Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot.

The Progress and Future of US Newborn Screening.

Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding and policies. With the current explosion of clinical trials of treatments for rare diseases, the pressure for expansion has grown, and concerns about the capacity for improvement and growth are being expressed. Genome and exome sequencing (GS/ES) have now opened more opportunities for early identification and disease prevention at all points in the lifespan.

Fred Lorey Passed Away.

To tackle the ever-increasing ambitions of the (), in November 2019, we were looking for an Associate Editor to strengthen the Editorial board of [...

Empowering newborn screening programs in African countries through establishment of an international collaborative effort.

In an effort to explore new knowledge and to develop meaningful collaborations for improving child health, the First Pan African Workshop on Newborn Screening was convened in June 2019 in Rabat, Morocco. Participants included an informal network of newborn screening stakeholders from across Africa and global experts in newborn screening and sickle cell disease. Over 150 attendees, representing 20 countries, were present including 11 African countries.

Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review.

Background: Although sickle cell trait (SCT) is largely a benign carrier state, it may increase risk for certain clinical outcomes.

Purpose: To evaluate associations between SCT and clinical outcomes in children and adults.

Data Sources: English-language searches of PubMed, CINAHL, the Cochrane Library, Current Contents Connect, Scopus, and Embase (1 January 1970 to 30 June 2018) and bibliographies of review articles.

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.

Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual's life span. In anticipation of the changing therapeutic landscape for the Duchenne community, Parent Project Muscular Dystrophy established a newborn screening (NBS) initiative.

Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades.

Unlabelled: Sickle cell disease is a group of disorders, the majority of which are detected through state newborn screening programs. There is limited knowledge of disease prevalence in the U.S.

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.

Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference was convened in 2012 to address new findings, particularly the use of the medication sapropterin to treat some individuals with PKU, and to develop a research agenda. Prior to the 2012 conference, five working groups of experts and public members met over a 1-year period.

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism.

A trans-National Institutes of Health initiative, Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM), was launched in 2010 to identify gaps in knowledge regarding the safety and utility of nutritional interventions for the management of inborn errors of metabolism (IEM) that need to be filled with evidence-based research. IEM include inherited biochemical disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. For some of these IEM, effective management depends primarily on nutritional interventions.

Insurance coverage of medical foods for treatment of inherited metabolic disorders.

Purpose: Treatment of inherited metabolic disorders is accomplished by use of specialized diets employing medical foods and medically necessary supplements. Families seeking insurance coverage for these products express concern that coverage is often limited; the extent of this challenge is not well defined.

Methods: To learn about limitations in insurance coverage, parents of 305 children with inherited metabolic disorders completed a paper survey providing information about their use of medical foods, modified low-protein foods, prescribed dietary supplements, and medical feeding equipment and supplies for treatment of their child's disorder as well as details about payment sources for these products.

Improving newborn screening follow-up in pediatric practices: quality improvement innovation network.

Objective: To implement a 6-month quality improvement project in 15 primary care pediatric practices to improve short-term newborn screening (NBS) follow-up.

Methods: At the start of the project, each practice completed a survey to evaluate office systems related to NBS and completed a chart audit. Practice teams were provided information about NBS and trained in quality-improvement methods, and then implemented changes to improve care.

Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example.

Medical foods and dietary supplements are used to treat rare inborn errors of metabolism (IEM) identified through state-based universal newborn screening. These products are regulated under Food and Drug Administration (FDA) food and dietary supplement statutes. The lack of harmony in terminology used to refer to medical foods and dietary supplements and the misuse of words that imply that FDA regulates these products as drugs have led to confusion.

Public health implications of sickle cell trait: a report of the CDC meeting.

Although the issue of whether sickle cell trait (SCT) is clinically benign or a significant health concern has not yet been resolved, the potential health risk to affected individuals is of vital importance and represents a tremendous challenge in protecting, promoting, and improving the health of the approximately 300 million people worldwide and 3 million people in the U.S. who possess the trait.

Sickle cell disease: the need for a public health agenda.

Sickle cell disease (SCD) is a collection of inherited blood disorders that affect a substantial number of people in the U.S., particularly African Americans.

Standardizing newborn screening results for health information exchange.

Newborn screening (NBS) is a complex process that has high-stakes health implications and requires rapid and effective communication between many people and organizations. Currently, each NBS laboratory has its own method of reporting results to state programs, hospitals and individual providers, with wide variation in content and format. Pediatric care providers receive reports by mail, email, fax or telephone, depending on whether the results are normal or abnormal.

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.

Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.

Long-term follow-up of newborn screening patients.

New technology in newborn screening permits clinicians to approach strategies for defining optimal treatments for newborn-screened conditions. The Health Resources and Services Administration Maternal and Child Health Bureau, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the Centers for Disease Control and Prevention have all established initiatives for long-term follow-up assessment of children identified after newborn screening. In October 2008, an inaugural meeting of the National Institute of Child Health and Human Development-sponsored National Coordinating Center Long-Term Follow-Up Data Collection Work Group brought together partners from Health Resources and Services Administration-sponsored Regional Genetics Collaboratives to review pilot projects undertaken to promote systematic long-term follow-up for children with inborn errors of metabolism identified by newborn bloodspot screening.

Long-term follow-up in newborn screening: A systems approach for improving health outcomes.

Background: Newborn screening is a complex system of interrelated multidimensional components singly focused on safeguarding the health of our nation's newborns. The long-term health outcome and well-being of individuals identified by newborn screening represents a meaningful measurement of the performance of the newborn screening system. This assessment of long-term follow-up requires a systems approach that connects stakeholders, processes, and outcomes through the collection, integration, evaluation, and sharing of key data and metrics.

Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States.

A workshop to evaluate the reported increasing trend in the incidence rate of primary congenital hypothyroidism (CH) identified by newborn screening was held February 27 and 28, 2008, in Atlanta, Georgia, and was sponsored by the Centers for Disease Control and Prevention, the Health Resources and Services Administration, and the National Newborn Screening and Genetics Resource Center. Through a series of presentations and discussions, this group of experts considered a variety of factors that could be contributing to the perceived increasing trend of the CH-incidence rate, the gaps in knowledge that need to be overcome to identify the causes of the observed trend, and possible future research activities that might resolve the uncertainties surrounding the increasing incidence rate of CH in the United States. On the basis of these discussions, workshop participants concluded that the initial focus of future efforts should be to determine if the increasing CH-incidence rate persists once there is standardization of the diagnostic criteria for the classification of CH versus transient hypothyroidism.

Medical foods: inborn errors of metabolism and the reimbursement dilemma.

Purpose: Medical foods and pharmacological doses of vitamins are used to treat certain genetic diseases for the duration of a patient's lifetime, which necessitates life-long management of the condition and diet by the patient and a health care provider. However, payment for medical foods and health insurance coverage of medical foods is not uniform.

Methods: A survey of states' newborn screening (NBS) representatives and a review of state policies (as of 2008) were conducted to ascertain payment and insurance coverage of medical foods.