与polr3相关的脑白质营养不良：父母与医疗保健系统经历的定性研究

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2025-02-27 DOI:10.1016/j.pediatrneurol.2025.02.011

Adam Le MSc , Kelly-Ann Thibault DEC , Pouneh Amir Yazdani MD , Enrico Bertini MD , Francesco Nicita MD, PhD , Daniela Pohl MD , Sunita Venkateswaran MD , Stephanie Keller MD , Deborah Renaud MD , Dolores Gonzales Moron MD, PhD , Marcelo Kauffman MD, MSc, PhD , Danilo De Assis Pereira MD , Adeline Vanderver MD , Maxime Morsa PhD , Geneviève Bernard MD, MSc

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引用次数: 0

摘要

背景：polr3相关的低髓鞘性脑白质营养不良（POLR3-HLD）是一种罕见的遗传性神经退行性疾病，影响中枢神经系统白质发育。这种疾病的特点是脱髓鞘减退、牙髓缺损和促性腺功能减退（4H白质营养不良）。POLR3-HLD患者需要复杂和专门的护理；然而，由于它的罕见和有限的认识，父母往往承担额外的角色，作为专家和倡导者的孩子（ren）。我们的目的是了解父母在医疗保健领域的经验，并确定潜在的改进目标。方法研究小组对POLR3-HLD患者家长进行半结构化访谈。访谈问题集中在诊断过程、护理的可得性和可及性以及护理的感知质量。访谈被记录、转录、编码，并使用反身性主题分析进行分析，围绕父母的医疗保健经历形成主题。结果于2023年3月至10月对24名国际家长进行了19次半结构化访谈。提出了四个主题：获得护理的现有障碍，诊断和护理方面的有限知识，父母作为专家和儿童护理的倡导者，以及被认为是白质营养不良专家的优质护理。许多家长表示感到孤独和不确定，几乎没有向他们提供指导。他们还发现了护理方面的差距和面临的挑战，但在专业诊所接受白质萎缩症专家的治疗时，他们感到安慰。结论本研究将有助于更好地为卫生保健提供者、管理人员和政策制定者提供信息，以扩大和改善POLR3-HLD患者及其家属获得优质护理的机会。这些结论也可推广到其他罕见病。

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POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences With the Health Care System

Background

POLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, inherited neurodegenerative disorder affecting white matter development of the central nervous system. This disorder is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism (4H leukodystrophy). Patients with POLR3-HLD require complex and specialized care; however, due to its rarity and limited awareness, parents often assume additional roles as experts and advocates for their child(ren). We aimed to understand parents’ experiences navigating the health care landscape and to identify potential targets for improvement.

Methods

Research team members conducted semi-structured interviews with parents of patients with POLR3-HLD. Interview questions focused on the diagnostic odyssey, availability and access to care, and the perceived quality of care. Interviews were recorded, transcribed, coded, and analyzed using reflexive thematic analysis, and themes surrounding parents’ health care experiences were developed.

Results

Nineteen semi-structured interviews were conducted with an international cohort of 24 parents between March and October 2023. Four themes were developed: existing barriers in accessing care, limited knowledge in diagnosis and care, parents as experts and advocates of their child(ren)'s care, and perceived superior care by leukodystrophy specialists. Many parents expressed feeling alone and uncertain, with little guidance provided to them. They also identified perceived gaps in care and challenges faced but found comfort when treated by leukodystrophy experts in specialty clinics.

Conclusions

This study will help better inform health care providers, administrators, and policymakers to expand and improve access to quality care for patients with POLR3-HLD and their families. These conclusions may also be generalizable to other rare diseases.

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.