Nutritional phases in Prader–Willi syndrome
Jennifer L. Miller,Christy H Lynn,Danielle C. Driscoll,Anthony P. Goldstone,Anthony P. Goldstone,June-Anne Gold,Virginia Kimonis,Elisabeth M. Dykens,Merlin G. Butler,Jonathan J. Shuster,Daniel J. Driscoll +10 more
TLDR
The progression of the nutritional phases in PWS is much more complex than previously recognized and awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies.Abstract:
Prader–Willi syndrome (PWS) is a complex neurobehavioral condition which has been classically described as having two nutritional stages: poor feeding, frequently with failure to thrive (FTT) in infancy (Stage 1), followed by hyperphagia leading to obesity in later childhood (Stage 2). We have longitudinally followed the feeding behaviors of individuals with PWS and found a much more gradual and complex progression of the nutritional phases than the traditional two stages described in the literature. Therefore, this study characterizes the growth, metabolic, and laboratory changes associated with the various nutritional phases of PWS in a large cohort of subjects. We have identified a total of seven different nutritional phases, with five main phases and sub-phases in phases 1 and 2. Phase 0 occurs in utero, with decreased fetal movements and growth restriction compared to unaffected siblings. In phase 1 the infant is hypotonic and not obese, with sub-phase 1a characterized by difficulty feeding with or without FTT (ages birth—15 months; median age at completion: 9 months). This phase is followed by sub-phase 1b when the infant grows steadily along a growth curve and weight is increasing at a normal rate (median age of onset: 9 months; age quartiles 5–15 months). Phase 2 is associated with weight gain—in sub-phase 2a the weight increases without a significant change in appetite or caloric intake (median age of onset 2.08 years; age quartiles 20–31 months;), while in sub-phase 2b the weight gain is associated with a concomitant increased interest in food (median age of onset: 4.5 years; quartiles 3–5.25 years). Phase 3 is characterized by hyperphagia, typically accompanied by food-seeking and lack of satiety (median age of onset: 8 years; quartiles 5–13 years). Some adults progress to phase 4 which is when an individual who was previously in phase 3 no longer has an insatiable appetite and is able to feel full. Therefore, the progression of the nutritional phases in PWS is much more complex than previously recognized. Awareness of the various phases will aid researchers in unraveling the pathophysiology of each phase and provide a foundation for developing rational therapies. Counseling parents of newly diagnosed infants with PWS as to what to expect with regard to these nutritional phasesread more
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Journal ArticleDOI
Prader-Willi syndrome
TL;DR: Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype.
Journal ArticleDOI
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings
TL;DR: Updated information regarding the early diagnosis and management of individuals with Prader-Willi syndrome is important for all physicians and will be helpful in anticipating and managing or modifying complications associated with this rare obesity-related disorder.
Journal ArticleDOI
Growth hormone research society workshop summary: Consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome
Cheri Deal,Michele Tony,Charlotte Höybye,David B. Allen,Maithé Tauber,Jens Sandahl Christiansen,Geoffrey R Ambler,Renaldo N. Battista,Véronique Beauloye,Glenn Berall,Beverly M. K. Biller,Merlin G. Butler,Suzanne B. Cassidy,Kazuo Chihara,Pinchas Cohen,Maria E. Craig,Stense Farholt,Mireille M Goetghebeur,Anthony P. Goldstone,Tiziana Greggi,Graziano Grugni,Anita C. S. Hokken-Koelega,Gudmundur Johannsson,Keegan Johnson,Alex R. Kemper,John J. Kopchick,Saul Malozowski,Jennifer L. Miller,Harriette R. Mogul,Françoise Muscatelli,Ricard Nergårdh,Robert D. Nicholls,Sally Radovick,M. Sara Rosenthal,Ilkka Sipilä,Jean-Eric Tarride,Annick Vogels,Michael J. Waters +37 more
TL;DR: Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions.
Journal ArticleDOI
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
TL;DR: This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management and best practice treatment approaches for Prader-Willi Syndrome.
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Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.
TL;DR: In this paper, the melanocortin 4 receptor (MC4R)-linked obesity is characterized by the variable severity of obesity and no notable additional phenotypes, and specific treatments are available only for specific types of monogenic obesity, such as leptin deficiency.
References
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Book
Advanced Nutrition and Human Metabolism
TL;DR: The Cell: A Microcosm of Life and the Digestive System: Mechanisms for Nourishing the body and the Impact of Exercise and Sport are presented.
Journal ArticleDOI
Prader-Willi syndrome
TL;DR: Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial features; early-childhood onset obesity and hyperphagia; developmental delay/mild intellectual disability; short stature; and a distinctive behavioral phenotype.
Journal ArticleDOI
Body fat reference curves for children
TL;DR: To refine the diagnosis of childhood obesity by creating new sex-specific centile curves for body fat and to base these references on a simple and affordable method that could be widely adopted in clinical practice and surveys.
Journal ArticleDOI
Prader–Willi syndrome
TL;DR: Prader–Willi syndrome is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity.
Journal ArticleDOI
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
TL;DR: A retrospective review of patients with PWS confirmed with genetic testing to assess the validity and sensitivity of clinical diagnostic criteria published before the widespread availability of testing for all affected patients and recommend revised clinical criteria.