39 research outputs found

    Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study

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    Background: The increased male prevalence of autism spectrum disorder (ASD) may be mirrored by the early emergence of sex differences in ASD symptoms and cognitive functioning. The female protective effect hypothesis posits that ASD recurrence and symptoms will be higher among relatives of female probands. This study examined sex differences and sex of proband differences in ASD outcome and in the development of ASD symptoms and cognitive functioning among the high-risk younger siblings of ASD probands and low-risk children. Methods: Prior to 18 months of age, 1824 infants (1241 high-risk siblings, 583 low-risk) from 15 sites were recruited. Hierarchical generalized linear model (HGLM) analyses of younger sibling and proband sex differences in ASD recurrence among high-risk siblings were followed by HGLM analyses of sex differences and group differences (high-risk ASD, high-risk non-ASD, and low-risk) on the Mullen Scales of Early Learning (MSEL) subscales (Expressive and Receptive Language, Fine Motor, and Visual Reception) at 18, 24, and 36 months and Autism Diagnostic Observation Schedule (ADOS) domain scores (social affect (SA) and restricted and repetitive behaviors (RRB)) at 24 and 36 months. Results: Of 1241 high-risk siblings, 252 had ASD outcomes. Male recurrence was 26.7 % and female recurrence 10.3 %, with a 3.18 odds ratio. The HR-ASD group had lower MSEL subscale scores and higher RRB and SA scores than the HR non-ASD group, which had lower MSEL subscale scores and higher RRB scores than the LR group. Regardless of group, males obtained lower MSEL subscale scores, and higher ADOS RRB scores, than females. There were, however, no significant interactions between sex and group on either the MSEL or ADOS. Proband sex did not affect ASD outcome, MSEL subscale, or ADOS domain scores. Conclusions: A 3.2:1 male:female odds ratio emerged among a large sample of prospectively followed high-risk siblings. Sex differences in cognitive performance and repetitive behaviors were apparent not only in high-risk children with ASD, but also in high-risk children without ASD and in low-risk children. Sex differences in young children with ASD do not appear to be ASD-specific but instead reflect typically occurring sex differences seen in children without ASD. Results did not support a female protective effect hypothesis. Electronic supplementary material The online version of this article (doi:10.1186/s13229-015-0027-y) contains supplementary material, which is available to authorized users

    A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

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    Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data

    ISSN exercise & sport nutrition review: research & recommendations

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    Sports nutrition is a constantly evolving field with hundreds of research papers published annually. For this reason, keeping up to date with the literature is often difficult. This paper is a five year update of the sports nutrition review article published as the lead paper to launch the JISSN in 2004 and presents a well-referenced overview of the current state of the science related to how to optimize training and athletic performance through nutrition. More specifically, this paper provides an overview of: 1.) The definitional category of ergogenic aids and dietary supplements; 2.) How dietary supplements are legally regulated; 3.) How to evaluate the scientific merit of nutritional supplements; 4.) General nutritional strategies to optimize performance and enhance recovery; and, 5.) An overview of our current understanding of the ergogenic value of nutrition and dietary supplementation in regards to weight gain, weight loss, and performance enhancement. Our hope is that ISSN members and individuals interested in sports nutrition find this review useful in their daily practice and consultation with their clients

    Proceedings of the 3rd Biennial Conference of the Society for Implementation Research Collaboration (SIRC) 2015: advancing efficient methodologies through community partnerships and team science

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    It is well documented that the majority of adults, children and families in need of evidence-based behavioral health interventionsi do not receive them [1, 2] and that few robust empirically supported methods for implementing evidence-based practices (EBPs) exist. The Society for Implementation Research Collaboration (SIRC) represents a burgeoning effort to advance the innovation and rigor of implementation research and is uniquely focused on bringing together researchers and stakeholders committed to evaluating the implementation of complex evidence-based behavioral health interventions. Through its diverse activities and membership, SIRC aims to foster the promise of implementation research to better serve the behavioral health needs of the population by identifying rigorous, relevant, and efficient strategies that successfully transfer scientific evidence to clinical knowledge for use in real world settings [3]. SIRC began as a National Institute of Mental Health (NIMH)-funded conference series in 2010 (previously titled the “Seattle Implementation Research Conference”; $150,000 USD for 3 conferences in 2011, 2013, and 2015) with the recognition that there were multiple researchers and stakeholdersi working in parallel on innovative implementation science projects in behavioral health, but that formal channels for communicating and collaborating with one another were relatively unavailable. There was a significant need for a forum within which implementation researchers and stakeholders could learn from one another, refine approaches to science and practice, and develop an implementation research agenda using common measures, methods, and research principles to improve both the frequency and quality with which behavioral health treatment implementation is evaluated. SIRC’s membership growth is a testament to this identified need with more than 1000 members from 2011 to the present.ii SIRC’s primary objectives are to: (1) foster communication and collaboration across diverse groups, including implementation researchers, intermediariesi, as well as community stakeholders (SIRC uses the term “EBP champions” for these groups) – and to do so across multiple career levels (e.g., students, early career faculty, established investigators); and (2) enhance and disseminate rigorous measures and methodologies for implementing EBPs and evaluating EBP implementation efforts. These objectives are well aligned with Glasgow and colleagues’ [4] five core tenets deemed critical for advancing implementation science: collaboration, efficiency and speed, rigor and relevance, improved capacity, and cumulative knowledge. SIRC advances these objectives and tenets through in-person conferences, which bring together multidisciplinary implementation researchers and those implementing evidence-based behavioral health interventions in the community to share their work and create professional connections and collaborations

    Continuous and routine EEG in intensive care: utilization and outcomes, United States 2005-2009.

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    ObjectivesTo evaluate the effect of intensive care unit continuous EEG (cEEG) monitoring on inpatient mortality, hospital charges, and length of stay.MethodsA retrospective cross-sectional study was conducted using the Nationwide Inpatient Sample, a dataset representing 20% of inpatient discharges in nonfederal US hospitals. Adult discharge records reporting mechanical ventilation and EEG (routine EEG or cEEG) were included. cEEG was compared with routine EEG alone in association with the primary outcome of in-hospital mortality and secondary outcomes of total hospital charges and length of stay. Demographics, hospital characteristics, and medical comorbidity were used for multivariate adjustments of the primary and secondary outcomes.ResultsA total of 40,945 patient discharges in the weighted sample met inclusion criteria, of which 5,949 had reported cEEG. Mechanically ventilated patients receiving cEEG were younger than routine EEG patients (56 vs 61 years; p < 0.001). There was no difference in the 2 groups in income or medical comorbidities. cEEG was significantly associated with lower in-hospital mortality in both univariate (odds ratio = 0.54, 95% confidence interval 0.45-0.64; p < 0.001) and multivariate (odds ratio = 0.63, 95% confidence interval 0.51-0.76; p < 0.001) analyses. There was no significant difference in costs or length of stay for patients who received cEEG relative to those receiving only routine EEG. Sensitivity analysis showed that adjusting for diagnosis-related groups (DRGs) for any neurologic diagnoses, DRGs for neurologic procedures, and specific DRGs for epilepsy/convulsions did not substantially alter the association of cEEG with reduced inpatient mortality.ConclusionscEEG is favorably associated with inpatient survival in mechanically ventilated patients, without adding significant charges to the hospital stay

    Community-Based Participatory Research (CBPR): Towards Equitable Involvement of Community in Psychology Research

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    Community-based participatory research (CBPR) answers the call for more patient-centered, community-driven research approaches to address growing health disparities. CBPR is a collaborative research approach that equitably involves community members, researchers, and other stakeholders in the research process and recognizes the unique strengths that each bring. The aim of CBPR is to combine knowledge and action to create positive and lasting social change. With its origins in psychology, sociology, and critical pedagogy, CBPR has become a common research approach in the fields of public health, medicine, and nursing. Although it is well aligned with psychology’s ethical principles and research aims, it has not been widely implemented in psychology research. The present article introduces CBPR to a general psychology audience while considering the unique aims of and challenges in conducting psychology research. In this article, we define CBPR principles, differentiate it from a more traditional psychology research approach, retrace its historical roots, provide concrete steps for its implementation, discuss its potential benefits, and explore practical and ethical challenges for its integration into psychology research. Finally, we provide a case study of CBPR in psychology to illustrate its key constructs and implementation. In sum, CBPR is a relevant, important, and promising research framework that may guide the implementation of more effective, culturally appropriate, socially just, and sustainable community-based psychology research
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