Relationship between body mass index and nutritional status across genetic subtypes of Prader-Willi syndrome

IF 2.6 Q3 NUTRITION & DIETETICS

Clinical nutrition ESPEN Pub Date : 2025-08-05 DOI:10.1016/j.clnesp.2025.07.1132

Romina Ceccomancini , Delfina Mendiola , Letícia Nunes-Campos , Jorgelina Stegmann

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引用次数: 0

Abstract

Introduction

The relationship between Prader-Willi Syndrome (PWS) genetic subtypes and nutritional status is generally unknown. We aimed to evaluate the relationship between body mass index (BMI) and nutritional status across genetic subtypes of PWS.

Methods

This retrospective cross-sectional study included male and female individuals over 8 years old with a confirmed genetic diagnosis of PWS and subtype determination. This study was conducted at a health facility led by a non-governmental organization that provides regular outpatient transdisciplinary care for rare diseases. We excluded individuals with a history of growth hormone treatment and pharmacological treatments for nutritional purposes. Participants were grouped based on the presence or absence of a genetic deletion subtype. The BMI (kg/m²) was calculated upon admission. Nutritional assessment was conducted in accordance with World Health Organization standards.

Results

A total of 41 individuals with PWS were included, with a mean age of 19.4 ± 6.7 years and a mean BMI of 40.2 ± 12.7 kg/m². The most frequent genotype was deletion (n = 28, 68 %). Compared to non-deletion participants, the deletion group showed a significantly higher mean BMI (42.4 ± 14.2 kg/m² vs. 35.5 ± 7.2 kg/m², p = 0.045). The nutritional status of obesity was significantly more prevalent in individuals with the deletion subtype (93 %, 26/28) compared to those with a non-deletion subtype (62 %, 9/13; p = 0.006). However, when stratified by age groups, the association between deletion and nutritional status was observed only among adults, in whom deletion was linked to a higher prevalence of obesity (94 % vs. 50 %, p = 0.006) and a higher mean BMI (47.8 ± 14.9 kg/m² vs. 35.1 ± 8.6 kg/m², p = 0.04).

Conclusion

In this study involving individuals with PWS, adults with the genetic deletion subtype presented higher BMI and more severe obesity compared to patients with non-deletion genotypes.

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Prader-Willi综合征遗传亚型体重指数与营养状况的关系

普瑞德-威利综合征（PWS）遗传亚型与营养状况之间的关系通常是未知的。我们旨在评估PWS遗传亚型的体重指数（BMI）与营养状况之间的关系。方法：本回顾性横断面研究包括8岁以上经基因诊断为PWS并确定亚型的男性和女性个体。这项研究是在一个非政府组织领导的保健设施进行的，该机构为罕见疾病提供定期门诊跨学科护理。我们排除了有生长激素治疗史和营养药理治疗史的个体。参与者根据基因缺失亚型的存在与否进行分组。入院时计算BMI （kg/m2）。营养评估按照世界卫生组织的标准进行。结果：共纳入41例PWS患者，平均年龄19.4±6.7岁，平均BMI为40.2±12.7 kg/m2。最常见的基因型是缺失（n=28, 68%）。与未删除组相比，删除组的平均BMI明显更高（42.4±14.2 kg/m2 vs. 35.5±7.2 kg/m2, p = 0.045）。缺失亚型个体（93%,26/28）的肥胖营养状况显著高于非缺失亚型个体(62%,9/13；P = 0.006)。然而，当按年龄组分层时，仅在成年人中观察到缺失与营养状况之间的关联，其中缺失与较高的肥胖患病率（94%对50%，p = 0.006）和较高的平均BMI（47.8±14.9 kg/m2对35.1±8.6 kg/m2, p = 0.04）相关。结论：在这项涉及PWS个体的研究中，与非缺失基因型患者相比，基因缺失亚型的成人平均BMI更高，肥胖更严重。

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来源期刊

Clinical nutrition ESPEN NUTRITION & DIETETICS-

CiteScore

4.90

自引率

3.30%

发文量

512

期刊介绍： Clinical Nutrition ESPEN is an electronic-only journal and is an official publication of the European Society for Clinical Nutrition and Metabolism (ESPEN). Nutrition and nutritional care have gained wide clinical and scientific interest during the past decades. The increasing knowledge of metabolic disturbances and nutritional assessment in chronic and acute diseases has stimulated rapid advances in design, development and clinical application of nutritional support. The aims of ESPEN are to encourage the rapid diffusion of knowledge and its application in the field of clinical nutrition and metabolism. Published bimonthly, Clinical Nutrition ESPEN focuses on publishing articles on the relationship between nutrition and disease in the setting of basic science and clinical practice. Clinical Nutrition ESPEN is available to all members of ESPEN and to all subscribers of Clinical Nutrition.