Early diagnosis and intervention of Prader-Willi syndrome

LUO Xiao-ping; JIN Sheng-juan

doi:10.11852/zgetbjzz2018-26-11-01

PDF(615 KB)

Chinese Journal of Child Health Care ›› 2018, Vol. 26 ›› Issue (11) : 1161-1163. DOI: 10.11852/zgetbjzz2018-26-11-01

Early diagnosis and intervention of Prader-Willi syndrome

LUO Xiao-ping, JIN Sheng-juan

Author information +

History +

Abstract

Prader-Willi syndrome (PWS) is a genomic imprinting defective disorder associated with chromosome 15q11-q3 region. Morbid obesity and its complications, as well as prominent cognitive and behavioral problems have brought huge medical and economic burden to PWS patients, their family and the society. PWS has been recognized in the neonatal period by severe hypotonia and feeding difficulties. In recent years, rapid developments in molecular genetics provide technological support for the diagnosis and genetic typing of PWS. Early diagnosis and management can largely improve the long-term outcome for patients with PWS.

Key words

Prader-Willi syndrome / imprinting defect / hypotonia / diagnosis / intervention

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

LUO Xiao-ping, JIN Sheng-juan. Early diagnosis and intervention of Prader-Willi syndrome[J]. Chinese Journal of Child Health Care. 2018, 26(11): 1161-1163 https://doi.org/10.11852/zgetbjzz2018-26-11-01

References

[1] Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome[J].Genet Med,2012,14(1):10-26.
[2] Butler JV, Whittington JE, Holland AJ, et al. Prevalence of, and risk factors for physical ill-health in people with Prader-Willi syndrome:a population-based study[J].Dev Med Child Neurol,2002,44(4):248-255.
[3] Butler MG, Manzardo AM, Heinemann J, et al. Causes of death in Prader-Willi syndrome:Prader-Willi syndrome association (USA) 40-year mortality survey[J].Genet Med,2017,19(6):635-642.
[4] Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome:Consensus diagnostic criteria[J].Pediatrics,1993,91:398-402.
[5] Whittington J, Holland A, Webb T, et al. Relationship between clinical and genetic diagnosis of Prader-Willi syndrome[J].J Med Genet,2002,39(12):926-932.
[6] 中华医学会儿科学分会内分泌遗传代谢学组, 《中华儿科杂志》编辑委员会.中国Prader-Willi综合征诊治专家共识(2015) [J].中华儿科杂志,2015,53(6):419-424.
[7] Santoro SL, Hashimoto S, McKinney A, et al. Assessing the clinical utility of SNP microarray for Prader-Willi syndrome due to uniparental disomy[J].Cytogenet Genome Res, 2017,152(2):105-109.
[8] McCandless SE, Committee on Genetics.Clinical report health supervision for children with Prader-Willi syndrome[J].Pediatrics,2011,127(1):195-204.
[9] Butler MG. Management of obesity in Prader-Willi syndrome[J].Nat Clin Pract Endocrinol Metab,2006,2(11):592-593.
[10] Haqq AM, Stadler DD, Jackson RH, et al.Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome[J].J Clin Endocrinol Metab, 2003, 88(5):2206-2212.
[11] Abdilla Y, Andria Barbara M, Calleja-Agius J.Prader-Willi syndrome:background and management[J].Neonatal Netw,2017,36(3):134-141.