Who Counsels Parents of Newborns Who Are Carriers of Sickle Cell Anemia or Cystic Fibrosis?

Our objective was to describe: 1) physicians’ knowledge of whether genetic counseling is provided to parents of newborns with sickle cell trait (SCT) or who are cystic fibrosis carriers (CFC), and 2) the prevalence of genetic counseling provided by primary care physicians. We conducted a cross‐sectional descriptive survey of 600 randomly‐sampled Michigan‐based pediatricians and family physicians, assessing physician knowledge of where and whether genetic counseling is received by parents whose newborns are carriers. Chi‐squared testing determined associations between genetic counseling location and physician demographic characteristics. Our response rate was 62 %: 298 (84 %) provided infant well care (183 pediatricians, 115 family physicians). Most respondents were non‐Hispanic White (65 %). Virtually all physicians believed parents whose newborns are carriers of either SCT or CFC should receive some genetic counseling (from the physician and/or another source), yet 20 % reported that parents of newborns with SCT did not receive counseling. Parents of infants with CFC received more counseling overall (92 % vs. 80 %; p < 0.01) and were counseled more frequently by genetic counselors or specialty centers than parents of newborns with SCT (85 % vs. 60 %; p < 0.01). Although physicians agreed that parents whose newborns are carriers should receive genetic counseling, fewer parents of newborns with SCT than with CFC received counseling from any source. This finding strongly suggests the need for further education and investigation of this apparent health disparity.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147004/1/jgc40218.pd

Education and Learning Opportunities (NVP 2014, Report 3)

With support and collaboration from the W.K. Kellogg Foundation through the America Healing initiative,  researchers at the University of Michigan are leading the National Voices Project (NVP) from 2011-2016. The central goals of the NVP are to examine the sourcesof racial/ethnic inequity and other disparitiesfor children in the United States today and identify interventions that address disparities effectively.The NVP offers an unprecedented perspective on community-level opportunities for children throughout the country, in the domains of health and nutrition, education and learning, and economic security – through the eyes of adults whose occupations and volunteer work affect such opportunities. In other words, the NVP reflects the perceptions of individuals throughout the United States who are in a position to improve children's opportunities inthe future. We generally use the word "children" throughout the report to describe children from age 0-18 years, unless otherwise noted.Previous reports for NVP 2014 focused chiefly on respondent characteristics and findings regarding health,  healthcare, and nutrition. This report for NVP 2014 will center on findings related to children's education and learning

Health, Nutrition and Healthcare Availability (Survey 2, Report 2)

With support and collaboration from the W.K. Kellogg Foundation through the America Healing initiative, researchers at the University of Michigan are leading the National Voices Project (NVP) from 2011-2015. The central goals of the NVP are to examine the sources of racial/ethnic inequity and other disparities for children in the United States today, identify interventions that address disparities effectively, and inform the public dialogue about racial healing and racial equality. The NVP offers a fresh perspective on community-level opportunities for children throughout the country, in the domains of health and nutrition, education, and economic security -- through the eyes of adults whose work and volunteer efforts affect such opportunities. In other words, the NVP reflects the perceptions of individuals throughout the United States who are in a position to improve children's opportunities in the future. The questionnaire for NVP Survey 2 was developed by the National Voices Project team at the University of Michigan, with input from WKKF collaborators. We examined how individuals who work or volunteer with children view opportunities for education, health and healthcare, and economic well-being related to children and adolescents. Many of the questions were identical to questions fielded for NVP Survey 1 in 2011, to facilitate comparisons of responses across these different samples and over time. New questions in NVP Survey 2 centered on respondents' perceptions of segregation and inequities in the communities they know best, and on respondents' awareness about efforts to bridge racial/ethnic inequities in those communities

Education and Learning Opportunities (Survey 2, Report 3)

With support and collaboration from the W.K. Kellogg Foundation through the America Healing initiative, researchers at the University of Michigan are leading the National Voices Project (NVP) from 2011-2016. The central goals of the NVP are to examine the sources of racial/ethnic inequity and other disparities for children in the United States today, identify interventions that address disparities effectively, and inform the public dialogue about racial healing and racial equality.The NVP offers a fresh perspective on community-level opportunities for children throughout the country, in the domains of health and nutrition, education, and economic security – through the eyes of adults whose work and volunteer efforts affect such opportunities. In other words, the NVP reflects the perceptions of individuals throughout the United States who are in a position to improve children?s opportunities in the future.NVP Survey 1 was conducted in November-December 2011. NVP Survey 2 was fielded in August-September 2012. NVP Survey 2 differed from NVP Survey 1 in two key respects: 1) NVP Survey 2 included an oversample in communities included in the "Place Matters" initiative led by the Joint Center for Political and Economic Studies, a fellow grantee of the W.K. Kellogg Foundation. The oversample included sufficient numbers of responses to permit the NVP team to analyze differences across 6 specific "Place Matters" counties, and 2) Questions were asked in greater depth about efforts at community levels about bridging efforts to address racial/ethnic inequities.

Opportunities and Barriers Related to Income (Survey 2, Report 4)

Led by researchers at the University of Michigan, the National Voices Project is an effort to bring the perspectives of thousands of people in communities across the United States to the national dialogue about opportunities and barriers for children related to race/ethnicity. The National Voices Project conducts major national surveys twice each yearamong adults who work and volunteer on behalf of children. These surveys focus on racial/ethnic disparities at the community level that affect children?s health, education, and economic security.NVP Survey 1 was conducted in November-December 2011. NVP Survey 2 was fielded in August-September 2012.The final eligible sample for NVP Survey 2 included 2,311 adults from 48 states and D.C. NVP Survey 2 differed from NVP Survey 1 in two key respects: 1) NVP Survey 2 included an oversample in communities included in the "Place Matters" initiative led by the Joint Center for Political and Economic Studies, a fellow grantee of the W.K. Kellogg Foundation. The oversample included sufficient numbers of responses to permit the NVP team to analyze differences across 6 specific "Place Matters" counties, and 2) Questions were asked in greater depth about efforts at community levels about bridging efforts to address racial/ethnic inequities.

Education and Learning Opportunities (NVP 2013, Report 3)

With support and collaboration from the W.K. Kellogg Foundation through the America Healing initiative,  researchers at the University of Michigan are leading the National Voices Project (NVP) from 2011-2016. The central goals of the NVP are to examine the sources of racial/ethnic inequity and other disparities for children in the United States today and identify interventions that address disparities effectively.The NVP offers an unprecedented perspective on community-level opportunities for children throughout the country, in the domains of health and nutrition, education and learning, and economic security – through the eyes of adults whose occupations and volunteer work affect such opportunities. In other words, the NVP reflects the perceptions of individuals throughout the United States who are in a position to improve children's opportunities in the future. We generally use the word ?children? throughout the report to describe children from age 0-18 years, unless otherwise noted.Report #3 for NVP 2013 focuses on findings related to children's education and learning

Opportunities and Barriers Related to Income (NVP 2013, Report 4)

With support and collaboration from the W.K. Kellogg Foundation through the America Healing initiative, researchers at the University of Michigan are leading the National Voices Project (NVP) from 2011-2016. The central goals of the NVP are to examine the sources of racial/ethnic inequity and other disparities for children in the United States today and identify interventions that address disparities effectively.The NVP offers an unprecedented perspective on community-level opportunities for children throughout the country, in the domains of health and nutrition, education and learning, and economic security – through the eyes of adults whoseoccupations and volunteer work affect such opportunities. In other words, the NVP reflects the perceptions of individuals throughout the United States who are in a position to improve children's opportunities in the future. We generally use the word "children" throughout the report to describe young children from age 0-8 years, and "teens" for children ages 13-18 years old.Report #4 for NVP 2013 focuses chiefly on findings on children's and teens' health, education and learning, andeconomic opportunities related to income

A Prospective Study to Validate the Functional Assessment of Cancer Therapy (FACT) for Epidermal Growth Factor Receptor Inhibitor (EGFRI)-induced Dermatologic Toxicities FACT-EGFRI 18 Questionnaire: SWOG S1013

Background Papulopustular rash is a common class effect of epidermal growth factor receptor inhibitors (EGFRI) that can affect patients’ health-related quality of life and cause disruptions to treatment. SWOG S1013 (NCT01416688) is a multi-center study designed to validate the Functional Assessment of Cancer Therapy EGFRI 18 (FACT-EGFRI 18) using 7-items from the National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE) version 4.0 to assess EGFRI-induced skin-related toxicities and their impact on functional status. Methods Patients with a diagnosis of colorectal or lung cancer to receive EGFRI therapies for at least 6 weeks were enrolled. Patient self-assessments using the FACT-EGFRI 18 were completed prior to undergoing CTCAE assessment by trained clinicians at baseline, weekly × 6, and then monthly × 3. The psychometric properties of the FACT-EGFRI 14 (skin toxicity items only) and 18 (plus 2 nail and 2 hair items) were established based on criterion validity, known groups validity, internal consistency reliability, and responsiveness to change. Results Of the 146 registered patients, 124 were evaluable. High Cronbach’s alpha (\u3e 0.70) for both FACT-EGFRI 14 and FACT-EGFRI 18 scores across assessment times were observed. Although agreement (i.e. criterion validity) between individual and summary scales of the FACT-EGFRI 18 for assessing skin toxicity was good, agreement with the clinician-reported CTCAE was only fair. The minimal important difference was determined to be 3 points. The results also demonstrated responsiveness to symptom change. Discussion Based on the results of this multi-center validation study, the FACT-EGFRI 18 patient-reported outcome instrument provided data from the patient’s perspective yielding unique information as well as complementing clinician-rated CTCAE grades, especially for the symptoms of pain, pruritus, and paronychia. Conclusions Good to excellent psychometric properties for the FACT-EGFRI 18 were demonstrated, supporting further use of this patient-reported outcomes measure. Additional validation with a more diverse group of patients should be conducted

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term. Improvements and refinements in the diet for phenylalanine hydroxylase deficiency have been made over the years, and adjunctive therapies have proven to be successful for certain patients. Yet evidence-based guidelines for managing phenylalanine hydroxylase deficiency, optimizing outcomes, and addressing all available therapies are lacking. Thus, recommendations for nutrition management were developed using evidence from peer-reviewed publications, gray literature, and consensus surveys. The areas investigated included choice of appropriate medical foods, integration of adjunctive therapies, treatment during pregnancy, monitoring of nutritional and clinical markers, prevention of nutrient deficiencies, providing of access to care, and compliance strategies. This process has not only provided assessment and refinement of current nutrition management and monitoring recommendations but also charted a direction for future studies. This document serves as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylalanine hydroxylase deficiency