Braun Sina, Laemmer Constanze, Schulte Sandra, Gohlke Bettina
Department of Paediatric Endocrinology and Diabetology, Children`s Hospital, University of Bonn, Venusberg Campus 1, Building 30, 53127, Bonn, Germany.
Paediatric Endocrinology, Dept. of Paediatrics and Adolescent Medicine, KJF Klinikum Josefinum, Joseph-Mayer-Straße 1, 86154, Augsburg, Germany.
Orphanet J Rare Dis. 2024 Dec 13;19(1):461. doi: 10.1186/s13023-024-03447-9.
To evaluate the impact of coronavirus disease 2019 (COVID-19) on polysomnographic evaluation in patients with Prader-Willi syndrome (PWS).
A retrospective cohort study of two consecutive overnight polysomnograms (PSG) in 92 PWS patients (mean age 9.1, range 3.1-22 years). 57/92 participants (35 female) had a COVID-19 infection between the two consecutive examinations. 35 patients (21 female) had no infection (control group). Distribution of genetics was as follows: 13/57 (22.8%) deletion, 19/57 (33.3%) uniparental disomy, 2/57 (3,5%) imprinting defect, 3/57 (5.3%) non-deletion, 20/57 (35.1%) diagnosed by analyses of the methylation pattern of chromosome 15q11-13. Mean time interval between COVID-19 infection and post-COVID-19 evaluation was 96.2 days.
Course of COVID-19 infection was asymptomatic 8/82 (9.8%), mild 63/82 (76.8%), medium 11/84 (13.4%). The five most frequently experienced symptoms in PWS patients were fever (56.1%); headache (45.1%); cold (42.7%); cough (31.7%) and body aches (21.95%). PWS patients who had COVID-19 infection had significantly lower mean oxygen saturation (SpO2) measured by pulse oximetry (post 94.8% vs. pre 95.7%, p = 0.001), lower detected lowermost SpO2 (post 86.2 vs. pre 87.3%, p = 0.003), and higher occurrence of hypopnoea (post 13.9 vs. pre 10.7, p = 0.001). Time in optimal SpO2 (95-100%) decreased significantly (post 54.3% vs. pre 73.8%, p = 0.001), whereas an increase was observed in time in suboptimal SpO2 (90-95%) (post 45.5% vs. 25.8%, p = 0.001) and in time in poor SpO2 (< 90%) (post 0.7% vs. pre 0.2%, p = 0.030). Body-Mass-Index (BMI)-SDS for PWS showed no differences between the groups at any time. BMI-SDS-differences showed no influence on differences in SpO2 evaluations. In the genetic subgroup with deletion there was a statistically significant effect on an increased number of OSA (p = 0.027). The genetic subgroup with uniparental disomy (UPD) was associated with a reduced risk of higher HF (p = 0.035) and less hypopnea (p = 0.011).
PWS patients predominantly experienced only mild to medium symptoms during COVID-19 infection without necessity of hospitalisation. However, on average three months after infection, differences in PSG evaluations were still apparent, manifesting in lower SpO2 and more frequent hypopnea. A long-lasting impairment of the pulmonary system due to the COVID-19 infection might be responsible.
评估2019冠状病毒病（COVID-19）对普拉德-威利综合征（PWS）患者多导睡眠图评估的影响。
对92例PWS患者（平均年龄9.1岁，范围3.1 - 22岁）连续两次夜间多导睡眠图（PSG）进行回顾性队列研究。92名参与者中有57名（35名女性）在两次连续检查之间感染了COVID-19。35名患者（21名女性）未感染（对照组）。基因分布如下：13/57（22.8%）缺失，19/57（33.3%）单亲二体，2/57（3.5%）印记缺陷，3/57（5.3%）非缺失，20/57（35.1%）通过分析15q11 - 13染色体的甲基化模式确诊。COVID-19感染与COVID-19后评估之间的平均时间间隔为96.2天。
COVID-19感染过程无症状8/82（9.8%），轻度63/82（76.8%），中度11/84（13.4%）。PWS患者最常出现的五种症状是发热（56.1%）；头痛（45.1%）；感冒（42.7%）；咳嗽（31.7%）和身体疼痛（21.95%）。感染COVID-19的PWS患者经脉搏血氧饱和度测定的平均血氧饱和度（SpO2）显著降低（感染后94.8% vs. 感染前95.7%，p = 0.001），检测到的最低SpO2更低（感染后86.2 vs. 感染前87.3%，p = 0.003），且呼吸浅慢的发生率更高（感染后13.9 vs. 感染前10.7，p = 0.001）。最佳SpO2（95 - 100%）时间显著减少（感染后54.3% vs. 感染前73.8%，p = 0.001），而次佳SpO2（90 - 95%）时间增加（感染后45.5% vs. 25.8%，p = 0.001），低氧SpO2（<90%）时间增加（感染后0.7% vs. 感染前0.2%，p = 0.030）。PWS的身体质量指数（BMI）- SDS在各时间点组间无差异。BMI - SDS差异对SpO2评估差异无影响。在缺失的基因亚组中，阻塞性睡眠呼吸暂停（OSA）数量增加有统计学显著影响（p = 0.027）。单亲二体（UPD）基因亚组与较高心力衰竭（HF）风险降低（p = 0.035）和呼吸浅慢减少（p = 0.011）相关。
PWS患者在COVID-19感染期间主要仅经历轻度至中度症状，无需住院。然而，感染后平均三个月，PSG评估差异仍很明显，表现为SpO2降低和呼吸浅慢更频繁。COVID-19感染导致的肺部系统长期损害可能是原因。
