黏多糖贮积症 III 型（Sanfilippo 综合征）患者的认知发展。
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome).
机构信息
Department of Pediatrics and Amsterdam Lysosome Center Sphinx, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
出版信息
Orphanet J Rare Dis. 2011 Jun 20;6:43. doi: 10.1186/1750-1172-6-43.
BACKGROUND
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder caused by a deficiency of one of the enzymes involved in the degradation of heparan sulfate. MPS III is characterized by progressive mental deterioration resulting in severe dementia. A number of potentially disease-modifying therapies are studied. As preservation of cognitive function is the ultimate goal of treatment, assessment of cognitive development will be essential in order to evaluate treatment efficacy. However, no large scale studies on cognitive levels in MPS III patients, using formal psychometric tests, have been reported.
METHODS
We aimed to assess cognitive development in all 73 living patients with MPS III in the Netherlands.
RESULTS
Cognitive development could be assessed in 69 patients. In 39 of them developmental level was estimated > 3 months and formal psychometric testing was attempted. A remarkable variation in the intellectual disability was detected.
CONCLUSIONS
Despite special challenges encountered, testing failed in only three patients. The observed broad variation in intellectual disability, should be taken into account when designing therapeutic trials.
背景
黏多糖贮积症 III 型（MPS III，Sanfilippo 综合征）是一种溶酶体贮积症，由参与硫酸乙酰肝素降解的酶之一缺乏引起。MPS III 的特征是进行性精神恶化导致严重痴呆。许多潜在的疾病修饰疗法正在研究中。由于保持认知功能是治疗的最终目标，因此评估认知发育对于评估治疗效果至关重要。然而，使用正规心理测试评估 MPS III 患者认知水平的大型研究尚未报道。
方法
我们旨在评估荷兰所有 73 名存活的 MPS III 患者的认知发育情况。
结果
可以评估 69 名患者的认知发育情况。其中 39 名患者的发育水平 > 3 个月，并尝试进行了正规心理测试。检测到显著的智力障碍变异。
结论
尽管遇到了特殊挑战，但只有三名患者的测试失败。在设计治疗试验时，应考虑到观察到的智力障碍的广泛变异性。
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