scholarly journals Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States

2020 ◽  
Vol 6 (3) ◽  
pp. 64
Author(s):  
Sari Edelman ◽  
Hiral Desai ◽  
Trey Pigg ◽  
Careema Yusuf ◽  
Jelili Ojodu
Keyword(s):  
United States ◽  
At Risk ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Technical Assistance ◽  
The United States ◽  
Data Repository ◽  
Adrenal Hyperplasia ◽  
Permanent Disability ◽  
Specific Disorders

Newborn screening (NBS) is a state-based public health program that aims to identify newborns at risk of certain disorders in the first days after birth to prevent permanent disability or death. Disorders on the Health and Human Services Federal Advisory Committee’s Recommended Uniform Screening Panel (RUSP) have been adopted by most state NBS programs; however, each state mandates specific disorders to be screened and implements their own system processes. Congenital adrenal hyperplasia (CAH) was added to the RUSP in 2005, and currently all 53 NBS programs universally screen for it. This paper provides a landscape of CAH screening in the United States, utilizing data voluntarily entered by state NBS programs in the Newborn Screening Technical assistance and Evaluation Program data repository. Data reported encompasses NBS state profile data (follow-up, disorder testing and the reporting of processes and methodologies for screening), quality indicator data (timeliness of CAH NBS) and confirmed cases. This comprehensive landscape analysis compares the CAH NBS systems across the US. This is vital in ultimately ensuring that newborns with CAH at risk of salt crisis receive appropriate intervention in a timely manner.

scholarly journals Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy

2020 ◽  
Vol 6 (3) ◽  
pp. 67 ◽  
Author(s):  
Patrice K. Held ◽  
Ian M. Bird ◽  
Natasha L. Heather
Keyword(s):  
United States ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
False Positive ◽  
Primary Care Physicians ◽  
The United States ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency ◽  
Screening Accuracy

Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.

scholarly journals Development of National Newborn Screening Quality Indicators in the United States

2019 ◽  
Vol 5 (3) ◽  
pp. 34 ◽  
Author(s):  
Careema Yusuf ◽  
Marci K. Sontag ◽  
Joshua Miller ◽  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
...  
Keyword(s):  
Public Health ◽  
United States ◽  
Newborn Screening ◽  
Quality Indicators ◽  
Technical Assistance ◽  
The United States ◽  
Iterative Refinement ◽  
Data Repository ◽  
Screening System ◽  
Screening Process

Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system.

scholarly journals Real-World Evidence of Clinical Outcomes in Patients With Assumed Classic Congenital Adrenal Hyperplasia in the United States

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A93-A94
Author(s):  
Mallory Farrar ◽  
Robert Farber ◽  
Ginny P Sen ◽  
Charles Yonan ◽  
Jean Lin Chan
Keyword(s):  
United States ◽  
Congenital Adrenal Hyperplasia ◽  
Real World ◽  
Pediatric Patients ◽  
The United States ◽  
Adrenal Hyperplasia ◽  
Medical Claims ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Real World Evidence ◽  
Classic Cah

Abstract Background: Classic congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, usually due to a deficiency in the 21-hydroxylase enzyme, that results in impaired cortisol synthesis and excess androgen production. Patients with classic CAH experience both disease-related features from excess androgens and treatment-related complications from the chronic, supraphysiologic use of glucocorticoids (GCs) often required for androgen control. This study was conducted to evaluate the demographics and clinical characteristics of adult and pediatric patients in the United States (US) with assumed classic CAH based on International Classification of Diseases (ICD) codes, GC prescriptions, and medical claims. Methods: Analyses were based on longitudinal patient-level data from the Decision Resources Group Real World Evidence repository, which links medical claims, prescription claims, and electronic health records from >300 million US patients. Data were analyzed for patients aged ≥18 years (adult) and <18 years (pediatric) with assumed classic CAH based on ICD 9/10 codes associated with “adrenogenital disorders” and whose proportion of days covered with a GC in 2018–2019 was >75%. These patients were matched 1:3 with a control cohort based on age, gender, geographic region, and insurance type. Both assumed CAH and control cohorts had continuous coverage with at least 1 medical claim and 1 pharmacy claim in each year, 2018–2019. Results: Of 1,111 patients with assumed classic CAH, 778 were ≥18 years old (65% female; mean age [±SD], 43±17 years) and 333 were <18 years old (51% female; mean age [±SD], 11±4.7 years). Both adult and pediatric patients with assumed classic CAH were more likely than matched controls (adult N=2334; pediatric N=999) to experience events that could be related to chronic GC use, including infection (adult: 49.9% vs 37.3% [control]; pediatric: 49.5% vs 40.0%), weight gain (adult: 5.9% vs 2.5%; pediatric: 9.0% vs 2.6%), and moon face (adult: 44.0% vs 0.1%; pediatric: 37.8% vs 0.1%); all P<0.01 vs control. Adult patients were more likely than matched controls to experience acne (6.0% vs 3.6%), hirsutism (8.1% [47/508] vs 5.5% [84/1524]), and infertility (1.7% vs 0.4%); all P<0.01. Pediatric patients were more likely to experience pubertal development issues (10.5% vs 1.8%), acne (8.4% vs 5.1%), and advanced bone age (1.2% vs 0.1%); all P<0.05. Conclusions: Compared to matched controls, both adult and pediatric patients with assumed classic CAH had significantly more disease-related comorbidities and potential GC treatment-related conditions, indicating the challenges with current GC treatments. This study was limited by the assumed nature of classic CAH due to lack of a specific ICD code, but the combination of chronic GC use (>75% days) with the diagnosis code most likely used in these patients (adrenogenital disorder) supports the validity of this analysis.

scholarly journals Attention-Deficit/Hyperactivity Disorder Among US Children and Adolescents With Congenital Adrenal Hyperplasia

2020 ◽  
Vol 4 (12) ◽  
Author(s):  
Lauren A Harasymiw ◽  
Scott D Grosse ◽  
Kyriakie Sarafoglou
Keyword(s):  
United States ◽  
Attention Deficit Hyperactivity Disorder ◽  
General Population ◽  
Congenital Adrenal Hyperplasia ◽  
Children And Adolescents ◽  
Attention Deficit ◽  
The United States ◽  
Future Research ◽  
Adrenal Hyperplasia ◽  
Hyperactivity Disorder

Abstract Background Little is known regarding risk for co-occurring mental health conditions among pediatric patients with congenital adrenal hyperplasia (CAH). The objective of the current study was to investigate the prevalence of medically managed attention-deficit/hyperactivity disorder (ADHD) in 2 large administrative samples of insured children and adolescents with and without CAH in the United States. Methods We assessed the prevalence of CAH and of medically managed ADHD using algorithms defined from diagnosis codes and filled prescriptions data using the IBM MarketScan Commercial and Multi-State Medicaid claims databases. We evaluated subjects who were continuously enrolled for ≥ 12 months with a first claim during October 2015 through December 2017 when they were 5 to 18 years old. Results The administrative prevalence of CAH in the Commercial (N = 3 685 127) and Medicaid (N = 3 434 472) samples was 10.1 per 100 000 (n = 372) and 7.2 per 100 000 (n = 247), respectively. The prevalence of medically managed ADHD in the non-CAH population was 8.4% in the Commercial sample and 15.1% in the Medicaid sample. Among children with CAH, there was no increased prevalence of ADHD in the Commercial (9.2%, prevalence ratio [PR] = 1.1; 95% confidence interval [CI], 0.82-1.54; P = 0.48) or Medicaid (13.8%; PR = 0.91; 95% CI, 0.67–1.24; P = 0.55) samples compared with the general population. Conclusions Using 2 large samples of insured children and adolescents in the United States, we found similar prevalence of medically managed ADHD among those with CAH and the general population. Future research to assess the validity of our claims algorithm for identifying pediatric CAH cases is warranted.

scholarly journals Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation

2020 ◽  
Vol 6 (2) ◽  
pp. 48
Author(s):  
Kshea Hale ◽  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
Sikha Singh ◽  
Jelili Ojodu
Keyword(s):  
Public Health ◽  
United States ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Technical Assistance ◽  
Genetic Disorders ◽  
Health Resources ◽  
The United States ◽  
Lessons Learned ◽  
Implementation Project

Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS’ Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.

scholarly journals Home food procurement impacts food security and diet quality during COVID-19

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meredith T. Niles ◽  
Kristen Brassard Wirkkala ◽  
Emily H. Belarmino ◽  
Farryl Bertmann
Keyword(s):  
United States ◽  
Food Security ◽  
Diet Quality ◽  
Technical Assistance ◽  
Safety Net ◽  
The United States ◽  
Dietary Quality ◽  
Home Food ◽  
Food Procurement ◽  
Food Insecure Households

Abstract Background Home food procurement (HFP) (i.e. gardening, fishing, foraging, hunting, backyard livestock and canning) have historically been important ways that people obtain food. Recently, some HFP activities have grown (e.g. gardening), while other activities (e.g. hunting) have become less common in the United States. Anecdotally, COVID-19 has sparked an increase in HFP evidenced by increased hunting licenses and shortages in seeds and canning supplies. HFP may have positive benefits for food security and diet quality, though research beyond gardening is especially limited in high-income countries. Methods We examine HFP activities since the COVID-19 pandemic began, and their relationship to food security and dietary quality using multivariable logit models and matching analysis with a statewide representative survey (n = 600) of residents of Vermont, United States. Results We find 29% of respondent households classified as food insecure since COVID-19, and higher prevalence of food insecurity among those experiencing a negative job change since COVID-19, households earning less than $50,000 annually, Hispanic and multi-race respondents. Nearly 35% of respondents engaged in HFP activities since the COVID-19 pandemic began; the majority of those gardened, and more than half pursued HFP activities more intensely than before the pandemic or for the first time. Food insecure households were more likely to pursue HFP more intensely, including more gardening, fishing, foraging, and hunting. Respondents who were food insecure, Black, Indigenous, People of Color, those with a negative job disruption, and larger households all had greater odds of increased intensity of HFP during the COVID-19 pandemic. HFP was significantly associated with eating greater amounts of fruits and vegetables; however, this effect was only significant for food secure households. Conclusion Overall, these results suggest that HFP activities have increased since the start of the COVID-19 pandemic, and may be an important safety net for food insecure households. However, HFP for food insecure households does not translate into the same higher fruit and vegetable intake as found among food secure HFP households, suggesting this population may be trying to maintain intake, or that they may have potential important resource or technical assistance needs. Long-term, HFP activities may have important food security and diet quality impacts, as well as conservation implications, which should be more thoroughly explored. Regardless, the increased interest and intensity of HFP demonstrates opportunities for educational and outreach efforts.

Sign in / Sign up

Export Citation Format

Share Document