Bugescu Nicolle, Alioto Andrea, Segal Summer, Cordova Matthew, Packman Wendy
Department of Psychology, Pacific Graduate School of Psychology, Palo Alto University, Palo Alto, California; Department of Psychiatry, University of California, San Francisco, California.
Am J Med Genet B Neuropsychiatr Genet. 2015 Apr;168B(3):204-10. doi: 10.1002/ajmg.b.32297. Epub 2015 Mar 4.
Fabry disease (FD) is an X-linked lysosomal storage disorder that results in progressive multisystemic organ complications. Several studies have examined neurocognitive impairments in adults; however, there is a paucity of research examining neurocognitive functioning in children with FD. This is the first exploratory study to examine the neurocognitive functioning of pediatric patients with FD and to evaluate the effects of enzyme replacement therapy (ERT) on neurocognitive functioning within this population. Families attending a national conference with at least one child with FD and one parent affected by FD comprised the sample (n = 48; 24 pediatric patients, 24 parents). Pediatric participants (10 males, 14 females) between the ages of 6 and 18 years and their parent(s) were involved in the study. Data from a demographic questionnaire and two neurocognitive self-report and parent-report measures were analyzed. Parent reports of neurocognitive functioning were also compared to a sample of children with and without head injury and to a sample of children who had undergone liver transplant (LT). Children with FD had poorer cognitive and executive functioning than healthy peers, and were comparable to children with head injury and LT. In addition, children using ERT had higher scores on measures of overall cognitive functioning, as well as fewer problems with attention/working memory and executive functioning. Results of this study suggest that children with FD may exhibit poorer cognitive and executive functioning relative to healthy peers. The use of ERT may mitigate the negative impact of FD on neurocognitive functioning in pediatric patients.
法布里病（FD）是一种X连锁溶酶体贮积症，可导致进行性多系统器官并发症。已有多项研究探讨了成人的神经认知障碍；然而，针对法布里病患儿神经认知功能的研究却很少。这是第一项探索性研究，旨在研究法布里病儿科患者的神经认知功能，并评估酶替代疗法（ERT）对该人群神经认知功能的影响。参加全国性会议的家庭构成了样本，其中至少有一名法布里病患儿和一名受法布里病影响的家长（n = 48；24名儿科患者，24名家长）。年龄在6至18岁之间的儿科参与者（10名男性，14名女性）及其家长参与了该研究。分析了来自人口统计学问卷以及两项神经认知自我报告和家长报告测量的数据。还将家长对神经认知功能的报告与有或无头部受伤儿童的样本以及接受肝移植（LT）儿童的样本进行了比较。法布里病患儿的认知和执行功能比健康同龄人差，与头部受伤儿童和接受肝移植儿童相当。此外，使用ERT的儿童在整体认知功能测量方面得分更高，在注意力/工作记忆和执行功能方面的问题也更少。这项研究的结果表明，法布里病患儿相对于健康同龄人可能表现出较差的认知和执行功能。使用ERT可能会减轻法布里病对儿科患者神经认知功能的负面影响。
