Amy Cunningham - Academia.edu (original) (raw)
Papers by Amy Cunningham
Topics in clinical nutrition, Oct 1, 2014
Orphanet Journal of Rare Diseases, Jun 22, 2023
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval ... more Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aims to provide recommendations that improve clinical outcomes and promote consistency and best practice in the nutrition management of individuals with PKU receiving pegvaliase therapy. Methodology includes: formulation of a research question; review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature; expert input through Delphi surveys and a Nominal Group process; and external review by metabolic experts. Results Recommendations, summary statements, and strength of evidence are included for each of the following topics: (1) initiating a pegvaliase response trial, (2) monitoring therapy response and nutritional status, (3) managing pegvaliase treatment after response to therapy, (4) education and support for optimal nutrition with pegvaliase therapy, and (5) pegvaliase therapy during pregnancy, lactation, and adolescence. Findings, supported by evidence and consensus, provide guidance for nutrition management of individuals receiving pegvaliase therapy for PKU. Recommendations focus on nutrition management by clinicians, as well as the challenges for individuals with PKU as a result of therapy changes. Conclusions Successful pegvaliase therapy allows the possibility for individuals with PKU to consume an unrestricted diet while still maintaining the benefits of blood phenylalanine control. This necessitates a perspective change in education and support provided to individuals in order to achieve healthy nutrient intake that supports optimal nutritional status. The updated guideline, and companion Toolkit for practical implementation of recommendations, is web-based, allowing for utilization by health care providers, researchers, and collaborators who advocate and care for individuals with PKU. These guidelines are meant to be followed always taking into account the provider's clinical judgement and considering the individual's specific circumstances.
American Journal of Obstetrics and Gynecology, Dec 1, 2003
To assess the efficacy of aspirin for the prevention of preeclampsia using a systematic review of... more To assess the efficacy of aspirin for the prevention of preeclampsia using a systematic review of published randomized clinical trials (RCTs). STUDY DESIGN: We searched the literature for RCTs that probed the use of aspirin prophylaxis during pregnancy and had preeclampsia as one of the outcomes. We excluded studies for poor concealment of allocation and losses to follow-up. Testing for heterogeneity was performed and the random-effects model was used for analysis. Two definitions of high-risk population were used for subgroup analysis: (A) one that included patients with historical risk factors and (B) one found post-hoc to have an incidence of preeclampsia >5% in the placebo arm. RESULTS: We included 34 RCTs (32,854 women) between 1985 and 2003. The use of aspirin was associated with a 13% overall reduction in the risk of preeclampsia (RR = 0.87, 95% CI: 0.8-0.95). Eleven studies enrolled high-risk gravidas by definition A (3639 women, 20% median incidence of preeclampsia in the placebo arm) and 14 by definition B (3579 women, 20.9% median incidence of preeclampsia in the placebo arm). Twenty-three studies enrolled gravidas not at high risk by definition A (29,215 women, 9.3% median incidence of preeclampsia in the placebo arm) or definition B (29,275 women, 8.7% median incidence of preeclampsia in the placebo arm). There was a significant reduction in the risk for preeclampsia in both risk groups with either definition A (high-risk: RR = 0.85, 95%
Genetics in Medicine, Feb 1, 2014
Nutrition therapy, first introduced 6 decades ago, remains the primary treatment for phenylalanin... more Nutrition therapy, first introduced 6 decades ago, remains the primary treatment for phenylalanine hydroxylase (PAH) deficiency. 1-3 The goals of lifelong nutrition therapy include normal physical growth and neurocognitive development, maintenance of adult health, and normal gestational outcomes in pregnant women with PAH deficiency. Knowledge of metabolism, the pathophysiology of PAH deficiency, and the role of nutrition has led to new and improved treatment options, modified lowprotein foods, and medical foods that provide protein equivalents and other nutrients when intact protein food sources must be limited. Table 1 contains definitions of modalities used in the nutrition treatment of aminoacidopathies, including PAH deficiency. Lifelong treatment is recommended because of the negative association between elevated blood phenylalanine (PHE) and neurocognition, yet national nutrition recommendations for PAH deficiency are lacking. The goals of the present evidence-and consensus-based recommendations are to translate current knowledge to patient care, foster more harmonious clinical practices, and promote healthy eating, with the ultimate goal of ensuring better outcomes for individuals with PAH deficiency. This document serves as a companion to the concurrently published American College of Medical Genetics and Genomics (ACMG) guideline for the medical treatment of PAH deficiency. 4 MATERIALS AND METHODS Recommendations were developed by a cooperative effort among Genetic Metabolic Dietitians International, the Southeast Regional Genetics Collaborative, and dietitians from the Diet Control and Management and Maternal PKU Workgroups from the National Institutes of Health Phenylketonuria Scientific Review Conference 2 held in February 2012. The evidence for these recommendations represents the synthesis of information from the National Institutes of Health 2000 (ref. 2) and Agency for Healthcare Research and Quality 2012 (ref. 1) reviews and the literature review completed by the National Institutes of Health Phenylketonuria Scientific Review Conference workgroups.
Orphanet Journal of Rare Diseases
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval ... more Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aims to provide recommendations that improve clinical outcomes and promote consistency and best practice in the nutrition management of individuals with PKU receiving pegvaliase therapy. Methodology includes: formulation of a research question; review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature; expert input through Delphi surveys and a Nominal Group process; and external review by metabolic experts. Results Recommendations, summary statements, and strength of evidence are included for each of the following topics: (1) initiating a pegvaliase response trial, (2) monitoring therapy response and nutritional status, (3) managing pegvaliase treatment ...
Molecular Genetics and Metabolism, 2016
In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency wer... more 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. 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. 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. 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/.
Molecular Genetics and Metabolism, 2016
In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency wer... more 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. 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. 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. 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/.
Genetics in Medicine, 2016
To the Editor: As senior metabolic dietitians who have provided nutritional management for indivi... more To the Editor: As senior metabolic dietitians who have provided nutritional management for individuals with methylmalonic acidemia (MMA), we wish to comment on the recent article by Manoli et al., "A Critical Reappraisal of Dietary Practices in Methylmalonic Acidemia Raises Concerns About the Safety of Medical Foods. Part 1: Isolated Methymalonic Acidemias" 1 , published online in this journal in August 2015. This title is misleading because it seems to imply that poor outcomes are due solely to the use of medical foods. We believe that their study does raise some concerns about some of the current management and monitoring practices 2 in the context of a complex disease that, in many cases, cannot be optimized by diet alone. Medical food, a term created in 1988 by the Orphan Drug Amendments, is defined as "a food formulated to be consumed or administered enterally under the supervision of a physician and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation" (http://medpolicy.ibx.com/policies/mpi. nsf/f12d23cb982d59b485257bad00552d87/85256aa800623d 7a85257bf2004f103f!OpenDocument). Although the authors refer to these products as incomplete proteins, they are technically not proteins but, rather, amino acid mixtures that are formulated to minimize the intake of those amino acids that are not catabolized in a specific metabolic disorder, e.g., the propiogenic amino acids in medical foods designed for MMA or propionic acidemia. Medical foods are never intended to be the sole source of nutrient intake for the individual. Limited intake of dietary intact protein (also referred to as natural protein, food protein, or complete protein) is titrated to provide the required essential amino acids, as well as carbohydrates and fat, to provide a nonprotein energy source. The authors suggest that individuals with MMA may be able to meet their protein needs solely with dietary intact protein. However, this overlooks the fact that many individuals with MMA are poor eaters. This may be due in part to chronic acidosis causing anorexia, neurological sequelae that limit the ability to chew and swallow, or aversion to certain textures and tastes. The use of medical foods (in combination with other dietary components containing the propiogenic amino acids) can provide a consistent energy and nutrient source for these poor eaters or for others during intercurrent illness or metabolic crisis. The authors also failed to address the issue of the biological value/quality 3 of intact or dietary proteins. Proteins derived from plant sources are less likely to be of high biological value and contain limiting amounts of certain essential amino acids. Moreover, these are the very foods-fruits, vegetables, and
Molecular Genetics and Metabolism, 2014
Health and Quality of Life Outcomes, 2017
Background: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism... more Background: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuriaquality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i.e.,
Journal of health psychology, 2015
Health locus of control may be an important predictor of health care utilization. We analyzed ass... more Health locus of control may be an important predictor of health care utilization. We analyzed associations between health locus of control and frequency of emergency department visits and hospital admissions, and investigated self-rated health as a potential mediator. Overall, 863 patients in an urban emergency department completed the Multidimensional Health Locus of Control instrument, and self-reported emergency department use and hospital admissions in the last year. We found small but significant associations between Multidimensional Health Locus of Control and utilization, all of which were mediated by self-rated health. We conclude that interventions to shift health locus of control may change patients' perceptions of their own health, thereby impacting utilization.
Sport, Recreation and Tourism Event Management, 2008
Plant Ecology, 2009
Integrating population and community ecology can improve our understanding of the impacts of natu... more Integrating population and community ecology can improve our understanding of the impacts of natural disturbances. Fire-stimulated flowering occurs in many long-lived herbaceous species of fire-maintained grasslands and savannas. Coexistence of these long-lived species may be affected in part by interspecific differences in the effect of fire-stimulated flowering on resource conservation, clonal growth, and longevity. This study comprised two parts. The
Cognitive Therapy and Research, 2014
Although theorists have posited that suicidal individuals are more likely than non-suicidal indiv... more Although theorists have posited that suicidal individuals are more likely than non-suicidal individuals to experience cognitive distortions, little empirical work has examined whether those who recently attempted suicide are more likely to engage in cognitive distortions than those who have not recently attempted suicide. In the present study, 111 participants who attempted suicide in the 30 days prior to participation and 57 psychiatric control participants completed measures of cognitive distortions, depression, and hopelessness. Findings support the hypothesis that individuals who recently attempted suicide are more likely than psychiatric controls to experience cognitive distortions, even when controlling for depression and hopelessness. Fortune telling was the only cognitive distortion uniquely associated with suicide attempt status. However, fortune telling was no longer significantly associated with suicide attempt status when controlling for hopelessness. Findings underscore the importance of directly targeting cognitive distortions when treating individuals at risk for suicide.
... Amy Cunningham ... the intent to die as a result of the behaviour) (Koons, Robins, Tweed, Lyn... more ... Amy Cunningham ... the intent to die as a result of the behaviour) (Koons, Robins, Tweed, Lynch, Gonzalez, et al., 2001; Linehan, Armstrong, Suarez, Allmon, & Heard, 1991; Linehan, Comtois, Murray, Brown, Gallop, et al., 2006; van den Bosch, Koeter, Stijen, Verheul, & van den ...
Molecular Genetics and Metabolism
Orphanet Journal of Rare Diseases, 2015
The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated f... more The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL). Analyses were exploratory, performed post-hoc on data collected primarily to validate the PKU-QOL. A multicentre, prospective, non-interventional, observational study conducted in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Patients diagnosed with PKU aged ≥9 years old and treated with a Phe-restricted diet and/or Phe-free amino acid protein supplements and/or pharmacological therapy were included in the study; parents of at least one patient with PKU aged <18 years were also included. HRQoL was assessed by generic measures (Pediatric Quality-of-Life Inventory; Medical Outcome Survey 36 item Short Form; Child Health Questionnaire 28 item Parent Form) and the newly developed PKU-QOL. Mean generic domain scores were interpreted using published reference values from the general population. PKU-QOL domain scores were described overall and in different subgroups of patients defined according to severity of PKU, overall assessment of patient's health status by the investigator and treatment with tetrahydrobiopterin (BH4). Data from 559 subjects were analysed: 306 patients (92 children, 110 adolescents, 104 adults) and 253 parents. Mean domain scores of generic measures in the study were comparable to the general population. The highest PKU-QOL impact scores (indicating greater impact) were for emotional impact of PKU, anxiety about blood Phe levels, guilt regarding poor adherence to dietary restrictions or Phe-free amino acid supplement intake and anxiety regarding blood Phe levels during pregnancy. Patients with mild/moderate PKU and those receiving BH4 reported lower practical and emotional impacts of the diet and Phe-free amino acid supplement intake. Patients with PKU showed good HRQoL in the study, both with the generic and PKU-specific measures. Negative impacts of PKU on a patient's life, including the emotional impact of PKU and its management, was delineated by the PKU-QOLs across all age groups.
Topics in clinical nutrition, Oct 1, 2014
Orphanet Journal of Rare Diseases, Jun 22, 2023
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval ... more Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aims to provide recommendations that improve clinical outcomes and promote consistency and best practice in the nutrition management of individuals with PKU receiving pegvaliase therapy. Methodology includes: formulation of a research question; review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature; expert input through Delphi surveys and a Nominal Group process; and external review by metabolic experts. Results Recommendations, summary statements, and strength of evidence are included for each of the following topics: (1) initiating a pegvaliase response trial, (2) monitoring therapy response and nutritional status, (3) managing pegvaliase treatment after response to therapy, (4) education and support for optimal nutrition with pegvaliase therapy, and (5) pegvaliase therapy during pregnancy, lactation, and adolescence. Findings, supported by evidence and consensus, provide guidance for nutrition management of individuals receiving pegvaliase therapy for PKU. Recommendations focus on nutrition management by clinicians, as well as the challenges for individuals with PKU as a result of therapy changes. Conclusions Successful pegvaliase therapy allows the possibility for individuals with PKU to consume an unrestricted diet while still maintaining the benefits of blood phenylalanine control. This necessitates a perspective change in education and support provided to individuals in order to achieve healthy nutrient intake that supports optimal nutritional status. The updated guideline, and companion Toolkit for practical implementation of recommendations, is web-based, allowing for utilization by health care providers, researchers, and collaborators who advocate and care for individuals with PKU. These guidelines are meant to be followed always taking into account the provider's clinical judgement and considering the individual's specific circumstances.
American Journal of Obstetrics and Gynecology, Dec 1, 2003
To assess the efficacy of aspirin for the prevention of preeclampsia using a systematic review of... more To assess the efficacy of aspirin for the prevention of preeclampsia using a systematic review of published randomized clinical trials (RCTs). STUDY DESIGN: We searched the literature for RCTs that probed the use of aspirin prophylaxis during pregnancy and had preeclampsia as one of the outcomes. We excluded studies for poor concealment of allocation and losses to follow-up. Testing for heterogeneity was performed and the random-effects model was used for analysis. Two definitions of high-risk population were used for subgroup analysis: (A) one that included patients with historical risk factors and (B) one found post-hoc to have an incidence of preeclampsia >5% in the placebo arm. RESULTS: We included 34 RCTs (32,854 women) between 1985 and 2003. The use of aspirin was associated with a 13% overall reduction in the risk of preeclampsia (RR = 0.87, 95% CI: 0.8-0.95). Eleven studies enrolled high-risk gravidas by definition A (3639 women, 20% median incidence of preeclampsia in the placebo arm) and 14 by definition B (3579 women, 20.9% median incidence of preeclampsia in the placebo arm). Twenty-three studies enrolled gravidas not at high risk by definition A (29,215 women, 9.3% median incidence of preeclampsia in the placebo arm) or definition B (29,275 women, 8.7% median incidence of preeclampsia in the placebo arm). There was a significant reduction in the risk for preeclampsia in both risk groups with either definition A (high-risk: RR = 0.85, 95%
Genetics in Medicine, Feb 1, 2014
Nutrition therapy, first introduced 6 decades ago, remains the primary treatment for phenylalanin... more Nutrition therapy, first introduced 6 decades ago, remains the primary treatment for phenylalanine hydroxylase (PAH) deficiency. 1-3 The goals of lifelong nutrition therapy include normal physical growth and neurocognitive development, maintenance of adult health, and normal gestational outcomes in pregnant women with PAH deficiency. Knowledge of metabolism, the pathophysiology of PAH deficiency, and the role of nutrition has led to new and improved treatment options, modified lowprotein foods, and medical foods that provide protein equivalents and other nutrients when intact protein food sources must be limited. Table 1 contains definitions of modalities used in the nutrition treatment of aminoacidopathies, including PAH deficiency. Lifelong treatment is recommended because of the negative association between elevated blood phenylalanine (PHE) and neurocognition, yet national nutrition recommendations for PAH deficiency are lacking. The goals of the present evidence-and consensus-based recommendations are to translate current knowledge to patient care, foster more harmonious clinical practices, and promote healthy eating, with the ultimate goal of ensuring better outcomes for individuals with PAH deficiency. This document serves as a companion to the concurrently published American College of Medical Genetics and Genomics (ACMG) guideline for the medical treatment of PAH deficiency. 4 MATERIALS AND METHODS Recommendations were developed by a cooperative effort among Genetic Metabolic Dietitians International, the Southeast Regional Genetics Collaborative, and dietitians from the Diet Control and Management and Maternal PKU Workgroups from the National Institutes of Health Phenylketonuria Scientific Review Conference 2 held in February 2012. The evidence for these recommendations represents the synthesis of information from the National Institutes of Health 2000 (ref. 2) and Agency for Healthcare Research and Quality 2012 (ref. 1) reviews and the literature review completed by the National Institutes of Health Phenylketonuria Scientific Review Conference workgroups.
Orphanet Journal of Rare Diseases
Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval ... more Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy and/or sapropterin. An update of this guideline aims to provide recommendations that improve clinical outcomes and promote consistency and best practice in the nutrition management of individuals with PKU receiving pegvaliase therapy. Methodology includes: formulation of a research question; review, critical appraisal, and abstraction of peer-reviewed studies and unpublished practice literature; expert input through Delphi surveys and a Nominal Group process; and external review by metabolic experts. Results Recommendations, summary statements, and strength of evidence are included for each of the following topics: (1) initiating a pegvaliase response trial, (2) monitoring therapy response and nutritional status, (3) managing pegvaliase treatment ...
Molecular Genetics and Metabolism, 2016
In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency wer... more 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. 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. 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. 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/.
Molecular Genetics and Metabolism, 2016
In 2014, recommendations for the nutrition management of phenylalanine hydroxylase deficiency wer... more 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. 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. 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. 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/.
Genetics in Medicine, 2016
To the Editor: As senior metabolic dietitians who have provided nutritional management for indivi... more To the Editor: As senior metabolic dietitians who have provided nutritional management for individuals with methylmalonic acidemia (MMA), we wish to comment on the recent article by Manoli et al., "A Critical Reappraisal of Dietary Practices in Methylmalonic Acidemia Raises Concerns About the Safety of Medical Foods. Part 1: Isolated Methymalonic Acidemias" 1 , published online in this journal in August 2015. This title is misleading because it seems to imply that poor outcomes are due solely to the use of medical foods. We believe that their study does raise some concerns about some of the current management and monitoring practices 2 in the context of a complex disease that, in many cases, cannot be optimized by diet alone. Medical food, a term created in 1988 by the Orphan Drug Amendments, is defined as "a food formulated to be consumed or administered enterally under the supervision of a physician and which is intended for the specific dietary management of a disease or condition for which distinctive nutritional requirements, based on recognized scientific principles, are established by medical evaluation" (http://medpolicy.ibx.com/policies/mpi. nsf/f12d23cb982d59b485257bad00552d87/85256aa800623d 7a85257bf2004f103f!OpenDocument). Although the authors refer to these products as incomplete proteins, they are technically not proteins but, rather, amino acid mixtures that are formulated to minimize the intake of those amino acids that are not catabolized in a specific metabolic disorder, e.g., the propiogenic amino acids in medical foods designed for MMA or propionic acidemia. Medical foods are never intended to be the sole source of nutrient intake for the individual. Limited intake of dietary intact protein (also referred to as natural protein, food protein, or complete protein) is titrated to provide the required essential amino acids, as well as carbohydrates and fat, to provide a nonprotein energy source. The authors suggest that individuals with MMA may be able to meet their protein needs solely with dietary intact protein. However, this overlooks the fact that many individuals with MMA are poor eaters. This may be due in part to chronic acidosis causing anorexia, neurological sequelae that limit the ability to chew and swallow, or aversion to certain textures and tastes. The use of medical foods (in combination with other dietary components containing the propiogenic amino acids) can provide a consistent energy and nutrient source for these poor eaters or for others during intercurrent illness or metabolic crisis. The authors also failed to address the issue of the biological value/quality 3 of intact or dietary proteins. Proteins derived from plant sources are less likely to be of high biological value and contain limiting amounts of certain essential amino acids. Moreover, these are the very foods-fruits, vegetables, and
Molecular Genetics and Metabolism, 2014
Health and Quality of Life Outcomes, 2017
Background: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism... more Background: Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuriaquality of life (PKU-QOL) questionnaire was the first self-administered disease-specific instrument developed to assess the impact of PKU and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (child, adolescent, adult and parent), the PKU-QOL was simultaneously developed and validated in seven countries [i.e.,
Journal of health psychology, 2015
Health locus of control may be an important predictor of health care utilization. We analyzed ass... more Health locus of control may be an important predictor of health care utilization. We analyzed associations between health locus of control and frequency of emergency department visits and hospital admissions, and investigated self-rated health as a potential mediator. Overall, 863 patients in an urban emergency department completed the Multidimensional Health Locus of Control instrument, and self-reported emergency department use and hospital admissions in the last year. We found small but significant associations between Multidimensional Health Locus of Control and utilization, all of which were mediated by self-rated health. We conclude that interventions to shift health locus of control may change patients' perceptions of their own health, thereby impacting utilization.
Sport, Recreation and Tourism Event Management, 2008
Plant Ecology, 2009
Integrating population and community ecology can improve our understanding of the impacts of natu... more Integrating population and community ecology can improve our understanding of the impacts of natural disturbances. Fire-stimulated flowering occurs in many long-lived herbaceous species of fire-maintained grasslands and savannas. Coexistence of these long-lived species may be affected in part by interspecific differences in the effect of fire-stimulated flowering on resource conservation, clonal growth, and longevity. This study comprised two parts. The
Cognitive Therapy and Research, 2014
Although theorists have posited that suicidal individuals are more likely than non-suicidal indiv... more Although theorists have posited that suicidal individuals are more likely than non-suicidal individuals to experience cognitive distortions, little empirical work has examined whether those who recently attempted suicide are more likely to engage in cognitive distortions than those who have not recently attempted suicide. In the present study, 111 participants who attempted suicide in the 30 days prior to participation and 57 psychiatric control participants completed measures of cognitive distortions, depression, and hopelessness. Findings support the hypothesis that individuals who recently attempted suicide are more likely than psychiatric controls to experience cognitive distortions, even when controlling for depression and hopelessness. Fortune telling was the only cognitive distortion uniquely associated with suicide attempt status. However, fortune telling was no longer significantly associated with suicide attempt status when controlling for hopelessness. Findings underscore the importance of directly targeting cognitive distortions when treating individuals at risk for suicide.
... Amy Cunningham ... the intent to die as a result of the behaviour) (Koons, Robins, Tweed, Lyn... more ... Amy Cunningham ... the intent to die as a result of the behaviour) (Koons, Robins, Tweed, Lynch, Gonzalez, et al., 2001; Linehan, Armstrong, Suarez, Allmon, & Heard, 1991; Linehan, Comtois, Murray, Brown, Gallop, et al., 2006; van den Bosch, Koeter, Stijen, Verheul, & van den ...
Molecular Genetics and Metabolism
Orphanet Journal of Rare Diseases, 2015
The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated f... more The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL). Analyses were exploratory, performed post-hoc on data collected primarily to validate the PKU-QOL. A multicentre, prospective, non-interventional, observational study conducted in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Patients diagnosed with PKU aged ≥9 years old and treated with a Phe-restricted diet and/or Phe-free amino acid protein supplements and/or pharmacological therapy were included in the study; parents of at least one patient with PKU aged <18 years were also included. HRQoL was assessed by generic measures (Pediatric Quality-of-Life Inventory; Medical Outcome Survey 36 item Short Form; Child Health Questionnaire 28 item Parent Form) and the newly developed PKU-QOL. Mean generic domain scores were interpreted using published reference values from the general population. PKU-QOL domain scores were described overall and in different subgroups of patients defined according to severity of PKU, overall assessment of patient's health status by the investigator and treatment with tetrahydrobiopterin (BH4). Data from 559 subjects were analysed: 306 patients (92 children, 110 adolescents, 104 adults) and 253 parents. Mean domain scores of generic measures in the study were comparable to the general population. The highest PKU-QOL impact scores (indicating greater impact) were for emotional impact of PKU, anxiety about blood Phe levels, guilt regarding poor adherence to dietary restrictions or Phe-free amino acid supplement intake and anxiety regarding blood Phe levels during pregnancy. Patients with mild/moderate PKU and those receiving BH4 reported lower practical and emotional impacts of the diet and Phe-free amino acid supplement intake. Patients with PKU showed good HRQoL in the study, both with the generic and PKU-specific measures. Negative impacts of PKU on a patient's life, including the emotional impact of PKU and its management, was delineated by the PKU-QOLs across all age groups.