Delaney Kathleen A, Rudser Kyle R, Yund Brianna D, Whitley Chester B, Haslett Patrick A J, Shapiro Elsa G
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA,
JIMD Rep. 2014;13:129-37. doi: 10.1007/8904_2013_269. Epub 2013 Nov 5.
(1) Develop a methodology for obtaining reliable cognitive and developmental data in children with neurodegenerative disease and cognitive impairment and in turn monitor disease state and treatment outcomes. (2) Demonstrate validity of age-equivalent scores.
We present guidelines for obtaining accurate test scores in low-functioning and behaviorally disruptive pediatric patients, followed by a method validation study: (1) using disease-specific protocols to assess salient aspects of the known phenotype, (2) selecting appropriate tests, (3) managing behavior, and (4) using age-equivalent scores on standardized tools. We used the Bayley Scales of Infant Development-III or Kaufman Assessment Battery for Children-II with a group of 25 children with mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) with dementia. To demonstrate concurrent validity, we used the Vineland Adaptive Behavior Scales-II, comparing parent-reported age-equivalent scores (AEs) with those of the cognitive measures.
We were successful in obtaining cognitive age-equivalents for 25 patients with MPS IIIA including those with severe behavioral disruption and a correlation of 0.95 was obtained comparing scores on the parent measure with cognitive age-equivalents validating the age-equivalent approach.
An approach to the assessment of severely impaired children including those with behavioral disruption was implemented and is applicable to children with other severe neurological diseases. This approach will enhance the assessment of disease progression and monitoring of treatment outcome in clinical trials.
（1）开发一种方法，用于获取患有神经退行性疾病和认知障碍儿童的可靠认知和发育数据，进而监测疾病状态和治疗结果。（2）证明年龄等效分数的有效性。
我们提出了在功能低下和行为有干扰性的儿科患者中获得准确测试分数的指南，随后进行了方法验证研究：（1）使用疾病特异性方案评估已知表型的显著方面，（2）选择合适的测试，（3）管理行为，以及（4）在标准化工具上使用年龄等效分数。我们对一组25名患有ⅢA型粘多糖贮积症（MPS IIIA或A型桑菲利波综合征）并伴有痴呆的儿童使用了贝利婴儿发展量表第三版或考夫曼儿童评估量表第二版。为了证明同时效度，我们使用了文兰适应行为量表第二版，将家长报告的年龄等效分数（AEs）与认知测量分数进行比较。
我们成功地为25名MPS IIIA患者获得了认知年龄等效值，包括那些行为严重干扰的患者，将家长测量的分数与认知年龄等效值进行比较，得到的相关性为0.95，验证了年龄等效方法。
实施了一种评估严重受损儿童（包括行为有干扰的儿童）的方法，该方法适用于患有其他严重神经疾病的儿童。这种方法将加强临床试验中疾病进展的评估和治疗结果的监测。
