Luccarelli J, Strong T V, McCoy T H
Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
Department of Psychiatry, Harvard Medical School, Boston, MA, USA.
J Intellect Disabil Res. 2025 Jan;69(1):79-89. doi: 10.1111/jir.13194. Epub 2024 Oct 22.
Prader-Willi syndrome (PWS) is a genetic disorder characterised by hyperphagia, intellectual disability and increased propensity to a range of medical disorders. To better characterise the clinical presentation of PWS across the lifespan, this study reports on the demographics and clinical diagnosis of individuals with PWS hospitalised in the United States.
The National Inpatient Sample, an all-payor administrative claims database of hospitalisations in the United States, was queried for patients with a coded diagnosis of PWS from October 2019 through December 2021. Hospitalisations for patients with PWS were matched to five non-PWS hospitalisations based on age, sex, year and hospital characteristics.
There were 4400 (95% CI: 3,885 to 4,915) PWS hospitalisations, with a median age of 24. Compared to controls, PWS hospitalisations had longer hospital stays (median 5 vs. 3 days) and higher in-hospital mortality (2.2% vs. 1.3%). Infectious (19.0%) and respiratory (16.2%) diagnoses were most common for PWS patients. Codes for overweight or obesity were present in 38.1% of PWS hospitalisations, with Hispanic ethnicity was associated with a higher odds of overweight/obesity in PWS patients (aOR 1.73; 95% CI: 1.11-2.71).
PWS hospitalisations are characterised by higher healthcare utilisation and complexity compared to matched controls. The high prevalence of obesity and significant rates of infectious and respiratory conditions highlight specific health challenges for PWS patients. Validation of the Q87.11 administrative claims code is an essential step for ongoing health services research in this condition.
普拉德-威利综合征（PWS）是一种遗传性疾病，其特征为食欲亢进、智力残疾以及患一系列医学疾病的倾向增加。为了更好地描述PWS在整个生命周期中的临床表现，本研究报告了在美国住院的PWS患者的人口统计学特征和临床诊断情况。
查询美国国家住院患者样本，这是一个涵盖所有支付方的住院管理索赔数据库，以获取2019年10月至2021年12月期间诊断编码为PWS的患者。根据年龄、性别、年份和医院特征，将PWS患者住院病例与五例非PWS住院病例进行匹配。
共有4400例（95%置信区间：3885至4915）PWS住院病例，中位年龄为24岁。与对照组相比，PWS住院患者的住院时间更长（中位5天对3天），院内死亡率更高（2.2%对1.3%）。感染性（19.0%）和呼吸道（16.2%）诊断是PWS患者最常见的诊断。38.1%的PWS住院病例存在超重或肥胖编码，西班牙裔种族与PWS患者超重/肥胖的较高几率相关（调整后比值比1.73；95%置信区间：1.11 - 2.71）。
与匹配的对照组相比，PWS住院病例的特点是医疗利用率更高且病情更复杂。肥胖的高患病率以及感染性和呼吸道疾病的高发生率凸显了PWS患者面临的特定健康挑战。对Q87.11管理索赔代码的验证是针对这种情况进行持续卫生服务研究的关键一步。
