GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome

Cheri L Deal, Michèle Tony, Charlotte Höybye, David B Allen, Maïthé Tauber, Jens Sandahl Christiansen, 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants, Geoffrey R Ambler, Renaldo Battista, Véronique Beauloye, Glenn Berall, Beverly M K Biller, Merlin G Butler, Suzanne B Cassidy, Kazuo Chihara, Pinchas Cohen, Maria Craig, Stense Farholt, Mireille Goetghebeur, Anthony P Goldstone, Tiziana Greggi, Graziano Grugni, Anita C Hokken-Koelega, Gudmundur Johannsson, Keegan Johnson, Alex Kemper, John J Kopchick, Saul Malozowski, Jennifer 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, Cheri L Deal, Michèle Tony, Charlotte Höybye, David B Allen, Maïthé Tauber, Jens Sandahl Christiansen, 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants, Geoffrey R Ambler, Renaldo Battista, Véronique Beauloye, Glenn Berall, Beverly M K Biller, Merlin G Butler, Suzanne B Cassidy, Kazuo Chihara, Pinchas Cohen, Maria Craig, Stense Farholt, Mireille Goetghebeur, Anthony P Goldstone, Tiziana Greggi, Graziano Grugni, Anita C Hokken-Koelega, Gudmundur Johannsson, Keegan Johnson, Alex Kemper, John J Kopchick, Saul Malozowski, Jennifer 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

Abstract

Context: Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups since its approval in the United States in 2000 and in Europe in 2001. Its use in PWS represents a unique therapeutic challenge that includes treating individuals with cognitive disability, varied therapeutic goals that are not focused exclusively on increased height, and concerns about potential life-threatening adverse events.

Objective: The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS.

Evidence: We performed a systematic review of the clinical evidence in the pediatric population, including randomized controlled trials, comparative observational studies, and long-term studies (>3.5 y). Adult studies included randomized controlled trials of rhGH treatment for ≥ 6 months and uncontrolled trials. Safety data were obtained from case reports, clinical trials, and pharmaceutical registries.

Methodology: Forty-three international experts and stakeholders followed clinical practice guideline development recommendations outlined by the AGREE Collaboration (www.agreetrust.org). Evidence was synthesized and graded using a comprehensive multicriteria methodology (EVIDEM) (http://bit.ly.PWGHIN).

Conclusions: 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. Cognitive impairment should not be a barrier to treatment, and informed consent/assent should include benefit/risk information. Exclusion criteria should include severe obesity, uncontrolled diabetes mellitus, untreated severe obstructive sleep apnea, active cancer, or psychosis. Clinical outcome priorities should vary depending upon age and the presence of physical, mental, and social disability, and treatment should be continued for as long as demonstrated benefits outweigh the risks.

References

    1. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14(1):10–26
    1. Butler MG. Prader-Willi syndrome: obesity due to genomic imprinting. Curr Genomics. 2011;12(3):204–215
    1. Whittington JE, Butler JV, Holland AJ. Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Eur J Hum Genet. 2007;15(1):127–130
    1. Eiholzer U, Stutz K, Weinmann C, Torresani T, Molinari L, Prader A. Low insulin, IGF-I and IGFBP-3 levels in children with Prader-Labhart-Willi syndrome. Eur J Pediatr. 1998;157(11):890–893
    1. Tauber M, Barbeau C, Jouret B, et al. Auxological and endocrine evolution of 28 children with Prader-Willi syndrome: effect of GH therapy in 14 children. Horm Res. 2000;53(6):279–287
    1. Corrias A, Bellone J, Beccaria L, et al. GH/IGF-I axis in Prader-Willi syndrome: evaluation of IGF-I levels and of the somatotroph responsiveness to various provocative stimuli. Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology. J Endocrinol Invest. 2000;23(2):84–89
    1. Hoybye C, Frystyk J, Thoren M. The growth hormone-insulin-like growth factor axis in adult patients with Prader Willi syndrome. Growth Horm IGF Res. 2003;13(5):269–274
    1. Grugni G, Crino A, Pagani S, et al. Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2011;24(7–8):477–481
    1. Bekx MT, Carrel AL, Shriver TC, Li Z, Allen DB. Decreased energy expenditure is caused by abnormal body composition in infants with Prader-Willi syndrome. J Pediatr. 2003;143(3):372–376
    1. Diene G, Mimoun E, Feigerlova E, et al. Endocrine disorders in children with Prader-Willi syndrome—data from 142 children of the French database. Horm Res Paediatr. 2010;74(2):121–128
    1. Grugni G, Crino A, Bertocco P, Marzullo P. Body fat excess and stimulated growth hormone levels in adult patients with Prader-Willi syndrome. Am J Med Genet A. 2009;149A(4):726–731
    1. Grugni G, Giardino D, Crino A, et al. Growth hormone secretion among adult patients with Prader-Willi syndrome due to different genetic subtypes. J Endocrinol Invest. 2011;34(7):493–497
    1. van Nieuwpoort IC, Sinnema M, Castelijns JA, Twisk JW, Curfs LM, Drent ML. The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome. Horm Res Paediatr. 2011;75(6):403–411
    1. Lee PD, Wilson DM, Rountree L, Hintz RL, Rosenfeld RG. Linear growth response to exogenous growth hormone in Prader-Willi syndrome. Am J Med Genet. 1987;28(4):865–871
    1. Burman P, Ritzen EM, Lindgren AC. Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev. 2001;22(6):787–799
    1. Tauber M, Diene G, Molinas C, Hebert M. Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet A. 2008;146(7):881–887
    1. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008;93(11):4183–4197
    1. McCandless SE; Committee on Genetics Clinical report: health supervision for children with Prader-Willi syndrome. Pediatrics. 2011;127(1):195–204
    1. Craig ME, Johnson AM, Cowell CT. Recombinant growth hormone in Prader-Willi syndrome (protocol). The Cochrane Library. 2009;(4):1–7
    1. de Lind van Wijngaarden RF, Festen DA, Otten BJ, et al. Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial. J Clin Endocrinol Metab. 2009;94(10):3763–3771
    1. de Lind van Wijngaarden RF, de Klerk LW, Festen DA, Duivenvoorden HJ, Otten BJ, Hokken-Koelega AC. Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2009;94(4):1274–1280
    1. de Lind van Wijngaarden RF, Cianflone K, Gao Y, Leunissen RW, Hokken-Koelega AC. Cardiovascular and metabolic risk profile and acylation-stimulating protein levels in children with Prader-Willi syndrome and effects of growth hormone treatment. J Clin Endocrinol Metab. 2010;95(4):1758–1766
    1. Festen DA, van Toorenenbergen A, Duivenvoorden HJ, Hokken-Koelega AC. Adiponectin levels in prepubertal children with Prader-Willi syndrome before and during growth hormone therapy. J Clin Endocrinol Metab. 2007;92(4):1549–1554
    1. Festen DA, de Lind van Wijngaarden R, van Eekelen M, et al. Randomized controlled GH trial: effects on anthropometry, body composition and body proportions in a large group of children with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2008;69(3):443–451
    1. Festen DA, Wevers M, Lindgren AC, et al. Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2008;68(6):919–925
    1. Myers SE, Whitman BY, Carrel AL, Moerchen V, Bekx MT, Allen DB. Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A. 2007;143(5):443–448
    1. Reus L, Zwarts M, van Vlimmeren LA, Willemsen MA, Otten BJ, Nijhuis-van der Sanden MW. Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning. Neurosci Biobehav Rev. 2011;35(3):956–969
    1. Sanchez-Ortiga R, Klibanski A, Tritos NA. Effects of recombinant human growth hormone therapy in adults with Prader-Willi syndrome: a meta-analysis. Clin Endocrinol (Oxf). 2011;77(1):86–93
    1. Sode-Carlsen R, Farholt S, Rabben KF, Bollerslev J, Schreiner T, Jurik AG, Christiansen JS, Hoybye C. One year of growth hormone treatment in adults with Prader-Willi syndrome improves body composition: results from a randomized, placebo-controlled study. J Clin Endocrinol Metab. 2010;95(11):4943–4950
    1. Goetghebeur MM, Wagner M, Khoury H, Levitt RJ, Erickson LJ, Rindress D. Evidence and Value: impact on DEcisionMaking—the EVIDEM framework and potential applications. BMC Health Serv Res. 2008;8:270.
    1. Goetghebeur MM, Wagner M, Khoury H, Rindress D, Gregoire JP, Deal C. Combining multicriteria decision analysis, ethics and health technology assessment: applying the EVIDEM decisionmaking framework to growth hormone for Turner syndrome patients. Cost Eff Resour Alloc. 2010;8:4.
    1. National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research The Belmont Report: ethical principles and guidelines for the protection of human subjects of research. Department of Health, Education, and Welfare. . Updated April 18, 1979 Accessed October 5, 2011
    1. Carrel AL, Myers SE, Whitman BY, Allen DB. Growth hormone improves body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome: a controlled study. J Pediatr. 1999;134(2):215–221
    1. Carrel AL, Moerchen V, Myers SE, Bekx MT, Whitman BY, Allen DB. Growth hormone improves mobility and body composition in infants and toddlers with Prader-Willi syndrome. J Pediatr. 2004;145(6):744–749
    1. Haqq AM, Stadler DD, Jackson RH, Rosenfeld RG, Purnell JQ, LaFranchi SH. Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome. J Clin Endocrinol Metab. 2003;88(5):2206–2212
    1. Hauffa BP. One-year results of growth hormone treatment of short stature in Prader-Willi syndrome. Acta Paediatr Suppl. 1997;423:63–65
    1. Lindgren AC, Hagenas L, Muller J, et al. Effects of growth hormone treatment on growth and body composition in Prader-Willi syndrome: a preliminary report. The Swedish National Growth Hormone Advisory Group. Acta Paediatr Suppl. 1997;423:60–62
    1. Lindgren AC, Hagenas L, Muller J, et al. Growth hormone treatment of children with Prader-Willi syndrome affects linear growth and body composition favourably. Acta Paediatr. 1998;87(1):28–31
    1. Myers SE, Carrel AL, Whitman BY, Allen DB. Physical effects of growth hormone treatment in children with Prader-Willi syndrome. Acta Paediatr Suppl. 1999;88(433):112–114
    1. Myers SE, Carrel AL, Whitman BY, Allen DB. Sustained benefit after 2 years of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome. J Pediatr. 2000;137(1):42–49
    1. Whitman B, Carrel A, Bekx T, Weber C, Allen D, Myers S. Growth hormone improves body composition and motor development in infants with Prader-Willi syndrome after six months. J Pediatr Endocrinol Metab. 2004;17(4):591–600
    1. Angulo MA, Castro-Magana M, Lamerson M, Arguello R, Accacha S, Khan A. Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A. 2007;143A(13):1456–1461
    1. Carrel AL, Myers SE, Whitman BY, Eickhoff J, Allen DB. Long-term growth hormone therapy changes the natural history of body composition and motor function in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2010;95(3):1131–1136
    1. Eiholzer U, L'Allemand D, Schlumpf M, Rousson V, Gasser T, Fusch C. Growth hormone and body composition in children younger than 2 years with Prader-Willi syndrome. J Pediatr. 2004;144(6):753–758
    1. Eiholzer U, Meinhardt U, Rousson V, Petrovic N, Schlumpf M, L'Allemand D. Developmental profiles in young children with Prader-Labhart-Willi syndrome: effects of weight and therapy with growth hormone or coenzyme Q10. Am J Med Genet A. 2008;146(7):873–880
    1. Fillion M, Deal C, Van Vliet G. Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome. J Pediatr. 2009;154(2):230–233
    1. Galassetti P, Saetrum OO, Cassidy SB, Pontello A. Nutrient intake and body composition variables in Prader-Willi syndrome—effect of growth hormone supplementation and genetic subtype. J Pediatr Endocrinol Metab. 2007;20(4):491–500
    1. Nyunt O, Harris M, Hughes I, Huynh T, Davies PS, Cotterill AM. Benefit of early commencement of growth hormone therapy in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2009;22(12):1151–1158
    1. Carrel AL, Myers SE, Whitman BY, Allen DB. Sustained benefits of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome are dose-dependent. J Pediatr Endocrinol Metab. 2001;14(8):1097–1105
    1. Carrel AL, Myers SE, Whitman BY, Allen DB. Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study. J Clin Endocrinol Metab. 2002;87(4):1581–1585
    1. de Lind van Wijngaarden RF, Siemensma EP, Festen DA, et al. Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2009;94(11):4205–4215
    1. Eiholzer U, l'Allemand D, van der Sluis I, Steinert H, Gasser T, Ellis K. Body composition abnormalities in children with Prader-Willi syndrome and long-term effects of growth hormone therapy. Horm Res. 2000;53(4):200–206
    1. Eiholzer U, l'Allemand D. Growth hormone normalises height, prediction of final height and hand length in children with Prader-Willi syndrome after 4 years of therapy. Horm Res. 2000;53(4):185–192
    1. Eiholzer U, Meinhardt U, Gallo C, Schlumpf M, Rousson V, l'Allemand D. Association between foot growth and musculoskeletal loading in children with Prader-Willi syndrome before and during growth hormone treatment. J Pediatr. 2009;154(2):225–229
    1. Lindgren AC, Ritzen EM. Five years of growth hormone treatment in children with Prader-Willi syndrome. Swedish National Growth Hormone Advisory Group. Acta Paediatr Suppl. 1999;88(433):109–111
    1. Lindgren AC, Lindberg A. Growth hormone treatment completely normalizes adult height and improves body composition in Prader-Willi syndrome: experience from KIGS (Pfizer International Growth Database). Horm Res. 2008;70(3):182–187
    1. Obata K, Sakazume S, Yoshino A, Murakami N, Sakuta R. Effects of 5 years growth hormone treatment in patients with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2003;16(2):155–162
    1. Sipila I, Sintonen H, Hietanen H, et al. Long-term effects of growth hormone therapy on patients with Prader-Willi syndrome. Acta Paediatr. 2010;99(11):1712–1718
    1. Hoybye C, Hilding A, Jacobsson H, Thoren M. Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2003;58(5):653–661
    1. Hoybye C, Thoren M, Bohm B. Cognitive, emotional, physical and social effects of growth hormone treatment in adults with Prader-Willi syndrome. J Intellect Disabil Res. 2005;49(Pt 4):245–252
    1. Bertella L, Mori I, Grugni G, et al. Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study. J Intellect Disabil Res. 2007;51(Pt 4):302–311
    1. Hoybye C. Five-years growth hormone (GH) treatment in adults with Prader-Willi syndrome. Acta Paediatr. 2007;96(3):410–413
    1. Marzullo P, Marcassa C, Campini R, et al. Conditional cardiovascular response to growth hormone therapy in adult patients with Prader-Willi syndrome. J Clin Endocrinol Metab. 2007;92(4):1364–1371
    1. Mogul HR, Lee PD, Whitman BY, et al. Growth hormone treatment of adults with Prader-Willi syndrome and growth hormone deficiency improves lean body mass, fractional body fat, and serum triiodothyronine without glucose impairment: results from the United States multicenter trial. J Clin Endocrinol Metab. 2008;93(4):1238–1245
    1. EVIDEM Collaboration Knowledge to action. Growth hormone therapy for patients with Prader-Willi syndrome. Workshop web site and multicriteria registry of evidence and quality assessments. . Updated December 19, 2011 Accessed September 14, 2012
    1. Centre for Evidence Based Medicine OCEBM levels of evidence system, version 2. . Updated June 10, 2010 Accessed August 31, 2010
    1. EVIDEM Collaboration Open access prototypes of the EVIDEM Collaborative registry. . Updated May 26, 2010 Accessed June 29, 2010
    1. Angulo M, Castro-Magana M, Mazur B, Canas JA, Vitollo PM, Sarrantonio M. Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 1996;9(3):393–400
    1. Costeff H, Holm VA, Ruvalcaba R, Shaver J. Growth hormone secretion in Prader-Willi syndrome. Acta Paediatr Scand. 1990;79(11):1059–1062
    1. Davies PS, Evans S, Broomhead S, et al. Effect of growth hormone on height, weight, and body composition in Prader-Willi syndrome. Arch Dis Child. 1998;78(5):474–476
    1. Tauber M, Cutfield W. KIGS highlights: growth hormone treatment in Prader-Willi syndrome. Horm Res. 2007;68(suppl 5):48–50
    1. Thacker MJ, Hainline B, Dennis-Feezle L, Johnson NB, Pescovitz OH. Growth failure in Prader-Willi syndrome is secondary to growth hormone deficiency. Horm Res. 1998;49(5):216–220
    1. Sinnema M, Boer H, Collin P, et al. Psychiatric illness in a cohort of adults with Prader-Willi syndrome. Res Dev Disabil. 2011;32(5):1729–1735
    1. Katz-Salamon M, Lindgren AC, Cohen G. The effect of growth hormone on sleep-related cardio-respiratory control in Prader-Willi syndrome. Acta Paediatr. 2012;101(6):643–648
    1. Menendez AA. Abnormal ventilatory responses in patients with Prader-Willi syndrome. Eur J Pediatr. 1999;158(11):941–942
    1. Schluter B, Buschatz D, Trowitzsch E, Aksu F, Andler W. Respiratory control in children with Prader-Willi syndrome. Eur J Pediatr. 1997;156(1):65–68
    1. Williams K, Scheimann A, Sutton V, Hayslett E, Glaze DG. Sleepiness and sleep disordered breathing in Prader-Willi syndrome: relationship to genotype, growth hormone therapy, and body composition. J Clin Sleep Med. 2008;4(2):111–118
    1. Bakker B, Maneatis T, Lippe B. Sudden death in Prader-Willi syndrome: brief review of five additional cases. Concerning the article by U. Eiholzer et al.: Deaths in children with Prader-Willi syndrome. A contribution to the debate about the safety of growth hormone treatment in children with PWS (Horm Res 2005;63:33–39). Horm Res. 2007;67(4):203–204
    1. Eiholzer U, Nordmann Y, l'Allemand D. Fatal outcome of sleep apnoea in PWS during the initial phase of growth hormone treatment. A case report. Horm Res. 2002;58(suppl 3):24–26
    1. Grugni G, Livieri C, Corrias A, Sartorio A, Crino A. Death during GH therapy in children with Prader-Willi syndrome: description of two new cases. J Endocrinol Invest. 2005;28(6):554–557
    1. Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab. 2006;91(2):413–417
    1. Riedl S, Blumel P, Zwiauer K, Frisch H. Death in two female Prader-Willi syndrome patients during the early phase of growth hormone treatment. Acta Paediatr. 2005;94(7):974–977
    1. Van Vliet G, Deal CL, Crock PA, Robitaille Y, Oligny LL. Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr. 2004;144(1):129–131
    1. Clayton PE, Banerjee I, Murray PG, Renehan AG. Growth hormone, the insulin-like growth factor axis, insulin and cancer risk. Nat Rev Endocrinol. 2011;7(1):11–24
    1. Carel JC, Ecosse E, Landier F, et al. Long-term mortality after recombinant growth hormone treatment for isolated growth hormone deficiency or childhood short stature: preliminary report of the French SAGhE study. J Clin Endocrinol Metab. 2012;97(2):416–425
    1. Savendahl L, Maes M, Albertsson-Wikland K, et al. Long-term mortality and causes of death in isolated GHD, ISS, and SGA patients treated with recombinant growth hormone during childhood in Belgium, The Netherlands, and Sweden: preliminary report of 3 countries participating in the EU SAGhE study. J Clin Endocrinol Metab. 2012;97(2):E213–E217
    1. Malozowski S. Reports of increased mortality and GH: will this affect current clinical practice? J Clin Endocrinol Metab. 2012;97(2):380–383
    1. Rosenfeld RG, Cohen P, Robison LL, et al. Long-term surveillance of growth hormone therapy. J Clin Endocrinol Metab. 2012;97(1):68–72
    1. de Lind van Wijngaarden RF, Otten BJ, Festen DA, et al. High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome. J Clin Endocrinol Metab. 2008;93(5):1649–1654
    1. Farholt S, Sode-Carlsen R, Christiansen JS, Ostergaard JR, Hoybye C. Normal cortisol response to high-dose synacthen and insulin tolerance test in children and adults with Prader-Willi syndrome. J Clin Endocrinol Metab. 2010;96(1):E173–E180
    1. Nyunt O, Cotterill AM, Archbold SM, et al. Normal cortisol response on low-dose synacthen (1 microg) test in children with Prader Willi syndrome. J Clin Endocrinol Metab. 2010;95(12):E464–E467
    1. Takeda A, Cooper K, Bird A, et al. Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation. Health Technol Assess. 2010;14(42):1-iv
    1. Colmenares A, Pinto G, Taupin P, et al. Effects on growth and metabolism of growth hormone treatment for 3 years in 36 children with Prader-Willi syndrome. Horm Res Paediatr. 2010;75(2):123–130
    1. Eiholzer U, Gisin R, Weinmann C, et al. Treatment with human growth hormone in patients with Prader-Labhart-Willi syndrome reduces body fat and increases muscle mass and physical performance. Eur J Pediatr. 1998;157(5):368–377
    1. Feigerlova E, Diene G, Oliver I, et al. Elevated insulin-like growth factor-I values in children with Prader-Willi syndrome compared with growth hormone (GH) deficiency children over two years of GH treatment. J Clin Endocrinol Metab. 2010;95(10):4600–4608
    1. Chernausek SD, Backeljauw PF, Frane J, Kuntze J, Underwood LE. Long-term treatment with recombinant insulin-like growth factor (IGF)-I in children with severe IGF-I deficiency due to growth hormone insensitivity. J Clin Endocrinol Metab. 2007;92(3):902–910
    1. Sode-Carlsen R, Farholt S, Rabben KF, et al. Growth hormone treatment for two years is safe and effective in adults with Prader-Willi syndrome. Growth Horm IGF Res. 2011;21(4):185–190
    1. Hoybye C. Inflammatory markers in adults with Prader-Willi syndrome before and during 12 months growth hormone treatment. Horm Res. 2006;66(1):27–32
    1. Child CJ, Zimmermann AG, Scott RS, Cutler GB, Jr, Battelino T, Blum WF. Prevalence and incidence of diabetes mellitus in GH-treated children and adolescents: analysis from the GeNeSIS Observational Research Program. J Clin Endocrinol Metab. 2011;96(6):E1025–E1034
    1. Cohen P, Germak J, Rogol AD, Weng W, Kappelgaard AM, Rosenfeld RG. Variable degree of growth hormone (GH) and insulin-like growth factor (IGF) sensitivity in children with idiopathic short stature compared with GH-deficient patients: evidence from an IGF-based dosing study of short children. J Clin Endocrinol Metab. 2010;95(5):2089–2098
    1. Cabrol S, Perin L, Colle M, et al. Evolution of IGF-1 in children born small for gestational age and with growth retardation, treated by growth hormone adapted to IGF-1 levels after 1 year. Horm Res Paediatr. 2011;76(6):419–427
    1. Grugni G, Crino A, Bosio L, et al. The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet A. 2008;146(7):861–872
    1. Lindgren AC, Hellstrom LG, Ritzen EM, Milerad J. Growth hormone treatment increases CO(2) response, ventilation and central inspiratory drive in children with Prader-Willi syndrome. Eur J Pediatr. 1999;158(11):936–940
    1. Haqq AM, Muehlbauer MJ, Newgard CB, Grambow S, Freemark M. The metabolic phenotype of Prader-Willi syndrome (PWS) in childhood: heightened insulin sensitivity relative to body mass index. J Clin Endocrinol Metab. 2011;96(1):E225–E232
    1. Sode-Carlsen R, Farholt S, Rabben KF, et al. Body composition, endocrine and metabolic profiles in adults with Prader-Willi syndrome. Growth Horm IGF Res. 2010;20(3):179–184
    1. Brambilla P, Crino A, Bedogni G, et al. Metabolic syndrome in children with Prader-Willi syndrome: the effect of obesity. Nutr Metab Cardiovasc Dis. 2011;21(4):269–276
    1. Wysokinski A, Kowman M, Kloszewska I. The prevalence of metabolic syndrome and Framingham cardiovascular risk scores in adult inpatients taking antipsychotics—a retrospective medical records review. Psychiatr Danub. 2012;24(3):314–322
    1. Goldstone AP, Thomas EL, Brynes AE, et al. Visceral adipose tissue and metabolic complications of obesity are reduced in Prader-Willi syndrome female adults: evidence for novel influences on body fat distribution. J Clin Endocrinol Metab. 2001;86(9):4330–4338
    1. Craig ME, Cowell CT, Larsson P, et al. Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clin Endocrinol (Oxf). 2006;65(2):178–185
    1. Siemensma EP, de Lind van Wijngaarden RF, Otten BJ, de Jong FH, Hokken-Koelega AC. Pubarche and serum dehydroepiandrosterone sulfate levels in children with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2011;75(1):83–89
    1. Sopher AB, Jean AM, Zwany SK, et al. Bone age advancement in prepubertal children with obesity and premature adrenarche: possible potentiating factors. Obesity (Silver Spring). 2011;19(6):1259–1264
    1. Siemensma EP, Tummers-de Lind van Wijngaarden RF, Festen DA, et al. Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study. J Clin Endocrinol Metab. 2012;97(7):2307–2314
    1. Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011;155A(5):1040–1049
    1. Butler MG, Lee PD, Whitman B. Management of Prader-Willi syndrome. 3rd ed New York: Springer Science Business Media Inc.; 2006
    1. Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader-Willi syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993
    1. Reus L, van Vlimmeren LA, Bart SJ, Otten BJ, Nijhuis-van der Sanden MW. The effect of growth hormone treatment or physical training on motor performance in Prader-Willi syndrome: a systematic review. Neurosci Biobehav Rev. 2012;36(8):1817–1838
    1. Grolla E, Andrighetto G, Parmigiani P, et al. Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes. Disabil Rehabil. 2011;33(19–20):1837–1847
    1. Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W. Critical analysis of bariatric procedures in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr. 2008;46(1):80–83
    1. Antal S, Levin H. Biliopancreatic diversion in Prader-Willi syndrome associated with obesity. Obes Surg. 1996;6(1):58–62
    1. Buchwald H; Consensus Conference Panel Consensus conference statement bariatric surgery for morbid obesity: health implications for patients, health professionals, and third-party payers. Surg Obes Relat Dis. 2005;1(3):371–381
    1. Marceau P, Marceau S, Biron S, et al. Long-term experience with duodenal switch in adolescents. Obes Surg. 2010;20(12):1609–1616
    1. Marinari GM, Camerini G, Novelli GB, et al. Outcome of biliopancreatic diversion in subjects with Prader-Willi syndrome. Obes Surg. 2001;11(4):491–495
    1. Papavramidis ST, Kotidis EV, Gamvros O. Prader-Willi syndrome-associated obesity treated by biliopancreatic diversion with duodenal switch. Case report and literature review. J Pediatr Surg. 2006;41(6):1153–1158
    1. Bird S. Capacity to consent to treatment. Aust Fam Physician. 2011;40(4):249–250
    1. De Lourdes LM, Larcher V, Kurz R. Informed consent/assent in children. Statement of the Ethics Working Group of the Confederation of European Specialists in Paediatrics (CESP). Eur J Pediatr. 2003;162(9):629–633
    1. Informed consent, parental permission, and assent in pediatric practice. Committee on Bioethics, American Academy of Pediatrics. Pediatrics. 1995;95(2):314–317
    1. Lau DC; Obesity Canada Clinical Practice Guidelines Steering Committee and Expert Panel Synopsis of the 2006 Canadian clinical practice guidelines on the management and prevention of obesity in adults and children. CMAJ. 2007;176(8):1103–1106
    1. August GP, Caprio S, Fennoy I, et al. Prevention and treatment of pediatric obesity: an Endocrine Society Clinical Practice Guideline based on expert opinion. J Clin Endocrinol Metab. 2008;93(12):4576–4599
    1. Australian Government Department of Health and Ageing Obesity guidelines. . Updated July 31, 2009 Accessed August 31, 2011
    1. Padwal R, Kezouh A, Levine M, Etminan M. Long-term persistence with orlistat and sibutramine in a population-based cohort. Int J Obes (Lond). 2007;31(10):1567–1570
    1. Greenway FL, Dunayevich E, Tollefson G, et al. Comparison of combined bupropion and naltrexone therapy for obesity with monotherapy and placebo. J Clin Endocrinol Metab. 2009;94(12):4898–4906
    1. Lee MW, Fujioka K. Naltrexone for the treatment of obesity: review and update. Expert Opin Pharmacother. 2009;10(11):1841–1845
    1. Padwal R. Contrave, a bupropion and naltrexone combination therapy for the potential treatment of obesity. Curr Opin Investig Drugs. 2009;10(10):1117–1125
    1. Plodkowski RA, Nguyen Q, Sundaram U, Nguyen L, Chau DL, St Jeor S. Bupropion and naltrexone: a review of their use individually and in combination for the treatment of obesity. Expert Opin Pharmacother. 2009;10(6):1069–1081
    1. Zipf WB, Berntson GG. Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone. Am J Clin Nutr. 1987;46(2):277–281
    1. Shapira NA, Lessig MC, Murphy TK, Driscoll DJ, Goodman WK. Topiramate attenuates self-injurious behaviour in Prader-Willi syndrome. Int J Neuropsychopharmacol. 2002;5(2):141–145
    1. Smathers SA, Wilson JG, Nigro MA. Topiramate effectiveness in Prader-Willi syndrome. Pediatr Neurol. 2003;28(2):130–133
    1. De Waele K, Ishkanian SL, Bogarin R, et al. Long-acting octreotide treatment causes a sustained decrease in ghrelin concentrations but does not affect weight, behaviour and appetite in subjects with Prader-Willi syndrome. Eur J Endocrinol. 2008;159(4):381–388
    1. Haqq AM, Farooqi IS, O'Rahilly S, et al. Serum ghrelin levels are inversely correlated with body mass index, age, and insulin concentrations in normal children and are markedly increased in Prader-Willi syndrome. J Clin Endocrinol Metab. 2003;88(1):174–178
    1. Haqq AM, Stadler DD, Rosenfeld RG, et al. Circulating ghrelin levels are suppressed by meals and octreotide therapy in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2003;88(8):3573–3576
    1. Tan TM, Vanderpump M, Khoo B, Patterson M, Ghatei MA, Goldstone AP. Somatostatin infusion lowers plasma ghrelin without reducing appetite in adults with Prader-Willi syndrome. J Clin Endocrinol Metab. 2004;89(8):4162–4165
    1. Tzotzas T, Papazisis K, Perros P, Krassas GE. Use of somatostatin analogues in obesity. Drugs. 2008;68(14):1963–1973
    1. Motaghedi R, Lipman EG, Hogg J, Christos PJ, Vogiatz MG, Angulo MA. Psychiatric adverse effects of rimonobant with adults with Prader-Willi syndrome. Eur J Med Genet. 2010;54(1):14–18
    1. Purtell L, Sze L, Loughnan G, et al. In adults with Prader-Willi syndrome, elevated ghrelin levels are more consistent with hyperphagia than high PYY and GLP-1 levels. Neuropeptides. 2011;45(4):301–307
    1. Sze L, Purtell L, Jenkins A, et al. Effects of a single dose of exenatide on appetite, gut hormones, and glucose homeostasis in adults with Prader-Willi syndrome. J Clin Endocrinol Metab. 2011;96(8):E1314–E1319

Source: PubMed

Sponsorzy i współpracownicy

Warunki medyczne

Interwencje lekowe

3
Subskrybuj