Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

Department of Pediatrics, Duke University, Durham, North Carolina, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 6.44). 05/2008; 10(4):259-61. DOI: 10.1097/GIM.0b013e31816b64f9
Source: PubMed

ABSTRACT The US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children provides guidance to reduce the morbidity and mortality associated with heritable disorders, with a special emphasis on those conditions detectable through newborn screening. Although long-term follow-up is necessary to maximize the benefit of diagnosis through newborn screening, such care is variable and inconsistent. To begin to improve long-term follow-up, the Advisory Committee has identified its key features, including the assurance and provision of quality chronic disease management, condition-specific treatment, and age-appropriate preventive care throughout the lifespan of affected individuals. There are four components central to achieving long-term follow-up: care coordination through a medical home, evidence-based treatment, continuous quality improvement, and new knowledge discovery.


Available from: R Rodney Howell, Mar 12, 2014
1 Follower
  • Pediatrics 05/2014; 133(6). DOI:10.1542/peds.2013-3658 · 5.30 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Background:Currently, very few studies on long-term follow up of health outcomes and health-care utilization of children with inherited metabolic disorders identified through newborn screening are available. In this project, we analyzed acute care utilization for children with inherited metabolic disorders.Methods:A cohort of children up to 3 years of age who were born to New York State residents in 2006-2007 with confirmed inherited metabolic disorders identified through newborn screening, was linked to hospital discharge records. For children with multiple acute care encounters (emergency department visits and/or hospital inpatient stays), rehospitalization intervals were quantified as days between a discharge date and the next encounter.Results:Inherited metabolic disorder-related hospital care encounters were more frequent for non-Hispanic black children, Medicaid recipients, and children of younger mothers. A majority (~73%) of the children without health insurance had inherited metabolic disorder-related emergency department visits. Children with private insurance were more likely to have hospital stays. Hospital acute care utilization patterns differed with respect to inherited metabolic disorder category. Children with fatty acid oxidation disorder or organic acid disorders required the most care.Conclusions:The information collected by the unique population-based surveillance program about hospital care utilization for the affected children can be helpful in assessing health outcomes of the children, identifying at-risk populations, and improving access to essential medical services for children in need.Genet Med advance online publication 13 March 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.21.
    Genetics in medicine: official journal of the American College of Medical Genetics 03/2014; 16(9). DOI:10.1038/gim.2014.21 · 6.44 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: There is growing concern about how to provide care for persons with dementia in institutions such as nursing homes, day care centers, mobile services and hospitals. Care teams (formal caregivers) have to meet specific expectations from different sides: the Person with Dementia herself, the institution, and from different family members. Out of this situation, considerable burden can emerge hindering the professional development of care team members and counteracting quality of care of care recipients. So far there are very few specific reliable and valid scales measuring burden in care team members. Based on the theoretical concept of subjectively perceived burden, organizationally based factors of burden and structural factors of burden, we report on the construction of a care team burden scale and its scale quality criteria. Based on the theoretical three assumed sources of burden, a structured interview guide was developed. Interviews were held with professional caregivers. Through qualitative data analysis, an item pool consisting of 40 Items was constructed. Experts selected 19 items found most appropriate to measure the three theoretically based domains of burden. The Perceived Stress Scale (PSS) was chosen as a criterion in order to test discriminant validity. An exploratory factor analysis was performed. The stepwise scale analysis revealed a 10 item solution. The Cronbach's alpha was 0.785. The Pearson correlation between the PCTB 10 Item scale (mean score 10.2, SD = 5.0) and the PSS (mean score 13.0, SD = 5.9) was 0.46 (p < 0.001). All included items could clearly be assigned to one of three factors. The 10 item PCTB scale provides a valid and reliable means of obtaining ratings of burden from formal care teams working in nursing homes in order to evaluate different interventions targeted at the reduction of burden in care teams.
    Health and Quality of Life Outcomes 12/2015; 13(1). DOI:10.1186/s12955-014-0199-8 · 2.10 Impact Factor