Issues in Infants with Prader-Will Syndrome: Special Review on Early Dietary Intervention and Early Use of Growth Hormone
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features consist of neonatal hypotonia, distinctive facial features, delayed overall development with mental deficiency, behavioral abnormalities, poor growth in infancy followed by overeating with severe obesity, short stature, and hypogonadism. Recently, patients with PWS have been diagnosed at an earlier age, especially in the neonatal period. In addition,early interventions such as commencement of growth hormone therapy and dietary programs, have received attention in PWS treatment. Since early diagnosis is now possible based on both clinical symptoms and signs and on molecular genetic criteria,early dietary intervention and early growth hormone therapy during the first two years may improve neurodevelopment, increase muscle mass, and reduce obesity. Our aim in this review is to document the characteristics of infants with PWS and to provide a recent update regarding early management.
Abstract
Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features consist of neonatal hypotonia, distinctive facial features, delayed overall development with mental deficiency, behavioral abnormalities, poor growth in infancy followed by overeating with severe obesity, short stature, and hypogonadism. Recently, patients with PWS have been diagnosed at an earlier age, especially in the neonatal period. In addition,early interventions such as commencement of growth hormone therapy and dietary programs, have received attention in PWS treatment. Since early diagnosis is now possible based on both clinical symptoms and signs and on molecular genetic criteria,early dietary intervention and early growth hormone therapy during the first two years may improve neurodevelopment, increase muscle mass, and reduce obesity. Our aim in this review is to document the characteristics of infants with PWS and to provide a recent update regarding early management.
참고문헌 (63)
- Smith A, "Birth prevalence of Prader-Willi syndrome in Australia", Arch Dis Child, 88, pp.263~264 (2003)
- Vogels A, "Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders", Eur J Hum Genet, 12, pp.238~240 (2004)
- Cassidy SB, "Prader-Willi and Angelman syndromes: sister imprinted disorders", Am J Med Genet, 97, pp.136~146 (2000)
- Eiholzer U, "Is there growth hormone deficiency in prader-willi Syndrome? Six arguments to support the presence of hypothalamic growth hormone deficiency in Prader-Willi syndrome", Horm Res, 53(3), pp.44~52 (2000)
- Burman P, "Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH", Endocr Rev, 22, pp.787~799 (2001)
- Wollmann HA, "Reference values for height and weight in Prader- Willi syndrome based on 315 patients", Eur J Pediatr, 157, pp.634~642 (1998)
- Glenn CC, "Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes", Mol Hum Reprod, 3, pp.321~332 (1997)
- Glenn CC, "Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene", Am J Hum Genet, 58, pp.335~346 (1996)
- Kubota T, "Methylation-specific PCR simplifies imprinting analysis", Nat Genet, 16, pp.16~17 (1997)
- Trifiro G, "Neonatal hypotonia: don't forget the Prader-Willi syndrome", Acta Paediatr, 92, pp.1085~1089 (2003)
- Bachere N, "Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants", Horm Res, 69, pp.45~52 (2008)
- Myers SE, "Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits", Am J Med Genet A, 143, pp.443~448 (2007)
- Butler MG, "Standards for selected anthropometric measurements in Prader-Willi syndrome", Pediatrics, 88, pp.853~860 (1991)
- Festen DA, "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), 69, pp.443~451 (2008)
- Lin HY, "Effects of growth hormone treatment on height, weight, and obesity in Taiwanese patients with Prader-Willi syndrome", J Chin Med Assoc, 71, pp.305~309 (2008)
- Angulo MA, "Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment", Am J Med Genet A, 143A, pp.1456~1461 (2007)
- Myers SE, "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, 137, pp.42~49 (2000)
- Carrel AL, "Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study", J Clin Endocrinol Metab, 87, pp.1581~1585 (2002)
- Carrel AL, "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, 95, pp.1131~1136 (2010)
- Marik PE, "Recommendations for the diagnosis and management of corticosteroid insufficiency in critically ill adult patients: consensus statements from an international task force by the American College of Critical Care Medicine", Crit Care Med, 36, pp.1937~1949 (2008)
- Eiholzer U, "Growth hormone and body composition in children younger than 2 years with Prader-Willi syndrome", J Pediatr, 144, pp.753~758 (2004)
- Eiholzer U, "Does growth hormone therapy improve motor development in infants with Prader-Willi syndrome?", Eur J Pediatr, 159, pp.299~ (2000)
- Festen DA, "Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome", Clin Endocrinol (Oxf ), 68, pp.919~925 (2008)
- Adem A, "Gillberg PG, Nordberg A, Winblad B, et al. Insulin-like growth factor 1 (IGF-1) receptors in the human brain: quantitative autoradiographic localization", Brain Res, 503, pp.299~303 (1989)
- Redline S, "Risk factors for sleep-disordered breathing in children. Associations with obesity, race, and respiratory problems", Am J Respir Crit Care Med, 159, pp.1527~1532 (1999)
- Richards A, "The upper airway and sleep apnoea in the Prader- Willi syndrome", Clin Otolaryngol Allied Sci, 19, pp.193~197 (1994)
- Schluter B, "Respiratory control in children with Prader-Willi syndrome", Eur J Pediatr, 156, pp.65~68 (1997)
- Holm VA, "Prader-Willi syndrome: consensus diagnostic criteria", Pediatrics, 91, pp.398~402 (1993)
- Eiholzer U, "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, 63, pp.33~39 (2005)
- Fillion M, "Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome", J Pediatr, 154, pp.230~233 (2009)
- Nixon GM, "Longitudinal association between growth hormone therapy and obstructive sleep apnea in a child with Prader-Willi syndrome", J Clin Endocrinol Metab, 96, pp.29~33 (2011)
- Eiholzer U, "Growth hormone normalises height, prediction of final height and hand length in children with Prader-Willi syndrome after 4 years of therapy", Horm Res, 53, pp.185~192 (2000)
- Colmenares A, "Effects on growth and metabolism of growth hormone treatment for 3 years in 36 children with Prader- Willi syndrome", Horm Res Paediatr, 75, pp.123~130 (2011)
- Ahl T, "Twenty-four-hour growth hormone profiles in pubertal girls with idiopathic scoliosis", Spine (Phila Pa 1976), 13, pp.139~142 (1988)
- Skogland LB, "Growth related hormones in idiopathic scoliosis. An endocrine basis for accelerated growth", Acta Orthop Scand, 51, pp.779~780 (1980)
- Willner S, "Growth hormone and somatomedin A in girls with adolescent idiopathic scoliosis", Acta Paediatr Scand, 65, pp.547~552 (1976)
- de Lind van Wijngaarden RF, "Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome", J Clin Endocrinol Metab, 94, pp.1274~1280 (2009)
- Miller JL, "Nutritional phases in Prader-Willi syndrome", Am J Med Genet A, 155A, pp.1040~1049 (2011)
- Cassidy SB, "Prader-Willi syndrome", Eur J Hum Genet, 17, pp.3~13 (2009)
- Butler JV, "The transition between the phenotypes of Prader-Willi syndrome during infancy and early childhood", Dev Med Child Neurol, 52, pp.e88~e93 (2010)
- McAllister CJ, "Development of the eating behaviour in Prader-Willi Syndrome: advances in our understanding", Int J Obes (Lond), 35, pp.188~197 (2011)
- Brandau DT, "Autistic and dysmorphic features associated with a submicroscopic 2q33.3-q34 interstitial deletion detected by array comparative genomic hybridization", Am J Med Genet A, 146A, pp.521~524 (2008)
- Sahoo T, "Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations", Eur J Hum Genet, 15, pp.943~949 (2007)
- Santamaria R, "Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America", Clin Genet, 71, pp.273~279 (2007)
- Schmidt H, "Successful early dietary intervention avoids obesity in patients with Prader-Willi syndrome: a ten-year follow-up", J Pediatr Endocrinol Metab, 21, pp.651~655 (2008)
- Vaiani E, "Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life", Clin Endocrinol (Oxf), 73, pp.546~550 (2010)
- Festen DA, "Thyroid hormone levels in children with Prader-Willi syndrome before and during growth hormone treatment", Clin Endocrinol (Oxf), 67, pp.449~456 (2007)
- Bray GA, "The Prader-Willi syndrome: a study of 40 patients and a review of the literature", Medicine (Baltimore), 62, pp.59~80 (1983)
- Nagai T, "Cause of sudden, unexpected death of Prader-Willi syndrome patients with or without growth hormone treatment", Am J Med Genet A, 136, pp.45~48 (2005)
- Grugni G, "The Italian National Survey for Prader-Willi syndrome: an epidemiologic study", Am J Med Genet A, 146, pp.861~872 (2008)
- Einfeld SL, "Mortality in Prader-Willi syndrome", Am J Ment Retard, 111, pp.193~198 (2006)
- Tauber M, "Review of 64 cases of death in children with Prader-Willi syndrome (PWS)", Am J Med Genet A, 146, pp.881~887 (2008)
- Corrias A, "Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome", Clin Endocrinol (Oxf) (2011)
- Stephenson JB, "Neonatal presentation of Prader-Willi syndrome", Am J Dis Child, 146, pp.151~152 (1992)
- Hart PS, "Salivary abnormalities in Prader-Willi syndrome", Ann N Y Acad Sci, 842, pp.125~131 (1998)
- Bailleul-Forestier I, "The oro-dental phenotype in Prader- Willi syndrome: a survey of 15 patients", Int J Paediatr Dent, 18, pp.40~47 (2008)
- Bazopoulou-Kyrkanidou E, "Prader-Willi syndrome: report of a case with special emphasis on oral problems", J Clin Pediatr Dent, 17, pp.37~40 (1992)
- Salako NO, "Oral findings in a child with Prader-Labhart-Willi syndrome", Quintessence Int, 26, pp.339~341 (1995)
- Bots CP, "A patient with Prader-Willi syndrome. Characteristics, oral consequences and treatment options", Ned Tijdschr Tandheelkd, 111, pp.55~58 (2004)
- Scardina GA, "Oral diseases in a patient affected with Prader-Willi syndrome", Eur J Paediatr Dent, 8, pp.96~99 (2007)
- Anavi Y, "Prader-Labhart-Willi syndrome", Ann Dent, 49, pp.26~29 (1990)
- Bassarelli V, "The dentomaxillofacial characteristics of the Prader-Labhart- Willi syndrome. A clinical case report", Minerva Stomatol, 40, pp.811~819 (1991)
- Banks PA, "Prader-Willi syndrome--a case report of the multidisciplinary management of theorofacial problems", Br J Orthod, 23, pp.299~304 (1996)
