与脆性 X 综合征共同成长：青年患者及其父母的关注和护理需求。
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents.
机构信息
The Hartekamp Groupe, Care and Service Center for People with Intellectual Disabilities, Haarlem, The Netherlands.
ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Room SP-1536, Wytemaweg 80, 3015CN, Rotterdam, The Netherlands.
出版信息
J Autism Dev Disord. 2020 Jun;50(6):2174-2187. doi: 10.1007/s10803-019-03973-7.
Abstract
Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the International Classification of Functioning, Disability, and Health. Results indicated concerns on 14 domains for males, and 13 domains for females, including physical, psychological and socio-economical issues. In both groups parents reported high stress levels and a lack of knowledge of FXS in adult care providers. This study revealed concerns on various domains, requiring gender-specific, multidisciplinary transitional care and adult follow-up for patients with FXS.
摘要
脆性 X 综合征（FXS）青少年的护理需求鲜为人知。需要患者驱动的信息来提高对 FXS 青少年的理解和支持。对 5 名青少年患者（年龄 18-30 岁）和 33 名青少年家长进行了定性研究。使用国际功能、残疾和健康分类对关注点和护理需求进行了分类。结果表明，男性有 14 个领域的关注点，女性有 13 个领域的关注点，包括身体、心理和社会经济问题。在这两个群体中，家长都报告了高压力水平，并且成人护理提供者对 FXS 知之甚少。这项研究揭示了在不同领域的关注点，需要针对 FXS 患者进行性别特定的、多学科的过渡性护理和成人随访。
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