Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.

BACKGROUND: In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency were published as a companion to the concurrently published American College of Medical Genetics and Genomics guideline for the medical treatment of phenylketonuria (PKU). These were developed primarily from a summary of findings from the PKU scientific review conference sponsored by the National Institutes of Health and Agency for Healthcare Research & Quality along with additional systematic literature review. Since that time, the Genetic Metabolic Dietitians International and the Southeast Regional Newborn Screening and Genetics Collaborative have partnered to create a web-based technology platform for the update and development of nutrition management guidelines for inherited metabolic disorders. OBJECTIVE: The purpose of this PKU guideline is to establish harmonization in treatment and monitoring, to guide the integration of nutrition therapy in the medical management of PKU, and to improve outcomes (nutritional, cognitive, and developmental) for individuals with PKU in all life stages while reducing associated medical, educational, and social costs. METHODS: Six research questions critical to PKU nutrition management were formulated to support guideline development: Review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature, along with expert Delphi survey feedback, nominal group process, and external review from metabolic physicians and dietitians were utilized for development of recommendations relevant to each question. Recommendations address nutrient intake, including updated protein requirements, optimal blood phenylalanine concentrations, nutrition interventions, monitoring parameters specific to life stages, adjunct therapies, and pregnancy and lactation. Recommendations were graded using a rigorous system derived from the Academy of Nutrition and Dietetics. RESULTS AND CONCLUSION: These guidelines, updated utilizing a thorough and systematic approach to literature analysis and national consensus process, are now easily accessible to the global community via the newly developed digital platform. For additional details on specific topics, readers are encouraged to review materials on the online portal: https://GMDI.org/.

The role of evidence analysts in creating nutrition management guidelines for inherited metabolic disorders.

RATIONALE, AIMS AND OBJECTIVES: Evidence and consensus-based guidelines for nutrition management of maple syrup urine disease (MSUD) were developed as part of a project to create nutrition guidelines for inherited metabolic disorders identified through newborn screening. The objective of this study was to describe and evaluate the role of evidence analysts in the systematic review phase of guideline development to improve quality of process and output and inform future guideline development projects. METHODS: Recruitment, training and output of evidence analysts were documented throughout the MSUD project. The role of analysts was to critically review and rate the scientific quality of published literature and abstract pertinent information using quality checklists and abstraction worksheets. A secure, web-based application was developed to standardize the process and establish permanent documentation. Analysts completed a post-project survey on perceptions of their role, training and the evidence analysis process. RESULTS: Of 23 recruits, 65% (15) completed evidence analyst training; 73% of those (11) participated in the analysis of 98 literature articles. Analysts reviewed a median of four articles (range 1-16) with median productivity of 1.1 articles per month. All analysts surveyed (n = 9) understood their role and agreed that training was adequate; 100% agreed that analyst involvement was critical in developing guidelines for MSUD. CONCLUSION: Evidence analysts played a key role in appraising and abstracting evidence to develop nutrition guidelines for MSUD. With critical improvements to the process, particularly more stringent and systematic evaluation and documentation of analyst performance related to productivity and quality, we will continue to recruit, train and support evidence analysts in evidence-based guideline development projects.

Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.

In an effort to increase harmonization of care and enable outcome studies, the Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Newborn Screening and Genetics Collaborative (SERC) are partnering to develop nutrition management guidelines for inherited metabolic disorders (IMD) using a model combining both evidence- and consensus-based methodology. The first guideline to be completed is for maple syrup urine disease (MSUD). This report describes the methodology used in its development: formulation of five research questions; review, critical appraisal and abstraction of peer-reviewed studies and unpublished practice literature; and expert input through Delphi surveys and a nominal group process. This report includes the summary statements for each research question and the nutrition management recommendations they generated. Each recommendation is followed by a standardized rating based on the strength of the evidence and consensus used. The application of technology to build the infrastructure for this project allowed transparency during development of this guideline and will be a foundation for future guidelines. Online open access of the full, published guideline allows utilization by health care providers, researchers, and collaborators who advise, advocate and care for individuals with MSUD and their families. There will be future updates as warranted by developments in research and clinical practice.

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.

Bridging evidence and consensus methodology for inherited metabolic disorders: creating nutrition guidelines.

RATIONALE, AIMS AND OBJECTIVES: The management of many inherited metabolic disorders (IMDs) is dependent on nutrition intervention, but few clinical management guidelines for these uncommon disorders exist. Clinicians are forced to make nutrition treatment decisions using limited data. This results in clinical variations in both service and cost. We describe a method for establishing management guidelines to help clinicians treat patients with IMDs. METHODS: The Southeast Newborn Screening and Genetics Collaborative (Region 3) convened a group of nine national experts in metabolic nutrition to determine the pertinent issues in the development of nutrition management guidelines for IMDs. These experts were trained in evidence analysis and examined established consensus techniques for guideline development. RESULTS: The workgroup developed a multi-step process for guideline development known as the Delphi-Nominal Group-Delphi-Field Testing methodology, which includes a review of scientific and grey (unpublished) literature, a Delphi survey of practice, a nominal group meeting to clarify discrepancies, a formulation of recommendations and a second Delphi round to assess the degree of consensus with the proposed recommendations. External review and field testing are also built into the process. CONCLUSION: The evidence- and consensus-based method suggested for the development of nutrition management guidelines for IMDs will result in the production of consistent and accessible guidelines that can be created in a timely and cost-effective manner and offer a validated methodology to develop management guidelines for this field to optimize outcomes.

The healthy learner model for student chronic condition management--part I.

A significant number of children have chronic health conditions that interfere with normal activities, including school attendance and active participation in the learning process. Management of students' chronic conditions is complex and requires an integrated system. Models to improve chronic disease management have been developed for the medical system and public health. Programs that address specific chronic disease management or coordinate school health services have been implemented in schools. Lacking is a comprehensive, integrated model that links schools, students, parents, health care, and other community providers. The Healthy Learner Model for chronic condition management identifies seven elements for creating, implementing, and sustaining an efficient and effective, comprehensive community-based system for improving the management of chronic conditions for school children. It has provided the framework for successful chronic condition management in an urban school district and is proposed for replication in other districts and communities.

The healthy learner model for student chronic condition management--part II: the asthma initiative.

The Healthy Learner Asthma Initiative (HLAI) was designed as a comprehensive, school-community initiative to improve asthma management and produce healthy learners. National asthma guidelines were translated into components of asthma management in the school setting that defined performance expectations and lead to greater quality and consistency of asthma care. The HLAI incorporated evidence-based practice and introduced the role of the asthma resource nurse. Leadership, capacity building, and strong partnerships among school nurses, students, families, and health care providers were essential to the implementation and sustainability of the HLAI. Professional school nursing and evaluation were defined as key requisites to a successful initiative. Evaluation results indicated positive effects on nursing practice, fewer asthma visits to the health office, and better attendance among students who received asthma care in the school health office. The HLAI provided the basis for development of the Healthy Learner Model for Student Chronic Condition Management.

Evaluation and sustainability of the healthy learners asthma initiative.

The Healthy Learners Asthma Initiative (HLAI) involved collaboration between Minneapolis Public Schools (MPS), local health care providers/payors, parents, and other partners. The intervention included development of enhanced asthma care in school health offices and clinic performance improvement projects to foster adoption of National Institutes of Health asthma guidelines. Goals were to improve asthma management among school children and reduce asthma-related school absences, hospitalizations, and emergency department visits. The effectiveness evaluation utilized a randomized community trial design with 16 elementary and middle schools matched and randomly assigned to either an intervention or a control group. Outcomes investigated were (a) school health office impacts and (b) school attendance. Data sources included school health office records, district attendance, enrollment, and demographics files. Following implementation of the HLAI, asthma visits to health offices were significantly lower in intervention schools compared to control schools (91 vs 121 visits per 100 students with asthma per month), and intervention schools had greater availability of medication and asthma action plans and more peakflow measurements, asthma education, and parent communication. Clinics initiated significantly more asthma action plans and sent them to MPS. Attendance differences between groups were limited to students who received asthma care through the school health office. Monitoring of asthma management activities provided through school health offices from 2002 to 2005 indicates sustained implementation of enhanced asthma care in schools and increased asthma communication between school, parents, and health care providers.

Medical nutrition therapy for the prevention and treatment of unintentional weight loss in residential healthcare facilities.

OBJECTIVES: To identify the rate of unintentional weight loss (UWL) in adults following their admission into residential healthcare facilities, assess the effectiveness of a new medical nutrition therapy (MNT) protocol for the prevention and treatment of UWL, and describe nutrition assessment and intervention activities of dietitians. DESIGN: Prospective intervention study in which volunteer dietitians were randomly assigned to usual nutrition care (UC) or MNT protocol care (MNT-PC) groups. Dietitians recruited newly admitted residents and tracked their weights for up to 6 months using standardized weighing procedures. Data on weight outcomes and nutrition care activities were abstracted from medical records and compared between study groups. Subjects/settings Thirty-one dietitians from 29 facilities completed the field test (16 MNT-PC, 13 UC). Medical record data were available for 394 residents (223 MNT-PC, 171 UC), and complete weight trend data were available for 364 residents (200 MNT-PC, 164 UC). INTERVENTION: The new MNT protocol for UWL in residential facilities emphasized assessment; intervention (including weighing frequency); communication with staff, medical doctor, family, and resident; and reassessment. Main outcome measures Rate of UWL and weight status 90 days after admission and weight status 90 days after identification of UWL. Statistical analyses Chi;(2), Independent t test, analysis of variance, and multiple regression using the general linear model. RESULTS: Fourteen of 364 residents (4%) were admitted with significant preexisting weight loss, which was successfully treated in eight residents during the first 90 days. Substantial unintentional weight loss (>or=5% in any 30 days) developed in 78 residents (21%). MNT-PC dietitians were more likely to identify UWL. When UWL was identified, and, after providing nutrition care to these residents for an additional 90 days, 32 of 61 residents (52%) maintained or gained weight. Dietitians in UC and MNT-PC groups were equally successful in treating preexisting or postadmission unintentional weight loss when it was identified. Differences were found in nutrition care activities. MNT-PC dietitians reported more nutrition assessment activities, whereas UC dietitians reported more intervention activities. Conclusions/applications Nutrition care protocols with standardized weighing procedures can increase the identification of UWL in the residential healthcare environment. Improved identification supports the additional assessment activities used by MNT-PC dietitians. Similar outcomes for UC and MNT-PC groups when UWL was identified indicate that usual nutrition care was already a high standard of care for intervention.