Clinical Nursing Management and Care Considerations in Prader-Willi Syndrome
Abstract
Background: Prader–Willi syndrome (PWS) is a rare genetic disorder caused by loss of expression of paternally inherited genes on chromosome 15q11.2–q13. It is characterized by multisystem involvement, including neurodevelopmental delay, endocrine dysfunction, hyperphagia, and severe obesity, leading to significant morbidity and mortality.
Aim: This article aims to review the clinical features, pathophysiology, evaluation, and comprehensive nursing management strategies for individuals with Prader–Willi syndrome, with emphasis on multidisciplinary care.
Methods: A narrative review of clinical, genetic, and nursing literature was conducted focusing on etiology, epidemiology, diagnosis, treatment, complications, and patient education related to PWS.
Results: PWS manifests with hypotonia and feeding difficulties in infancy, progressing to hyperphagia, obesity, endocrine abnormalities, behavioral challenges, and cognitive impairment. Accurate diagnosis relies on DNA methylation analysis, while management requires lifelong, coordinated interventions including growth hormone therapy, dietary control, behavioral support, and monitoring of obesity-related complications.
Conclusion: Early diagnosis and sustained multidisciplinary management are critical to improving functional outcomes, reducing complications, and enhancing quality of life in individuals with Prader–Willi syndrome. Nursing professionals play a vital role in education, monitoring, and care coordination.
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Authors
Copyright (c) 2025 Horyah Badi Duij Almutiry, Salha Shahi Mufdi Alanzi, Dalal Khudhayer Assri Alanazi, Nawal Saleh Dasan Alharbi, Dalal Lafi Almutrafi, Saad Abdullah Alwazrah, Amjad Saleh Alghamdi, Amani Ali Yahya Ghazwni, Ebtisam Ibrahim Ali, Reem Mohammad Kwes, Awd Maud Saad Reshd, Alaa Mohammed Almarwani
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