Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.

IF 1.2 4区医学 Q3 FAMILY STUDIES

Families Systems & Health Pub Date : 2025-07-10 DOI:10.1037/fsh0001004

Gianna M Colombo, Andrew D Wiese, Amelia E Mercado, Whitney S Shepherd, Michelle Fynan, Kara Ayers, W Conor Rork, Kristin M Kostick-Quenet, Dianne Nguyen, Sophie C Schneider, Julia M Morales, Saniah I Kazimi, Hannah E Cho, Members Of The Bbdc, Chaya N Murali, Marie-Eve Robinson, Brendan Lee, V Reid Sutton, Eric A Storch

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引用次数: 0

Abstract

Introduction: Osteogenesis imperfecta (OI) describes a group of rare, heritable bone disorders causing bone fragility, tendency to fracture with minimal trauma, and chronic pain due to abnormal collagen synthesis. Limited research exists on the psychosocial impact of OI during childhood on caregivers and families.

Purpose: This study aimed to understand caregiver experiences, existing social support provided for families affected by OI, and the impact of OI on family life.

Method: Thirteen caregivers of individuals with OI participated in semistructured interviews. Researchers coded, abstracted, and analyzed qualitative data to develop themes on the psychosocial impact of OI on the family unit.

Results: Analysis yielded four themes: (a) encountering difficult experiences during diagnosis of OI, (b) caregiver well-being and coping, (c) broad family impact, and (d) the existence and further need for social support.

Discussion: Findings have implications for child and caregiver well-being and health care professionals during diagnosis and emphasize the need for social support for families affected by OI. Future research should engage a more diverse (in terms of ethnoracial demographics and family structures) sample and utilize quantitative analyses to complement the present understanding of the relationship between OI and family well-being. (PsycInfo Database Record (c) 2025 APA, all rights reserved).

查看原文本刊更多论文

成骨不全症与家庭：家庭与照护者经验之定性分析。

成骨不全症（Osteogenesis imperfecta， OI）描述了一组罕见的、可遗传的骨骼疾病，这些疾病导致骨骼脆弱，有轻微创伤的骨折倾向，以及由于胶原合成异常而引起的慢性疼痛。关于儿童时期成骨不全对照顾者和家庭的心理社会影响的研究有限。目的：本研究旨在了解护理者的经验，为成骨不全症家庭提供的现有社会支持，以及成骨不全症对家庭生活的影响。方法：13名成骨不全患者的护理人员参加了半结构化访谈。研究人员对定性数据进行编码、抽象和分析，以形成成骨不全对家庭单位的心理社会影响的主题。结果：分析产生了四个主题：(a)在成骨不全症诊断期间遇到的困难经历，(b)照顾者的福祉和应对，(c)广泛的家庭影响，以及(d)社会支持的存在和进一步需求。讨论：研究结果对诊断期间的儿童和护理人员以及卫生保健专业人员的健康有影响，并强调了对成骨不全患者家庭提供社会支持的必要性。未来的研究应该采用更多样化的样本（在种族人口统计和家庭结构方面），并利用定量分析来补充目前对成骨不全和家庭幸福之间关系的理解。（PsycInfo Database Record (c) 2025 APA，版权所有）。

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

Families Systems & Health HEALTH CARE SCIENCES & SERVICES-PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

CiteScore

1.50

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Families, Systems, & Health publishes clinical research, training, and theoretical contributions in the areas of families and health, with particular focus on collaborative family healthcare.