Pubmed du 27/07/20

lundi 27 juillet 2020

1. Damiani S, Leali P, Nosari G, Caviglia M, Puci MV, Monti MC, Brondino N, Politi P. Association of Autism Onset, Epilepsy, and Behavior in a Community of Adults with Autism and Severe Intellectual Disability. Brain Sci ;2020 (Jul 27) ;10(8)

Autism spectrum disorders (ASDs) are hard to characterize due to their clinical heterogeneity. Whether epilepsy and other highly prevalent comorbidities may be related to specific subphenotypes such as regressive ASD (i.e., the onset of symptoms after a period of apparently typical development) is controversial and yet to be determined. Such discrepancies may be related to the fact that age, level of cognitive functioning, and environmental variables are often not taken into account. We considered a sample of 20 subjects (i) between 20 and 55 years of age, (ii) with severe/profound intellectual disability, (iii) living in the same rural context of a farm community. As a primary aim, we tested for the association between epilepsy and regressive ASD. Secondly, we explored differences in behavioral and pharmacological profiles related to the presence of each of these conditions, as worse behavioral profiles have been separately associated with both epilepsy and regressive ASD in previous studies. An initial trend was observed for associations between the presence of epilepsy and regressive ASD (odds ratio : 5.33 ; 95% CI : 0.62-45.41, p-value : 0.086). Secondly, subjects with either regressive ASD or epilepsy showed worse behavioral profiles (despite the higher pharmacotherapy they received). These preliminary results, which need to be further confirmed, suggest the presence of specific associations of different clinical conditions in subjects with rarely investigated phenotypes.

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2. Fredo ARJ, Thomas J, Prasanth T, Vineetha K, Langs G, Dauwels J. Diagnostic classification of autism using resting-state fMRI data improves with full correlation functional brain connectivity compared to partial correlation. J Neurosci Methods ;2020 (Jul 27):108884.

BACKGROUND : Autism Spectrum Disorder (ASD) is a neurodevelopmental disability with altered connectivity in brain networks. NEW METHOD : In this study, brain connections in Resting-state functional Magnetic Resonance Imaging (Rs-fMRI) of ASD and Typical Developing (TD) are analyzed by partial and full correlation methods such as Gaussian Graphical Least Absolute Shrinkage and Selection Operator (GLASSO), Max-Det Matrix Completion (MDMC), and Pearson Correlation Co-Efficient (PCCE). We investigated Functional Connectivity (FC) of ASD and TD brain from 238 functionally defined regions of interest. Furthermore, we constructed a series of feature sets by applying conditional random forests and conditional permutation importance. We built classifier models by Random Forest (RF), Oblique RF (ORF), Support Vector Machine (SVM), and Convolutional Neural Network (CNN) for each feature set. FC features are ranked based on p-value and we analyzed the top 20 FC features. RESULTS : We achieved a single-trial test accuracy of 72.5%, though MDMC-SVM and PCCE-CNN pipelines. Further, PCCE-CNN pipeline gives better average test accuracy (70.31%) and area under the curve (0.73) compared to other pipelines. We found that top-20 PCCE based FC features are from networks such as Dorsal Attention (DA), Cingulo-Opercular Task Control (COTC), somatosensory motor hand and subcortical. In addition, among top 20 PCCE features, many FC links are found between COTC and DA (4 connections) which helped to discriminate the ASD and TD. COMPARISON WITH EXISTING METHODS AND CONCLUSIONS : The generalized classifier models built in our study for highly heterogeneous participants perform better than previous studies with similar data sets and diagnostic groups.

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3. Goin-Kochel RP, Fombonne E, Mire SS, Minard CG, Sahni LC, Cunningham RM, Boom JA. Beliefs about causes of autism and vaccine hesitancy among parents of children with autism spectrum disorder. Vaccine ;2020 (Jul 27)

Vaccine hesitancy may be more common among parents of children with autism spectrum disorder (ASD). We examined factors associated with ASD-specific vaccine hesitancy among caregivers of children with ASD who participated in the SPARK study (Simons Foundation Powering Autism Research for Knowledge). 225 participants completed an online survey containing the Parent Attitudes About Childhood Vaccines (PACV) questionnaire (measure of vaccine hesitancy) and the Illness Perception Questionnaire revised for parents of children with ASD (IPQ-R-ASD ; measure of parents’ views about ASD). 65 participants (28.8%) were vaccine hesitant (PACV score ≥ 50) ; children of vaccine-hesitant parents (VHPs) were less likely to be first born (n = 27, 41.5%), had greater ASD-symptom severity (mean Social Communication Questionnaire score = 23.9, SD = 6.9), and were more likely to have experienced developmental regression (n = 27, 50.9%) or plateau (n = 37, 69.8%). Compared to non-hesitant parents, VHPs significantly more often endorsed accident/injury, deterioration of the child’s immune system, diet, environmental pollution, general stress, parents’ negative views, parents’ behaviors/decisions, parents’ emotional state, and vaccines as causes for ASD. VHPs also had higher scores on the Personal Control, Treatment Control, Illness Coherence, and Emotional Representations subscales of the IPQ-R than did non-hesitant parents. In the final model, ASD-related vaccine hesitancy was significantly associated with higher scores on the Emotional Representations subscale (OR = 1.13, p = 0.10), agreement with deterioration of the child’s immunity as a cause of ASD (OR = 12.47, p < 0.001), the child not having achieved fluent speech (OR = 2.67, p = 0.17), and the child experiencing a developmental plateau (OR = 3.89, p = 0.002). Findings suggest that a combination of child functioning and developmental history, as well as parents’ negative views about and their sense of control over ASD, influence vaccine hesitancy among parents of children with ASD.

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4. Kushak RI, Winter HS. Gut Microbiota and Gender in Autism Spectrum Disorders. Curr Pediatr Rev ;2020 (Jul 27)

Gender dimorphism in autism spectrum disorders (ASD) is well known ; however, the reasons for gender differences in autism are poorly understood. There are several hypotheses that might explain male prevalence in ASD including increased levels of androgens, "extreme male brain," and a combination of elevated levels of prenatal testosterone in conjunction with prenatal stress. In this review, differences in the gut microbiome and metabolome in humans and animals are described to explain gender differences in individuals with ASD, effects on behavior and social interactions and the impact of antibiotics, probiotics and fecal transplants. The bidirectional relationship between sex hormones and intestinal microbiota could also be relevant. Such interactions have been described in autoimmune diseases, but thus far are not implicated in ASD. We hypothesize that similar cross-talk exists in ASD between gut microbiota and sex hormones. Since intestinal microbiota may affect behavior, it is possible that prevalence of ASD in boys may be associated with more significant changes in the intestinal microbiome than in affected girls.

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5. Meyer R, Begemann M, Demuth S, Kraft F, Dey D, Schüler H, Busse S, Häusler M, Zerres K, Kurth I, Eggermann T, Elbracht M. Inherited cases of CNOT3-associated Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies. Clin Genet ;2020 (Jul 27)

De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies (IDDSADF, OMIM : # 618672)). The patients present with a variable degree of developmental delay and behavioral problems. To date, all reported disease causing variants occurred de novo and no parent-child transmission was observed. We report for the first time autosomal dominant transmissions of the CNOT3-associated developmental disorder in two unrelated families. The clinical characteristics in our patients match the IDDSADF features reported so far and suggest substantial variability of the phenotype within the same family.

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6. Paula CS, Cukier S, Cunha GR, Irarrázaval M, Montiel-Nava C, Garcia R, Rosoli A, Valdez D, Bordini D, Shih A, Garrido G, Rattazzi A. Challenges, priorities, barriers to care, and stigma in families of people with autism : Similarities and differences among six Latin American countries. Autism ;2020 (Jul 27):1362361320940073.

Approximately 6 million individuals with autism spectrum disorder live in Latin America. In order to strengthen autism spectrum disorder research collaborations and awareness in the region, the Latin American Autism Spectrum Network (Red Espectro Autista Latinoamerica) was constituted in 2015, comprising researchers and clinicians from the following six countries : Brazil Argentina, Chile, Uruguay, Venezuela, and the Dominican Republic. This first multisite study from the Red Espectro Autista Latinoamerica network aims to describe the challenges and priorities to identify barriers to care and to map stigma among families of individuals with autism spectrum disorder living in Latin America. A total of 2942 caregivers from these six countries completed an online survey showing that the main priorities were greater community awareness and improvements in the educational system for individuals with autism spectrum disorder. In addition to that, the main barriers to care were related to lack of structure, mainly waiting lists (50.2%), high treatment costs (35.2%), and lack of specialized services (26.1%). Stigma experienced by families was frequent : one third reported feeling discriminated against and helpless for having a child with autism spectrum disorder. Also, 48.8% of the caregivers declared financial problems, 47.4% of them had to cut down work hours, and 35.5% had to leave their jobs because of their child’s autism spectrum disorder. This is a pioneer study providing a description of the needs and challenges faced by families affected by autism spectrum disorder in Latin America, helping to build data-driven strategies at the national and regional levels.

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7. Ptomey LT, Walpitage DL, Mohseni M, Dreyer Gillette ML, Davis AM, Forseth B, Dean EE, Waitman LR. Weight status and associated comorbidities in children and adults with Down syndrome, autism spectrum disorder and intellectual and developmental disabilities. J Intellect Disabil Res ;2020 (Jul 27)

BACKGROUND : Little is known about body weight status and the association between body weight and common comorbidities in children and adults with Down syndrome (DS), autism spectrum disorder (ASD) and other intellectual and developmental disabilities (IDDs). METHODS : Data were extracted from the University of Kansas Medical Center’s Healthcare Enterprise Repository for Ontological Narration clinical integrated data repository. Measures included demographics (sex, age and race), disability diagnosis, comorbid health conditions, height, weight and body mass index percentiles (BMI%ile ; <18 years of age) or BMI (≥18 years of age). RESULTS : Four hundred and sixty-eight individuals with DS (122 children and 346 adults), 1659 individuals with ASD (1073 children and 585 adults) and 604 individuals with other IDDs (152 children and 452 adults) were identified. A total of 47.0% (DS), 41.9% (ASD) and 33.5% (IDD) of children had overweight/obese (OW/OB), respectively. Children with DS were more likely to have OW/OB compared with children with IDD or ASD [odds ratio (OR) = 1.91, 95% confidence interval (CI) : (1.49, 2.46) ; OR = 1.43, 95% CI : (1.19, 1.72)], respectively. A total of 81.1% (DS), 62.1% (ASD), and 62.4% (IDD) of adults were OW/OB, respectively. Adults with DS were more likely to have OW/OB compared with those with IDD [OR = 2.56, 95% CI : (2.16, 3.02)]. No significant differences were observed by race. In children with ASD, higher OW/OB was associated with significantly higher (compared with non-OW/OB) occurrence of sleep apnoea [OR = 2.94, 95% CI : (2.22, 3.89)], hypothyroidism [OR = 3.14, 95% CI : (2.17, 4.25)] and hypertension [OR = 4.11, 95% CI : (3.05, 5.54)]. In adults with DS, OW/OB was significantly associated with higher risk of sleep apnoea and type 2 diabetes [OR = 2.93, 95% CI : (2.10, 4.09) ; OR = 1.76, 95% CI : (1.11, 2.79) respectively]. Similarly, in adults with ASD and IDD, OW/OB was significantly associated with higher risk of sleep apnoea [OR = 3.39, 95% CI : (2.37, 4.85) and OR = 6.69, 95% CI : (4.43, 10.10)], type 2 diabetes [OR = 2.25, 95 % CI : (1.68, 3.01) and OR = 5.49, 95% CI : (3.96, 7.61)] and hypertension [OR = 3.55, 95% CI : (2.76, 4.57) and 3.97, 95% CI : (3.17, 4.97)]. CONCLUSION : Findings suggest higher rates of OW/OB in individuals with DS compared with ASD and IDD. Given the increased risk of comorbidities associated with the increased risk of OW/OB, identification of effective interventions for this special population of individuals is critical.

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8. Scheggi S, Guzzi F, Braccagni G, De Montis MG, Parenti M, Gambarana C. Targeting PPARα in the rat valproic acid model of autism : focus on social motivational impairment and sex-related differences. Mol Autism ;2020 (Jul 27) ;11(1):62.

BACKGROUND : The social motivational theory of autism spectrum disorder (ASD) focuses on social anhedonia as key causal feature of the impaired peer relationships that characterize ASD patients. ASD prevalence is higher in boys, but increasing evidence suggests underdiagnosis and undertreatment in girls. We showed that stress-induced motivational anhedonia is relieved by repeated treatment with fenofibrate (FBR), a peroxisome proliferator-activated receptor α (PPARα) agonist. Here, we used the valproic acid (VPA) model of ASD in rats to examine male and female phenotypes and assess whether FBR administration from weaning to young adulthood relieved social impairments. METHODS : Male and female rats exposed to saline or VPA at gestational day 12.5 received standard or FBR-enriched diet from postnatal day 21 to 48-53, when behavioral tests and ex vivo neurochemical analyses were performed. Phosphorylation levels of DARPP-32 in response to social and nonsocial cues, as index of dopamine D(1) receptor activation, levels of expression of PPARα, vesicular glutamatergic and GABAergic transporters, and postsynaptic density protein PSD-95 were analyzed by immunoblotting in selected brain regions. RESULTS : FBR administration relieved social impairment and perseverative behavior in VPA-exposed male and female rats, but it was only effective on female stereotypies. Dopamine D(1) receptor signaling triggered by social interaction in the nucleus accumbens shell was blunted in VPA-exposed rats, and it was rescued by FBR treatment only in males. VPA-exposed rats of both sexes exhibited an increased ratio of striatal excitatory over inhibitory synaptic markers that was normalized by FBR treatment. LIMITATIONS : This study did not directly address the extent of motivational deficit in VPA-exposed rats and whether FBR administration restored the likely decreased motivation to operate for social reward. Future studies using operant behavior protocols will address this relevant issue. CONCLUSIONS : The results support the involvement of impaired motivational mechanisms in ASD-like social deficits and suggest the rationale for a possible pharmacological treatment. Moreover, the study highlights sex-related differences in the expression of ASD-like symptoms and their differential responses to FBR treatment.

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9. Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC. Genome-wide detection of tandem DNA repeats that are expanded in autism. Nature ;2020 (Jul 27)

Tandem DNA repeats vary by the size and sequence of each unit (motif). When expanded, they have been associated with more than 40 monogenic disorders(1). Their involvement in complex disorders is largely unknown, as is the extent of their heterogeneity. Here, we interrogated genome-wide characteristics of tandem repeats with 2-20-bp motifs in 17,231 genomes of families with autism(2,3) and population controls(4). We found extensive polymorphism in motif size and sequence. Many correlated with cytogenetic fragile sites. At 2,588 loci, gene-associated tandem repeat expansions that were rare among population controls were significantly more prevalent among individuals with autism than their unaffected siblings, particularly in exons and near splice junctions and in genes related to nervous system development and cardiovascular system or muscle. Rare tandem repeat expansions had a prevalence of 23.3% in autism-affected children versus 20.7% in unaffected children, suggesting a collective contribution to autism risk of 2.6%. They included novel autism-linked tandem repeat expansions in DMPK and FXN, known for neuromuscular conditions, and in novel loci such as FGF14 and CACNB1. These were associated with lower IQ and adaptive ability. Our results revealed a strong contribution of tandem DNA repeat expansions to the genetic etiology and phenotypic complexity of autism.

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10. Vicedo M, Ilerbaig J. Autism in Baltimore, 1938-1943. J Autism Dev Disord ;2020 (Jul 27)

This paper examines the genesis of Leo Kanner’s 1943 seminal paper on autism. It shows that describing children as autistic or lacking affective contact with people was not new by this time. But Kanner’s proposal that infantile autism constituted a hitherto unidentified condition that was inborn and different from childhood schizophrenia was new. It also shows that Georg Frankl’s influence on Kanner was important, but Kanner did not misappropriate his ideas or his research. Kanner developed his views on the basis of his observations of several children, his knowledge of the literature on childhood conditions, and his interactions with many scholars.

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11. Wang J, Zhang P, Li W, Wen Q, Liu F, Xu J, Xu Q, Zhu D, Ye Z, Yu C. Right Posterior Insula and Putamen Volume Mediate the Effect of Oxytocin Receptor Polygenic Risk for Autism Spectrum Disorders on Reward Dependence in Healthy Adults. Cereb Cortex ;2020 (Jul 27)

Much evidence indicates the influence of the oxytocin receptor (OXTR) gene on autism spectrum disorders (ASDs), a set of disorders characterized by a range of deficits in prosocial behaviors, which are closely related to the personality trait of reward dependence (RD). However, we do not know the effect of the OXTR polygenic risk score for ASDs (OXTR-PRSASDs) on RD and its underlying neuroanatomical substrate. Here, we aimed to investigate associations among the OXTR-PRSASDs, gray matter volume (GMV), and RD in two independent datasets of healthy young adults (n = 450 and 540). We found that the individuals with higher OXTR-PRSASDs had lower RD and significantly smaller GMV in the right posterior insula and putamen. The GMV of this region showed a positive correlation with RD and a mediation effect on the association between OXTR-PRSASDs and RD. Moreover, the correlation map between OXTR-PRSASDs and GMV showed spatial correlation with OXTR gene expression. All results were highly consistent between the two datasets. These findings highlight a possible neural pathway by which the common variants in the OXTR gene associated with ASDs may jointly impact the GMV of the right posterior insula and putamen and further affect the personality trait of RD.

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12. Zakirova-Engstrand R, Hirvikoski T, Westling Allodi M, Roll-Pettersson L. Culturally diverse families of young children with ASD in Sweden : Parental explanatory models. PLoS One ;2020 ;15(7):e0236329.

BACKGROUND : Research suggests that families’ knowledge and cultural perceptions of autism spectrum disorder (ASD), and beliefs about its etiology and prognosis, can affect parents’ recognition of the first signs of autism in their children and influence help seeking and treatment decisions. OBJECTIVE : This study investigated explanatory models of autism among parents of young children with ASD in the multicultural context of Sweden. METHOD : Seventeen parents from diverse cultural, ethnic and linguistic backgrounds participated in semi-structured interviews. A deductive approach to qualitative content analysis was used to analyze data. Five domains of the Explanatory Model supplementary module of the Cultural Formulation Interview (CFI) were used as coding categories, operationalized as ’Parents’ understanding of autism’ ; ’Autism prototypes’ ; ’Causal explanations’ ; ’Course of autism’, and ’Help seeking and treatment expectations’. RESULTS : The results showed that parents’ prior knowledge of autism and experience of young children’s typical developmental trajectories, as well as the opinions of children’s grandparents and preschool teachers, affected symptom recognition and help seeking. There were differences in parents’ explanatory models before and after ASD diagnosis. Initial interpretations of the disorder included medical conditions and reaction to environmental influences, while genetic, supernatural/religious factors, and vaccinations were mentioned as definite causes after obtaining a clinical diagnosis. Parents also held multiple explanatory models, influenced by the views of family members and information obtained from media or from health care professionals. Parents’ treatment decisions included use of available state-funded support services, and complementary and alternative treatments. CONCLUSION : The results demonstrate the utility of the CFI’s Explanatory Model supplementary module in autism research. Implications for clinical practice are discussed.

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13. Zou M, Li D, Wang L, Li L, Xie S, Liu Y, Xia W, Sun C, Wu L. Identification of Amino Acid Dysregulation as a Potential Biomarker for Autism Spectrum Disorder in China. Neurotox Res ;2020 (Jul 27)

Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders accompanied by dysregulation of amino acid (AA) metabolism, and for which there are currently no reliable early diagnostic biomarkers. This study evaluated whether specific AAs can serve as biomarkers for screening ASD patients by analyzing the abundance 21 plasma AAs in 70 ASD patients and 70 control subjects by liquid chromatography-tandem mass spectrometry. We found significant differences between the two groups for eight of the AAs-namely, arginine, cysteine, homocysteine, histidine, methionine, serine, tyrosine, and valine. However, only homocysteine level was positively correlated with ASD symptom severity. Arginine, cysteine, histidine, and methionine were used to generate a predictive model in the Fisher discriminant analysis ; cross-validation of this model showed that 88.6% of individuals were correctly segregated into ASD and healthy subject groups with a sensitivity of 85.5% and specificity of 92.2%. The area under the receiver operating characteristic curve was 0.959 (0.927-0.991). Thus, detection of a combination of AAs is an effective method for distinguishing ASD patients from healthy subjects, which may be useful for the early diagnosis of ASD.

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