Disorder (ASD), no study thus far has directly investigated the effects of such intervention programs on language skills. The present study aims to evaluate the efficacy of the Aquatic Speech and Language Therapy (ASLT) program, which is a new, exclusively aquatic intervention program designed especially for children with ASD. The effects of ASLT were compared to the outcome of a similar classroom-based intervention, in two groups of children with ASD matched for age, gender, and expressive/receptive vocabulary. Our findings show that ASLT results in significantly greater improvement of vocabulary measures, thus providing direct evidence of water-based intervention’s beneficial effects on language skills in ASD.

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19. Spek AA. [Suicidality in people with autism without intellectual impairment]. Ned Tijdschr Geneeskd ;2020 (Jun 19) ;164

People with autism spectrum disorders (ASD) relatively often experience suicidality. This seems partly related to comorbid disorders such as depression, ADHD and addiction. In addition, people with ASD are relatively vulnerable due to limitations in social communication, for example for bullying behavior of others. This, too, plays a role in suicidality, as well as having a strong tendency to ruminate and difficulty regulating emotions. Particularly in women with ASD, we see increased suicidality ; possibly because they have more comorbid disorders, but also because of their tendency to camouflage and compensate. Social support and a sense of belonging do not protect people with ASD against suicidality. Practical help does seemtobe a protective factor. In clinical practice, health professionals should be aware of possible suicidality in people with ASD. Treatment of comorbidity and emotion regulation problems, as well as the practical guidance and the use of good anti-bullying programs can play an important role in this.

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20. Stewart GR, Corbett A, Ballard C, Creese B, Aarsland D, Hampshire A, Charlton RA, Happé F. The mental and physical health profiles of older adults who endorse elevated autistic traits. J Gerontol B Psychol Sci Soc Sci ;2020 (Aug 5)

OBJECTIVE : The mental and physical health profile of autistic people has been studied in adolescence and adulthood, with elevated rates of most conditions being reported. However, this has been little studied taking a dimensional approach to autistic traits, and in older age. METHODS : A total of 20,220 adults aged 50-81 years from the PROTECT study reported whether they experienced persistent socio-communicative traits characteristic of autism. Approximately 1%, 276 individuals, were identified as endorsing elevated autistic traits in childhood and currently, henceforth the ’Autism Spectrum Trait’ (AST) group. An age and gender matched comparison group was formed of 10,495 individuals who did not endorse any autistic behavioral traits, henceforth the ’Control Older Adults’ (COA) group. Differences between AST and COA groups were explored in self-reported psychiatric diagnoses, self-reported symptoms of current depression and anxiety, and self-reported physical health diagnoses. Associations were also examined between autistic traits and health across the whole sample. RESULTS : The AST group reported significantly elevated rates of psychiatric diagnoses compared to COAs. Additionally, the AST group showed significantly higher self-reported symptoms of current depression and anxiety than COAs. However, few differences were observed in individual physical health conditions, and no differences in total co-occurring physical diagnoses between groups. Similar associations between autistic traits and health were also found taking a dimensional approach across the whole sample. DISCUSSION : These findings suggest that older adults with elevated autistic traits may be at greater risk of poorer mental, but not physical, health in later life. Future studies should incorporate polygenic scores to elucidate the possible genetic links between propensity to autism/high autistic traits and to psychiatric conditions, and to explore whether those with elevated autistic traits experience particular barriers to mental health care.

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21. Thompson JR, Nygren MA. COVID-19 and the Field of Intellectual and Developmental Disabilities : Where Have We Been ? Where Are We ? Where Do We Go ?. Intellect Dev Disabil ;2020 (Aug 1) ;58(4):257-261.

The coronavirus (COVID-19) pandemic has affected, and will continue to affect, every aspect of the intellectual and developmental disabilities (IDD) community. We provide recommendations to (a) support people with IDD and the broader of field of IDD during the course of the pandemic, and (b) place the IDD community in a strong position when the health threats associated with the pandemic abate and post-pandemic social and policy structures are formed.

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22. Trakoshis S, Martínez-Cañada P, Rocchi F, Canella C, You W, Chakrabarti B, Ruigrok AN, Bullmore ET, Suckling J, Markicevic M, Zerbi V, Bailey AJ, Baron-Cohen S, Bolton PF, Bullmore ET, Carrington S, Catani M, Chakrabarti B, Craig MC, Daly EM, Deoni SC, Ecker C, Happé F, Henty J, Jezzard P, Johnston P, Jones DK, Lai MC, Lombardo MV, Madden A, Mullins D, Murphy CM, Murphy DG, Pasco G, Ruigrok AN, Sadek SA, Spain D, Stewart R, Suckling J, Wheelwright SJ, Williams SC, Baron-Cohen S, Gozzi A, Lai MC, Panzeri S, Lombardo MV. Intrinsic excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic men versus women. Elife ;2020 (Aug 4) ;9

Excitation-inhibition (E:I) imbalance is theorized as an important pathophysiological mechanism in autism. Autism affects males more frequently than females and sex-related mechanisms (e.g., X-linked genes, androgen hormones) can influence E:I balance. This suggests that E:I imbalance may affect autism differently in males versus females. With a combination of in-silico modeling and in-vivo chemogenetic manipulations in mice, we first show that a time-series metric estimated from fMRI BOLD signal, the Hurst exponent (H), can be an index for underlying change in the synaptic E:I ratio. In autism we find that H is reduced, indicating increased excitation, in the medial prefrontal cortex (MPFC) of autistic males but not females. Increasingly intact MPFC H is also associated with heightened ability to behaviorally camouflage social-communicative difficulties, but only in autistic females. This work suggests that H in BOLD can index synaptic E:I ratio and that E:I imbalance affects autistic males and females differently.
Autism is a condition that is usually diagnosed early in life that affects how a person communicates and socializes, and is often characterized by repetitive behaviors. One key theory of autism is that it reflects an imbalance in levels of excitation and inhibition in the brain. Excitatory signals are those that make other brain cells more likely to become active ; inhibitory signals have the opposite effect. In non-autistic individuals, inhibitory activity outweighs excitatory activity. In people with autism, by contrast, an increase in excitatory activity is believed to produce an imbalance in excitation and inhibition. Most of the evidence to support this excitation-inhibition imbalance theory has come from studies of rare mutations that cause autism. Many of these mutations occur on the sex chromosomes or are influenced by androgen hormones (hormones that usually play a role on typically male traits). However, most people with autism do not possess these particular mutations. It was thus unclear whether the theory could apply to everyone with autism or, for example, whether it may better apply to specific groups of individuals based on their sex or gender. This is especially important given that about four times as many men and boys compared to women and girls are diagnosed with autism. Trakoshis, Martínez-Cañada et al. have now found a way to ask whether any imbalance in excitation and inhibition in the brain occurs differently in men and women. Using computer modeling, they identified a signal in brain scans that corresponds to an imbalance of excitation and inhibition. After showing that the technique works to identify real increases in excitation in the brain scans of mice, Trakoshis, Martínez-Cañada et al. looked for this signal, or biomarker, in brain scans of people with and without autism. All the people in the study identified with the gender that matched the sex they were assigned at birth. The results revealed differences between the men and women with autism. Men with autism showed an imbalance in excitation and inhibition in specific ‘social brain’ regions including the medial prefrontal cortex, but women with autism did not. Notably, many of these brain regions are strongly affected by androgen hormones. Previous studies have found that women with autism are sometimes better at hiding or ‘camouflaging’ their difficulties when socializing or communicating than men with autism. Trakoshis, Martínez-Cañada et al. showed that the better a woman was at camouflaging her autism, the more her brain activity in this region resembled that of non-autistic women. Excitation-inhibition imbalance may thus affect specific brain regions involved in socializing and communication more in men who have autism than in women with the condition. Balanced excitation and inhibition in these brain areas may enable some women with autism to camouflage their difficulties socializing or communicating. Being able to detect imbalances in activity using standard brain imaging could be useful for clinical trials. Future studies could use this biomarker to monitor responses to drug treatments that aim to adjust the balance between excitation and inhibition.

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23. Türkoğlu S, Uçar HN, Çetin FH, Güler HA, Tezcan ME. The relationship between chronotype, sleep, and autism symptom severity in children with ASD in COVID-19 home confinement period. Chronobiol Int ;2020 (Aug 4):1-7.

This study aimed to investigate the relationship between chronotype preference/sleep problems and symptom severity of children with Autism spectrum disorder (ASD) during the confinement and social isolation of the COVID-19 outbreak. This study included 46 drug-naive children aged 4-17 y diagnosed with ASD. The Autism Behavior Checklist (AuBC), Children’s Sleep Habits Questionnaire (CSHQ), and Children’s chronotype questionnaire (CCQ) were filled out before and at the end of the COVID-19 mandated home confinement by the children’s parents. Children with ASD during the home confinement reported higher chronotype scores, i.e., eveningness chronotype, sleep problems, and autism symptom scores compared to the normal non-hone confinement state. The chronotype score and sleep problems of children with ASD during the home confinement period varied according to the AuBC score. The sleep problems of the children with ASD during the home confinement period mediated the relationship between chronotype score and severity of autism symptoms. It is essential to validate the role of the mediator effect of sleep problems and chronotype in larger samples of children with ASD with restricted to home confinement during the pandemic period. If sleep problems can be controlled with parental education, pharmacotherapy, and psychotherapeutic interventions, the impact on children with ASD of home confinement can be reduced.

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24. Turnbull A, Garfinkel SN, Ho NSP, Critchley HD, Bernhardt BC, Jefferies E, Smallwood J. Corrigendum to ’Word up-experiential and neurocognitive evidence for associations between autistic symptomology and a preference for thinking in the form of words’ [Cortex 128 (2020) 88-106]. Cortex ;2020 (Jul 23)

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25. Veenstra L, Barlow P, Kossioni A, Popescu SM, Mercut V, Tuculina MJ, Scrieciu M, Stanusi A, Marchini L. Translation and Validation of the Ageism Scale for Dental Students in Romanian (ASDS-Rom). Eur J Dent Educ ;2020 (Aug 4)

AIMS : The aim of this paper was to validate the Romanian version of an ageism scale for dental students. MATERIALS AND METHODS : The initial 27-item ageism scale was translated into Romanian and administered to 210 dental students in Craiova. The data was analysed using Principal Components Analysis (PCA) with an orthogonal, Varimax rotation. The answers were then compared across several demographic variables using a combination of independent samples t-tests and one-way between subjects analysis of variance (ANOVA). RESULTS : Adequate factorability was confirmed with a Kaiser-Meyer-Olkin (KMO) of 0.676 and a Bartlett’s Test of Sphericity yielding p < 0.001. PCA revealed a 10-item scale distributed into three components that accounted for 58% of the overall variance. The first component contained 4 items related to the cost-benefit of providing care to older patients (α=0.80). The second contained 3 items that revolved around the perceptions about older people and their value in the society (α =0.59). The third contained 3 items related to gerodontology training (α =0.46). Discriminant validity showed differences in the first component based on whether a student had an older family member. CONCLUSIONS : The 10-item, three components scale demonstrated acceptable validity and reliability.

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26. Vermeirsch J, Verhaeghe L, Casaer A, Faes F, Oostra A, Roeyers H. Diagnosing Autism Spectrum Disorder in Toddlers Born Very Preterm : Estimated Prevalence and Usefulness of Screeners and the Autism Diagnostic Observation Schedule (ADOS). J Autism Dev Disord ;2020 (Aug 5)

This study estimated ASD prevalence in a cohort of 3-year-old very preterm children (N = 55) and investigated the usefulness of parent-reported ASD screeners and the ADOS-2. 12.7% received an ASD diagnosis by clinical judgment based on DSM-5 criteria. An additional 14.5% were classified as having a broader-autism-phenotype outcome. Sensitivity values for the screeners were poor, whereas specificity values ranged from poor to excellent. The ADOS-2 identified all children with ASD and had a fair specificity. These findings confirm the elevated ASD prevalence made by previous studies with preterm children but also highlight the challenges of successfully identifying ASD in this at-risk group. Caution is warranted when interpreting results of ASD instruments with the currently available cut-off scores and algorithms, especially when developmental challenges are present.

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27. Vuillier L, Carter Z, Teixeira AR, Moseley RL. Alexithymia may explain the relationship between autistic traits and eating disorder psychopathology. Mol Autism ;2020 (Aug 5) ;11(1):63.

BACKGROUND : Autistic people are disproportionately vulnerable to anorexia nervosa and other eating disorders (ED), and within the general population, autistic traits correlate with ED psychopathology. A putative mechanism which may underpin this heightened risk is alexithymia, a difficulty identifying and describing emotional states which is observed in both autism and ED. In two experiments with independent non-clinical samples, we explored whether alexithymia might mediate the heightened risk of eating psychopathology in individuals high in autistic traits. METHODS : Our first experiment used the PROCESS macro for SPSS to examine relationships between alexithymia (measured by the Toronto Alexithymia Scale (TAS-20)), autistic traits (autism quotient (AQ)), and eating psychopathology (Eating Attitudes Test (EAT-26)) in 121 participants. Our second experiment (n = 300) replicated and furthered this analysis by examining moderating effects of sex and controlling for anxiety and depression as covariates. We also included an additional performance-based measure of alexithymia, the Levels of Emotional Awareness Scale (LEAS). RESULTS : Study 1 suggested that TAS-20 scores mediated the relationship between heightened autistic traits and eating psychopathology. Replication and further scrutiny of this finding, in study 2, revealed that this mediation effect was partial and specific to the female participants in this sample. The mediation effect appeared to be carried by the difficulty identifying feelings subscale of the TAS-20, even when depression and anxiety were controlled for. LEAS scores, however, were not significantly related to autistic traits or eating psychopathology. LIMITATIONS : Cross-sectional data prevents any conclusions around the direction and causality of relationships between alexithymia, autistic traits, and eating psychopathology (alongside depression and anxiety), necessitating longitudinal research. Our non-clinical sample was predominantly Caucasian undergraduate students, so it remains to be seen if these results would extrapolate to clinical and/or autistic samples. Divergence between the TAS-20 and LEAS raises crucial questions regarding the construct validity of these measures. CONCLUSIONS : Our findings with respect to autistic traits suggest that alexithymia could partially explain the prevalence of ED in autistic people and may as such be an important consideration in the pathogenesis and treatment of ED in autistic and non-autistic people alike. Further research with clinical samples is critical to explore these ideas. Differences between men and women, furthermore, emphasize the importance of looking for sex-specific as well as generic risk factors in autistic and non-autistic men and women.

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28. Vyas Y, Lee K, Jung Y, Montgomery JM. Influence of maternal zinc supplementation on the development of autism-associated behavioural and synaptic deficits in offspring Shank3-knockout mice. Mol Brain ;2020 (Aug 5) ;13(1):110.

Autism Spectrum Disorders (ASD) are characterised by deficits in social interactions and repetitive behaviours. Multiple ASD-associated mutations have been identified in the Shank family of proteins that play a critical role in the structure and plasticity of glutamatergic synapses, leading to impaired synapse function and the presentation of ASD-associated behavioural deficits in mice. Shank proteins are highly regulated by zinc, where zinc binds the Shank SAM domain to drive synaptic protein recruitment and synaptic maturation. Here we have examined the influence of maternal dietary zinc supplementation during pregnancy and lactation on the development of ASD-associated behavioural and synaptic changes in the offspring Shank3 knockout (Shank3(-/-)) mice. Behavioural and electrophysiological experiments were performed in juvenile and adult Shank3(-/-) and wildtype littermate control mice born from mothers fed control (30 ppm, ppm) or supplemented (150 ppm) dietary zinc. We observed that the supplemented maternal zinc diet prevented ASD-associated deficits in social interaction and normalised anxiety behaviours in Shank3(-/-) offspring mice. These effects were maintained into adulthood. Repetitive grooming was also prevented in adult Shank3(-/-) offspring mice. At the synaptic level, maternal zinc supplementation altered postsynaptic NMDA receptor-mediated currents and presynaptic function at glutamatergic synapses onto medium spiny neurons in the cortico-striatal pathway of the Shank3(-/-) offspring mice. These data show that increased maternal dietary zinc during pregnancy and lactation can alter the development of ASD-associated changes at the synaptic and the behavioural levels, and that zinc supplementation from the beginning of brain development can prevent ASD-associated deficits in Shank3(-/-) mice long term.

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29. Wang X, Kohl A, Yu X, Zorio DAR, Klar A, Sela-Donenfeld D, Wang Y. Temporal-specific roles of Fragile X mental retardation protein in the development of hindbrain auditory circuit. Development ;2020 (Aug 3)

Fragile X mental retardation protein (FMRP) is an RNA-binding protein abundant in the nervous system. Functional loss of FMRP leads to sensory dysfunction and severe intellectual disabilities. In the auditory system, FMRP deficiency alters neuronal function and synaptic connectivity and results in perturbed processing of sound information. Nevertheless, roles of FMRP in embryonic development of the auditory hindbrain have not been identified. Here, we developed high-specificity approaches to genetically track and manipulate throughout development the Atho1(+) neuronal cell type, which is highly conserved in vertebrates, in the cochlear nucleus of chicken embryos. We identified distinct FMRP-containing granules in the growing axons of Atho1(+) neurons and post-migrating NM cells. FMRP downregulation via Crispr/Cas9 and shRNA techniques resulted in perturbed axonal pathfinding, delay in midline crossing, excess branching of neurites, and axonal targeting errors during the period of circuit development. Together, these results provide the first in vivo identification of FMRP localization and actions in developing axons of auditory neurons, and demonstrate the importance of investigating early embryonic alterations toward understanding the pathogenesis of neurodevelopmental disorders.

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30. Warren N, Eatchel B, Kirby AV, Diener M, Wright C, D’Astous V. Parent-identified strengths of autistic youth. Autism ;2020 (Aug 5):1362361320945556.

Autism is a condition frequently characterized by social and communication challenges. Because most research focuses on understanding and reducing challenges, less is known about the strengths of autistic individuals. This is especially true of those who are transitioning into adulthood. We designed this research study to provide information about how parents perceive the strengths of their autistic adolescent children prior to the transition. We reviewed 39 parent interviews from previous research about how they prepare their autistic sons and daughters for adulthood. Without prompting, parents identified many strengths of their autistic children. Diverse strengths and skills they identified included intelligence, creativity, physical abilities, and self-care skills. These strengths are interesting, as they cover traits that are often thought of as areas of difficulty for autistic youth. However, parents also talked about strengths alongside challenges, and how specific supports would be needed to help their sons and daughters fully realize their strengths. These findings are important, as they help us know more about the strengths of autistic youth and how strengths can be supported when preparing for adulthood. Our findings also help reveal strengths that are particularly apparent during the transition to adulthood.

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31. Zavaleta-Ramírez P, Rosetti MF, Albores-Gallo L, Vargas-Soberanis MA, López ON, Medina-Mora ME. Pathways to a Diagnosis of Autism Spectrum Disorder. Psychiatr Serv ;2020 (Aug 4):appips201900518.

OBJECTIVE : This study aimed to analyze the pathways to obtaining a diagnosis of autism spectrum disorder (ASD) within the Mexican health system. METHODS : Parents of children with ASD (N=186) were approached at specialized health centers and interviewed about the sequence of professionals they contacted that led to a diagnosis. The authors established the pathway to diagnosis, time of first parental concerns, time of first consultation, age of the child at diagnosis, and other measures. A Sankey plot was used to illustrate the complexity of the pathway to diagnosis. Diagnostic delays among children with autism were compared with delays among subsamples of children with Asperger’s syndrome. Regression analysis was used to evaluate the effect of socioeconomic and clinical variables on diagnostic delays. RESULTS : The median diagnostic delay was 27 months (interquartile range [IQR] 8-36), and three professional contacts (IQR 3-6) were needed to achieve a diagnosis. Patients switched between primary and tertiary care even in later stages of the pathway. Patients with Asperger’s syndrome had longer delays than patients with autism, and girls and older patients took more time to receive a diagnosis. Parental concerns regarding language, developmental issues, and perceived developmental regression resulted in shorter diagnostic delays. CONCLUSIONS : Pathways to diagnosis of ASD are long and involve multiple contacts, with patients alternating between primary and specialized care. This pattern reflects failures in the diagnostic protocols and referral systems of clinical centers in Mexico, and such issues may be experienced in countries with similarly overwhelmed health care systems.

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Formations pour les Familles et les Proches

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1-Formation à l’état des connaissances de l’autisme

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