Weber G, Siragusa V, Rondanini G F, Prina Cerai L M, Mora S, Colombini J, Medaglini S, Lia C, Locatelli T, Comi G
Department of Pediatrics, Scientific Institute, H San Raffaele, University of Milan, Italy.
Pediatr Res. 1995 Jun;37(6):736-40. doi: 10.1203/00006450-199506000-00011.
Minor neurologic and intellectual impairments have been described in some congenital hypothyroid (CH) children in spite of early detection by neonatal screening. The aim of our study was to assess cognitive functions as well as neurophysiologic parameters in hypothyroid children and to compare children detected by neonatal screening (group A) versus hypothyroid patients clinically diagnosed before the beginning of the screening program (group B). Group A consisted of 15 children (13 girls, mean age at the beginning of treatment 33 d). Group B consisted of 11 patients (7 girls, mean age at the start of treatment 10.1 mo). Twenty age-matched healthy children were studied as a control group for neurophysiologic tests. Neurophysiologic tests (Auditory P 300, long latency somatosensory evoked potentials (LL-SEP) were performed along with IQ evaluation. Abnormalities of neurophysiologic tests were detected in 82% of clinically diagnosed hypothyroid children. Surprisingly, 47% of the children detected by neonatal screening, having normal mental development index, showed at least one abnormal neurophysiologic test. LL-SEP latencies were found significantly increased in both groups of CH patients compared with controls. Our data are suggestive for a prenatal or perinatal CNS damage in some children with congenital hypothyroidism, despite early treatment.
尽管通过新生儿筛查能够早期发现,但一些先天性甲状腺功能减退症(CH)患儿仍存在轻微的神经和智力损伤。我们研究的目的是评估甲状腺功能减退症患儿的认知功能以及神经生理参数,并比较通过新生儿筛查发现的患儿(A组)与在筛查项目开始前临床诊断的甲状腺功能减退症患者(B组)。A组由15名儿童组成(13名女孩,治疗开始时的平均年龄为33天)。B组由11名患者组成(7名女孩,治疗开始时的平均年龄为10.1个月)。选取20名年龄匹配的健康儿童作为神经生理测试的对照组。进行神经生理测试(听觉P300、长潜伏期体感诱发电位(LL-SEP))以及智商评估。在临床诊断的甲状腺功能减退症患儿中,82%检测出神经生理测试异常。令人惊讶的是,在通过新生儿筛查发现的、智力发育指数正常的患儿中,47%至少有一项神经生理测试异常。与对照组相比,两组CH患者的LL-SEP潜伏期均显著延长。我们的数据表明,一些先天性甲状腺功能减退症患儿尽管接受了早期治疗,但仍存在产前或围产期中枢神经系统损伤。