Pubmed du 14/03/19

jeudi 14 mars 2019

1. Ayaydin H, Takatak H. Autism spectrum disorder and beta thalassemia minor : A genetic link ?. The Turkish journal of pediatrics. 2018 ; 60(4) : 443-5.

Ayaydin H, Takatak H. Autism spectrum disorder and beta thalassemia minor : A genetic link ? Turk J Pediatr 2018 ; 60 : 443-445. Autism spectrum disorder (ASD) is characterized by persistent deficits in social interaction and communication, and by restricted and repetitive patterns of behaviors and interests. Beta-thalassemia minor (BTM) is a common genetic blood disorder in Turkey. BTM is a single-gene disease that causes a decrease in beta globin production. We describe a girl aged 4 years and 4 months referred to our department due to speech delay, inability to establish social communication and overactivity. She was diagnosed with ASD according to DSM-5 criteria and Beta-thalassemia minor. Although there have been case reports of BTM with the some psychiatric conditions, to the best of our knowledge there are none concerning comorbid ASD and BTM. The aim of this report is to describe a possible genetic association between ASD and BTM since they have a common link associated with chromosome 11.

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2. Bennabi M, Delorme R, Oliveira J, Fortier C, Lajnef M, Boukouaci W, Feugeas JP, Marzais F, Gaman A, Charron D, Ghaleh B, Krishnamoorthy R, Leboyer M, Tamouza R. Correction : Dectin-1 Polymorphism : A Genetic Disease Specifier in Autism Spectrum Disorders ?. PLoS One. 2019 ; 14(3) : e0214104.

[This corrects the article DOI : 10.1371/journal.pone.0137339.].

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3. Brown CC, Tilford JM, Payakachat N, Williams DK, Kuhlthau KA, Pyne JM, Hoefman RJ, Brouwer WBF. Measuring Health Spillover Effects in Caregivers of Children with Autism Spectrum Disorder : A Comparison of the EQ-5D-3L and SF-6D. PharmacoEconomics. 2019.

BACKGROUND AND OBJECTIVE : Healthcare interventions that improve the health of children with autism spectrum disorder (ASD) have the potential to affect the health of caregivers. This study compares the three-level EuroQoL-5 Dimension (EQ-5D-3L) and the Short Form-6 Dimension (SF-6D) in their ability to value such spillover effects in caregivers. METHODS : Clinical data collected from two Autism Treatment Network (ATN) sites was combined with survey data of caregivers of children diagnosed with ASD. Caregivers completed instruments by proxy describing child health and completed the EQ-5D-3L and SF-6D preference-weighted instruments to describe their own health. RESULTS : There was a strong correlation between the health utility scores of the two preference-weighted instruments (rho = 0.6172, p < 0.001) measuring caregiver health-related quality of life. There was a similar correlation between both the SF-6D and EQ-5D-3L scores with a previously validated care-related quality of life measure (Care-related Quality of Life instrument [CarerQol-7D]) (rho = 0.569, p < 0.001 and rho = 0.541, p < 0.001, respectively). The mean SF-6D scores for caregivers differed significantly in relation to four of the five child health or behavior measures whereas the EQ-5D-3L differed for only two of them. CONCLUSIONS : Health utility values of caregivers for children with ASD vary by the health characteristics of the child, suggesting significant potential for spillover effects. The comparison of the EQ-5D-3L and SF-6D demonstrated that both instruments can be used to estimate spillover effects of interventions to improve child health, but the SF-6D exhibited greater sensitivity to child health among children with ASD.

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4. Canning DA. Re : Congenital Abnormalities of the Male Reproductive System and Risk of Autism Spectrum Disorders. The Journal of urology. 2019 : 10109701JU000055465262672d8.

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5. Carter CJ. Autism genes and the leukocyte transcriptome in autistic toddlers relate to pathogen interactomes, infection and the immune system. A role for excess neurotrophic sAPPalpha and reduced antimicrobial Abeta. Neurochemistry international. 2019.

Prenatal and early childhood infections have been implicated in autism. Many autism susceptibility genes (206 Autworks genes) are localised in the immune system and are related to immune/infection pathways. They are enriched in the host/pathogen interactomes of 18 separate microbes (bacteria/viruses and fungi) and to the genes regulated by bacterial toxins, mycotoxins and Toll-like receptor ligands. This enrichment was also observed for misregulated genes from a microarray study of leukocytes from autistic toddlers. The upregulated genes from this leukocyte study also matched the expression profiles in response to numerous infectious agents from the Broad Institute molecular signatures database. They also matched genes related to sudden infant death syndrome and autism comorbid conditions (autoimmune disease, systemic lupus erythematosus, diabetes, epilepsy and cardiomyopathy) as well as to estrogen and thyrotropin responses and to those upregulated by different types of stressors including oxidative stress, hypoxia, endoplasmic reticulum stress, ultraviolet radiation or 2,4-dinitrofluorobenzene, a hapten used to develop allergic skin reactions in animal models. The oxidative/integrated stress response is also upregulated in the autism brain and may contribute to myelination problems. There was also a marked similarity between the expression signatures of autism and Alzheimer’s disease, and 44 shared autism/Alzheimer’s disease genes are almost exclusively expressed in the blood-brain barrier. However, in contrast to Alzheimer’s disease, levels of the antimicrobial peptide beta-amyloid are decreased and the levels of the neurotrophic/myelinotrophic soluble APP alpha are increased in autism, together with an increased activity of alpha-secretase. sAPPalpha induces an increase in glutamatergic and a decrease in GABA-ergic synapses creating and excitatory/inhibitory imbalance that has also been observed in autism. A literature survey showed that multiple autism genes converge on APP processing and that many are able to increase sAPPalpha at the expense of beta-amyloid production. A genetically programmed tilt of this axis towards an overproduction of neurotrophic/gliotrophic sAPPalpha and underproduction of antimicrobial beta-amyloid may explain the brain overgrowth and myelination dysfunction, as well as the involvement of pathogens in autism.

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6. Gulati S, Kaushik JS, Saini L, Sondhi V, Madaan P, Arora NK, Pandey RM, Jauhari P, Manokaran RK, Sapra S, Sharma S, Paul VK, Sagar R. Development and validation of DSM-5 based diagnostic tool for children with Autism Spectrum Disorder. PLoS One. 2019 ; 14(3) : e0213242.

Diagnostic and Statistical Manual of mental disorder-IV (DSM-IV) TR based INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) is an established instrument for the diagnosis of ASD in Indian subcontinent and low-middle income countries (LMIC). The introduction of DSM-5 necessitated revision of existing INDT-ASD tool to incorporate the DSM-5 related changes. This study was undertaken to develop and validate the DSM-5 based All India Institute of Medical Sciences (AIIMS)-Modified-INDT-ASD Tool. The modifications were done using Delphi method and included : (a) rearrangement of questions from the previous tool ; and (b) addition of new questions on sensory symptoms. The modified tool was validated against DSM-5 diagnostic criteria. In addition, receiver operating characteristic (ROC) curves were used to determine the cut-off for total score as compared to Childhood Autism Rating Scale (CARS) score to grade the severity of ASD. Two-hundred-twenty-five children (159 boys, median age = 47months) were enrolled. The modified tool demonstrated sensitivity of 98.4% and specificity of 91.7% to diagnose ASD. A score >/=14 on the tool was suggestive of severe ASD (CARS>36.5) with a sensitivity and specificity of 80% and 80.7% respectively [Area under the curve = 0.89]. AIIMS-Modified-INDT-ASD Tool is a simple and structured instrument based on DSM-5 criteria which can facilitate diagnosis of ASD with acceptable diagnostic accuracy.

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7. Guo Q, Ebihara K, Fujiwara H, Toume K, Awale S, Araki R, Yabe T, Dong E, Matsumoto K. Kami-shoyo-san ameliorates sociability deficits in ovariectomized mice, a putative female model of autism spectrum disorder, via facilitating dopamine D1 and GABAA receptor functions. Journal of ethnopharmacology. 2019.

ETHNOPHARMACOLOGICAL RELEVANCE : Kami-shoyo-san (KSS) is a Kampo formula used clinically for menopause-related symptoms in Japan. However, the effect of KSS on autism spectrum disorder (ASD), a developmental disorder with a higher prevalence in males than in females, has not been reported yet. AIM OF THE STUDY : It is accepted generally that dysfunction in the GABAergic system is associated with pathogenesis of ASD. In our previous study, a decrease in brain allopregnanolone (ALLO), a positive allosteric GABAA receptor modulator, induced ASD-like symptoms such as impaired sociability-related performance and increased repetitive self-grooming behavior in male mice, and that KSS ameliorated these behavioral abnormalities via GABAA receptor- and dopamine D1 receptor-mediated mechanisms. In this study, to better understand a gender difference in the prevalence of ASD, we examined whether dissection of ovary (OVX), a major organ secreting progesterone in females, causes ASD-like behaviors in a manner dependent on brain ALLO levels, and if so, how KSS affects the behaviors. MATERIALS AND METHODS : Six-week-old ICR female mice received ovariectomy, and KSS (74mg/kg and 222mg/kg, p.o.) were treated before 1h starting each behavioral test. The sociability, social anxiety-like behavior, and self-grooming behavior were analyzed by the resident-intruder test, mirror chamber test, and open field test, respectively. After finishing the behavioral experiment, the ALLO content in the brain was measured by ELISA. Furthermore, we examined the effects of OVX on the neuro-signaling pathways in the prefrontal cortex and striatum by Western blotting. RESULTS : The results revealed that OVX induced sociability deficits and social anxiety-related behaviors, but not repetitive self-grooming behavior, and that these behavioral changes were accompanied not only by a decrease of brain ALLO levels, but also by impairment of CREB- and CaMKIIalpha-mediated neuro-signaling in the prefrontal cortex. Moreover, the administration of KSS had no effect on the brain ALLO level, but significantly ameliorated the OVX-induced behavioral and neurochemical changes via facilitation of GABAA receptor and dopamine D1 receptor-mediated neurotransmission. CONCLUSIONS : These findings suggest that a decrease in gonadal hormone-derived ALLO plays a major role in ASD-like behaviors in female mice and that KSS is beneficial for the treatment of ASD in females.

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8. Hu X, Lee GT, Tsai YT, Yang Y, Cai S. Comparing Computer-Assisted and Teacher-Implemented Visual Matching Instruction for Children with ASD and/or Other DD. J Autism Dev Disord. 2019.

This paper compared the effectiveness and efficiency of using computer-assisted instruction (CAI) and teacher-implemented instruction (TII) to teach visual matching skills to students with autism spectrum disorder and/or other developmental disabilities. Four school-aged students participated in this study with an alternating treatment design. The CAI incorporated discrete trial instruction with the gesture-tracking application, while the TII involved traditional one-to-one instruction using flashcards. The results indicated that all students acquired the target matching skills with generalization to similar untaught skills and maintained acquired skills at a high level for up to 5 weeks under both CAI and TII. Both CAI and TII were effective. However, CAI was more efficient than TII in regards to the prompts provided and the duration of instructional sessions. CAI also resulted in more student engagement in independent learning.

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9. Krol ME, Ferenc K. Silent shapes and shapeless sounds : the robustness of the diminished crossmodal correspondences effect in autism spectrum conditions. Psychological research. 2019.

We performed a registered replication of the Oberman and Ramachandran (Soc Neurosci 3(3-4):348-355, 2008) study on the ’kiki/bouba’ effect in autism spectrum conditions (ASC). The aim of the study was to test the robustness of the diminished crossmodal correspondences effect in autism, but also to verify whether this effect is not an artifact of differences in intelligence. We tested a Polish-speaking sample of 21 participants with ADOS-confirmed autism spectrum conditions (mean age 15.90) and 21 age- (mean age 15.86), sex- and IQ-matched neurotypical control participants. Procedure closely followed the replicated study. Participants’ task was to match five pairs of unfamiliar words and shapes. Matching words and shapes had similar supramodal characteristics that allowed the match. We report partial replication of the diminished ’kiki/bouba’ effect in individuals with ASC compared to the neurotypical control group. However, we found that nonverbal intelligence also significantly contributed to task performance, but only in participants with autism, suggesting a compensatory role of intelligence. Finally, the effect of autism severity (measured by ADOS classification) was significant-crossmodal correspondences were weaker in individuals with autism, compared to those with autism spectrum diagnosis.

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10. Lee M, Nayar K, Maltman N, Hamburger D, Martin GE, Gordon PC, Losh M. Understanding Social Communication Differences in Autism Spectrum Disorder and First-Degree Relatives : A Study of Looking and Speaking. J Autism Dev Disord. 2019.

This study examined narrative ability in ASD and parents across two contexts differing in structure and emotional content, and explored gaze patterns that may underlie narrative differences by presenting narrative tasks on an eye tracker. Participants included 37 individuals with ASD and 38 controls, 151 parents of individuals with ASD and 63 parent controls. The ASD and ASD parent groups demonstrated lower narrative quality than controls in the less structured narrative task only. Subtler, context-dependent differences emerged in gaze and showed some associations with narrative quality. Results indicate a narrative ability profile that may reflect genetic liability to ASD, and subtle links between visual attention and complex language skills that may be influenced by ASD genetic risk.

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11. Melogno S, Pinto MA, Scalisi TG, Orsolini M, Tarani L, Di Filippo G. Reasoning on Figurative Language : A Preliminary Study on Children with Autism Spectrum Disorder and Klinefelter Syndrome. Brain Sci. 2019 ; 9(3).

In this study we explored metaphor and idiom competencies in two clinical populations, children with autistic spectrum disorder (ASD) and children with Klinefelter syndrome (KS), (age range : 9(-)12), compared to typically developing (TD) children of the same age. These three groups were tested with two multiple-choice tests assessing idiom comprehension through iconic and verbal alternatives and a metaphor comprehension test composed of novel, physical-psychological metaphors, requesting verbal explanations. To these instruments, another test was added, assessing basic sentence comprehension. Performances on the different linguistic tasks were examined by means of discriminant analysis which showed that idiom comprehension had a very small weight in distinguishing children with ASD from TD controls, whereas metaphor explanation did distinguish them. This study suggests that figurative language comprehension is not a "core deficit" per se in individuals with ASD. Only when the task requires to explicitly construct and explain a semantic mapping between the two terms of a metaphor does the performance of children with ASD significantly deviate from the typical population. These results are interpreted in terms of a difficulty in children with ASD and KS with complex cognitive and linguistic processes and also in relation with clinical assessment.

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12. Pal R, Bhattacharya A. Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells. Brain Sci. 2019 ; 9(3).

The most conserved molecular phenotype of Fragile X Syndrome (FXS) is aberrant protein synthesis. This has been validated in a variety of experimental model systems from zebrafish to rats, patient-derived lymphoblasts and fibroblasts. With the advent of personalized medicine paradigms, patient-derived cells and their derivatives are gaining more translational importance, not only to model disease in a dish, but also for biomarker discovery. Here we review past and current practices of measuring protein synthesis in FXS, studies in patient derived cells and the inherent challenges in measuring protein synthesis in them to offer usable avenues of modeling this important metabolic metric for further biomarker development.

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13. Roidi MLR, Grange F, Cozzi F, Pari E, Toshimori K, Ripamonti E. Parents’ perception of health care services for girls with Rett syndrome. Child Care Health Dev. 2019.

BACKGROUND : Rett syndrome (RTT) is a severe neurodevelopmental disorder, implying impairment and disability across several domains. METHOD : We investigated parents’ perception of the caregiving process in a sample of 55 mothers and fathers of girls with RTT using the MPOC-20 questionnaire. The association of parents’ satisfaction with clinical variables has also been explored. RESULTS : We obtained intermediate levels of satisfaction on the MPOC-20 Coordinated and Comprehensive Care and Respectful and Supportive Care scales. The performance was lower on the scales Providing General Information, and Providing Specific Information. Mothers’ assessment was not associated with clinical variables such as walking disability, presence of scoliosis or epilepsy. For children with greater degree of walking impairment, fathers expressed the need of having more information available. CONCLUSIONS : While parents seemed satisfied of the caregiving process, clinicians should put more emphasis on their need of receiving general and specific information on RTT along the entire rehabilitation program.

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14. Smith H, Carter AS, Blaser E, Kaldy Z. Successful attentional set-shifting in 2-year-olds with and without Autism Spectrum Disorder. PLoS One. 2019 ; 14(3) : e0213903.

The development of executive function is necessary for flexible and voluntary control of behavior. Deficits in executive function are purported to be a primary cause of behavioral inflexibility-a core clinical symptom-in Autism Spectrum Disorder (ASD). Attentional set-shifting has traditionally been measured with the Dimensional Change Card Sort, however, this task requires following verbal instructions. Here, we used a novel visual search task that does not require verbal instructions in conjunction with eye-tracking to test attentional set-shifting in 2-year-old toddlers diagnosed with ASD (N = 29) and chronological age-matched typically developing controls (N = 30). On each trial, a relevant and an irrelevant target were embedded in a set of feature-conjunction distractors, and toddlers were tasked with searching for the relevant target. Critically, after a set of trials the targets switched roles (i.e., the previously relevant target became irrelevant, and the previously relevant target became irrelevant). We measured visual search performance prior to and following a target switch. We found that both groups of toddlers could readily switch targets, and found strikingly similar performance between typically developing toddlers and toddlers with ASD. Our results challenge the centrality of deficits in attentional set-shifting to early behavioral inflexibility in ASD.

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15. Varma M, Paskov KM, Jung JY, Sierra Chrisman B, Stockham NT, Washington PY, Wall DP. Outgroup Machine Learning Approach Identifies Single Nucleotide Variants in Noncoding DNA Associated with Autism Spectrum Disorder. Pacific Symposium on Biocomputing Pacific Symposium on Biocomputing. 2019 ; 24 : 260-71.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder affecting 1 in 59 children. While noncoding genetic variation has been shown to play a major role in many complex disorders, the contribution of these regions to ASD susceptibility remains unclear. Genetic analyses of ASD typically use unaffected family members as controls ; however, we hypothesize that this method does not effectively elevate variant signal in the noncoding region due to family members having subclinical phenotypes arising from common genetic mechanisms. In this study, we use a separate, unrelated outgroup of individuals with progressive supranuclear palsy (PSP), a neurodegenerative condition with no known etiological overlap with ASD, as a control population. We use whole genome sequencing data from a large cohort of 2182 children with ASD and 379 controls with PSP, sequenced at the same facility with the same machines and variant calling pipeline, in order to investigate the role of noncoding variation in the ASD phenotype. We analyze seven major types of noncoding variants : microRNAs, human accelerated regions, hypersensitive sites, transcription factor binding sites, DNA repeat sequences, simple repeat sequences, and CpG islands. After identifying and removing batch effects between the two groups, we trained an l1-regularized logistic regression classifier to predict ASD status from each set of variants. The classifier trained on simple repeat sequences performed well on a held-out test set (AUC-ROC = 0.960) ; this classifier was also able to differentiate ASD cases from controls when applied to a completely independent dataset (AUC-ROC = 0.960). This suggests that variation in simple repeat regions is predictive of the ASD phenotype and may contribute to ASD risk. Our results show the importance of the noncoding region and the utility of independent control groups in effectively linking genetic variation to disease phenotype for complex disorders.

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16. Watkins L, Ledbetter-Cho K, O’Reilly M, Barnard-Brak L, Garcia-Grau P. Interventions for students with autism in inclusive settings : A best-evidence synthesis and meta-analysis. Psychological bulletin. 2019.

Students with autism spectrum disorder (ASD) are increasingly educated alongside typically developing peers in regular education environments. These students have impairments that may hinder their success in inclusive school settings and require individualized supports to improve outcomes. The purpose of this meta-analysis and best-evidence synthesis is to examine the characteristics of interventions for students with ASD in inclusive settings, offer quantitative analysis of intervention effects, examine potential moderating variables that influence outcomes, analyze the social validity of these interventions, and provide recommendations for practice and future research. The 28 included studies met the What Works Clearinghouse standards for group design and single-case design research. Studies focused mostly on social communication skills, produced moderate to large effects, and were generally found to be socially valid. Function-based interventions, visual supports, self-monitoring strategies, and peer-mediated interventions resulted in mostly large effects, and teacher delivered interventions produced the largest overall effects. More high-quality studies for students with ASD in inclusive school settings are needed to advance evidence-based practice for this population. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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17. Zlomke KR, Jeter K. Comparative Effectiveness of Parent-Child Interaction Therapy for Children with and Without Autism Spectrum Disorder. J Autism Dev Disord. 2019.

Youth with autism spectrum disorder (ASD) often display disruptive behavior and noncompliance. Disruptive behavior in youth with ASD may limit their participation in educational and therapeutic activities and impact family functioning. Several evidence-based interventions are available for typically developing children, such as Parent-Child Interaction Therapy (PCIT). The current study examined the comparative effectiveness of PCIT for youth with ASD and without ASD. Results indicate that PCIT significantly improves parent-reported disruptive behavior in children with ASD at levels comparable to children without ASD. Additionally, improvements in ASD-related symptoms were noted for youth with ASD. These findings support the use of PCIT for children with ASD and provide clinicians with an evidence-based tool to address disruptive behavior in a wide spectrum of presenting children.

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