Disease management of Prader–Willi syndrome

REFERENCES

• PRADER A, LABHART A, WILLI H: Emn syndrom von adipositas, kleinwuchs, kryptorchismus und oligophrenie nach myotonieartigem zustand im neugegeborenalter. Schweiz. Med. Wochenschr. (1956) 86:1260–1261.
   Google Scholar
• LAURANCE BM: Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in a child. Arch. Dis. Child (1967) 42:126–149.
   PubMed Web of Science ®Google Scholar
• ZELLWEGER H, SCHNEIDER HJ: Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi-syndrome. Am. I Dis. Child (1968) 115:588–599.
   PubMedGoogle Scholar
• HOLM VA, CASSIDY DB, BUTLER MG,et al.: Prader-Willi sydrome. Consensus diagnostic criteria. Pediatrics (1993) 91:398–402.
   Google Scholar
• •The first and most important attempt to establish clinical diagnostic criteria for PWS.
   Google Scholar
• GUNAY-AYGUN M, SCHWARTZ S, HEEGERS, ORIORDAN MA, CASSIDY SB: The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics (2001) 108(5):e92.
   PubMed Web of Science ®Google Scholar
• LEDBETTER DH, RICCARDI VM, AIRHARD SD, STROBEL RJ, KEENAN BS, CRAWFORD JD: Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl. I Med. (1981) 304:325–329.
   PubMed Web of Science ®Google Scholar
• BUTLER MG, PALMER CG: Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet (1983) 1:1285–1286.
   PubMed Web of Science ®Google Scholar
• NICHOLLS RD, KNOLL JH, BUTLERMG, KARAM S, LALANDE M: Genetic imprinting suggested by maternal uniparental disomy in nondeletion Prader-Willi syndrome. Nature (1989) 342:281–285.
   PubMed Web of Science ®Google Scholar
• Diagnostic testing for Prader-Willi and Angelman syndromes: report of the ASHG/ ACMG Test and Technology Transfer Committee. Am. Hum. Genet. (1996) 58:1085–1088.
   PubMed Web of Science ®Google Scholar
• •An important consensus statement that established molecular testing as a diagnostic criterion for PWS
   Google Scholar
• BUTLER MG, THOMPSON T: Prader-Willi syndrome: clinical and genetic findings. Endocrinologist (2000) 10\(Suppl. 1):35–165.
   Google Scholar
• •A comprehensive and fairly current review of the genetics of PWS
   Google Scholar
• LEE PDK: Endocrine and metabolic aspects of Prader-Willi syndrome. In: Management of Prader- WilliSyndrome, 2nd edition. LG Greenswag, RC Alexander (Eds), Springer-Verlag, New York, NY, USA (1995):32–57.
   Google Scholar
• LEE PDK: Effects of growth hormone treatment in children with Prader-Willi syndrome. Growth Horm. IGF Res. (2000) (Suppl. B):577–581.
   Google Scholar
• AFFI AK, ZELLWEGER H: Pathology of muscular hypotonia in the Prader-Willi syndrome. Light and electron microscopic study. J. Neurol Sci (1969) 9:49–61.
   Google Scholar
• SONE S: Muscle histochemistry in the Prader-Willi syndrome. Brain Dev. (1994) 16:183–188.
   PubMed Web of Science ®Google Scholar
• BRAMBILLA P, BOSIO L, MANZONI P, PIETROBELLI A, BECCARIA L, CHIUMELLO G: Peculiar body composition in patients with Prader-Labhart-Willi syndrome. Am. j Clin. Nutr. (1997) 65:1369–1374.
   PubMed Web of Science ®Google Scholar
• EIHOLZER U, BLUM WF, MOLINARI L: Body fat determined by skinfold measurements is elevated despite underweight in infants with Prader-Labhart-Willi syndrome. j. Pediatr. (1999) 134:222–225.
   PubMed Web of Science ®Google Scholar
• HOLM VA, LAURNEN EL: Prader-Willi syndrome and scoliosis. Dev. Med. Child Neurol (1981) 23:192–201.
   PubMed Web of Science ®Google Scholar
• BUTLER JV, WHITTINGTON JE, HOLLAND AJ, BOER H, CLARKE D, WEBB T: Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev. Med. Child Neurol (2002) 44:248–255.
   PubMed Web of Science ®Google Scholar
• BRAY GA, DAHMS WT, SWERDLOFF RS, RISER RH, ATKINSON RL, CARREL RE: The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine (1983) 60:59–80.
   Google Scholar
• •An important early review of PWS that provided important insights and new clinical information about the condition.
   Google Scholar
• BUTLER MG, MEANEY FJ: Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics (1989) 88:853–860.
   Web of Science ®Google Scholar
• WOLLMAN HA, SCHULTZ U, GRAUER ML, RANKE MB: Reference values for height and weight in Prader-WIlli syndrome based on 315 patients. Ear: Pediatr. (1998) 57:634–642.
   Google Scholar
• HAUFFA BP, SCHLIPPE G, ROOS M, GILLESEN-KAESBACH G, GASSER T: Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome. Acta Paediatr. (2000) 89:1302–1311.
   PubMed Web of Science ®Google Scholar
• NAGAI T, MATSUO N, KUYANUMA Y et al.: Standard growth curves for Japanese patients with Prader-Willi syndrome. Am. Med. Genet. (2000) 95:130–134.
   PubMed Web of Science ®Google Scholar
• HAKONARSON H, MOSKOVITZ J, DIAGLE KL, CASSIDY SB, CLOUTIER MM: Pulmonary function abnormalities in Prader-Will syndrome. j Pediatr. (1995) 126:565–570.
   PubMed Web of Science ®Google Scholar
• GREENSWAG LR: Adults with Prader-Willi syndrome: a survey of 232 cases. Dev. Med. Child Neurol (1987) 29:149–152.
   Web of Science ®Google Scholar
• THEODORIDIS CG, BROWN GA, CHANCE GW, RUDD BT: Plasma growth hormone levels in children with the Prader-Willi syndrome. Aust. Pediatr. .1 (1971) 7:24–27.
   PubMedGoogle Scholar
• PARRA A, CERVANTES C, SCHULTZ RB: Immunoreactive insulin and growth hormone responses in patyients with Prader-Willi syndrome. j. Pediatr. (1973) 83:587–593.
   PubMed Web of Science ®Google Scholar
• CACCIARI E, CICOGNANI A, PIRAZZOLI P, ZAPPULLA F, SALAERDI S, BERNARDI F: Relationships among the secretion of ACTH, GH, and cortisol during the insulin induced hypoglycemia test in normal and obese child. J. Clin. Endcrinol. Metab. (1975) 40:802–806.
   PubMed Web of Science ®Google Scholar
• VAN VLIET G, BOSSON D, RUMMENS E, ROBYN C, WOLTER R: Evidence against growth hormone-releasing factor deficiency in children with idiopathic obesity. Acta Endocrinol (1986) (Suppl. Copenhagen) 279:403–410.
   Google Scholar
• SALMON WD, DAUGHADAY WH: A hormonally controlled serum factor which stimulates sulfate incorporation by cartilage in vivo. Lab. Clin. Med. (1957) 49:825–836.
   PubMed Web of Science ®Google Scholar
• LEE PDK, ROSENFELD RG: Clinical utility of insulin-like growth factor assays. Pediatrician (1987) 14:154–161.
   PubMedGoogle Scholar
• LEE PDK, WILSON DM, ROUNTREE L, HINTZ RL, ROSENFELD RG: Linear growth response to exogenous growth hormone in Prader-Willi syndrome. Am. Med. Genet. (1987) 28:865–871.
   PubMed Web of Science ®Google Scholar
• LEE PDK, WILSON DM, HINTZ RL, ROSENFELD RG: Growth hormone treatment of short stature in Prader-Willi syndrome. j. Pediatr. Endocrinol. (1987) 2:31–34.
   Google Scholar
• RADETTI G, BOZZOLA M, PASQUINO B, et al.: Growth hormone bioactivity, insulin-like growth factors (IGN), and IGF binding proteins in obese children. Metabolism (1998) 47:1490–1493.
   Google Scholar
• SCACCHI M, PINCELLI Al, CAVAGNINI F: Growth hormone in obesity. Int. I Obes. Relat. Metab. Disord. (1999) 23:260–271.
   PubMed Web of Science ®Google Scholar
• PARK MJ, KIM HS, KANG JH, KIM DH, CHUNG CY: Serum levels of insulin-like growth factor (IGF)-I, free IGF-I, IGF-binding protein (IGTBP)-1, IGFBP-3 and insulin in obese children.' Pediatr. Endocrinol. Metab. (1999) 12:139–144.
   PubMed Web of Science ®Google Scholar
• WU RH, ST LOUIS Y, RUBIN K, CASSIDY SC, THROPY MJ, SAENGER P: Growth hormone therapy in Prader-Willi syndrome (PWS). Pediatr. Res. (1988) 23 (4, Suppl. part 2):207A. Abstract.
   Google Scholar
• RUVALCABA RH, HOLM V: Effects of growth hormone in Prader- Willi syndrome. A case report. Clin. Pediatr. (1993) 32:292–295.
   Google Scholar
• TRYGSTAD 0, VEIMO D: Growth hormone treatment in Prader-Labhart-Willi syndrome. Pediatr. Res. (1993) 33(Suppl.):40A.
   Google Scholar
• ANGULO M, CASTRO-MAGANA M, UY J: Pituitary evaluation and growth hormone treatment in Prader-Willi syndrome. I Pediatr. Endocrinol. (1991) 4:167–173.
   Google Scholar
• ANGULO M, CASTRO-MAGANA M, MAZUR B, CANAS JA, VITOLLO PM, SARRANTONIO M: Growth hormone secretion and effects of growth hormone on growth velocity and weight gain in children with Prader-Willi syndrome. Paediatr. Endocrinol. Metab. (1996) 9:393–400.
   PubMed Web of Science ®Google Scholar
• COSTEFF H, HOLM CA, RUVALCABA R, SHAVER J: Growth hormone secretion in Prader Willi syndrome. Acta Paediatr. Scand. (1990) 79:1059–1062.
   PubMed Web of Science ®Google Scholar
• LEE PDK, HWU K, BROWN B, GREENBERG F, KLISH W: Endocrine investigations in children with Prader-Willi syndrome. Dysmorphology Clin. Genet. (1992) 6:27–28.
   Google Scholar
• LEE PDK, HWU K, HENSON H et al: Body composition studies in Prader-Willi syndrome (PWS): effects of growth hormone (GH) therapy. Basic Life Sci. (1993) 60:201–206.
   PubMedGoogle Scholar
• HAUFFA BP: One-year results of growth hormone treatment of short stature in Prader-Willi syndrome. Acta Paediatr. Scand. Stipp]. (1997) 423:63–65.
   PubMedGoogle Scholar
• 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. Scand. (1998) 87:28–31.
   PubMed Web of Science ®Google Scholar
• LINDGREN AC, RITZEN EM: Five years of growth hormone treatment in children with Prader-Willi syndrome. Swedish Growth Hormone Advisory Group. Acta Paediatr. Scand. (1999) 433(suppl.):109–111.
   Google Scholar
• 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: Paediatr. (1998) 157:368–377.
   PubMed Web of Science ®Google Scholar
• 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. Ear: J. Pediatr. (1998) 157:890–893.
   Google Scholar
• EIHOLZER U: Prader-Willi Syndrome. Effects of Growth Hormone Treatment Karger, Basel, Switzerland (2001).
   Google Scholar
• BURMAN P, RITZEN EM, LINDGREN AC: Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr. Rev (2001) 22:787–799.
   PubMed Web of Science ®Google Scholar
• •Perhaps the most comprehensive current review of PWS, particularly in relation to GH therapy, with several sets of before/ after treatment photographs.
   Google Scholar
• CARREL A, 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.' Pediatr. (1999) 134:215–221.
   Web of Science ®Google Scholar
• 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) 137:42–49.
   PubMed Web of Science ®Google Scholar
• CARREL AL, MYERS SE, WHITMAN BY, ALLEN DB: Benefits of long-term GH terhapy in Prader-Willi syndrome: a 4-year study. Pediatrics (2002) 87:1581–1585.
   Google Scholar
• •The latest update from an important ongoing prospective study of GH efficacy and dosage in children with PWS
   Google Scholar
• LEE PDK, ALLEN DB, ANGULO MA et al.: Consensus statement-Prader Will syndrome: growth hormone (GH)/insulin-like growth factor axis deficiency and GH treatment. Endocrinologist (2000) 10\(Suppl. 1):715–745.
   Google Scholar
• ELLIS KJ: Human body composition: in vivo methods. Physiol. Rev (2000) 80:649–680.
   PubMed Web of Science ®Google Scholar
• •A comprehensive review of human body composition methodology, providing important information for clinicians who utilise these techniques in children.
   Google Scholar
• ELLIS KJ, SCHEIMANN A, LEE PDK: Body composition measurement: clinical and technical considerations. Endocrinologist (2000) 10\(Suppl. 1):575–625.
   Google Scholar
• MAYNARD LM, WISEMANDLE W, ROCHE AF, CHUMLEA WC, GUO SS, SIERVOGEL RM: Childhood body composition in relation to body mass index. Pediatrics (2001) 107:344–350.
   PubMed Web of Science ®Google Scholar
• LINDGREN AC: Side effects of growth hormone treatment in Prader-Willi syndrome. Endocrinologist (2000) 10\(Suppl. 1):63S–64S.
   Google Scholar
• BURGERT TS, VUGUIN PM, DIMARTINO-NARDI J, ATTIE KM, SAENGER P: Assessing insulin resistance: application of a fasting glucose to insulin ratio in growth hormone-treated children. florin. Res. (2002) 57:37–42.
   Google Scholar
• MOGUL HR, MEDHI M, ZHANG S, SOUTHREN AL: Prader-Willi syndrome in adults. Endocrinologist (2000) 10\(Suppl. 1):65S–70S.
   Google Scholar
• PARTSCH CJ, LAMMER C, GILLESSEN-KAESBACH G, PANKAU R: Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth florin. IGF Res (2000) 10(Suppl. B):S81–S85.
   Google Scholar
• VANCE M: From fixed to individual dosing in growth hormone-deficient adults. florin. Res. (2001) 56\(Suppl. 1):35–37.
   Google Scholar
• AKEFELDT A, TORNHAGE CJ, GILLBERG C: A woman with Prader-Willi syndrome gives birth to a healthy baby girl. Dev. Med. Child Neurol (1999) 41:789–790.
   PubMed Web of Science ®Google Scholar
• WHITMAN B, GREENSWAG LR: The use of psychotropic medications in persons with Prader-Willi syndrome. In: Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. Cassidy S (Ed.), Springer Verlag, New York, NY, USA (1992).
   Google Scholar
• KOHN Y, WEIZMAN A, APTER A: Aggravation of food-related behavior in an adolescent with Prader-Willi syndrome treated with fluoxamine and fluoxetine. Int. J. Eat. Disord. (2001) 30:113–117.
   PubMed Web of Science ®Google Scholar
• EIHOLZER U: A comprehensive team approach to the management of Prader-Willi syndrome. International Prader- WilliSyndrome Organization Workshop. St. Julians, Malta (24 April 2001). Summary.
   Google Scholar
• OHASHI T, TAKEDA K, MORIOKA M et al: Endocrinolgical study on Prader-Willi syndrome: report of four cases and review of literature. Nippon Hinyokika Gakkai Zasshi (1980) 71:999–1009
   PubMedGoogle Scholar
• NOZAKI Y, KATOH K: Endocrinological abnormalities in Prader-Willi syndrome. Acta Paediatr. Japan (1981) 23:301–306.
   Google Scholar