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Soares N.S.,Autism and Developmental Medicine Institute | Baum R.A.,Developmental Behavioral Pediatrics | Frick K.D.,Johns Hopkins Carey Business School
Journal of Developmental and Behavioral Pediatrics | Year: 2015

Experience and available research suggest that Developmental Behavioral Pediatric (DBP) practice is both complex and variable. Variability involves multiple aspects of DBP care, from activities before the visit (e.g. triage and collecting information) to activities during (e.g. history taking and testing) and after the visit (e.g. care coordination). Together these activities represent workflow, a series of clinical events by which health care is delivered. In complex systems, workflow variation often suggests the presence of inefficiency or inconsistent quality. Given the current environment of increasing health care costs and an increasing focus on quality, DBP practitioners must be mindful of these concepts for the field of DBP to remain viable. In order to characterize current DBP practice and identify common challenges, a workshop was developed with the ultimate goal of identifying potential solutions for improving both quality and efficiency. This paper summarizes the workshop findings and proposes future directions to foster improvements in DBP workflow. © 2014 Lippincott Williams and Wilkins.

Taylor C.M.,Vanderbilt University | Taylor C.M.,Autism and Developmental Medicine Institute | Vehorn A.,Vanderbilt University | Noble H.,Vanderbilt University | And 3 more authors.
Journal of Autism and Developmental Disorders | Year: 2014

The goal of the current study was to develop and pilot the utility of two simple internal response bias metrics, over-reporting and under-reporting, in terms of additive clinical value within common screening practices for early detection of autism spectrum disorder risk. Participants were caregivers and children under 36 months of age (n = 145) participating in first-time diagnostic appointments across our clinical research center due to developmental concerns. Caregivers were asked to complete the Modified Checklist for Autism in Toddlers (MCHAT) as well as a questionnaire embedding six response bias indicator questions. These questions were items that in previous clinical studies had been endorsed by an overwhelming majority of parents within clinically identified populations. Results indicated that removal of self-reports indicative of potential response bias dramatically reduced both false positives and false negatives on the MCHAT within this sample. This suggests that future work developing internal metrics of response bias may be promising in addressing limits of current screening measures and practices. © 2014 Springer Science+Business Media.

Turner T.N.,Johns Hopkins University | Turner T.N.,University of California at Los Angeles | Sharma K.,Johns Hopkins University | Oh E.C.,Duke University | And 28 more authors.
Nature | Year: 2015

Autism is a multifactorial neurodevelopmental disorder affecting more males than females; consequently, under a multifactorial genetic hypothesis, females are affected only when they cross a higher biological threshold. We hypothesize that deleterious variants at conserved residues are enriched in severely affected patients arising from female-enriched multiplex families with severe disease, enhancing the detection of key autism genes in modest numbers of cases. Here we show the use of this strategy by identifying missense and dosage sequence variants in the gene encoding the adhesive junction-associated δ-catenin protein (CTNND2) in female-enriched multiplex families and demonstrating their loss-of-function effect by functional analyses in zebrafish embryos and cultured hippocampal neurons from wild-type and Ctnnd2 null mouse embryos. Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. Our data contribute to the understanding of the genetic architecture of autism and suggest that genetic analyses of phenotypic extremes, such as female-enriched multiplex families, are of innate value in multifactorial disorders. © 2015 Macmillan Publishers Limited. All rights reserved.

Finucane B.,Autism and Developmental Medicine Institute
Intellectual and Developmental Disabilities | Year: 2013

We surveyed 439 professionals in the field of autism to assess their knowledge and perceptions about fragile X syndrome (FXS) and related issues. Almost half had worked with at least one child diagnosed with FXS, yet most lacked basic knowledge about the condition, underestimated its significance in the etiology of autism spectrum disorders, and rarely accessed fragile X-specific resources. A majority perceived etiology to be an important variable in therapeutic response while three quarters felt that professionals in the field of autism should play an active role in referring children for etiological evaluation. Despite these opinions, most respondents either rarely or never inquired about etiology when working with a new client. The survey results underscore the need for training and education so that autism professionals can become effective partners in diagnostic genetic referral and in research and implementation of syndrome-specific interventions. © AAIDD.

Martin C.L.,Autism and Developmental Medicine Institute | Warburton D.,Columbia University
Annual Review of Genomics and Human Genetics | Year: 2015

Since the inception of clinical cytogenetics in the late 1950s, the field has witnessed the evolution of multiple methodologies for the evaluation of chromosomal imbalances and rearrangements. From the replacement of solidly stained chromosomes by Giemsa banding (G-banding) to in situ hybridization and microarrays, each technique has sought to detect smaller and smaller chromosomal aberrations across the genome. Microarray analysis has revealed that copy-number variants-a class of mutation resulting from the loss (deletion) or gain (duplication) of genomic material that is >1 kb in size-are among the significant contributors to human disease and normal variation. Here, we evaluate the history and utility of various methodologies and their impact on the current practice of clinical cytogenetics. Copyright © 2015 by Annual Reviews. All rights reserved.

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