The purpose of the current study was to develop syndrome-specific standardized growth curves for growth hormone–treated Prader-Willi syndrome (PWS) individuals aged 0 to 18 years. Anthropometric growth-related measures were obtained on 171 subjects with PWS who were treated with growth hormone for at least 40% of their lifespan. They had no history of scoliosis. PWS standardized growth curves were developed for 7 percentile ranges using the LMS method for weight, height, head circumference, weight/length, and BMI along with normative 3rd, 50th, and 97th percentiles plotted using control data from the literature and growth databases. Percentiles were plotted on growth charts for comparison purposes. Growth hormone treatment appears to normalize stature and markedly improves weight in PWS compared with standardized curves for non–growth hormone–treated PWS individuals. Growth chart implications and recommended usage are discussed.
PraderALabhartAWilliH. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wschr. 1956;86:1260-1261.
2.
ButlerMGLeePDKWhitmanBY, eds. Management of Prader-Willi Syndrome. 3rd ed.New York, NY: Springer-Verlag; 2006.
3.
ButlerMG. Prader-Willi syndrome: obesity due to genomic imprinting. Curr Genomics. 2011:12:204-215.
ButlerMG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990;35:319-332.
6.
ButlerMGThompsonT. Prader-Willi syndrome: clinical and genetic findings. Endocrinologist. 2000;10(suppl 1):3S-16S.
7.
LedbetterDHRiccardiVMAirhartSDStrobelRJKeenanBSCrawfordJD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med. 1981;304:325-329.
8.
ButlerMGPalmerCG. Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet. 1983;321:1285-1286.
9.
ButlerMGMeaneyFJPalmerCG. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet. 1986;23:793-809.
10.
NichollsRDKnollJHButlerMGKaramSLalandeM. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989;342:281-285.
11.
MascariMJGottliebWRoganPK. The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. N Engl J Med. 1992;326:1599-1607.
12.
BuitingKGrossSLichCGillessen-KaesbachGel-MaarriOHorsthemkeB. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003;72:571-577.
13.
OhtaTGrayTARoganPK. Imprinting-mutation mechanisms in Prader-Willi syndrome. Am J Hum Genet. 1999;64:397-413.
WhittingtonJEButlerJVHollandAJ. Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Eur J Hum Genet. 2007;15:127-130.
16.
AnguloMAButlerMGCatalettoME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Encorinol Invest. 2015;38: 1249-1263.
17.
MillerJLLynnCHDriscollDC. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011;155A:1040-1049.
18.
RoofEStoneWMacLeanWFeurerIDThompsonTButlerMG. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000;44(pt 1):25-30.
19.
ButlerMG. Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome. Am J Hum Genet. 1989;45:140-146.
20.
LarsonFVWhittingtonJWebbTHollandAJ. A longitudinal follow-up study of people with Prader-Willi syndrome with psychosis and those at increased risk of developing psychosis due to genetic subtype. Psychol Med. 2014;44:2431-2435.
21.
ButlerMGBittelDCKibiryevaNTalebizadehZThompsonT. Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004;113(3 pt 1):565-573.
22.
HartleySLMacleanWEJrButlerMGZarconeJThompsonT. Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome. Am J Med Genet A. 2005;136:140-145.
23.
ZarconeJNapolitanoDPetersonC. The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res. 2007;51(pt 6):478-487.
24.
ButlerMGSturichJMyersSEGoldJAKimonisVDriscollDJ. Is gestation in Prader-Willi syndrome affected by the genetic subtype?J Assist Reprod Genet. 2009;26:461-466.
25.
ButlerMGSmithBKLeeJ. Effects of growth hormone treatment in adults with Prader-Willi syndrome. Growth Horm IGF Res. 2013;23:81-87.
26.
CarrelALMyersSEWhitmanBYEickhoffJAllenDB. 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;95:1131-1136.
27.
LindgrenACLindbergA. 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;70:182-187.
28.
HaqqAMStadlerDDJacksonRHRosenfeldRGPurnellJQLaFranchiSH. 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;88:2206-2212.
29.
EiholzerUGisinRWeinmannC. 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;157:368-377.
30.
MyersSECarrelALWhitmanBYAllenDB. 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.
31.
AnguloMACastro-MaganaMLamersonMArguelloRAccachaSKhanA. Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A. 2007;143A:1456-1461.
32.
GoldstoneAPHollandAJHauffaBPHokken-KoelegaACTauberM. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008;93:4183-4197.
33.
McCandlessSESaalHMBraddockSR. Clinical report-health supervision for children with Prader-Willi syndrome. Pediatrics. 2011;127:195-204.
34.
HoybyeC. Endocrine and metabolic aspects of adult Prader-Willi syndrome with special emphasis on the effect of growth hormone treatment. Growth Horm IGF Res. 2004;14:1-15.
35.
ButlerMGSturichJLeeJ. Growth standards of infants with Prader-Willi syndrome. Pediatrics. 2011;127:687-695.
36.
RosenbloomSTButlerMG. Development and implementation of electronic growth charts for infants with Prader-Willi syndrome. Am J Med Genet A. 2012;158A:2743-2749.
ButlerMG. Management of obesity in Prader-Willi syndrome. Nat Clin Pract Endocrinol Metab. 2006;2:592-593.
39.
DealCLTonyMHoybyeCAllenDBTauberMChristiansenJS. Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013;98:e1072-e1087.
40.
NellhausG. Head circumference from birth to eighteen years: practical composite international and interracial graphs. Pediatrics. 1968;41:106-114.
41.
ButlerMGTheodoroMSkouseJD. Thyroid function studies in Prader-Willi syndrome. Am J Med Genet A. 2007;143A:488-492.
42.
ButlerMGBrandauDTTheodoroMGargU. Cortisol levels in Prader-Willi syndrome support changes in routine care. Am J Med Genet A. 2009;149A:138-139.
43.
WhittingtonJEHollandAJWebbTButlerJClarkeDBoerH. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK health region. J Med Genet. 2001;38:792-798.
