与患有枫糖尿症（MSUD）的孩子一起生活：菲律宾父母与患有枫糖尿症孩子的心理社会问题。
Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease.
作者信息
Tumulak Ma-Am Joy R, Padilla Carmencita D, Ongchangco Jose Carlo E, Laurino Mercy Y, Lagarde John Benedict B, Regalado Ellen S, Legaspi Augusto V, Ventura Elizabeth R
机构信息
Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
College of Medicine, University of the Philippines Manila, Manila, Philippines.
出版信息
Genet Med Open. 2024 Apr 16;2:101847. doi: 10.1016/j.gimo.2024.101847. eCollection 2024.
PURPOSE
Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have a genetic disorder, which can lead to chronic care and disability. This study aims to explore the psychosocial issues experienced by Filipino parents with children having MSUD.
METHODS
This is a descriptive and qualitative study. One-to-one interviews using a semi-structured set of questions were done between the months of November 2015 to March 2016. A total of 12 parents were interviewed. Thematic analysis was used.
RESULTS
The diagnosis of MSUD in a child is, indeed, a stressful event for the family. Parents experienced fear, confusion, and hurt, among other emotions. Having a child with MSUD had a negative impact on their families, especially in terms of financial burden, dietary restriction, and marital conflicts leading to separation. However, some parents reported positive effects, such as increased confidence in one's abilities to care for the affected child and closer relationships among family members.
CONCLUSION
A diagnosis of MSUD on the child places considerable caregiver burden on the parents. Findings have important implications for genetic counselors.
目的
枫糖尿症（MSUD）是菲律宾常见的一种先天性代谢缺陷病。当孩子被诊断患有遗传疾病时，一个家庭可能会经历压力、焦虑、悲伤或无助感，这可能导致长期护理和残疾。本研究旨在探讨菲律宾有患MSUD孩子的父母所经历的心理社会问题。
方法
这是一项描述性定性研究。在2015年11月至2016年3月期间，采用一组半结构化问题进行一对一访谈。共采访了12位家长。采用主题分析法。
结果
孩子被诊断患有MSUD确实是家庭的一个压力事件。父母经历了恐惧、困惑和伤害等情绪。有一个患MSUD的孩子对他们的家庭产生了负面影响，尤其是在经济负担、饮食限制以及导致分居的婚姻冲突方面。然而，一些家长报告了积极影响，比如照顾患病孩子的能力信心增强以及家庭成员关系更亲密。
结论
孩子被诊断患有MSUD给父母带来了相当大的照顾负担。研究结果对遗传咨询师具有重要意义。
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