Pubmed du 07/09/20

lundi 7 septembre 2020

1. Alizadeh R, Bahmanpoor Z, Jalali-Qomi S, Amiri M, Afkhami H, Khaledi M, Moosavi R, Akouchekian M. MicroRNA-targeted signaling pathways in the Autism spectrum disorder : implications for early detection and targeted therapy. CNS Neurol Disord Drug Targets ;2020 (Sep 7)

BACKGROUND & OBJECTIVE : Autism Spectrum Disorders (ASD) known as a neurodevelopmental disorder showing communication impairments and unusual patterns of behavior .It seems that ASD frequency is on the increase. Therefore, diagnostic tools that help detect the disease in the early stages can be very useful in better management of the disease. Recent studies represent that miRNAs as novel biomarkers can be used to find out the process and etiology of ASD by regulating various genes of multiple pathways. However, ASD associated pathway targeted by miRNA is still in infancy. METHODS : In this in-silico study taking into consideration the importance of miRNAs, we reviewed bioinformatics databases for finding possible pathways and potential miRNAs related to selected pathways. RESULTS : The results displayed some prominent pathways involved in ASD, as well as some experimental and predicted miRNAs that may regulate targets associated with these pathways such as neuroactive ligand-receptor interaction, serotonergic synapse, calcium signaling pathway, cAMP Signaling Pathway, PI3K-Akt signaling pathway. CONCLUSION : This study showed that the identified miRNAs may be involved in ASD-related pathways and may be considered as a new diagnostic tool and provide potential targets for the treatment of ASD.

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2. Cheak-Zamora N, Petroski G, La Manna A, Beversdorf D, Farmer J. Validation of the Health-Related Independence for Young Adults with Autism Spectrum Disorder Measure- Caregiver Version. J Autism Dev Disord ;2020 (Sep 5)

Little is known about Young adults with Autism Spectrum Disorder (YA-ASD) health, healthcare and safety needs. This study describes the validation of a health care transition measure for YA-ASD, the Health-Related Independence (HRI). We collected data from caregivers (n = 490) at five Autism Treatment Network sites and compared the psychometric properties of HRI to the gold standard (STAR(x)) and other validated measures. A Confirmatory Factor Analysis and item culling resulted in 30 items addressing six subscales. Content, criterion, and construct validity and internal consistency indicated high validity and reliability for the scale and subscales. HRI is a validated caregiver-report measure of YA-ASD’s self-management, safety, and transition skills. This novel measure will be a useful tool in clinics, intervention development, and research.

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3. Dada S, Flores C, Bastable K, Schlosser RW. The effects of augmentative and alternative communication interventions on the receptive language skills of children with developmental disabilities : A scoping review. Int J Speech Lang Pathol ;2020 (Sep 7):1-11.

PURPOSE : To map and synthesise research evidence of the effects that aided and unaided AAC interventions have on the receptive language of children with developmental disabilities. METHOD : This scoping review used a four-pronged search strategy (electronic databases, dissertations and theses, hand search, ancestry searches) to identify germane studies. A total of 16 studies met the inclusion criteria. These studies were described in terms of the number of participants, participant characteristics, research design, AAC interventions, intervention outcomes, intervention effects, and quality appraisal. RESULT : The review revealed positive associations between aided and unaided AAC, vocabulary acquisition and symbol comprehension. CONCLUSION : AAC interventions may have merit for the development of receptive language skills in children with developmental disabilities. Specific gaps in relation to unaided AAC, aided augmented input strategies, morphological and syntax development, and discourse comprehension are highlighted.

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4. Dekker V, Nauta MH, Timmerman ME, Mulder EJ, Hoekstra PJ, de Bildt A. Application of Latent Class Analysis to Identify Subgroups of Children with Autism Spectrum Disorders who Benefit from Social Skills Training. J Autism Dev Disord ;2020 (Sep 5)

With Latent Class Analysis applied on data of 98 children with autism spectrum disorder (ASD) (9-12 years ; 17 girls) participating in social skills training (SST) in a randomized controlled trial (Dekker et al. 2019), four subgroups were detected, based on social-communicative skills before, and response patterns to training. Two subgroups improved after SST. Characterizing the subgroups based on participant and intervention characteristics showed that improvement was related to lower parent-reported perceived difficulty of social-communicative skills at start, higher verbal ability, younger age and milder symptoms of ASD and anxiety. The lowest performing non-improving subgroup participated more often in SST without parent/teacher involvement, compared to all other subgroups. Response to SST in ASD seems to vary depending on participant characteristics.

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5. Fusar-Poli L, Brondino N, Politi P, Aguglia E. Missed diagnoses and misdiagnoses of adults with autism spectrum disorder. Eur Arch Psychiatry Clin Neurosci ;2020 (Sep 6)

Autism spectrum disorder (ASD) is a group of life-long neurodevelopmental disorders affecting 1.5% of the general population. The present study aimed to evaluate the psychiatric history of a group of adults who received the first diagnosis of ASD in two Italian university centers. Diagnoses of ASD were confirmed by a team of psychiatrists with wide expertise in the field, after the administration of standardized tools (i.e., ADOS-2, ADI-R). The sample comprised 161 participants, of which 114 (79.5%) were males. The median age of diagnosis was 23 years (range 18-55), with a median IQ of 100 (range 30-145). The first evaluation by a mental health professional was performed at a median age of 13 years, with a gap of 11 years between the first evaluation and the diagnosis of ASD. 33.5% of participants had never received a psychiatric diagnosis, while the rest of the sample had received one or more diagnoses different from ASD. The most common past diagnoses were intellectual disability, psychoses, personality disorders, and depression. Sex differences were detected in the age of diagnosis and ADOS-2 scores. Our results provide important information for both child and adult psychiatrists. Given the prevalence of autism and the high rates of co-occurrent psychiatric conditions, it is important for clinicians to consider ASD in the differential diagnostic process.

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6. Iadarola S, Pellecchia M, Stahmer A, Lee HS, Hauptman L, Hassrick EM, Crabbe S, Vejnoska S, Morgan E, Nuske H, Luelmo P, Friedman C, Kasari C, Gulsrud A, Mandell D, Smith T. Mind the gap : an intervention to support caregivers with a new autism spectrum disorder diagnosis is feasible and acceptable. Pilot Feasibility Stud ;2020 ;6:124.

INTRODUCTION : Children with autism spectrum disorder (ASD) benefit when their caregivers can effectively advocate for appropriate services. Barriers to caregiver engagement such as provider mistrust, cultural differences, stigma, and lack of knowledge can interfere with timely service access. We describe Mind the Gap (MTG), an intervention that provides education about ASD, service navigation, and other topics relevant to families whose children have a new ASD diagnosis. MTG was developed via community partnerships and is explicitly structured to reduce engagement barriers (e.g., through peer matching, meeting flexibility, culturally-informed practices). We also present on the results of a pilot of MTG, conducted in preparation for a randomized controlled trial. METHODS : MTG was evaluated using mixed methods that included qualitative analysis and pre/post-test without concurrent comparison group. Participants (n=9) were primary caregivers of children (ages 2-7 years) with a recent ASD diagnosis and whose annual income was at or below 185% of the federal poverty level. In order to facilitate trust and relationship building, peer coaches delivered MTG. The coaches were parents of children with ASD who we trained to deliver the intervention. MTG consisted of up to 12 meetings between coaches and caregivers over the course of 18 weeks. Coaches delivered the intervention in homes and other community locations. Coaches shared information about various "modules," which were topics identified as important for families with a new ASD diagnosis. Coaches worked with families to answer questions, set weekly goals, assess progress, and offer guidance. For the pilot, we focused on three primary outcomes : feasibility, engagement, and satisfaction. Feasibility was measured via enrollment and retention data, as well as coach fidelity (i.e., implementation of MTG procedures). Engagement was measured via number of sessions attended and percentage completion of the selected outcome measures. For completers (n=7), satisfaction was measured via a questionnaire (completed by caregivers) and open-ended interviews (completed by caregivers and coaches). RESULTS : We enrolled 56% of referred caregivers and 100% of eligible families. Retention was high (78%). Coaches could deliver the intervention with fidelity, completing, on average, 83% of program components. Engagement also was high ; caregivers attended an average of 85% of total possible sessions and completed 100% of their measures. Caregivers indicated moderately high satisfaction with MTG. Qualitative data indicated that caregivers and coaches were positive about intervention content, and the coach-caregiver relationship was important. They also had suggestions for changes. CONCLUSION : Mind the Gap demonstrates evidence of feasibility, and data from the pilot suggest that it addresses intervention engagement barriers for a population that is under-represented in research. The results and suggestions from participants were used to inform a large-scale RCT, which is currently underway. Overall, MTG shows promise as an intervention that can be feasibly implemented with under-resourced and ethnic minority families of children with ASD. TRIAL REGISTRATION : This study is registered with : NCT03711799.

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7. Li B, Xu Y, Zhang X, Zhang L, Wu Y, Wang X, Zhu C. The effect of vitamin D supplementation in treatment of children with autism spectrum disorder : a systematic review and meta-analysis of randomized controlled trials. Nutr Neurosci ;2020 (Sep 7):1-11.

Objective : The effect of vitamin D supplementation on the risk of Autism Spectrum Disorder (ASD) is conflicting. The aim of this study was to estimate the efficacy of vitamin D supplementation on ASD in children. Methods : We conducted a meta-analysis of randomized controlled trials (RCTs) in which vitamin D supplementation was used as a therapy in children with ASD. The PubMed, PsychINFO, Cochrane CENTRAL library, Web of Science, and Cinahl databases were searched from inception to March 20, 2019, for all publications on vitamin D and ASD with no restrictions. Studies involving individuals aged <18 years diagnosed with ASD and with all functional outcomes assessed by measurement scales for ASD were included. Mean differences were pooled, and a meta-analysis was performed using a random-effects model due to differences between the individual RCTs. Results : There were five RCTs with 349 children with ASD in the review, of which three RCTs were included in the meta-analysis. Vitamin D supplementation indicated a small but significant improvement in hyperactivity scores (pooled MD : -3.20 ; 95% CI : [-6.06, -0.34]) with low heterogeneity (I(2) = 10%, p = 0.33), but there were no other statistically significant differences in ASD symptoms between groups as measured by validated scales. Conclusion : Vitamin D supplementation appears to be beneficial for hyperactivity but not for core symptoms or other co-existing behaviors and conditions of ASD. Future RCTs with large sample sizes examining the effect of vitamin D supplementation on ASD among individuals with low serum vitamin D levels at baseline are needed.

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8. Mercado E, 3rd, Chow K, Church BA, Lopata C. Perceptual category learning in autism spectrum disorder : Truth and consequences. Neurosci Biobehav Rev ;2020 (Sep 7)

The ability to categorize is fundamental to cognitive development. Some categories emerge effortlessly and rapidly while others can take years of experience to acquire. Children with autism spectrum disorder (ASD) are often able to name and sort objects, suggesting that their categorization abilities are largely intact. However, recent experimental work shows that the categories formed by individuals with ASD may diverge substantially from those that most people learn. This review considers how atypical perceptual category learning can affect cognitive development in children with ASD and how atypical categorization may contribute to many of the socially problematic symptoms associated with this disorder. Theoretical approaches to understanding perceptual processing and category learning at both the behavioral and neural levels are assessed in relation to known alterations in perceptual category learning associated with ASD. Mismatches between the ways in which children learn to organize perceived events relative to their peers and adults can accumulate over time, leading to difficulties in communication, social interactions, academic performance, and behavioral flexibility.

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9. Moradi K, Ashraf-Ganjouei A, Tavolinejad H, Bagheri S, Akhondzadeh S. The interplay between gut microbiota and autism spectrum disorders : A focus on immunological pathways. Prog Neuropsychopharmacol Biol Psychiatry ;2020 (Sep 4):110091.

Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders characterized by impairments in social and cognitive activities, stereotypical and repetitive behaviors and restricted areas of interest. A remarkable proportion of ASD patients represent immune dysregulation as well as gastrointestinal complications. Hence, a novel concept has recently emerged, addressing the possible intercommunication between the brain, the immune system, the gut and its commensals. Here, we provide an overview of how gut microbes and their metabolites are associated with neurobehavioral features of ASD through various immunologic mechanisms. Moreover, we discuss the potential therapeutic options that could modify these features.

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10. Rahbar MH, Samms-Vaughan M, Saroukhani S, Lee M, Zhang J, Bressler J, Hessabi M, Shakespeare-Pellington S, Grove ML, Loveland KA. Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children. J Autism Dev Disord ;2020 (Sep 6)

Using data from 266 age- and sex-matched pairs of Jamaican children with autism spectrum disorder (ASD) and typically developing (TD) controls (2-8 years), we investigated whether glutathione S-transferase theta 1 (GSTT1) modifies the association between blood manganese concentrations (BMC) and ASD. After adjusting conditional logistic regression models for socioeconomic status and the interaction between GSTT1 and GSTP1 (glutathione S-transferase pi 1), using a recessive genetic model for GSTT1 and either a co-dominant or dominant model for GSTP1, the interaction between GSTT1 and BMC was significant (P = 0.02, P = 0.01, respectively). Compared to controls, ASD cases with GSTT1-DD genotype had 4.33 and 4.34 times higher odds of BMC > 12 vs. ≤ 8.3 μg/L, respectively. Replication in other populations is warranted.

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11. Rein B, Ma K, Yan Z. A standardized social preference protocol for measuring social deficits in mouse models of autism. Nat Protoc ;2020 (Sep 7)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and other behavioral abnormalities. The three-chamber social preference test is often used to assess social deficits in mouse models of ASD. However, varying and often contradicting phenotypic descriptions of ASD mouse models can be found in the scientific literature, and the substantial variability in the methods used by researchers to assess social deficits in mice could be a contributing factor. Here we describe a standardized three-chamber social preference protocol, which is sensitive and reliable at detecting social preference deficits in several mouse models of ASD. This protocol comprises three phases that can all be completed within 1 d. The test mouse is first habituated to the apparatus containing two empty cups in the side chambers, followed by the pre-test phase in which the mouse can interact with two identical inanimate objects placed in the cups. During the test phase, the mouse is allowed to interact with a social stimulus (an unfamiliar wild-type (WT) mouse) contained in one cup and a novel non-social stimulus contained in the other cup. The protocol is thus designed to assess preference between social and non-social stimuli under conditions of equal salience. The broad implementation of the three-chamber social preference protocol presented here should improve the accuracy and consistency of assessments for social preference deficits associated with ASD and other psychiatric disorders.

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12. Reyes NM, Factor R, Scarpa A. Emotion regulation, emotionality, and expression of emotions : A link between social skills, behavior, and emotion problems in children with ASD and their peers. Res Dev Disabil ;2020 (Sep 7) ;106:103770.

This study aimed to investigate differences between emotion regulation (ER), emotionality, and expression of emotions in children with Autism Spectrum Disorder (ASD) and their typically developing (TD) peers ; and to examine the potential links between these areas of development with social skills in both groups, as well as with behavioral, emotional, and social problems in ASD. Forty-four children (40 males and 4 females, ages 3 to 7 years) with ASD (n = 22) and their TD peers (n = 22) were included in this study. Mothers reported about their children’s ASD symptoms, social, emotional, and behavioral functioning. As predicted, children with ASD were described as showing decreased ER, increased emotionality, and decreased expression of emotions when compared to their TD peers. Moreover, in the ASD group, increased social skills were associated with enhanced ER and increased expression of emotions ; and in the TD group, increased social skills were correlated with decreased emotionality. Finally, enhanced ER was linked to decreased peer problems, and increased prosocial behaviors ; and decreased emotionality was linked to decreased behavior and emotional problems in the ASD group. Implications for further research are discussed.

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13. Rollins PR, De Froy A, Campbell M, Hoffman RT. Mutual Gaze : An Active Ingredient for Social Development in Toddlers with ASD : A Randomized Control Trial. J Autism Dev Disord ;2020 (Sep 7)

We examined the efficacy of an early autism intervention for use in early childhood intervention (ECI) and mutual gaze as a contributor to social development. Seventy-eight families were randomly assigned to one of three 12-week interventions : Pathways (with a mutual gaze component), communication, or services-as-usual (SAU). The Pathways/SAU comparison concerned the efficacy of Pathways for ECI, and the Pathways/communication comparison, mutual gaze. The Pathways group made significantly more change on social measures, communicative synchrony, and adaptive functioning compared with the SAU group and on social measures compared with the communication group. There were no group differences for communicative acts. The results support Pathways as a potential ECI program and mutual gaze as an active ingredient for social and communication development.

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14. Roussin L, Prince N, Perez-Pardo P, Kraneveld AD, Rabot S, Naudon L. Role of the Gut Microbiota in the Pathophysiology of Autism Spectrum Disorder : Clinical and Preclinical Evidence. Microorganisms ;2020 (Sep 7) ;8(9)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1 in 160 people in the world. Although there is a strong genetic heritability to ASD, it is now accepted that environmental factors can play a role in its onset. As the prevalence of gastrointestinal (GI) symptoms is four-times higher in ASD patients, the potential implication of the gut microbiota in this disorder is being increasingly studied. A disturbed microbiota composition has been demonstrated in ASD patients, accompanied by altered production of bacterial metabolites. Clinical studies as well as preclinical studies conducted in rodents have started to investigate the physiological functions that gut microbiota might disturb and thus underlie the pathophysiology of ASD. The first data support an involvement of the immune system and tryptophan metabolism, both in the gut and central nervous system. In addition, a few clinical studies and a larger number of preclinical studies found that modulation of the microbiota through antibiotic and probiotic treatments, or fecal microbiota transplantation, could improve behavior. Although the understanding of the role of the gut microbiota in the physiopathology of ASD is only in its early stages, the data gathered in this review highlight that this role should be taken in consideration.

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15. Swanson MR. The role of caregiver speech in supporting language development in infants and toddlers with autism spectrum disorder. Dev Psychopathol ;2020 (Sep 7):1-10.

Parents play an essential role in supporting child development by providing a safe home, proper nutrition, and rich educational opportunities. In this article we focus on the role of caregiver speech in supporting development of young children with autism spectrum disorder (ASD). We review studies from typically developing children and children with autism showing that rich and responsive caregiver speech supports language development. Autism intervention studies that target caregiver speech are reviewed as are recent scientific advances from studies of typical development. The strengths and weakness of different techniques for collecting language data from caregivers and children are reviewed, and natural language samples are recommended as best practice for language research in autism. We conclude that caregivers play a powerful role in shaping their children’s development and encourage researchers to adapt parent-mediated intervention studies to acknowledge individual differences in parents by using a personalized medicine approach.

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16. Townsend L, Robeson A, Vonk J, Rohrbeck K. Autism does not Dictate Children’s Lack of Sharing in a Prosocial Choice Test. J Autism Dev Disord ;2020 (Sep 5)

Studies have examined the association between theory of mind (ToM) and prosocial behavior in children with mixed results. A handful of studies have examined prosocial sharing behavior in children with autism, who typically exhibit ToM deficits. Studies using resource allocation tasks have generally failed to find significant differences between the sharing behavior of children with autism and neurotypical children. We presented 18 neurotypical children and 33 children with autism with the Dictator Game. Children had the opportunity to allocate toys in recipient present and absent conditions. Both groups donated more items in the recipient present versus absent condition and chose the prosocial option at above chance levels. Children with autism behave as prosocially as neurotypical children do in this paradigm.

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17. Yarger HA, Redcay E. A conceptual model of risk and protective factors associated with internalizing symptoms in autism spectrum disorder : A scoping review, synthesis, and call for more research. Dev Psychopathol ;2020 (Sep 7):1-19.

This paper reviews and synthesizes key areas of research related to the etiology, development, and maintenance of internalizing symptoms in children, adolescents, and adults with autism spectrum disorder (ASD). In developing an integrated conceptual model, we draw from current conceptual models of internalizing symptoms in ASD and extend the model to include factors related to internalizing within other populations (e.g., children that have experienced early life stress, children with other neurodevelopmental conditions, typically developing children) that have not been systematically examined in ASD. Our review highlights the need for more research to understand the developmental course of internalizing symptoms, potential moderators, and the interplay between early risk and protective factors. Longitudinal studies incorporating multiple methods and both environmental and biological factors will be important in order to elucidate these mechanisms.

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