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普拉德-威利综合征患者体温调节特征的研究。

Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome.

作者信息

Williams M S, Rooney B L, Williams J, Josephson K, Pauli R

机构信息

Gundersen Clinic, LaCrosse, Wisconsin 54601.

出版信息

Am J Med Genet. 1994 Feb 1;49(3):302-7. doi: 10.1002/ajmg.1320490312.

DOI:10.1002/ajmg.1320490312
PMID:8209890
Abstract

A survey instrument is used to assess temperature regulation characteristics in children with Prader-Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children (WC). Significant differences were found between PWS patients, SIB controls, and WC controls in the prevalence of febrile convulsions, fever-associated symptoms, and temperature less than 94 degrees F. No differences were noted in any variable between the PWS patients and the ND controls, suggesting that these abnormalities are not unique to PWS, but can occur in any neurodevelopmentally handicapped individual, further suggesting these do not necessarily reflect syndrome-specific hypothalamic abnormalities.

摘要

使用一种调查工具来评估普拉德-威利综合征(PWS)患儿的体温调节特征,并与3个对照组进行比较:PWS患者的同胞(SIB)、神经发育障碍儿童(ND)以及年龄和性别匹配的健康儿童(WC)。在发热惊厥的患病率、发热相关症状以及体温低于94华氏度方面,PWS患者、SIB对照组和WC对照组之间存在显著差异。PWS患者与ND对照组之间在任何变量上均未发现差异,这表明这些异常并非PWS所特有,而是可能发生在任何神经发育障碍个体中,进一步表明这些异常不一定反映综合征特异性的下丘脑异常。

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