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普拉德-威利综合征的精神药理学遗传学方面

Psychopharmacogenetic aspects of Prader-Willi syndrome.

作者信息

Tu J B, Hartridge C, Izawa J

机构信息

Children's Psychiatric Research Institute (CPRI), London, Ontario, Canada.

出版信息

J Am Acad Child Adolesc Psychiatry. 1992 Nov;31(6):1137-40. doi: 10.1097/00004583-199211000-00024.

DOI:10.1097/00004583-199211000-00024
PMID:1429418
Abstract

The study of genes, drugs, and behavior in three male adolescents with Prader-Willi syndrome (PWS) revealed a clinical profile that raises questions about the indications for neuroleptic and appetite-suppressing medications in this condition. Evidence of the inadvisability of neuroleptic medication and of the pathophysiology of PWS has led to a remarkable control of violent outbursts and hyperphagia by carbamazepine in one patient afflicted with both PWS and Klinefelter's syndrome. Testosterone and behavioral therapy proved to be useful in the management of two patients. The present observations, which are supported by recent advances in the pathophysiology of satiety, suggest that PWS should be understood as a metabolic disorder and subjected to psychopharmacogenetic study.

摘要

对三名患有普拉德-威利综合征(PWS)的男性青少年的基因、药物和行为研究揭示了一种临床特征,这引发了关于在这种情况下使用抗精神病药物和食欲抑制药物的适应症的问题。抗精神病药物不可取的证据以及PWS的病理生理学已导致卡马西平对一名同时患有PWS和克兰费尔特综合征的患者的暴力发作和食欲亢进有显著控制。睾酮和行为疗法被证明对两名患者的治疗有用。目前的观察结果得到了饱腹感病理生理学最新进展的支持,表明PWS应被理解为一种代谢紊乱,并应进行精神心理药物遗传学研究。

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1
Psychopharmacogenetic aspects of Prader-Willi syndrome.普拉德-威利综合征的精神药理学遗传学方面
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Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.普拉德-威利综合征的精神药物治疗:对已发表文献的批判性综述
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Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study.睾酮替代疗法改善成年男性 Prader-Willi 综合征患者的第二性征和身体成分,而无不良行为问题:一项观察性研究。
Am J Med Genet A. 2013 Sep;161A(9):2167-73. doi: 10.1002/ajmg.a.36048. Epub 2013 Jul 29.

引用本文的文献

1
Psychiatric disorders in Prader-Willi syndrome: epidemiology and management.普拉德-威利综合征中的精神障碍:流行病学与管理
CNS Drugs. 2003;17(3):167-78. doi: 10.2165/00023210-200317030-00003.
2
Hyperphagia and self-mutilation in Prader-Willi syndrome: psychopharmacological issues.普拉德-威利综合征中的多食与自残行为:心理药理学问题
Eat Weight Disord. 1998 Dec;3(4):163-7. doi: 10.1007/BF03340005.
3
Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?
普拉德-威利综合征患者中的克兰费尔特综合征和X三体综合征与15号染色体单亲母源二体——是巧合吗?
Am J Med Genet. 1997 Oct 3;72(1):111-4.