PDF(2573 KB)
Clinical screening and genetic diagnosis for Prader-Willi syndrome
DONG Guo-Qing, SU Yue-Yue, QIU Xiao-Ying, LU Xi-Yan, LI Jian-Xu, HUANG Miao, LUO Xiao-Ping
Chinese Journal of Contemporary Pediatrics ›› 2020, Vol. 22 ›› Issue (9) : 1001-1006.
PDF(2573 KB)
PDF(2573 KB)
Clinical screening and genetic diagnosis for Prader-Willi syndrome
Objective To study the clinical screening and genetic diagnosis of children suspected of Prader-Willi syndrome (PWS), as well as the differences in the scores of clinical diagnostic criteria among the children with a confirmed diagnosis of PWS. Methods A total of 94 children suspected of PWS who were admitted from July 2016 to December 2018 were enrolled as subjects. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to confirm the diagnosis. For the children with a confirmed diagnosis of PWS, the scores of clinical diagnostic criteria were determined, and the perinatal characteristics were analyzed. Results A total of 11 children with PWS were confirmed by MS-MLPA, with a detection rate of 12%, among whom there were 7 boys and 4 girls, with a median age of 3 years and 4 months (range 25 days to 6 years and 8 months) at the time of confirmed diagnosis. Among the 11 children with PWS, only 5 children (45%) met the criteria for clinical diagnosis. The main perinatal characteristics of the children with PWS were decreased fetal movement (9 cases, 82%), cesarean section birth (11 cases, 100%), hypotonia (11 cases, 100%), feeding difficulties (11 cases, 100%), and weak crying (11 cases, 100%). Conclusions Gene testing should be performed as early as possible for children suspected of PWS by clinical screening. PWS may be missed if only based on the scores of clinical diagnostic criteria.
Prader-Willi syndrome / Methylation-specific multiplex ligation-dependent probe amplification / Gene / Screening / Diagnosis / Child
[1] Cassidy SB, Schwartz S, Miller JL, et al. Prader-Willi syndrome[J]. Genet Med, 2012, 14(1):10-26.
[2] 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.
[3] Irizarry KA, Miller M, Freemark M, et al. Prader Willi syndrome:genetics, metabolomics, hormonal function, and new approaches to therapy[J]. Adv Pediatr, 2016, 63(1):47-77.
[4] 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.
[5] Gunay-Aygun M, Schwartz S, Heeger S, et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria[J]. Pediatrics, 2001, 108(5):E92.
[6] Prader A, Labhart A, Willi H. Ein syndrom von adipositas, kleinwuchs, kryptorchismus und oligophrenia nach myatonieartigem zustand im neugeboralter[J]. Schweiz Med Wochenschr, 1956, 86:1260-1261.
[7] Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome:consensus diagnostic criteria[J]. Pediatrics, 1993, 91(2):398-402.
[8] Tuysuz B, Kartal N, Erener-Ercan T, et al. Prevalence of Prader-Willi syndrome among infants with hypotonia[J]. J Pediatr, 2014, 164(5):1064-1067.
[9] Sanjeeva GN, Maganthi M, Kodishala H, et al. Clinical and molecular characterization of Prader-Willi syndrome[J]. Indian J Pediatr, 2017, 84(11):815-821.
[10] Gold JA, Mahmoud R, Cassidy SB, et al. Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome[J]. Am J Med Genet A, 2018, 176(5):1161-1165.
[11] Bar C, Diene G, Molinas C, et al. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome[J]. Orphanet J Rare Dis, 2017, 12(1):118.
[12] 李洁玲, 曹洁. Prader-Willi综合征46例临床分析[J]. 中国实用儿科杂志, 2017, 32(3):215-219.
[13] Butler MG, Manzardo AM, Forster JL. Prader-Willi syndrome:clinical genetics and diagnostic aspects with treatment approaches[J]. Curr Pediatr Rev, 2016, 12(2):136-166.
[14] 刘舒, 欧阳海梅, 陈暖, 等. 新生儿Prader-Willi综合征14例临床表型与基因型分析[J]. 中国实用儿科杂志, 2018, 33(5):374-376.
[15] 田园, 梁延霄, 麻宏伟. Prader-Willi综合征十例临床分析[J]. 国际儿科学杂志, 2018, 45(5):409-411.
[16] 张娟利, 严琴琴, 蔡玉香, 等. 新生儿Prader-Willi综合征8例临床分析[J]. 中国儿童保健杂志, 2020, 28(4):467-470.
[17] Singh P, Mahmoud R, Gold JA, et al. Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome[J]. J Med Genet, 2018, 55(9):594-598.
[18] 李海霞, 刘克战. Prader-Willi综合征11例新生儿临床诊治及随访分析[J]. 中华新生儿科杂志, 2018, 33(4):283-286.
[19] Geysenbergh B, De Catte L, Vogels A. Can fetal ultrasound result in prenatal diagnosis of Prader-Willi syndrome?[J]. Genet Couns, 2011, 22(2):207-216.
[20] Yang L, Zhou Q, Ma B, et al. Perinatal features of Prader-Willi syndrome:a Chinese cohort of 134 patients[J]. Orphanet J Rare Dis, 2020, 15(1):24.
[21] Shoffstall AJ, Gaebler JA, Kreher NC, et al. The high direct medical costs of Prader-Willi syndrome[J]. J Pediatr, 2016, 175:137-143.
[22] Bacheré N, Diene G, Delagnes V, et al. Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants[J]. Horm Res, 2008, 69(1):45-52.
[23] Tauber M, Diene G, Molinas C. Growth hormone treatment for Prader-Willi syndrome[J]. Pediatr Endocrinol Rev, 2018, 16(Suppl 1):91-99.
[24] Mahmoud R, Singh P, Weiss L, et al. Newborn screening for Prader-Willi syndrome is feasible:early diagnosis for better outcomes[J]. Am J Med Genet A, 2019, 179(1):29-36.
