Where Do We Go From Here? The Need for Genetic Referrals in Patients who are Deaf or Hard of Hearing: Findings from a Regional Survey

Purpose: The purpose of this study was to assess primary health care providers’ knowledge and use of genetic services for children whose hearing screening indicates they may be deaf/hard of hearing (D/HH) and identify areas in which health care providers can be supported to increase family education and referral of families for genetic consultation. Methodology: A survey was developed on current practices, knowledge, and perceived beliefs regarding genetic education and referrals for deafness. The surveys were distributed to pediatricians, family medicine physicians, nurse practitioners, and physician assistants in DC, DE, MD, NJ, NY, PA, VA, and WV. Results: Among 266 respondents, 80% were uninformed about Early Hearing Detection Intervention (EHDI) 1-3-6 guidelines prior to taking the survey. Approximately 55% were not confident about the genetic causes of deafness, 44% rarely consulted genetics professionals, 41% had not referred families to genetics, and 37% were not confident about the importance of genetic referrals. Conclusions: Integrated, targeted, and user-friendly genetics education strategies in the existing EHDI framework are needed to ensure adequate awareness and delivery of genetics services for D/HH children

Disparities in the Clinical Encounter: Virginia's African American Children with Special Health Care Needs

This study analyzed Virginia data from the most recent National Survey of Children with Special Health Care Needs. Logistic regression models were run for six Maternal and Child Health Bureau core outcomes and included demographics, child characteristics, health care providers, and health care access variables as predictors. Race/ethnicity disparities were judged to be present if the race/ethnicity variable was a significant predictor in the final model. Examining the components of disparate outcomes, African American children were found to be less likely than their white counterparts to have a usual source for sick and preventive care and to have a personal doctor or nurse. Their parents were less likely to say that doctors spent enough time, listened carefully, were sensitive to values and customs, and made them feel like a partner. These findings emphasize the need to examine health care disparities at a state level in order to guide efforts at remediation

High Density SNP Screen in A Large Multiplex Neural Tube Defect Family Refines Linkage to Loci at 7p21-Pter And 2q33.1-35

Neural tube defects (NTDs) are considered complex with both genetic and environmental factors implicated. To date, no major causative genes have been identified in humans despite several investigations. The first genomewide screen in NTDs (Rampersaud et al. 2005) demonstrated evidence of linkage to chromosomes 7 and 10. This screen included forty-four multiplex families and consisted of 402 microsatellite markers spaced approximately 10 cM apart. Further investigation of the genomic screen data identified a single large multiplex family, pedigree 8776, as primarily driving the linkage results on chromosome 7

Interdisciplinary Research Career Development: Building Interdisciplinary Research Careers in Women's Health Program Best Practices

Background: The Office of Research on Women's Health (ORWH) and the National Institutes of Health (NIH) Institutes and Centers and the Agency for Health Care Research and Quality (AHRQ) have sponsored an interdisciplinary research career development program in five funding cycles since 2000 through a K12 mechanism titled -Building Interdisciplinary Research Careers in Women's Health (BIRCWH).- As of 2010, 407 scholars have been supported in interdisciplinary women's health research and a total of 63 BIRCWH program awards have been made to 41 institutions across the U.S. Methods: In an effort to share practical approaches to interdisciplinary research training, currently funded BIRCWH sites were invited to submit 300-word bullet-point style summaries describing their best practices in interdisciplinary research training following a common format with an emphasis on practices that are innovative, can be reproduced in other places, and advance women's health research. Results and Conclusions: Twenty-six program narratives provide unique perspectives along with common elements and themes in interdisciplinary research training best practices.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/90484/1/jwh-2E2011-2E3165.pd

Health information technology in screening and treatment of child obesity: a systematic review.

BACKGROUND AND OBJECTIVES: Childhood obesity is a major problem in the United States, yet screening and treatment are often inaccessible or ineffective. Health information technology (IT) may improve the quality, efficiency, and reach of chronic disease management. The objective of this study was to review the effect of health IT (electronic health records [EHRs], telemedicine, text message or telephone support) on patient outcomes and care processes in pediatric obesity management. METHODS: Medline, Embase, and the Cochrane Registry of Controlled Trials were searched from January 2006 to April 2012. Controlled trials, before-and-after studies, and cross-sectional studies were included if they used IT to deliver obesity screening or treatment to children aged 2 to 18 and reported impact on patient outcomes (BMI, dietary or physical activity behavior change) or care processes (BMI screening, comorbidity testing, diet, or physical activity counseling). Two independent reviewers extracted data and assessed trial quality. RESULTS: Thirteen studies met inclusion criteria. EHR use was associated with increased BMI screening rates in 5 of 8 studies. Telemedicine counseling was associated with changes in BMI percentile similar to that of in-person counseling and improved treatment access in 2 studies. Text message or telephone support was associated with weight loss maintenance in 1 of 3 studies. CONCLUSIONS: To date, health IT interventions have improved access to obesity treatment and rates of screening. However, the impact on weight loss and other health outcomes remains understudied and inconsistent. More interactive and time-intensive interventions may enhance health IT's clinical effectiveness in chronic disease management