婴幼儿时期Prader-Willi syndrome喂养困难的研究进展
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摘要
Prader-Willi综合征(PWS)是由于印记基因缺陷所导致的遗传病,该病伴有中枢性肌张力低下,喂养困难,进行性肥胖等问题。喂养困难所导致的营养问题是PWS患儿婴幼儿时期死亡的原因之一。本文对PWS患儿婴幼儿时期产生喂养困难的原因及改善喂养的方法进行了综述,提示PWS患儿染色体片段缺失所造成的功能异常和患儿体内饥饿激素水平的变化是导致喂养困难的主要原因,通过鼻内输注催产素、皮下注射生长激素结合口运动练习,鼻饲胃管等喂养方法可以改善婴幼儿时期PWS患儿的喂养状况,提高营养状况。
Objective Prader-Willi syndrome(PWS) is a genetic disease caused by imprinting genetic defects,which is accompanied by problems such as central hypotonia,feeding difficulties and progressive obesity. Nutritional problems caused by feeding difficulties are one of the causes of infant mortality in PWS children. This review summarizes the reasons of feeding difficulties in infants and young children with PWS and the methods of improving feeding. All the evidence that the dysfunction of chromosomal deficiencies in PWS children and the change of the level of hunger hormones in children are the main causes of feeding difficulty. Intranasal infusion of oxytocin,subcutaneous injection of growth hormone,oral exercise and nasogastric feeding tube feeding method can help infants and young children with PWS feeding difficulties,thereby improving nutritional status.
Objective Prader-Willi syndrome(PWS) is a genetic disease caused by imprinting genetic defects,which is accompanied by problems such as central hypotonia,feeding difficulties and progressive obesity. Nutritional problems caused by feeding difficulties are one of the causes of infant mortality in PWS children. This review summarizes the reasons of feeding difficulties in infants and young children with PWS and the methods of improving feeding. All the evidence that the dysfunction of chromosomal deficiencies in PWS children and the change of the level of hunger hormones in children are the main causes of feeding difficulty. Intranasal infusion of oxytocin,subcutaneous injection of growth hormone,oral exercise and nasogastric feeding tube feeding method can help infants and young children with PWS feeding difficulties,thereby improving nutritional status.
引文
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[23] 中华医学会儿科学分会内分泌遗传代谢学组.基因重组人生长激素儿科临床规范应用的建议[J].中华儿科杂志,2013,51(6):426-432.
[24] Dykens EM,Roof E,Hunt-Hawkins H.Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome[J].Child Psychol Psychiatry,2016,58(1):64-74.
[25] Stephany HD,Layla D,Eva FM, et al.Improved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi Syndrome[J].Clin.Endocrinol Metab,2018,103:3714-3719.
[26] 王志新,刘颖,李静,等.留置胃管的护理研究进展[J].中国实用护理杂志,2013,29(z1):171-172.
[27] 邓锦玲,余景建,莫美女,等.全身抚触联合早期滴服喂养对早产儿喂养不耐受及生长发育的影响[J].护理实践与研究,2017,14(2):85-86.
[28] 潘芳,陈清秀,柳昕,等.1例 Prader-willi 综合征患儿的护理[J].实用临床医药杂志,2014,18(14):155-156..
[29] Viaux-Savelon S,Rosenblum O,Guedeney A,et al.Dyssynchrony and perinatal psychopathology impact of child disease on parents-child interactions,the paradigm of Prader Willi syndrom[J].Physiol Paris,2017,110(4):427-433.
[30] 马霞,高菁.不同喂养方式联合抚触对极低体质量新生儿的影响[J].实用临床医药杂志,2016,20(6):197-198.
[31] 乔立芹,王艳.早期母婴皮肤接触≥1小时对产妇初次实施母乳喂养的影响[J].中外女性健康研究,2016,24(9):10-13.
[2] 中华医学会儿科学分会内分泌遗传代谢学组.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.
[3] Tuysuz B,Kartal N,Erener-Ercan T,et al.Prevalence of Prader-Willi syndrome among infants with hypotonia[J].Pediatr,2014,164(5):1064-1067.
[4] Kerzner B,Milano K, Maclean WC, et al.A practical approach to classifying and managing feeding difficulties[J].Pediatr,2015,135(2):344-353.
[5] 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.
[6] Rodriguez JA,Zigman JM.Hypothalamic loss of Snord116 and Prader-Willi syndrome hyperphagia:the buck stops here?[J].J Clin Invest,2018,128(3):900-902.
[7] Trifirò,G,Livieri,C,Bosio,L,et al.Neonatal hypotonia:don't forget the Prader-Willi syndrome[J].Acta Paediatr,2003,92(9):1085-1089.
[8] Reus L,Zwarts M,van Vlimmeren L A,et al.Motor problems in Prader-Willi syndrome:a systematic review on body composition and neuromuscular functioning[J].Neurosci Biobehav Rev,2011,35(3):956.
[9] 唐军,谷献芳,马友凤.新生儿Prader-Willi综合征误诊分析[J].中国现代药物应用,2014,8(14):11-12.
[10] 詹实娜,何玺玉.遗传相关性肌张力低下的诊断进展[J].中国儿童保健杂志,2012,20(2):151-153.
[11] Miller JL,Lynn CH,Driscoll DC,et al.Nutritional phases in Prader-Willi syndrome[J].Am J Med Genet A,2011,155(5):1040–1049.
[12] 张波.下丘脑Ghrelin的研究概述[J].体育科技文献通报,2017,25(4):153-154.
[13] 张娜,丁艳平,王建林,等.饥饿激素与能量代谢[J].动物营养学报,2015,27(8):2349-2360.
[14] Crinò A,Fintini D,Bocchini S,et al.Obesity management in Prader-Willi syndrome:current perspectives[J].Diabetes Metab Syndr Obes,2018,11:579-593.
[15] Beauloye V,Diene G,Kuppens R,et al.High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome[J].Orphanet J Rare Dis,2016,11(1):56.
[16] 崔菲菲,曹玲.Prader-Willi 综合征和睡眠相关呼吸紊乱的关系[J].国际儿科学杂志,2016,43(9):669-671.
[17] Belengeanu D,Bratu C,Stoian M,et al.The heterogeneity of craniofacial morphology in Prader-Willi patients[J].Rom J Morphol Embryol,2012,53(3):527-532.
[18] Borowitz KC,Borowitz SM.Feeding problems in infants and children:assessment and etiology[J].Pediatr Clin North Am,2018,65(1):59.
[19] 张红兵,张香美,王晓娟,等.婴幼儿拒食症病因及干预措施研究进展[J].中国儿童保健杂志,2014,22(5):497-499.
[20] 赵职卫,徐海青.婴幼儿喂养困难研究进展[J].中国儿童保健杂志,2012,20(2):145-148.
[21] Rice LJ,Einfeld SL,Hu N,et al.A review of clinical trials of oxytocin in Prader-Willi syndrome[J].Curr Opin Psychiatry,2018,31(2):1.
[22] Tauber M,Boulanouar K,Diene G,et al.The use of oxytocin to improve feeding and social skills in infants with Prader-Willi syndrome[J].Pediatr,2017,139(2):e20162976
[23] 中华医学会儿科学分会内分泌遗传代谢学组.基因重组人生长激素儿科临床规范应用的建议[J].中华儿科杂志,2013,51(6):426-432.
[24] Dykens EM,Roof E,Hunt-Hawkins H.Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome[J].Child Psychol Psychiatry,2016,58(1):64-74.
[25] Stephany HD,Layla D,Eva FM, et al.Improved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi Syndrome[J].Clin.Endocrinol Metab,2018,103:3714-3719.
[26] 王志新,刘颖,李静,等.留置胃管的护理研究进展[J].中国实用护理杂志,2013,29(z1):171-172.
[27] 邓锦玲,余景建,莫美女,等.全身抚触联合早期滴服喂养对早产儿喂养不耐受及生长发育的影响[J].护理实践与研究,2017,14(2):85-86.
[28] 潘芳,陈清秀,柳昕,等.1例 Prader-willi 综合征患儿的护理[J].实用临床医药杂志,2014,18(14):155-156..
[29] Viaux-Savelon S,Rosenblum O,Guedeney A,et al.Dyssynchrony and perinatal psychopathology impact of child disease on parents-child interactions,the paradigm of Prader Willi syndrom[J].Physiol Paris,2017,110(4):427-433.
[30] 马霞,高菁.不同喂养方式联合抚触对极低体质量新生儿的影响[J].实用临床医药杂志,2016,20(6):197-198.
[31] 乔立芹,王艳.早期母婴皮肤接触≥1小时对产妇初次实施母乳喂养的影响[J].中外女性健康研究,2016,24(9):10-13.