Rubin Daniela A, Elies Adam, Camerino Claudia
Department of Kinesiology, California State University Fullerton, 800 N. State College Blvd, Fullerton, CA 92834, USA.
Department of Precision and Regenerative Medicine, School of Medicine, University of Bari Aldo Moro, P.za 6 G. Cesare 11, 70100 Bari, Italy.
Reports (MDPI). 2025 Sep 2;8(3):168. doi: 10.3390/reports8030168.
Prader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder caused by an alteration of the paternal chromosome 15q11-q13. Youth with PWS present hyperphagia, increased fat/decreased muscle mass, hypotonia, and decreased metabolic rate with risk of obesity. Thermoregulation problems have been previously reported with hypothermia in adults or hyperthermia in children/infants with PWS. We retrospectively examined a cohort of 44 youths with PWS, 8-16 years old, presenting with a medical history of temperature dysregulation (TD), hypothermia or hyperthermia. Participants with (n = 10) and without (n = 34) a history of TD were compared for anthropometrics, body composition, medical history, and motor characteristics. Youth with TD presented with hypothermia (n = 8), hyperthermia (n = 2), or both conditions (n = 2). Non-parametric statistics showed no significant differences in age, anthropometrics, body composition, or motor characteristics between the groups ( ≥ 0.064). Those with TD presented with a higher frequency of sleep apnea versus those without (50% vs. 18%; = 0.038). The prevalence of TD in the cohort was one in five youth with PWS, suggesting that the problem is not isolated. The results do not suggest that anthropometrics, body composition, or motor characteristics explain differences in temperature excursions in youths with PWS. Possible physiological mechanisms and future research are discussed.
普拉德-威利综合征（PWS）是一种由父源15号染色体q11-q13区域改变引起的遗传性神经发育障碍。患有PWS的青少年表现出食欲亢进、脂肪增加/肌肉量减少、肌张力减退以及代谢率降低并有肥胖风险。此前已有报道称，患有PWS的成年人存在体温过低问题，儿童/婴儿则存在体温过高问题。我们对44名年龄在8至16岁、有体温调节障碍（TD）、体温过低或体温过高病史的PWS青少年进行了回顾性研究。比较了有TD病史（n = 10）和无TD病史（n = 34）的参与者的人体测量学、身体成分、病史和运动特征。有TD的青少年表现为体温过低（n = 8）、体温过高（n = 2）或两种情况都有（n = 2）。非参数统计显示，两组在年龄、人体测量学、身体成分或运动特征方面无显著差异（≥0.064）。与没有TD的青少年相比，有TD的青少年睡眠呼吸暂停的发生率更高（50%对18%；P = 0.038）。该队列中TD的患病率为每五名PWS青少年中有一名，这表明该问题并非个例。结果并不表明人体测量学、身体成分或运动特征能够解释PWS青少年体温波动的差异。文中讨论了可能的生理机制及未来的研究方向。
