1. Fenikile TS, Ellerbeck K, Filippi MK, Daley CM. {{Barriers to autism screening in family medicine practice: a qualitative study}}. {Prim Health Care Res Dev};2014 (Nov 4):1-11.
Aim We explored potential barriers to adoption of recommended screening for autism by family physicians at 18- and 24-month well-child visits. BACKGROUND: The American Academy of Pediatrics recommends early detection and intervention of autism through the use of a standardized autism-specific screening tool on all children at the 18- and 24-month well-child visits. However, not all family physicians screen for autism. METHODS: Three focus groups and six semi-structured interviews were conducted with 15 family physicians in the Kansas City metropolitan area. Verbatim transcripts were inductively coded; data were analyzed using standard text analysis. Findings Participants had differing views on the increased incidence of autism. Most participants attributed the increase to changes in diagnostic criteria. There was no consensus on the benefit of implementing universal screening for autism during the 18- or 24-month visit. Many preferred to identify potential problems through general developmental assessments and observations. No participants used specific screening tools for autism, and only one participant was aware of such a tool (M-CHAT). Lack of adequate training on child development and screening methods as well as limited availability of community-based resources to manage children with autism was seen as major barriers to routine screening. Suggested solutions included working toward a stronger evidence base, improving physician training and continuing education, and making systemic changes in healthcare. In conclusion, universal screening for autism at the 18- and 24-month visits is not widely accepted, nor is it implemented by family physicians.
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2. Harfterkamp M, Buitelaar JK, Minderaa RB, van de Loo-Neus G, van der Gaag RJ, Hoekstra PJ. {{Atomoxetine in Autism Spectrum Disorder: No Effects on Social Functioning; Some Beneficial Effects on Stereotyped Behaviors, Inappropriate Speech, and Fear of Change}}. {J Child Adolesc Psychopharmacol};2014 (Nov 4)
Abstract Objective: The objective of this study was to investigate the short-term treatment effects of atomoxetine on autism spectrum disorder (ASD) symptoms in children and adolescents with both ASD and attention-deficit/hyperactivity disorder (ADHD). Methods: A total of 97 patients 6-17 years of age, with ASD and ADHD, were treated with 1.2 mg/kg/day of atomoxetine during an 8 week double-blind placebo-controlled period. Here, we investigated effects on two parent-based secondary outcome measures, the Aberrant Behavior Checklist (ABC) and the Children’s Social Behavior Questionnaire (CSBQ). Results: After 8 weeks of double-blind treatment, atomoxetine administration was associated with significant treatment effects on the ABC subscales Hyperactivity, Inappropriate Speech, and Stereotypic Behavior, and on the CSBQ subscale Fear for Changes. Conclusions: Our study results indicate no beneficial effects of atomoxetine on social functioning. However, atomoxetine may ameliorate restricted and stereotyped behaviors and communication. This study has been registered in ClinicalTrials.gov ( www.clinicaltrials.gov ) under registration number NCT00380692.
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3. Main PA, Thomas P, Angley MT, Young R, Esterman A, King CE, Fenech MF. {{Lack of Evidence for Genomic Instability in Autistic Children as Measured by the Cytokinesis-Block Micronucleus Cytome Assay}}. {Autism Res};2014 (Nov 4)
Autism spectrum disorders are a set of neurodevelopmental disorders that are highly hereditable. Increased genomic instability has been observed in other heritable paediatric neurobiological disorders; therefore, the aim of our study was to test the hypothesis that DNA damage is increased in children with autism and that B vitamin status may explain variations in genome integrity between autistic and normal children. We compared 35 children with autism, 27 of their siblings without autism and 25 age- and gender-matched community controls for genomic stability using the cytokinesis-block micronucleus cytome (CBMN-cyt) assay, B vitamins and homocysteine, as well as autism-related behaviours. It was found that there were no differences in CBMN-cyt biomarkers between the three groups. Vitamin B2 was significantly raised in children with autism and their siblings compared with controls (P = 0.027 and P = 0.016 respectively) but there was no difference in other B vitamins or homocysteine. In conclusion, although replication using a larger cohort is needed, it appears unlikely that genomic instability is a feature of the aetiology of autism. We cannot rule out in utero effects or other types of DNA damage not measured by the CBMN-cyt assay. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Mussey JL, Travers BG, Klinger LG, Klinger MR. {{Decision-Making Skills in ASD: Performance on the Iowa Gambling Task}}. {Autism Res};2014 (Nov 4)
Decision making plays a key role in daily function, but little is known regarding how individuals with autism spectrum disorder (ASD) make decisions. The present studies examined decision making in persons with ASD using the Iowa Gambling Task (IGT), a computerized card game with the goal of earning money by deciding among decks of cards. To be successful, players need to figure out which decks are associated with winning and which are associated with losing money in the long run. Results of Study 1 indicated that participants with ASD made poorer decisions and showed slower learning of which decks earned more money compared with participants with typical development. Additionally, they made more frequent shifts between decks compared with participants with typical development. In Study 2, undergraduate students with typical development completed the IGT to examine whether instructing them to make frequent shifts between decks early in the IGT would negatively impact their decision making. Results of Study 2 suggested that when participants with typical development were required to make frequent shifts, they exhibited a slower rate of learning and poorer decision making, thus emulating participants with ASD in Study 1. The combined results suggest that the way that persons with ASD explore and attend to their environment may be related to poor decision making. Implications for cognitive learning styles are discussed. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Rosenberg A, Margolis LH, Umble K, Chewning L. {{Fostering Intentional Interdisciplinary Leadership in Developmental Disabilities: The North Carolina LEND Experience}}. {Matern Child Health J};2014 (Nov 4)
This study describes the effects of interdisciplinary leadership training on a retrospective cohort (2001-2009) of the University of North Carolina MCH Leadership Education in Neurodevelopmental and Related Disabilities (UNC-CH LEND) program, including LEND graduates who were selected to participate in a focused Interdisciplinary Leadership Development Program (ILDP) in addition to their LEND training. Specifically, the study examined graduates’ reports of the relationship between LEND training and their attitudes/beliefs about interdisciplinary practice, as well as their reported use of interdisciplinary skills in their post-fellowship practice settings. Using a post-test design, participants in the LEND and ILDP programs were contacted to complete an on-line survey. Using a Conceptual Model guided by EvaluLEAD, respondents were asked to rate the influence of the UNC-LEND training program on their attitudes/beliefs and skills using a 5-point Likert scale, as well as through open-ended descriptions. The 49 LEND respondents represented a 56 % overall response rate from years 2001-2009. ILDP participants reported greater agreement with interdisciplinary attitudes/beliefs and more frequent use of interdisciplinary skills than did the non-participants. Graduates of LEND as well as ILDP reported the influence of training through a range of qualitative responses. Response examples highlight the influence of LEND training to promote outcomes at the individual, organizational and systems level. Findings from this study illustrate that MCHB funded LEND training has a strong influence on the future employment and interdisciplinary practices of graduates for the MCH workforce as well as services for individuals with developmental disabilities, their families and systems of care.
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6. Tural S, Tekcan A, Kara N, Elbistan M, Guven D, Ali Tasdemir H. {{FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X}}. {Gynecol Endocrinol};2014 (Nov 4):1-5.
Abstract CGG repeat expansion in the FMR1 gene is associated with fragile X syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency. In this study, FMR1 gene mutation screening was carried out in 50 patients. Among them, 12(%24) were POF and 19 (%38) were Fragile-X. We also examined the parents of the Fragile-X patients. DNA was extracted from blood with kit procedure. To examine expansion of the fragile-X CGG repeat, TP-PCR assay was performed and all amplicons were evaluated on an ABI3130XL Genetic Analyzer System by Fragman analysis. The data were analyzed by Gene Mapper Program. As a result of this study, the patients were identified with the fragile-X whose FMR1 gene CGG alleles have been observed in normal range. However, in patients who were referred with premature ovarian failure, pre-mutation frequency was observed as 6.6%. Only limited study in Turkish population reported frequency of pre-mutation carrier in POF and Fragile-X. Detection of pre-mutation carrier is important for next generation to have healthy siblings. We emphasize that TP-PCR technique is clear, reliable, sensitive, easy and fast method to detect pre-mutation. However, full mutations have to be examined by the technique of Southern blot in the diagnosis of fragile-X.
