Pubmed du 14/12/19

samedi 14 décembre 2019

1. Afroz KF, Alvina K. Maternal elevated salt consumption and the development of autism spectrum disorder in the offspring. J Neuroinflammation ;2019 (Dec 14) ;16(1):265.

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental condition with no known etiology or cure. Several possible contributing factors, both genetic and environmental, are being actively investigated. Amongst these, maternal immune dysregulation has been identified as potentially involved in promoting ASD in the offspring. Indeed, ASD-like behaviors have been observed in studies using the maternal immune activation mouse model. Furthermore, recent studies have shed light on maternal dietary habits and their impact on the gut microbiome as factors possibly facilitating ASD. However, most of these studies have been limited to the effects of high fat and/or high sugar. More recent data, however, have shown that elevated salt consumption has a significant effect on the immune system and gut microbiome, often resulting in gut dysbiosis and induction of pro-inflammatory pathways. Specifically, high salt alters the gut microbiome and induces the differentiation of T helper-17 cells that produce pro-inflammatory cytokines such as interleukin-17 and interleukin-23. Moreover, elevated salt can also reduce the differentiation of regulatory T cells that help maintaining a balanced immune system. While in the innate immune system, high salt can cause over activation of M1 pro-inflammatory macrophages and downregulation of M2 regulatory macrophages. These changes to the immune system are alarming because excessive consumption of salt is a documented worldwide problem. Thus, in this review, we discuss recent findings on high salt intake, gut microbiome, and immune system dysregulation while proposing a hypothesis to link maternal overconsumption of salt and children’s ASD.

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2. Amoako AN, Hare DJ. Non-medical interventions for individuals with Rett syndrome : A systematic review. J Appl Res Intellect Disabil ;2019 (Dec 13)

BACKGROUND : Research into Rett syndrome has included various medical interventions. Non-medical interventions are relatively under-researched. Recent technological communication intervention advances have contributed to the evidence base in Rett syndrome. METHOD : The Embase, PsycINFO and MEDLINE were systematically searched for peer-reviewed papers describing non-medical interventions for Rett syndrome. All identified papers were evaluated for methodological quality. RESULTS : Thirteen studies of adequate methodological quality were reviewed (across N = 60 participants). Interventions were primarily communication interventions including music, assistive technology, augmentative and alternative communication strategies, attentional training and cognitive rehabilitation training. All studies reported positive outcomes across communication, quality of life, brain stem activity, physical fitness and a reduction in stereotyped behaviour. However, methodological challenges to generalizability, standardization, lack of follow-up and/or small-N samples were common. CONCLUSIONS : The review highlights the paucity of high-quality research. Future research is needed to build on current research and improve validity and generalizability of interventions.

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3. Bechi M, Agostoni G, Buonocore M, Gritti D, Mascia M, Spangaro M, Bianchi L, Cocchi F, Guglielmino C, Bosia M, Cavallaro R. The association of autistic traits with Theory of Mind and its training efficacy in patients with schizophrenia. Schizophr Res Cogn ;2020 (Mar) ;19:100164.

Literature has recently identified a discrete subgroup of patients affected by schizophrenia that also present autistic traits (ATs), showing a peculiar cognitive, clinical and functional profile. Theory of Mind (ToM) represents a core, impaired feature in both schizophrenia and Autism Spectrum Disorder (ASD), ToM in patients with schizophrenia and ATs has yet to be investigated. Thus, this study aims, on the one hand, to assess differences among patients with and without ATs on clinical, cognitive and ToM abilities as well as in daily functioning ; on the other hand, to compare the efficacy on mentalizing abilities of a specific ToM training in these two groups. Ninety-six patients with schizophrenia were enrolled and underwent a broad cognitive, social-cognitive and functional assessment before and after the ToM training. ANOVAs revealed that patients with schizophrenia and ATs are more impaired in cognition, ToM, in premorbid and daily functioning as well as in clinical features, as compared to patients without ATs. This latter group also showed a general improvement in mentalizing abilities after ToM training, while patients with schizophrenia and ATs did not, with a significant time x group interaction on ToM abilities. These data shed new light on the relation among schizophrenia and ATs, highlighting that patients with these traits are highly impaired in ToM abilities. Thus, ATs seem to limit the effectiveness of ToM training, having implications in clinical and rehabilitative practice.

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4. Bitsika V, Sharpley CF. Self- vs Parent Reports of Generalised Anxiety Disorder Symptomatology in Mildly Impaired Girls with an Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Dec 12)

Previous data have suggested that parents of boys with autism spectrum disorder (ASD) may rate their sons’ generalised anxiety disorder (GAD) more severely than the boys do themselves. However, no reports have been published to date which examine this issue in a girls-only sample. This study investigated the extent and nature of mother-daughter agreement on ratings of GAD in a sample of 53 girls with an ASD with mild impairment, aged 6 to 17 years. Mothers rated their daughters’ GAD more severely than the girls did themselves, despite confounding effects from the girls’ medication and menarche status. Suggestions are made for the valid assessment of GAD in girls with an ASD.

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5. Gur A, Hijazi A, Rimmerman A. Caregiving of offspring with intellectual developmental disabilities in Israeli Jewish and Arab households : Financial and psychosocial differences. Res Dev Disabil ;2019 (Dec 10) ;96:103544.

BACKGROUND : This research responds to the lack of evidence-based knowledge regarding the psychosocial and financial gaps among caregivers of children with intellectual disabilities living in Jewish and Arab households. It examines the financial gaps and explores whether caregivers’ social economic status and households’ affiliation (Jewish vs. Arab) can explain the psychosocial variables such as levels of stress, social participation types and rates, and use of public services. METHOD : One hundred and twenty-five Jewish and Arab caregivers completed an income and expenditure survey, including out-of-pocket expenditures, a services use survey, a questionnaire regarding resources and stress levels, and a social participation scale. RESULTS : Arab households are more likely to have a low socioeconomic status (SES) than Jewish ones, characterized by lower per capita income, less spending, fewer out-of-pocket expenditures, and less ability to deal with an unexpected expense. In respect to psychosocial measures, Arab caregivers report lower use of public services than Jewish caregivers and lean more toward contact with relatives and religious participation than do Jewish caregivers. Caregivers’ social economic status and households’ affiliation do not have any interaction effect on psychosocial variables. CONCLUSIONS : Findings are discussed regarding research and practice.

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6. Harris JC. Advances in understanding self-determination, mindfulness approaches, and behavioral interventions, outcomes in autistic siblings and substance abuse in neurodevelopmental disorders. Curr Opin Psychiatry ;2019 (Dec 10)

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7. Hoch JD, Youssef AM. Predictors of Trauma Exposure and Trauma Diagnoses for Children with Autism and Developmental Disorders Served in a Community Mental Health Clinic. J Autism Dev Disord ;2019 (Dec 14)

Exposure to potentially traumatic events (PTEs), and trauma related diagnoses are poorly understood in autism spectrum disorders (ASD) and developmental disabilities (DD). The current study examined N = 7695 cases seen by a community mental health provider to compare exposure to PTEs and trauma-related diagnoses between children with ASD, children with DD, and children with other mental health diagnoses (e.g., depression). Predictors included demographics, exposure to negative life events, living situations, and subscales of the strengths and difficulties questionnaire (SDQ). Logistic regressions showed that diagnostic group, number and type of negative life events and locations lived, and SDQ subscale scores predicted trauma reports and trauma diagnoses. The findings suggest screener questions that may be useful across diagnostic groups.

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8. Hood SA, Olsen AE, Luczynski KC, Randle FA. Improving accepting and giving compliments with individuals with developmental disabilities. J Appl Behav Anal ;2019 (Dec 13)

Individuals with developmental disabilities, such as autism spectrum disorder, typically exhibit conversation skill deficits, with two prevailing deficits including giving and accepting compliments. The current study used an individualized approach to assess and teach accepting and giving compliments specific to performance, possession, and appearance with three adolescents and young adults with developmental disabilities. We taught these skills using behavioral skills training and prompting during conversations utilizing a multiple-baseline design across participants. We also observed generalization and treatment extension of the participants’ skills in conversations with adults not associated with teaching and in the absence of any teaching procedures. The results support the efficacy of the procedures used toward improving giving and accepting compliments within the context of a conversation. We discuss considerations to improve the social acceptability of and refinements to the teaching procedures and acquired skills.

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9. Hurwitz S, Ryan T, Kennedy DP. Developing Social Communication Skills Using Dual First-Person Video Recording Glasses : A Novel Intervention for Adolescents with Autism. J Autism Dev Disord ;2019 (Dec 12)

Adolescents with autism often experience pronounced difficulties with social communication, and novel interventions designed to improve core abilities are greatly needed. This study examines if providing immediate video feedback, an extension of video self-modeling, can aid adolescents with autism to self-identify strengths and irregularities from their social interactions. Using multiple baseline design across four participants, individuals engaged in naturalistic conversations wearing video recording glasses. During the intervention, videos were reviewed immediately and participants recognized when they were not following typical social-communicative convention. Based on observational data coded from videos, all four participants modified their behavior during subsequent conversations. Although adolescents with autism may hypothetically know to behave, viewing themselves on video may provide practical cues to support social insight and behavioral change.

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10. Jiao J, Zhang M, Yang P, Huang Y, Hu X, Cai J, Yang C, Situ M, Zhang H, Fu L, Guo K, Huang Y. Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample. J Mol Neurosci ;2019 (Dec 14)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high phenotypic and genetic heterogeneity. Whole-exome sequencing studies have shown that de novo single-nucleotide variations (SNVs) play an important role in sporadic ASD. The present study aimed to search for de novo SNVs using whole-exome sequencing in 59 unrelated Chinese ASD sporadic trios, and found 24 genes (including five reported ASD candidate genes CACNA1D, ACHE, YY1, TTN, and FBXO11) with de novo harmful SNVs. Five genes (CACNA1D, JAK2, ACHE, MAPK7, and PRKAG2) classified as "medium-confidence" genes were found to be related to ASD using the Phenolyzer gene analysis tool, which predicts the correlation between the candidate genes and the ASD phenotype. De novo SNVs in JAK2, MAPK7, and PRKAG2 were first found in ASD. Both JAK2 and MAPK7 were involved in the regulation of the MAPK signaling pathway. Gene co-expression and inter-gene interaction networks were constructed and gene expression data in different brain regions were further extracted, revealing that JAK2 and MAPK7 genes were associated with certain previously reported ASD genes and played an important role in early brain development. The findings of this study suggest that the aforementioned five reported ASD genes and JAK2 and MAPK7 may be related to ASD susceptibility. Further investigations of expression studies in cellular and animal models are needed to explore the mechanism underlying the involvement of JAK2 and MAPK7 in ASD.

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11. Kremkow JMD, Finke EH. The Effectiveness of a Distance Peer Mentor Training Program with Military Spouses with Children with Autism. J Autism Dev Disord ;2019 (Dec 13)

Several researchers have described a training for mentorship programs ; however, few studies have examined the effects of mentor training on mentor knowledge of communication strategies taught in the training. This investigation developed and tested a distance peer mentor training for military spouses with children with autism. Results indicated prospective military spouse mentors scored significantly higher on training assessments than those in the comparison group, demonstrating they acquired knowledge and skills from the online training. Further, military spouse mentors in the training group felt the training was useful and helped prepare them to mentor other military spouses. This pilot investigation demonstrated a brief, online peer mentor training may be used to train peer mentors.

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12. Laubscher E, Light J, McNaughton D. Effect of an application with video visual scene displays on communication during play : pilot study of a child with autism spectrum disorder and a peer. Augment Altern Commun ;2019 (Dec 13):1-10.

Children with autism spectrum disorder (ASD) and limited speech are at risk for exclusion from pretend play with their peers due in part to communication difficulties. The purpose of this pilot study was to examine the effect of an intervention package, consisting of tablet-based augmentative and alternative communication technology with video visual scene displays (video VSDs) and instruction, on communication between a child with ASD and a peer with typical development across three play activities. One dyad, consisting of the child with ASD and the peer, participated in this study. A multiple probe design across three play activities was used to evaluate the effect of the intervention on the number of symbolic communicative turns taken by the participant with ASD. At baseline, this participant demonstrated minimal symbolic communication related to play activities. Following the intervention, he demonstrated an increase in symbolic communicative turns across all three play activities, with a large overall effect size. The results of this study provide preliminary support for use of a video VSD intervention to support communication for children with ASD and limited speech during pretend play with their peers.

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13. Slanzi CM, Graziano M, D’Angelo G, Vollmer TR, Conine DE. Relative preferences for edible and leisure stimuli in children with autism : A replication in Italy. J Appl Behav Anal ;2019 (Dec 13)

Several studies have found that edible items tend to displace leisure items in multiple-stimulus preference assessments for individuals with developmental disabilities. One recent study (Conine & Vollmer, 2019) included screen-based technology devices in assessments and found that food items were less likely to displace leisure items and in some cases leisure items totally displaced edible items. The purpose of our study was to conduct a replication of Conine and Vollmer in Italy to evaluate cultural differences in food and leisure preferences. Results of our study were similar : For 44% of participants, at least one leisure item ranked above all edible items and leisure items displaced all edible items for 28% of participants. Participants in the present study showed a higher preference for leisure items or toys that were not screen-based technology devices, suggesting there may be cultural variation in the types of leisure items that are preferred.

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14. Wehmeyer ML. Self-determination in adolescents and adults with intellectual and developmental disabilities. Curr Opin Psychiatry ;2019 (Dec 12)

PURPOSE OF REVIEW : The importance of self-determination to wellbeing and life satisfaction has been established by research in motivation and education. The present review provides a synthesis of research in these areas at a time when the two lines of research are converging. RECENT FINDINGS : Research has established that youth and adults with intellectual and developmental disabilities (IDD) are not as self-determined as their nondisabled peers and that this negatively impacts the quality of their lives. Further, research has established the positive benefits of a focus on self-determination assessment and intervention for people with IDD. Recent studies illustrate the shifting focus to a life-course development perspective of self-determination and the alignment of assessment and interventions with that perspective. Research on self-determination and IDD outside of the United States has dramatically increased. SUMMARY : Research shows that people with IDD who are more self-determined achieve more positive school and adult outcomes and higher life satisfaction. Assessment of and interventions to promote self-determination have increasingly emphasized all people and are aligning with research in motivation and positive psychology. This provides a foundation for promoting greater community, school, and work inclusion.

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15. Werling AM, Grunblatt E, Oneda B, Bobrowski E, Gundelfinger R, Taurines R, Romanos M, Rauch A, Walitza S. High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability. J Neural Transm (Vienna) ;2019 (Dec 14)

Copy-number variants (CNVs), in particular rare, small and large ones (< 1% frequency) and those encompassing brain-related genes, have been shown to be associated with neurodevelopmental disorders like autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID). However, the vast majority of CNV findings lack specificity with respect to autistic or developmental-delay phenotypes. Therefore, the aim of the study was to investigate the size and frequency of CNVs in high-functioning ASD (HFA) without ID compared with a random population sample and with published findings in ASD and ID. To investigate the role of CNVs for the "core symptoms" of high-functioning autism, we included in the present exploratory study only patients with HFA without ID. The aim was to test whether HFA have similar large rare (> 1 Mb) CNVs as reported in ASD and ID. We performed high-resolution chromosomal microarray analysis in 108 children and adolescents with HFA without ID. There was no significant difference in the overall number of rare CNVs compared to 124 random population samples. However, patients with HFA carried significantly more frequently CNVs containing brain-related genes. Surprisingly, six HFA patients carried very large CNVs known to be typically present in ID. Our findings provide new evidence that not only small, but also large CNVs affecting several key genes contribute to the genetic etiology/risk of HFA without affecting their intellectual ability.

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