患者报告的贝克威思-维德曼综合征患者的心理社会结果
Allison C Hu1, Andrew M George2, Abigail Casalnova2
1Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Pennsylvania, PA.
Plastic and reconstructive surgery
|December 15, 2025
概括
贝克维特-维德曼综合征 (BWS) 患者报告生活质量 (QoL) 好. 在BWS中治疗严重巨的外科手术可以改善QOL结果,与较轻症患者相比.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 是一个遗传学.
- 生活质量研究 研究 生命质量研究
背景情况:
- 贝克威思-维德曼综合征 (BWS) 是一种具有显著的表型变异性的先天性过度生长障碍.
- 这种变化会影响患者的体验和生活质量 (QoL).
- 患者报告的结果 (PROs) 对于了解BWS患者的旅程至关重要.
研究的目的:
- 调查患有贝克威思-维德曼综合征的儿童和青少年患者报告的结果.
- 评估光症严重程度和手术干预对 QoL 的影响.
主要方法:
- 对36名BWS患者 (年龄在4-18岁) 进行FACE-Q面测量的前性管理.
- 调查评估了外表痛苦,心理社会,学校和社会功能,转换为拉什分数 (0-100).
- 审查了临床数据,包括BWS巨症指数 (BIG) 评分和舌头缩小手术史.
主要成果:
- 在所有领域报告了整体高的QOL分数:外表困扰 (91.9),心理 (86.3),学校 (80.7) 和社会 (82.9).
- 根据舌头缩小手术,BIG得分或血液马赛克主义,没有发现QOL的显著差异.
- 几乎一半的患者 (44.4%) 接受了舌头缩小手术,平均年龄为2.3岁.
结论:
- 患有BWS的患者通常报告生活质量令人鼓舞.
- 在BWS中,手术纠正严重的巨会导致QoL的显著改善.
- 经过手术治疗的严重巨病例的QoL结局与不需要手术的较温和表型患者相似.
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