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. The working groups addressed the following: long-term outcomes and management across the lifespan; PKU and pregnancy; diet control and management; pharmacologic interventions; and molecular testing, new technologies, and epidemiologic considerations. In a parallel and independent activity, an Evidence-based Practice Center supported by the Agency for Healthcare Research and Quality conducted a systematic review of adjuvant treatments for PKU; its conclusions were presented at the conference. The conference included the findings of the working groups, panel discussions from industry and international perspectives, and presentations on topics such as emerging treatments for PKU, transitioning to adult care, and the U.S. Food and Drug Administration regulatory perspective. Over 85 experts participated in the conference through information gathering and/or as presenters during the conference, and they reached several important conclusions. The most serious neurological impairments in PKU are preventable with current dietary treatment approaches. However, a variety of more subtle physical, cognitive, and behavioral consequences of even well-controlled PKU are now recognized. The best outcomes in maternal PKU occur when blood phenylalanine (Phe) concentrations are maintained between 120 and 360 µmol/L before and during pregnancy. The dietary management treatment goal for individuals with PKU is a blood Phe concentration between 120 and 360 µmol/L. The use of genotype information in the newborn period may yield valuable insights about the severity of the condition for infants diagnosed before maximal Phe levels are achieved. While emerging and established genotype-phenotype correlations may transform our understanding of PKU, establishing correlations with intellectual outcomes is more challenging. Regarding the use of sapropterin in PKU, there are significant gaps in predicting response to treatment; at least half of those with PKU will have either minimal or no response. A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment. New drugs that are safe, efficacious, and impact a larger proportion of individuals with PKU are needed. However, it is imperative that treatment guidelines and the decision processes for determining access to treatments be tied to a solid evidence base with rigorous standards for robust and consistent data collection. The process that preceded the PKU State-of-the-Science Conference, the conference itself, and the identification of a research agenda have facilitated the development of clinical practice guidelines by professional organizations and serve as a model for other inborn errors of metabolism.

Academy of Nutrition and Dietetics: revised 2015 standards of practice and standards of professional performance for registered dietitian nutritionists (competent, proficient, and expert) in pediatric nutrition.

All of the health care professions recognize that care of infants and children is best managed as a specialty area of practice. Nutrition plays a key role in normal growth and development. Appropriate nutrition care is vital adjuvant therapy for infants and children with acute or chronic illness. Provision of nutrition services in pediatric practice requires that registered dietitian nutritionists (RDNs) have advanced knowledge in the focus area of pediatric nutrition. Therefore, the Pediatric Nutrition Dietetic Practice Group, with guidance from the Academy of Nutrition and Dietetics Quality Management Committee, has developed this revision of the Standards of Practice and Standards of Professional Performance for RDNs in Pediatric Nutrition as a resource for RDNs working in pediatric nutrition to assess skill level and to identify needs for professional development to advance practice in pediatric nutrition. This revision reflects recent advances in pediatric nutrition and replaces the previous Standards published in 2009. The Standards of Practice represent the four steps of the Nutrition Care Process as applied to the care of patients/clients. The Standards of Professional Performance represent six domains of professionalism: Quality in Practice, Competence and Accountability, Provision of Services, Application of Research, Communication and Application of Knowledge, and Utilization and Management of Resources. The Standards of Practice and Standards of Professional Performance are complementary resources for RDNs working in pediatric nutrition and dietetics practice.

Position of the Academy of Nutrition and Dietetics: nutrition guidance for healthy children ages 2 to 11 years.

It is the position of the Academy of Nutrition and Dietetics that children ages 2 to 11 years should achieve optimal physical and cognitive development, maintain healthy weights, enjoy food, and reduce the risk of chronic disease through appropriate eating habits and participation in regular physical activity. Rapid increases in the prevalence of childhood obesity during the 1980s and 1990s focused attention on young children's overconsumption of energy-dense, nutrient-poor foods and beverages and lack of physical activity. While recent data suggest a stabilization of obesity rates, several public health concerns remain. These include the most effective ways to promote healthy weights, the number of children living in food insecurity, the under-consumption of key nutrients, and the early development of diet-related risks for chronic diseases, such as cardiovascular disease, type 2 diabetes, cancer, obesity, and osteoporosis. This Position Paper reviews what children 2 to 11 years old in the United States are reportedly eating, explores trends in food and nutrient intakes, and examines the impact of federal nutrition programs on child nutrition. Current dietary recommendations and guidelines for physical activity are also discussed. The roles of parents and caregivers in influencing the development of life-long healthy eating behaviors are highlighted. The Academy of Nutrition and Dietetics works with other allied health and food industry professionals to translate dietary recommendations and guidelines into positive, practical health messages. Specific recommendations and sources of science-based nutrition messages to improve the nutritional well-being of children are provided for food and nutrition practitioners.