PDF(Sci-hub)
Abstract：
Holt-Oram syndrome (HOS) is a rare, genetic condition characterized by the combination of congenital heart defect and hypoplasia in one or both upper extremities. Children with HOS commonly present with varied joint and limb involvement including radial longitudinal deficiency impacting hand function. Evidence-based guidelines regarding orthotic wear and therapeutic techniques are lacking.
The aim of this case report was to present the results of a long-term occupational therapy program for a patient with HOS pre and postpollicization.
Case report.
A 4-month-old patient with bilateral radial longitudinal deficiencies began outpatient occupational therapy for custom orthosis fabrication and treatment which included long term clinic and home-based intervention. Techniques included passive range of motion, orthosis wear, therapeutic taping, and modified constraint induced movement therapy. Longitudinal assessment of musculoskeletal alignment and functional hand use was performed using goniometry for passive and active range of motion, the Assisting Hand Assessment (AHA), and The Thumb Grasp and Pinch Assessment (T-GAP).
Improvement in passive and active range of motion was achieved as well as improved activity level function as measured by the AHA and T-GAP postpollicization and intervention.
A combined clinic and home-based therapeutic approach can be effective for children with HOS to improve alignment and function pre and postpollicization to further enhance hand function. Comprehensive, long-term assessment is necessary to fully evaluate and communicate improvement.
The aim of this case report was to present the results of a long-term occupational therapy program for a patient with HOS pre and postpollicization.
Case report.
A 4-month-old patient with bilateral radial longitudinal deficiencies began outpatient occupational therapy for custom orthosis fabrication and treatment which included long term clinic and home-based intervention. Techniques included passive range of motion, orthosis wear, therapeutic taping, and modified constraint induced movement therapy. Longitudinal assessment of musculoskeletal alignment and functional hand use was performed using goniometry for passive and active range of motion, the Assisting Hand Assessment (AHA), and The Thumb Grasp and Pinch Assessment (T-GAP).
Improvement in passive and active range of motion was achieved as well as improved activity level function as measured by the AHA and T-GAP postpollicization and intervention.
A combined clinic and home-based therapeutic approach can be effective for children with HOS to improve alignment and function pre and postpollicization to further enhance hand function. Comprehensive, long-term assessment is necessary to fully evaluate and communicate improvement.
摘要：
背景：Holt-Oram综合征（HOS）是一种罕见的，以先天性心脏缺陷和一个或两个上肢发育不全为特征的遗传性疾病。患有HOS的儿童通常表现为不同的关节和肢体受累，包括影响手功能的radial纵向缺陷。缺乏有关矫形磨损和治疗技术的循证指南。
目的：本病例报告的目的是介绍一名在生育前和生育后患有HOS的患者的长期职业治疗计划的结果。
方法：病例报告。
方法：一名4个月大的双侧桡骨纵向缺陷患者开始门诊职业治疗，用于定制矫形器的制造和治疗，包括长期临床和家庭干预。技术包括被动运动范围，矫形器磨损，治疗性录音，和改良的约束诱导运动疗法。使用测角法对被动和主动运动范围进行肌肉骨骼对齐和功能性手使用的纵向评估，辅助手评估（AHA），和拇指抓握和捏评估（T-GAP）。
结果：通过AHA和T-GAP产后干预和干预措施，实现了被动和主动运动范围的改善以及活动水平功能的改善。
结论：临床和家庭相结合的治疗方法可以有效地改善HOS患儿在生育前后的对准和功能，从而进一步增强手功能。全面,长期评估对于全面评估和沟通改进是必要的。
目的：本病例报告的目的是介绍一名在生育前和生育后患有HOS的患者的长期职业治疗计划的结果。
方法：病例报告。
方法：一名4个月大的双侧桡骨纵向缺陷患者开始门诊职业治疗，用于定制矫形器的制造和治疗，包括长期临床和家庭干预。技术包括被动运动范围，矫形器磨损，治疗性录音，和改良的约束诱导运动疗法。使用测角法对被动和主动运动范围进行肌肉骨骼对齐和功能性手使用的纵向评估，辅助手评估（AHA），和拇指抓握和捏评估（T-GAP）。
结果：通过AHA和T-GAP产后干预和干预措施，实现了被动和主动运动范围的改善以及活动水平功能的改善。
结论：临床和家庭相结合的治疗方法可以有效地改善HOS患儿在生育前后的对准和功能，从而进一步增强手功能。全面,长期评估对于全面评估和沟通改进是必要的。
