Pubmed du 06/07/18

Pubmed du jour

2018-07-06 12:03:50

1. Abbott P, Happe FG, Charlton RA. {{Exploratory Study of Executive Function Abilities Across the Adult Lifespan in Individuals Receiving an ASD Diagnosis in Adulthood}}. {J Autism Dev Disord}. 2018.

Little is known about cognition in autism spectrum disorder (ASD) across adulthood. We examined executive function abilities and autism traits in 134 adults receiving a first diagnosis of ASD. Participants aged 18-75 years with abilities in the normal range were assessed on executive function and self-report autism traits. Results suggest that for some abilities relying on speed and sequencing (Trails A and B; Digit Symbol), late-diagnosed individuals with ASD may demonstrate better performance than typical age-norms. On other executive measures (Digit Span, Hayling and Brixton tests) age-related correlations were similar to typical age-norms. Different domains of executive function may demonstrate different trajectories for ageing with ASD, with patterns of slower, accelerated or equivalent age-related change being observed across different measures.

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2. Brodeur DA, Stewart J, Dawkins T, Burack JA. {{Utilitarian Attention by Children with Autism Spectrum Disorder on a Filtering Task}}. {J Autism Dev Disord}. 2018.

The findings are evidence that persons with ASD benefit more than typically developing (TD) persons from spatial framing cues in focusing their attention on a visual target. Participants were administered a forced-choice task to assess visual filtering. A target stimulus was presented on a screen and flanker stimuli were presented simultaneously with or after the target, with varying stimuli onset asynchronies (SOAs). Regardless of SOA, TD children showed the expected distracting effects with slower reaction times (RTs) when flankers were at closer distances from the target. However, children with ASD displayed shorter RTs in the conditions in which the stimuli were presented simultaneously or with a short SOA. These findings are interpreted as reflecting utilitarian attention among children with ASD.

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3. Cai RY, Richdale AL, Uljarevic M, Dissanayake C, Samson AC. {{Emotion regulation in autism spectrum disorder: Where we are and where we need to go}}. {Autism Res}. 2018.

Emotion dysregulation is a common issue experienced by individuals with autism spectrum disorder (ASD) and has been associated with a wide range of negative mental and physical health outcomes. This commentary highlights the role emotion dysregulation plays in ASD by first considering the literature on emotion regulation (ER) in the general population and then summarizing the ER research in ASD. Based on the evaluation of previous research findings, we conclude that individuals with ASD have more ER difficulties and consistently self-report or demonstrate a less adaptive pattern of ER strategy use. In addition, the higher prevalence of internalizing and externalizing issues seen in ASD are associated with the greater habitual use of some ER strategies and less habitual use of others. Conceptual and methodological limitations are discussed, including the use of coping measures and single-method approaches, and ASD gender distribution. We propose a set of new directions for investigating ER in ASD, incorporating knowledge from other literatures on the role of flexibility in healthy adaptation, overlaps between flexibility and executive function deficits, the adaptive value of up-regulation of positive emotions, and the importance of emotional self-awareness. Increasing our capacity for identifying the mechanisms underlying co-morbid affective disorders can ultimately inform the design of effective interventions to maximize the wellbeing of individuals with ASD. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Research has shown that people diagnosed with autism tend to have difficulties with regulating their own emotions. This commentary article summarizes the main information from emotion regulation research conducted both in autism and in other populations. We make suggestions on how we can improve emotion regulation research in autism, with the ultimate goal being to use the learning gained from research to design effective interventions that can improve the wellbeing of people with autism.

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4. Cheng D, Xiao Q, Chen Q, Cui J, Zhou X. {{Dyslexia and dyscalculia are characterized by common visual perception deficits}}. {Developmental neuropsychology}. 2018; 43(6): 497-507.

A number of studies have investigated the cognitive deficits underlying dyslexia and dyscalculia. Yet, it remains unclear as to whether dyslexia and dyscalculia are associated with the common visual perception deficits. The current investigation analyzed cognitive performance in children with dyslexia, dyscalculia, comorbidity, and typically developing subjects. The results showed that children with dyslexia, dyscalculia and comorbidity exhibited common deficits in numerosity processing and visual perception. Furthermore, visual perception deficits accounted for deficits in numerosity processing in all three groups. The results suggest that visual perception deficits are a common cognitive deficit underlying both developmental dyslexia and dyscalculia.

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5. Dickerson AS, Dickerson AS. {{Brief Report: Texas School District Autism Prevalence in Children from Non-English-Speaking Homes}}. {J Autism Dev Disord}. 2018.

Previous studies have implicated migration and ethnicity as possible risk factors for autism spectrum disorder (ASD) in developed countries. Using Texas education data, we calculated district-reported ASD prevalence stratified by geographic region, with reported home language as a proxy for immigration. Prevalence ratios were also stratified by race. Prevalence estimates were significantly lower for White children from homes speaking Spanish and other non-English languages compared to those from English-speaking homes. This is the first study, to our knowledge, that investigates ASD prevalence of children from non-English-speaking households in a large sample. Barriers in identification of children of immigrants with ASD indicate that the increased district-reported prevalence seen in our study may only be a small indicator of a potentially larger prevalence.

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6. Famitafreshi H, Karimian M. {{Overview of the recent advances in pathophysiology and treatment for Autism}}. {CNS & neurological disorders drug targets}. 2018.

Autism is a developmental disorder that manifests itself in early childhood. Autism is characterized by inability to acquire social skills, repetitive behaviors and failure of speech and nonverbal communication development. Recent studies have shown that genetic mutations occur in majority of individuals with autism. These mutations cause a variety of disorders that ultimately lead to brain disorders. It is noteworthy that all mutation do not follow the same pattern. They encompass various kinds of mutations. Autism needs be treated during childhood as untreated patients usually do not progress to the later stages of development. In this regard, many studies have been performed and numerous treatments have been proposed to improve the outcome of this disease. In this review, we have discussed new advancements made in understanding the pathophysiology of autism. Furthermore, we have also discussed new treatments which have been proposed and have successfully translated affected children. Overall, it is concluded that new advances have largely helped these patients.

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7. Jackson JB, Steward SR, Roper SO, Muruthi BA. {{Support Group Value and Design for Parents of Children with Severe or Profound Intellectual and Developmental Disabilities}}. {J Autism Dev Disord}. 2018.

The purpose of this study was to interview parents of children with severe or profound intellectual and developmental disabilities to determine the perceived value of support groups and identify recommendations for support group design based on their experiences and feedback. Despite varied experiences with support groups, most parents indicated the value of support groups is in providing a place where parents can feel understood and both share and gather information. Parents recommended support groups be targeted for parents of children with similar disabilities and needs, have flexible structures and qualified leaders, and offer a wide variety of content in various formats. Given parental recommendations for support group design varied, summary recommendations addressing a wide range of preferences are provided.

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8. Karjalainen L, Rastam M, Paulson-Karlsson G, Wentz E. {{Do autism spectrum disorder and anorexia nervosa have some eating disturbances in common?}}. {Eur Child Adolesc Psychiatry}. 2018.

A possible overlap between autism spectrum disorder (ASD) and anorexia nervosa (AN), in terms of both behavioural and cognitive features, has led to new areas of research. The aim of the present study was to examine the occurrence of eating behaviours frequently seen in ASD among adolescents and young adults with AN. The participants were females within the age range 15-25 years: 36 with current AN (32 were followed up after 1 year), 19 with ASD, and 30 healthy females. The participants completed the SWedish Eating Assessment for Autism spectrum disorders (SWEAA) and the Autism Spectrum Quotient tool (AQ). AN groups had significantly higher SWEAA scores than the healthy comparison group, also when patients had gained weight. Typical autistic eating behaviours, such as selective eating, were more common in the AN groups than in the ASD group. This is the first time that SWEAA has been implemented in an AN population. Eating behaviours frequently seen in ASD seem to be frequent in AN and some remain also after weight gain.

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9. La Buissonniere-Ariza V, Wood JJ, Kendall PC, McBride NM, Cepeda SL, Small BJ, Lewin AB, Kerns C, Storch EA. {{Presentation and Correlates of Hoarding Behaviors in Children with Autism Spectrum Disorders and Comorbid Anxiety or Obsessive-Compulsive Symptoms}}. {J Autism Dev Disord}. 2018.

We investigated the presentation and correlates of hoarding behaviors in 204 children aged 7-13 with autism spectrum disorder (ASD) and comorbid anxiety or obsessive-compulsive disorder (OCD) symptoms. Approximately 34% of the sample presented at least moderate levels, and with 7% presenting severe to extreme levels of hoarding. Child gender predicted hoarding severity. In addition, child ASD-related social difficulties together with attention-deficit and hyperactivity disorder symptom severity positively predicted hoarding controlling for child gender and restricted and repetitive behaviors. Finally, child anxiety/OCD symptoms positively predicted hoarding, controlling for all other factors. These results suggest hoarding behaviors may constitute a common feature of pediatric ASD with comorbid anxiety/OCD, particularly in girls and children with greater social difficulties and comorbid psychiatric symptom severity.

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10. Lumaka A, Lubala TK, Race V, Peeters H, Lukusa P, Devriendt K. {{Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo}}. {Journal of community genetics}. 2018.

Screening for fragile X syndrome (FXS) is essential in children with developmental delay or intellectual disability (ID). In addition, using clinical screening checklists remains of high interest in resource-limited settings. We aimed to gain insight into the prevalence of FXS and the distribution of CGG alleles and to evaluate the usefulness of three checklists in specialized institutions in Kinshasa, DR Congo. We recruited 80 males and 25 females from six specialized institutions in Kinshasa and administered a questionnaire comprising items from the following FXS checklists: Hagerman, Maes, and Guruju. FMR1 CGG repeats were assessed for every patient. About 37% of patients were referable for FX testing based on Hagerman’s checklist, 35% for Maes’, and 43.80% for Guruju’s, but none of them was molecularly confirmed to have FXS. Thus, specificities were 62.86, 64.76, and 56.5%, respectively, for Hagerman, Maes, and Guruju, respectively. The mean CGG allele size was 28.55 +/- 2.83 (ranges, 17-48). The 29 CGG was the most frequent allele (24.61%). Thus, existing checklists should not be automatically applied to Congolese patients without adjustments. The distribution of CGG repeats and the number of CGG alleles are similar to other African studies.

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11. Maurin T, Lebrigand K, Castagnola S, Paquet A, Jarjat M, Popa A, Grossi M, Rage F, Bardoni B. {{HITS-CLIP in various brain areas reveals new targets and new modalities of RNA binding by fragile X mental retardation protein}}. {Nucleic acids research}. 2018; 46(12): 6344-55.

Fragile X syndrome (FXS), the most common form of inherited intellectual disability, is due to the functional deficiency of the fragile X mental retardation protein (FMRP), an RNA-binding protein involved in translational regulation of many messenger RNAs, playing key roles in synaptic morphology and plasticity. To date, no effective treatment for FXS is available. We searched for FMRP targets by HITS-CLIP during early development of multiple mouse brain regions (hippocampus, cortex and cerebellum) at a time of brain development when FMRP is most highly expressed and synaptogenesis reaches a peak. We identified the largest dataset of mRNA targets of FMRP available in brain and we defined their cellular origin. We confirmed the G-quadruplex containing structure as an enriched motif in FMRP RNA targets. In addition to four less represented motifs, our study points out that, in the brain, CTGKA is the prominent motif bound by FMRP, which recognizes it when not engaged in Watson-Crick pairing. All of these motifs negatively modulated the expression level of a reporter protein. While the repertoire of FMRP RNA targets in cerebellum is quite divergent, the ones of cortex and hippocampus are vastly overlapping. In these two brain regions, the Phosphodiesterase 2a (Pde2a) mRNA is a prominent target of FMRP, which modulates its translation and intracellular transport. This enzyme regulates the homeostasis of cAMP and cGMP and represents a novel and attractive therapeutic target to treat FXS.

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12. McChesney G, Toseeb U. {{Happiness, self-esteem, and prosociality in children with and without autism spectrum disorder: Evidence from a UK population cohort study}}. {Autism Res}. 2018.

High levels of childhood happiness, self-esteem, and prosociality are associated with positive social and emotional outcomes. Little is known about whether these constructs co-occur and how levels of co-occurrence are different in children with or without Autism Spectrum Disorder (ASD). Data was obtained from 13,285 11-year olds (408 with ASD) from a UK based prospective cohort study. Latent class analysis revealed five distinct classes: The « very low prosociality class » (with ASD 32% vs. without ASD 7%) was characterized by children who were happy and had high self-esteem but they were not prosocial. The « low happiness class » (with ASD 3% vs. without ASD 3%), included those children who had moderate self-esteem and were prosocial but were the least happy. Children in the « low to moderate positive functioning class » (with ASD 16% vs. without ASD 6%) were moderately happy and had the lowest self-esteem but were prosocial. The « moderate to high positive functioning class » (with ASD 17% vs. without ASD 23%) was characterized by children who were happy, had moderate self-esteem, and were very prosocial. The majority of children were in the « optimum class » (with ASD 31% vs. without ASD 62%), and were very happy, very prosocial with high self-esteem. Our findings demonstrate that for the majority of children in our sample, happiness, self-esteem, and prosociality co-occur. Furthermore, although as a group children with ASD have lower levels of positive functioning, our multivariable latent class approach suggests that nearly half of children with ASD are happy, have good levels self-esteem, and are prosocial. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: High levels of childhood happiness, self-esteem, and prosociality are associated with positive social and emotional outcomes. In this study, we investigated whether happiness, self-esteem and prosociality co-occur in children, and how possible co-occurrence differs between those with and without Autism Spectrum Disorder. We found that for the majority of children happiness, self-esteem, and prosociality co-occur. Furthermore, although as a group children with ASD have lower levels of positive functioning, our findings suggest that nearly half of children with ASD are happy, have good levels of self-esteem, and are prosocial.

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13. McLaughlin L, Keim SA, Adesman A. {{Wandering by Children with Autism Spectrum Disorder: Key Clinical Factors and the Role of Schools and Pediatricians}}. {J Dev Behav Pediatr}. 2018.

OBJECTIVE: To examine the clinical characteristics associated with wandering in children with autism spectrum disorder (ASD), the impact on families, and how medical and educational professionals address wandering. METHODS: An anonymous, online questionnaire was distributed through autism-related organizations to parents of children with ASD. The questionnaire asked about demographics, developmental diagnoses, past wandering behavior, and impact of wandering on parents. It also asked about the use of electronic tracking devices, requested Individualized Education Program (IEP) modifications, use of restraints and/or seclusion to prevent wandering at school, and receipt of guidance about wandering. Parents were included if they lived in the United States and had a child aged 4 to 18 years with ASD who had previously wandered. RESULTS: A total of 1454 parents who completed the questionnaire met the inclusion criteria. It was found that 22.4% of the children wandered from their home or yard and 24.6% from a public place more than monthly. Wandering concerns affected 73.3% of parents’ decisions to let their child spend time with friends or family in their absence. Furthermore, 48.6% and 58.7% of parents were moderately/very worried about their child wandering from home or yard or a public place, respectively. Over half of the parents (54.9%) parents requested IEP changes to address wandering. Only 33.3% of parents had previously received any counseling about wandering. CONCLUSION: Children with ASD and a history of elopement wandered at a fairly high frequency. Wandering concerns increased worry and anxiety for parents and negatively impacted household routines. The medical community is not adequately educating families about these risks. Pediatricians must become more aware of available prevention and mitigation strategies.

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14. Nevison C, Blaxill M, Zahorodny W. {{California Autism Prevalence Trends from 1931 to 2014 and Comparison to National ASD Data from IDEA and ADDM}}. {J Autism Dev Disord}. 2018.

Time trends in U.S. autism prevalence from three ongoing datasets [Individuals with Disabilities Education Act, Autism and Developmental Disabilities Monitoring Network, and California Department of Developmental Services (CDDS)] are calculated using two different methods: (1) constant-age tracking of 8 year-olds and (2) age-resolved snapshots. The data are consistent across methods in showing a strong upward trend over time. The prevalence of autism in the CDDS dataset, the longest of the three data records, increased from 0.001% in the cohort born in 1931 to 1.2% among 5 year-olds born in 2012. This increase began around ~ 1940 at a rate that has gradually accelerated over time, including notable change points around birth years 1980, 1990 and, most recently, 2007.

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15. Ormstad H, Bryn V, Saugstad OD, Skjeldal O, Maes M. {{Role of the immune system in autism spectrum disorders (ASD)}}. {CNS & neurological disorders drug targets}. 2018.

BACKGROUND: The evidence base supports that multifactorial and complex immune interactions play a role in autism spectrum disorders (ASD), but contradictory findings are also reported. OBJECTIVE: The aim of this selective review was to identify trends in the research literature on this topic, focusing on immunology and other aberrations with respect to the different ASD subtypes. METHODS: This selective review is based on original and review articles written in English and identified in literature searches of PubMed. RESULTS: Several studies have found that the risk of ASD is greater among children whose mothers suffered from autoimmune diseases while pregnant. Moreover, individuals with ASD show increased levels of antibodies that are specific for several specific proteins. Studies also show that mothers of children with ASD have antibodies against fetal brain proteins. There are also reports on associations between increased levels of proinflammatory cytokines and ASD. Finally, infections in mothers during pregnancy are linked to an increased risk of ASD. CONCLUSION: We propose that the large inconsistencies in findings among studies in the field are due to differences in subdiagnoses among the included children with ASD. Well-phenotyped ASD samples are needed to understand the biological and immunological mechanisms underpinning ASD and its subdiagnoses. Future research should apply new strategies to scrutinize the link between ASD and changes in immune responsivity. Important new research avenues are to investigate the associations (a) between different ASD phenotypes and aberrations in (auto)immune pathways and (b) between reduced natural regulatory autoimmune responses during pregnancy, which are in turn associated with increased oxidative and nitrosative stress in maternal blood and putative detrimental effects in the offspring.

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16. Xu L, Richman AR, Mitchell LC, Luo H, Jiang YH, Roy S, Floyd AE. {{Evaluating Web-based Educational Modules on Genetic Testing for Autism among Parents of Children with Autism}}. {American journal of health behavior}. 2018; 42(4): 3-12.

Objectives New genomic tests for Autism Spectrum Disorders (ASD) are being offered to children and families with ASD; however, these tests are underutilized by parents of children affected with ASD. Methods We designed, implemented and pilot-tested an educational intervention to enhance parental genetic knowledge and assist them to make informed decisions about genomic testing. We utilized a pre-/post-test design to evaluate genetic knowledge and test perceptions in a sample of parents of children with ASD. Results Fifty-three parents participated in our online training (5 modules) and completed pre- and post-assessments. Our surveys queried knowledge, attitudes, and intention to test. The knowledge section contained questions regarding autism, genes, and genetic testing for autism. The other 2 sections included attitudinal questions about testing as well as parents’ behavioral intention to seek genetic testing for autism. Conclusions Our results indicate that knowledge significantly improved following the intervention (p < .001). Although attitude and intention scores changed from pre-to post-assessment, these changes were not statistically significant. Our results demonstrate that this first-of-its-kind educational program designed for parents of children with ASD was effective at increasing parents' knowledge related to genomic testing for autism. Lien vers le texte intégral (Open Access ou abonnement)