Identifying the unmet needs of patients with neurofibromatosis type 1 in Singapore.

IF 3.5 2区医学 Q2 GENETICS & HEREDITY

Journal of Medical Genetics Pub Date : 2025-06-04 DOI:10.1136/jmg-2025-110702

Agnes Lim, Zi Yang Chua, Celestine Loh, Priyadharshini D/O Suresh, Jeanette Yuen, Manasadevi Kartikeyan, Zhang Zewen, Jianbang Chiang, Mark Jean Aan Koh, Nikki Wen Yan Fong, Ee Shien Tan, Joanne Ngeow

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引用次数: 0

Abstract

Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with tumour predisposition, and patients often face neuropsychiatric and psychosocial challenges. This study aimed to identify unmet needs of NF1 patients in Singapore to enhance patient care and service delivery.

Methods: 20 patients who were clinically or genetically diagnosed with NF1 were recruited for in-depth interviews. Interviews were transcribed verbatim and analysed using thematic analysis.

Results: Five themes emerged from thematic analysis: (1) NF1 trajectory begins from childhood; (2) Coming to terms with body and self; (3) Perceived acceptance drives disclosure patterns; (4) Need for specialised NF1 care; (5) Building local awareness and connections. Six key unmet needs were identified, namely the need for: (1) Optimised multidisciplinary NF1 care; (2) Management of neurological symptoms; (3) Management of cutaneous lesions; (4) Financial coverage for NF1; (5) Early NF1 screening; (6) Local awareness and support groups.

Conclusion: Addressing these needs can lead to actionable steps for improving care and quality of life for NF1 patients in Singapore.

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确定新加坡1型神经纤维瘤病患者未满足的需求。

背景：1型神经纤维瘤病（NF1）是一种具有肿瘤易感性的神经皮肤疾病，患者经常面临神经精神和社会心理挑战。本研究旨在确定新加坡NF1患者未满足的需求，以加强患者护理和服务提供。方法：选取20例临床或基因诊断为NF1的患者进行深度访谈。访谈内容逐字记录，并采用专题分析进行分析。结果：从主题分析中得出五大主题：(1)NF1的发展轨迹始于童年；(2)与身体和自我妥协；(3)感知接受驱动信息披露模式；(4)需要专门的NF1护理；(5)建立当地意识和联系。确定了六个关键的未满足需求，即需要：(1)优化多学科NF1护理；(2)神经症状的处理；(3)皮肤病变的处理；(4) NF1的财务覆盖；(5)早期NF1筛查；(6)当地的意识和支持团体。结论：解决这些需求可以为改善新加坡NF1患者的护理和生活质量带来可操作的步骤。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Medical Genetics 医学-遗传学

CiteScore

7.60

自引率

2.50%

发文量

审稿时长

4-8 weeks

期刊介绍： Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.