1. Bonardi A, Clifford CJ, Hadar N. {{A Structured Approach Using the Systematic Review Data Repository (SRDR): Building the Evidence for Oral Health Interventions in the Population With Intellectual and Developmental Disability}}. {Eval Rev}. 2016.
BACKGROUND: This review describes the methods used for a systematic review of oral health intervention literature in a target population (people with intellectual and developmental disability (I/DD)), which spans a broad range of interventions and study types, conducted with specialized software. OBJECTIVE: The aim of this article is to demonstrate the review strategy, using the free, online systematic review data repository (SRDR) tool, for oral health interventions aimed at reducing disparities between people with I/DD and the general population. RESEARCH DESIGN: Researchers used online title/abstract review (Abstrackr) and data extraction (SRDR) tools to structure the literature review and data extraction. A practicing clinician and an expert methodologist completed the quality review for each study. The data extraction team reported on the experience of using and customizing the SRDR. RESULTS: Using the SRDR, the team developed four extraction templates for eight key questions and completed extraction on 125 articles. CONCLUSIONS: This report discusses the advantages and disadvantages of using an electronic tool, such as the SRDR, in completing a systematic review in an area of growing research. This review provides valuable insight for researchers who are considering the use of the SRDR.
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2. Hedley D, Uljarevic M, Cameron L, Halder S, Richdale A, Dissanayake C. {{Employment programmes and interventions targeting adults with autism spectrum disorder: A systematic review of the literature}}. {Autism}. 2016.
Individuals with autism spectrum disorder face significant challenges entering the workforce; yet research in this area is limited and the issues are poorly understood. In this systematic review, empirical peer-reviewed studies on employment programmes, interventions and employment-related outcomes in individuals with autism spectrum disorder over 18 years with and without intellectual disability were identified and evaluated. The review was prefaced by a summary of previous systematic reviews in the area. Web of Science, Medline, PsychINFO, ERIC and Scopus databases were systematically searched through to October 2015. From 32,829 records identified in the initial search, 10 review and 50 empirical articles, comprising N = 58,134 individuals with autism spectrum disorder, were included in the review. Selected articles were organised into the following themes: employment experiences, employment as a primary outcome, development of workplace skills, non-employment-related outcomes, assessment instruments, employer-focused and economic impact. Empirical studies were limited by poor participant characterisation, small sample size and/or a lack of randomisation and use of appropriate controls. Poor conceptualisation and measurement of outcomes significantly limited study quality and interpretation. Future research will require a multidisciplinary and multifaceted approach to explore employment outcomes on the individual, the family system, co-workers and the employer, along with the impact of individual differences on outcome.
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3. Hillenmeyer S, Davis LK, Gamazon ER, Cook EH, Cox NJ, Altman RB. {{STAMS: STRING-Assisted Module Search for Genome Wide Association Studies and Application to Autism}}. {Bioinformatics}. 2016.
MOTIVATION: Analyzing genome wide association data in the context of biological pathways helps us understand how genetic variation influences phenotype and increases power to find associations. However, the utility of pathway-based analysis tools is hampered by undercuration and reliance on a distribution of signal across all of the genes in a pathway. Methods that combine genome wide association results with genetic networks to infer the key phenotype-modulating subnetworks combat these issues, but have primarily been limited to network definitions with yes/no labels for gene-gene interactions. A recent method (EW_dmGWAS) incorporates a biological network with weighted edge probability by requiring a secondary phenotype-specific expression dataset. In this paper, we combine an algorithm for weighted-edge module searching and a probabilistic interaction network in order to develop a method, STAMS, for recovering modules of genes with strong associations to the phenotype and probable biologic coherence. Our method builds on EW_dmGWAS but does not require a secondary expression dataset and performs better in six test cases. RESULTS: We show that our algorithm improves over EW_dmGWAS and standard gene-based analysis by measuring precision and recall of each method on separately identified associations. In the Wellcome Trust Rheumatoid Arthritis study, STAMS-identified modules were more enriched for separately identified associations than EW_dmGWAS (STAMS p-value 3.0×10-4; EW_dmGWAS- p-value=0.8). We demonstrate that the area under the Precision-Recall curve is 5.9 times higher with STAMS than EW_dmGWAS run on the Wellcome Trust Type 1 Diabetes data. AVAILABILITY: STAMS is implemented as an R package and is freely available at https://simtk.org/projects/stams CONTACT: rbaltman@stanford.edu.
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4. Little LM, Wallisch A, Salley B, Jamison R. {{Do early caregiver concerns differ for girls with autism spectrum disorders?}}. {Autism}. 2016.
Given that early caregiver concerns may be different for children who go on to receive a diagnosis of autism spectrum disorder versus another developmental disability, early caregiver concerns may differ for girls. Using a community-based sample of children (n = 241), we examined the extent to which gender differences may be related to caregiver concerns prior to a diagnosis of autism spectrum disorder or other developmental disability. Participants were matched on chronological age, and cognitive functioning did not differ across groups. Using caregiver concern data, results showed that boys with autism spectrum disorder showed increased social interaction concerns; overall, autism spectrum disorder-related concerns did not differentiate those with autism spectrum disorder from developmental disability. Children with developmental disability, however, showed increased general developmental concerns as compared to those with autism spectrum disorder. Young girls with autism spectrum disorder may demonstrate behaviors that are not particularly salient or concerning for parents; future research may investigate the behaviors that differentiate girls with autism spectrum disorder early in development.
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5. Povey C. {{Helping children on the autism spectrum deal with hospital admissions}}. {Arch Dis Child}. 2016.
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6. Prat CS, Stocco A, Neuhaus E, Kleinhans NM. {{Basal ganglia impairments in autism spectrum disorder are related to abnormal signal gating to prefrontal cortex}}. {Neuropsychologia}. 2016; 91: 268-81.
Research on the biological basis of autism spectrum disorder has yielded a list of brain abnormalities that are arguably as diverse as the set of behavioral symptoms that characterize the disorder. Among these are patterns of abnormal cortical connectivity and abnormal basal ganglia development. In attempts to integrate the existing literature, the current paper tests the hypothesis that impairments in the basal ganglia’s function to flexibly select and route task-relevant neural signals to the prefrontal cortex underpins patterns of abnormal synchronization between the prefrontal cortex and other cortical processing centers observed in individuals with autism spectrum disorder (ASD). We tested this hypothesis using a Dynamic Causal Modeling analysis of neuroimaging data collected from 16 individuals with ASD (mean age=25.3 years; 6 female) and 17 age- and IQ-matched neurotypical controls (mean age=25.6, 6 female), who performed a Go/No-Go test of executive functioning. Consistent with the hypothesis tested, a random-effects Bayesian model selection procedure determined that a model of network connectivity in which basal ganglia activation modulated connectivity between the prefrontal cortex and other key cortical processing centers best fit the data of both neurotypicals and individuals with ASD. Follow-up analyses suggested that the largest group differences were observed for modulation of connectivity between prefrontal cortex and the sensory input region in the occipital lobe [t(31)=2.03, p=0.025]. Specifically, basal ganglia activation was associated with a small decrease in synchronization between the occipital region and prefrontal cortical regions in controls; however, in individuals with ASD, basal ganglia activation resulted in increased synchronization between the occipital region and the prefrontal cortex. We propose that this increased synchronization may reflect a failure in basal ganglia signal gating mechanisms, resulting in a non-selective copying of signals to prefrontal cortex. Such a failure to prioritize and filter signals to the prefrontal cortex could result in the pervasive impairments in cognitive flexibility and executive functioning that characterize autism spectrum disorder, and may offer a mechanistic explanation of some of the observed abnormalities in patterns of cortical synchronization in ASD.
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7. Sturner R, Howard B, Bergmann P, Morrel T, Andon L, Marks D, Rao P, Landa R. {{Autism Screening With Online Decision Support by Primary Care Pediatricians Aided by M-CHAT/F}}. {Pediatrics}. 2016.
BACKGROUND AND OBJECTIVE: Autism spectrum disorders (ASDs) often go undetected in toddlers. The Modified Checklist for Autism in Toddlers (M-CHAT) With Follow-up Interview (M-CHAT/F) has been shown to improve detection and reduce over-referral. However, there is little evidence supporting the administration of the interview by a primary care pediatrician (PCP) during typical checkups. The goal of this study was to evaluate the feasibility, validity, and reliability of the M-CHAT/F by PCPs with online prompts at the time of a positive M-CHAT screen. DESIGN: Forty-seven PCPs from 22 clinics completed 197 M-CHAT/Fs triggered by positive M-CHAT screens via the same secure Web-based platform that parents used to complete M-CHATs before an 18- or 24-month well-child visit. A second M-CHAT/F was administered live or by telephone by trained research assistants (RAs) at the Kennedy Krieger Institute Center for Autism and Related Disorders. The Autism Diagnostic Observation Schedule, Second Edition, and the Mullen Scales of Early Learning were administered as criterion measures. Measures of agreement between PCPs and RAs were calculated, and measures of test performance compared. RESULTS: There was 86.6% agreement between PCPs and RAs, with a Cohen’s kappa of 0.72. Comparison of sensitivity, specificity, positive predictive value (PPV), and overall accuracy for M-CHAT/F between PCPs and RAs showed significant equivalence for all measures. Use of the M-CHAT/F by PCPs resulted in significant improvement in PPV compared with the M-CHAT alone. CONCLUSIONS: Minimally trained PCPs can administer the M-CHAT/F reliably and efficiently during regular well-child visits, increasing PPV without compromising detection.
