This study examined the health-related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1). Thirty-two (17 pediatric, 15 young adult) patients with GD1 and one parent completed age-appropriate assessments of HRQoL, emotional, and behavioral health. The HRQoL of children with GD1 was compared with a healthy sample and to children diagnosed with Fabry disease (FD; another lysosomal storage disease), while young adults were compared to a healthy sample and to patients with self-reported chronic illnesses. Children with GD1 reported significantly lower HRQoL across all domains relative to healthy counterparts yet comparable HRQoL compared to children with FD. Young adults reported mildly lower physical functioning than healthy peers, but no differences in HRQoL relative to the chronic illness sample. Parent-reported symptom severity was associated with poorer HRQOL in children but not young adults. Few group differences in psychological functioning were observed, except young children showed more school problems than the normative average and there was a trend toward internalizing symptoms. Overall, results consistently identified younger patients with GD1 as more affected than older patients in HRQoL and psychological domains. Implementation of psychosocial interventions may be particularly beneficial during early childhood.

中文翻译：

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小儿和年轻成人Gaucher病1型的生活质量和心理功能

这项研究检查了与健康有关的生活质量（HRQoL）和1型高雪氏病（GD1）儿童和青少年的心理功能。GD1的三十二名（17名儿科，15名年轻成人）患者和一名父母完成了与年龄相关的HRQoL，情绪和行为健康评估。将GD1儿童的HRQoL与健康样本以及诊断为Fabry疾病（FD；另一种溶酶体贮积病）的儿童进行了比较，而将年轻人与健康样本以及具有自我报告的慢性疾病的患者进行了比较。与FD儿童相比，GD1儿童在所有领域的HRQoL均显着低于健康人，但HRQoL却相当。年轻人报告说其身体机能比健康同龄人略低，但相对于慢性病样本，HRQoL没有差异。父母报告的症状严重程度与儿童而非年轻人的HRQOL差有关。几乎没有人观察到心理功能上的群体差异，除了幼儿表现出的学习问题多于正常平均水平，而且有内化症状的趋势。总体而言，结果一致地确定，在HRQoL和心理领域，年轻的GD1患者比年长的患者受影响更大。在儿童早期，实施社会心理干预可能特别有益。除了幼儿显示出的上学问题多于正常平均水平外，而且存在一种将症状内化的趋势。总体而言，结果一致地确定，在HRQoL和心理领域，年轻的GD1患者比年长的患者受影响更大。在儿童早期，实施社会心理干预可能特别有益。除了幼儿显示出的上学问题多于正常平均水平外，而且存在一种将症状内化的趋势。总体而言，结果一致地确定，在HRQoL和心理领域，年轻的GD1患者比年长的患者受影响更大。在儿童早期，实施社会心理干预可能特别有益。