Advances on the treatment of Prader-Willi syndrome

doi:10.11852/zgetbjzz2019-1166

Abstract

Abstract: Prader-willi syndrome is a complex multisystem anomaly caused by imprinted genetic defects in the patent-derived 15q11.2-13 region,which is characterized by a combination of endocrine,metabolic,cognitive,behavioral and psychiatric symptoms.Associated respiratory disorders are highly disruptive to patients' daily lives and are the most common cause of death.Compulsive behavior in order to obtain food can lead to morbid obesity,which has extremely detrimental effects on social function and quality of life.Therefore,reasonable and effective treatment can greatly improve the prognosis of children.

Key words: Prader-Willi syndrome, obesity, dyssomnia, expiratory dyspnea, treatment

摘要： Prader-Willi综合征是由父源的15q11.2-13区域的印记基因缺陷所导致的复杂的多系统异常。其特征是内分泌、代谢、认知、行为和精神症状相结合,相关的呼吸障碍对患者的日常生活具有高度破坏性,也是最常见的死亡原因。患者为了获取食物可表现出强迫性行为,进而出现病态肥胖,这对社会功能和生活质量产生了极其有害的影响。因此,合理、有效的治疗在极大程度上可以改善患儿的预后。

关键词: Prader-Willi综合征, 肥胖, 睡眠障碍, 呼吸困难

CLC Number:

R725.9

WANG Xin, QU Shu-qiang. Advances on the treatment of Prader-Willi syndrome[J]. journal1, 2020, 28(7): 752-755.

王欣, 曲书强. Prader-Willi综合征的治疗进展[J]. 中国儿童保健杂志, 2020, 28(7): 752-755.

References

[1] Angulo MA,Butler MG,Cataletto ME.Prader-Willi syndro me:a review of clinical,genetic,and endocrine findings[J].J Endocrinol Invest,2015,38(12):1249-1263.
[2] Carter CS.Oxytocin pathways and the evolution of human behavior[J].Annu Rev Psychol,2014,65:17-39.
[3] Numan M,Young LJ.Neural mechanisms of mother-infant bonding and pair bonding:Similarities,differences,and broader implications[J].Horm Behav,2016,77:98-112.
[4] Tauber M,Boulanouar K,Diene G,et al.The use of oxytocin to improve feeding and social sills in infants with Prader Willi Syndrome[J].Pediatrics,2017,139(2).doi:10.1542.
[5] Schaaf CP,Gonzalez-Garay ML,Xiao F,et al.Truncating mu tations of MAGEL2 cause Prader-Willi phenotypes and autism[J].Nat Genet,2013,45(11):1405-1408.
[6] Butler MG.Singlegene and syndromic causes of obesity:Illustrative examples[J].Prog Mol Biol Transi Sci,2016,140:1-45.
[7] Haliloglu B,Bereket A.Central control of energy metabolism and hypothalamic obesity pediatric obesity[J].Springer,2018,30:27-42.
[8] Lee JM,Shin J,Kim S,et al.Rapid-onset obseity with hypoventilation,hypothalamic,autonomic dysregulation,and neuroendocrine tumors (ROHHADNET) syndrome [J].BioMed Res Int,2018.doi:10.1155.
[9] McCandless SE,Yanovski JA,Miller G,et al.Effects of Me tAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome:a randomized,double-blind,placebocontrolled trial[J].Diabetes Obes Metab,2017,19(12):1751-1761.
[10] Griggs JL,Mathai ML,Sinnayah P.Caralluma fimbriata extract activity involves the 5-HT2c receptor in PWS Snord116 deletion mouse model[J].Brain Behav,2018,8(12).doi:10.1002.
[11] Polex-Wolf J,Lam BY,Larder R,et al.Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome[J].J Clin Investig,2018,128(3):960-969.
[12] Zhang Z,Shen M,Gresch PJ,et al.Oligonucleotide-induced alternative splicing of serotonin 2C receptor reduces food intake[J].EMBO Mol Med,2016,8(8):878-894.
[13] Knani I,Earlay BJ,Udis S,et al.Targeting the endocannabinoid/CB1 receptor system for treating obesity in Pradere-Willi syndrome[J].Mol Metab,2016,5(12):1187-1199.
[14] Reus L,Pelzer BJ,Otten BJ,et al.Growth hormone combined with child-specific motor training improves motor development in infants with Prader-Willi syndrome:a randomized controlled trial[J].Res Dev Disabil,2013,34(10):3092-3103.
[15] Mahabier EF,Donze SH,Damen L,et al.Improved mental and motor development during 3 years of GH treatment in very young children with prader-willi syndrome[J].J Clin Endocrinol Metab,2018,103(10):3714-3719.
[16] Bakker NE,Kuppens RJ,Festen DA,et al.Eight years of growth hormone treatment in children with Prader-Willi syndrome:maintaining the positive effects[J].J Clinical Endocrinol Metab,2013,98(10):4013-4022.
[17] Kuppens RJ,Bakker NE,Siemensma EP,et al.Beneficialeffects of GH in young adults with Prader-Willi syndrome:a 2-year crossover trial[J].J Clinv Endocrinol Metab,2016,101(11):4110-4116.
[18] Pavone M,Caldarelli V,Khirani S,et al.Sleep disordered breathing in patients with Prader-Willi syndrome:a multicenter study[J].Pediatr pulmonol,2015,50(12):1354-1359.
[19] Sedky K,Bennett DS,Pumariega A,et al.Prader-Willi syndrome and obstructive sleep apnea:co-occurrence in the pediatric population[J].J Clin Sleep Med,2014,10(4):403-409.
[20] Ghergan A,Coupaye M,Attali V,et al.Prevalence and phenotype of sleep disorders in 60 adults with Prader-Willi syndrome[J].Sleep,2017,40(12).doi:10.1093.
[21] Tan HL,Urquhart DS.Respiratorycomplications in children with Prader Willi syndrome[J].Paediatric Respiratory Reviews,2017,22:52-59.
[22] Berini J,Spica Russotto V,Castelnuovo P,et al.Growth hormone therapy and respiratory disorders:long-term follow-up in PWS children[J].J Clin Endocrinol Metab,2013,98(9):1516-1523.
[23] Dauvilliers Y,Bassetti C,Lammers GJ,et al.Pitolisant versus placebo or modafinil in patients with narcolepsy:a double-blind,randomised trial[J].Lancet Neurol,2013,12(11):1068-1075.
[24] Stark H.Histamine H3 receptor antagonists on sleep disturbance[R].9th International Prader-Willi-Syndrome Organisation Conference (IPWSO) Scientific Abstract Booklet,2017,5(34):1-26.
[25] Krishnadas R,Cooper SA,Nicol A,et al.Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader Willi syndrome[J].Br J Psychiatry,2018,212(1):57-58.
[26] Matarazzo1 V,Caccialupi L,Schaller F,et al.Necdin shapes serotonergic development and SERT activity modulating breathing in a mouse model for Prader-Willi syndrome[J].Elife,2017.doi:10.7554.
[27] Crunkhorn S.Genetic disorders:Steps towards epigenetic th erapy for PWS[J].Nat Rev Drug Discov,2017,16(2):85.