Pubmed du 22/06/20

lundi 22 juin 2020

1. Arango C. Reply to : Another Vision From the Coronavirus Health Crisis in Spain : The Perspective From the Plena inclusión Developmental Disabilities Associative Movement. Biol Psychiatry ;2020 (Jun 1)

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2. Churchill LE, Delk PR, Wilson TE, Torres-Martinez W, Rouse CE, Marine MB, Piechan JL. Fetal MRI and Ultrasound Findings of a Confirmed Asparagine Synthetase Deficiency (ASD) Case. Prenat Diagn ;2020 (Jun 21)

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3. Drahota A, Sadler R, Hippensteel C, Ingersoll B, Bishop L. Service deserts and service oases : Utilizing geographic information systems to evaluate service availability for individuals with autism spectrum disorder. Autism ;2020 (Jun 22):1362361320931265.

Autism spectrum disorder and co-occurring symptoms often require lifelong services. However, access to autism spectrum disorder services is hindered by a lack of available autism spectrum disorder providers. We utilized geographic information systems methods to map autism spectrum disorder provider locations in Michigan. We hypothesized that (1) fewer providers would be located in less versus more populated areas ; (2) neighborhoods with low versus high socioeconomic status would have fewer autism spectrum disorder providers ; and (3) an interaction would be found between population and socioeconomic status such that neighborhoods with low socioeconomic status and high population would have few available autism spectrum disorder providers. We compiled a list of autism spectrum disorder providers in Michigan, geocoded the location of providers, and used network analysis to assess autism spectrum disorder service availability in relation to population distribution, socioeconomic disadvantage, urbanicity, and immobility. Individuals in rural neighborhoods had fewer available autism spectrum disorder providers than individuals in suburban and urban neighborhoods. In addition, neighborhoods with greater socioeconomic status disadvantage had fewer autism spectrum disorder providers available. Finally, wealthier suburbs had good provider availability while few providers were available in poorer, urban neighborhoods. Knowing autism spectrum disorder providers’ availability, and neighborhoods that are particularly poorly serviced, presents the opportunity to utilize evidence-based dissemination and implementation strategies that promote increased autism spectrum disorder providers for underserved individuals.

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4. Friedman L, Lorang E, Hilvert E, Sterling A. "Are We Done Yet ?" Question-Asking in Boys With Fragile X Syndrome and Idiopathic Autism Spectrum Disorder. J Speech Lang Hear Res ;2020 (Jun 22) ;63(6):1822-1834.

Purpose Question-asking serves as a tool to learn new information and is important in both academic and social settings. Boys with idiopathic autism spectrum disorder (ASD) and boys with fragile X syndrome and comorbid ASD (FXS + ASD) have similar social communication deficits, which may have downstream effects on their question-asking ability. This study examined question-asking in school-age boys with idiopathic ASD and FXS + ASD, including the role of ASD severity, expressive grammatical complexity (measured by mean length of utterance [MLU]), and IQ. Method Twenty-five boys with FXS + ASD and 21 boys with idiopathic ASD (ages 9-16 years) were included in this study. Autism Diagnostic Observation Schedule assessments were transcribed and coded for the frequency, function, and appropriateness of spontaneous questions asked. We examined group differences in these aspects of question-asking and relationships between question-asking and ASD severity, MLU, and IQ within each group. Results Boys with FXS + ASD asked more questions than boys with idiopathic ASD, although boys with idiopathic ASD asked a higher proportion of appropriate questions. Boys with idiopathic ASD also asked the examiner more personal questions than the boys with FXS + ASD. ASD severity and MLU were related to the proportion of clarification questions in FXS + ASD, and ASD severity was also related to the proportion of personal questions in this group. For the boys with idiopathic ASD, ASD severity was related to the total number of questions asked. Conclusions Our findings highlight similarities and differences between boys with FXS + ASD and idiopathic ASD in their spontaneous question production and indicate that ASD severity and grammatical language are differentially important for question-asking. This study has implications for targeted treatment in question-asking skills for boys with FXS + ASD and ASD.

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5. Galván E. Another Vision From the Coronavirus Health Crisis in Spain : The Perspective From the Plena inclusión Developmental Disabilities Associative Movement. Biol Psychiatry ;2020 (Jun 1)

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6. Gerasimenko M, Cherepanov SM, Furuhara K, Lopatina O, Salmina AB, Shabalova AA, Tsuji C, Yokoyama S, Ishihara K, Brenner C, Higashida H. Nicotinamide riboside supplementation corrects deficits in oxytocin, sociability and anxiety of CD157 mutants in a mouse model of autism spectrum disorder. Sci Rep ;2020 (Jun 22) ;10(1):10035.

Oxytocin (OT) is a critical molecule for social recognition and memory that mediates social and emotional behaviours. In addition, OT acts as an anxiolytic factor and is released during stress. Based on the activity of CD38 as an enzyme that produces the calcium-mobilizing second messenger cyclic ADP-ribose (cADPR), CD157, a sister protein of CD38, has been considered a candidate mediator for the production and release of OT and its social engagement and anti-anxiety functions. However, the limited expression of CD157 in the adult mouse brain undermined confidence that CD157 is an authentic and/or actionable molecular participant in OT-dependent social behaviour. Here, we show that CD157 knockout mice have low levels of circulating OT in cerebrospinal fluid, which can be corrected by the oral administration of nicotinamide riboside, a recently discovered vitamin precursor of nicotinamide adenine dinucleotide (NAD). NAD is the substrate for the CD157- and CD38-dependent production of cADPR. Nicotinamide riboside corrects social deficits and fearful and anxiety-like behaviours in CD157 knockout males. These results suggest that elevating NAD levels with nicotinamide riboside may allow animals with cADPR- and OT-forming deficits to overcome these deficits and function more normally.

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7. Jenkinson R, Milne E, Thompson A. The relationship between intolerance of uncertainty and anxiety in autism : A systematic literature review and meta-analysis. Autism ;2020 (Jun 22):1362361320932437.

People who find it especially hard to cope with the unexpected or unknown are said to have an intolerance of uncertainty. Autistic individuals often report a preference for certainty and experience levels of anxiety that can interfere with their daily life. Understanding more about the link between the intolerance of uncertainty and anxiety in autistic people might lead to better treatments for anxiety being developed. Therefore, this work aimed to review previous research in order to explore this link. Twelve studies were found and their results were compared and contrasted. The autistic people who participated in the studies completed questionnaires that suggested a large number of them experienced very high levels of anxiety and intolerance of uncertainty. Of 10 studies that used relevant statistics, nine found a statistically significant link between anxiety and the intolerance of uncertainty. In general, the strength of the link was about the same as previous research found in people who did not have a diagnosis of autism. This might mean that interventions that aim to help people who are intolerant of uncertainty could be effective for autistic individuals.

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8. Kutuk MO, Tufan E, Gokcen C, Kilicaslan F, Karadag M, Mutluer T, Yektas C, Coban N, Kandemir H, Buber A, Coskun S, Acikbas U, Guler G, Topal Z, Celik F, Altintas E, Giray A, Aka Y, Kutuk O. Cytokine expression profiles in Autism spectrum disorder : A multi-center study from Turkey. Cytokine ;2020 (Jun 18) ;133:155152.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in communication and social interaction as well as restricted interests and repetitive behaviors. The pathogenesis of ASD is not completely understood, but a growing body of research has demonstrated that the immune response may be a contributing factor in the etiology and/ or ontogeny of ASD. The aim of this study was to determine the expression levels of IL-1β, IL-1α, IL-4, IL-6, IL-17, TNF-α and TGF-β in peripheral blood mononuclear cells of children with ASD and healthy controls in order to determine the contributions of cytokines to ASD. Within the study timeframe, 195 children with ASDs (80.5% male) and 162 controls (73.6% male) were enrolled. Most children with ASD had a comorbid disorder (n = 114, 58.5%), with the most common diagnoses as Intellectual Developmental Disorder (IDD, n = 64, 32.8%) and ADHD (n = 64, 32.8%). The majority of children with ASD had severe autistic symptoms as evaluated via Childhood Autism Rating Scale (CARS, n = 130, 64.6%). The mean CARS score in the ASD sample was 40.8 (S.D. = 7.6). The patients with ASD were found to have significantly higher levels of IL-6 (p < 0.001) and significantly lower levels of IL-17 (p < 0.05, all Bonferroni corrected). Treatment tended to affect IL-4 levels. Lastly, discriminant function analysis (DFA) revealed that a combination of IL-6, IL-17 and IL-1α correctly classified 56.6% of cases. Despite extensive immunological evidence suggesting immune system aberrations, further research is required to clarify the relationship between immune profiles and ASD symptoms.

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9. Liao X, Li Y. Genetic associations between voltage-gated calcium channels and autism spectrum disorder : a systematic review. Mol Brain ;2020 (Jun 22) ;13(1):96.

OBJECTIVES : The present review systematically summarized existing publications regarding the genetic associations between voltage-gated calcium channels (VGCCs) and autism spectrum disorder (ASD). METHODS : A comprehensive literature search was conducted to gather pertinent studies in three online databases. Two authors independently screened the included records based on the selection criteria. Discrepancies in each step were settled through discussions. RESULTS : From 1163 resulting searched articles, 28 were identified for inclusion. The most prominent among the VGCCs variants found in ASD were those falling within loci encoding the α subunits, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, and CACNA1I as well as those of their accessory subunits CACNB2, CACNA2D3, and CACNA2D4. Two signaling pathways, the IP3-Ca(2+) pathway and the MAPK pathway, were identified as scaffolds that united genetic lesions into a consensus etiology of ASD. CONCLUSIONS : Evidence generated from this review supports the role of VGCC genetic variants in the pathogenesis of ASD, making it a promising therapeutic target. Future research should focus on the specific mechanism that connects VGCC genetic variants to the complex ASD phenotype.

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10. Lin BD, Colas F, Nijman IJ, Medic J, Brands W, Parr JR, van Eijk KR, Klauck SM, Chiocchetti AG, Freitag CM, Maestrini E, Bacchelli E, Coon H, Vicente A, Oliveira G, Pagnamenta AT, Gallagher L, Ennis S, Anney R, Bourgeron T, Luykx JJ, Vorstman J. The role of rare compound heterozygous events in autism spectrum disorder. Transl Psychiatry ;2020 (Jun 22) ;10(1):204.

The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, we sequenced 550 genes in 149 individuals with ASD and their deletion-transmitting parents. This approach allowed us to identify additional sequence variants occurring in the remaining allele of the deletion. Our main goal was to compare the rate of sequence variants in remaining alleles of deleted regions between probands and the deletion-transmitting parents. We also examined the predicted functional effect of the identified variants using Combined Annotation-Dependent Depletion (CADD) scores. The single nucleotide variant-deletion co-occurrence was observed in 13.4% of probands, compared with 8.1% of parents. The cumulative burden of sequence variants (n = 68) in pooled proband sequences was higher than the burden in pooled sequences from the deletion-transmitting parents (n = 41, X(2) = 6.69, p = 0.0097). After filtering for those variants predicted to be most deleterious, we observed 21 of such variants in probands versus 8 in their deletion-transmitting parents (X(2) = 5.82, p = 0.016). Finally, cumulative CADD scores conferred by these variants were significantly higher in probands than in deletion-transmitting parents (burden test, β = 0.13 ; p = 1.0 × 10(-)(5)). Our findings suggest that the compound heterozygosity described in the current study may be one of several mechanisms explaining variable penetrance of CNVs with known pathogenicity for ASD.

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11. Samanta D. An Updated Review of Tuberous Sclerosis Complex-Associated Autism Spectrum Disorder. Pediatr Neurol ;2020 (Jun 17)

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder caused by mutations of either the TSC1 or TSC2 gene. Various neuropsychiatric features, including autism, are prevalent in TSC. Recently, significant progress has been possible with the prospective calculation of the prevalence of autism in TSC, identification of early clinical and neurophysiological biomarkers to predict autism, and investigation of different therapies to prevent autism in this high-risk population. The author provides a narrative review of recent findings related to biomarkers for diagnosis of autism in TSC, as well as recent studies related to the management of TSC-associated autism. Further sophisticated modeling and analysis are required to understand the role of different models-tuber models, seizures and related neurophysiological factors models, genotype models, and brain connectivity models-to unravel the neurobiological basis of autism in TSC. Early neuropsychologic assessments may be beneficial in this high-risk group. Targeted intervention to improve visual skill, cognition, and fine motor skills with later addition of social skill training can be helpful. Multicenter, prospective studies are ongoing to identify if presymptomatic treatment with vigabatrin in patients with TSC can improve outcomes, including autism. Several studies indicated reasonable safety of everolimus in young children, and its potential application in high-risk infants with TSC, before the closure of the temporal window of permanent changes, maybe undertaken shortly.

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12. Tian LH, Wiggins LD, Schieve LA, Yeargin-Allsopp M, Dietz P, Aylsworth AS, Elias ER, Hoover-Fong JE, Meeks NJL, Souders MC, Tsai AC, Zackai EH, Alexander AA, Dowling NF, Shapira SK. Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder. Autism Res ;2020 (Jun 22)

Previous studies investigating the association between dysmorphology and cognitive, behavioral, and developmental outcomes among individuals with autism spectrum disorder (ASD) have been limited by the binary classification of dysmorphology and lack of comparison groups. We assessed the association using a continuous measure of dysmorphology severity (DS) in preschool children aged 2-5 years (322 with ASD and intellectual disability [ID], 188 with ASD without ID, and 371 without ASD from the general population [POP]). In bivariate analyses, an inverse association between DS and expressive language, receptive language, fine motor, and visual reception skills was observed in children with ASD and ID. An inverse association of DS with fine motor and visual reception skills, but not expressive language and receptive language, was found in children with ASD without ID. No associations were observed in POP children. These results persisted after exclusion of children with known genetic syndromes or major morphologic anomalies. Quantile regression models showed that the inverse relationships remained significant after adjustment for sex, race/ethnicity, maternal education, family income, study site, and preterm birth. DS was not associated with autistic traits or autism symptom severity, behaviors, or regression among children with ASD with or without ID. Thus, DS was associated with a global impairment of cognitive functioning in children with ASD and ID, but only with fine motor and visual reception deficits in children with ASD without ID. A better understanding is needed for mechanisms that explain the association between DS and cognitive impairment in children with different disorders. LAY SUMMARY : We examined whether having more dysmorphic features (DFs) was related to developmental problems among children with autism spectrum disorder (ASD) with or without intellectual disability (ID), and children without ASD from the general population (POP). Children with ASD and ID had more language, movement, and learning issues as the number of DFs increased. Children with ASD without ID had more movement and learning issues as the number of DFs increased. These relationships were not observed in the POP group. Implications are discussed.

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