Lai Chih-Jou, Hsu Ting-Rong, Yang Chia-Feng, Chen Shyi-Jou, Chuang Ya-Chin, Niu Dau-Ming
Department of Physical Medicine and Rehabilitation, Taipei Veteran General Hospital, Taipei, Taiwan.
School of Medicine, National Yang-Ming University, Taipei, Taiwan.
J Child Neurol. 2016 Dec;31(14):1617-1621. doi: 10.1177/0883073816665549. Epub 2016 Sep 21.
Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age.
大多数婴儿型庞贝病患者在开始酶替代治疗之前就在婴儿早期死亡，这使得评估庞贝病对认知发育的影响变得困难。婴儿型庞贝病患者通过酶替代治疗可以存活，医生可以评估这些患者的认知发育情况。我们建立了一个具有快速临床诊断标准的有效新生儿筛查项目。在6个月、12个月和24个月龄时，使用贝利婴幼儿发育量表第三版评估认知和运动发育情况。极早期接受治疗的患者表现出正常的认知发育，在此期间认知无显著变化（P = 0.18 > 0.05）。认知发育与运动发育呈正相关（r = 0.533，P = 0.011）。结果表明，极早期酶替代治疗可保护婴儿型庞贝病患者至24个月龄时的认知发育。
