Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation
Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation
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DOI：
10.1097/00004703-200608000-00002
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发表时间：
2006-08-01
影响因子：
2.4
通讯作者：
Shapiro, Elsa G.
中科院分区：
文献类型：
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作者：
Bjoraker, Kendra J.;Delaney, Kathleen;Shapiro, Elsa G.
医学治疗的进步延长了Hurler综合征或粘多糖样沉积症I型患儿的生命，需要更加关注其长期结局和功能能力的评估。适应功能对于理解治疗后的功能结果和制定有针对性的干预措施至关重要。我们研究了接受造血干细胞移植（HSCT）治疗Hurler综合征的儿童各种适应功能的发展以及与这些功能发展相关的风险因素。我们检查了41名在移植前后有3个或更多Vineland适应行为量表记录的儿童的发展。沟通，日常生活技能，社会化和运动功能进行了测量。虽然标准分数随着时间的推移而下降，但与同龄人相比，技能的发展速度仍然低于平均水平。一个横截面非移植对照组显示更多的缺陷后，2岁比移植组。与认知能力相反，移植时的年龄与最终适应水平没有显著相关。HSCT前的基线认知水平和HSCT后的认知增长与适应功能相关，尤其是沟通和日常生活技能。社会化是由累积的医疗风险因素预测的，这可能是由于复杂移植过程中儿童的社会暴露受到限制。总体而言，适应行为的测量表明，HSCT允许Hurler综合征儿童功能结局的长期缓慢改善。HSCT前认知水平良好且HSCT后认知持续增长的Hurler综合征患儿表现出良好的适应功能。虽然认知和矫形问题以及医疗并发症限制了适应能力，但早期识别这些问题可以进行有益的有针对性的干预。
Advances in medical treatment have prolonged the lives of children with Hurler syndrome or mucopolysaccharidosis I requiring increased attention to the assessment of their long-term outcomes and functional abilities. Adaptive functions are critical for understanding functional outcomes after treatment and developing focused interventions. We investigated the development of various adaptive functions in children who have had hematopoietic stem cell transplant (HSCT) for Hurler syndrome and risk factors that are associated with the development of these functions. We examined the development of 41 children who had 3 or more Vineland Adaptive Behavior Scales records assessed before and after transplant. Communication, daily living skills, socialization, and motor functions were measured. While standard scores decline over time, development of skills continue with a slower than average rate compared with peers. A cross-sectional nontransplanted comparison group showed more deficits after age 2 years than the transplanted group. In contrast to cognitive ability, age at transplant was not significantly associated with ultimate adaptive level. Baseline cognitive level before HSCT and growth of cognition after HSCT were associated with adaptive functions especially for communication and daily living skills. Socialization was predicted by cumulative medical risk factors, likely due to restricted social exposure in children with complicated transplant courses. Overall, measurement of adaptive behaviors demonstrated that HSCT allows long-term slow improvement of functional outcomes for children with Hurler syndrome. Children with Hurler syndrome with good cognitive levels before HSCT and continued growth of cognition after HSCT show good adaptive functions. Although cognitive and orthopedic problems as well as medical complications limit adaptive ability, identifying these problems early allow beneficial targeted interventions.