Bjoraker Kendra J, Delaney Kathleen, Peters Charles, Krivit William, Shapiro Elsa G
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
J Dev Behav Pediatr. 2006 Aug;27(4):290-6. doi: 10.1097/00004703-200608000-00002.
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.
医学治疗的进步延长了患有黏多糖贮积症 I 型（Hurler 综合征）儿童的寿命，这就需要更加关注对他们长期预后和功能能力的评估。适应性功能对于理解治疗后的功能预后以及制定有针对性的干预措施至关重要。我们调查了接受造血干细胞移植（HSCT）治疗 Hurler 综合征儿童的各种适应性功能的发展情况以及与这些功能发展相关的风险因素。我们检查了 41 名儿童的适应性功能发展情况，这些儿童在移植前后有 3 次或更多次 Vineland 适应性行为量表记录。对沟通、日常生活技能、社交能力和运动功能进行了测量。虽然标准分数随时间下降，但与同龄人相比，技能发展仍以低于平均水平的速度继续。一个未接受移植的横断面比较组在 2 岁后显示出比移植组更多的缺陷。与认知能力不同，移植时的年龄与最终的适应水平没有显著相关性。HSCT 前的基线认知水平和 HSCT 后的认知增长与适应性功能相关，尤其是在沟通和日常生活技能方面。社交能力由累积的医疗风险因素预测，这可能是由于移植过程复杂的儿童社交接触受限所致。总体而言，适应性行为的测量表明，HSCT 可使 Hurler 综合征儿童的功能预后得到长期缓慢改善。HSCT 前认知水平良好且 HSCT 后认知持续增长的 Hurler 综合征儿童表现出良好的适应性功能。尽管认知和骨科问题以及医疗并发症会限制适应能力，但早期识别这些问题有助于进行有益的针对性干预。
