Law W Y, Bradley D M, Lazarus J H, John R, Gregory J W
Department of Child Health, University of Wales, College of Medicine, Cardiff, UK.
Clin Endocrinol (Oxf). 1998 Feb;48(2):201-7. doi: 10.1046/j.1365-2265.1998.3791206.x.
Neonatal screening for congenital hypothyroidism (CH) was introduced in Wales in 1982. The aim of the study was to evaluate the demographic features and characteristics of infants identified during the first 12 years of screening and their neurodevelopmental progress in the first 2 years of life.
Prospective collection of biochemical and clinical data (including results of Griffiths Mental Development Scales) obtained from questionnaires sent to paediatricians responsible for the ongoing clinical care of children with CH.
In Wales, between 1982 and 1993, 136 infants with primary congenital hypothyroidism (CH) were identified by the neonatal screening programme.
Of all new-borns, 99.8% were screened and the prevalence of CH was 1 in 3279 (1 in 2473 girls and 1 in 4770 boys). The prevalence of CH was increased in North Wales. CH was associated with increased birth weight (48.5% of infants weighed greater than 3.5 kg) and an increased prevalence of non-thyroidal congenital abnormalities (8%) and congenital heart disease (3%). Isotope scanning demonstrated an increased prevalence of normal or enlarged thyroid glands and fewer ectopic glands compared to those reported in other studies. The mean developmental quotients (DQs) for individual subsets of intellectual and behavioural functioning in children with CH aged 1 and 2 years were all above 100 (range: 103.5-111.9). In subjects with absent thyroids, these DQs were correlated with the serum concentrations of free thyroxine before treatment.
The demographic features of infants with congenital hypothyroidism born in Wales are similar to those reported from other European studies although there are marked regional variations in prevalence within Wales for which there is no apparent explanation. The median age of starting therapy was 17 days and compares favourably with other screening programmes. The overall mental development of Welsh children aged 1 and 2 years with congenital hypothyroidism identified by neonatal screening is satisfactory.
1982年威尔士开始进行先天性甲状腺功能减退症（CH）的新生儿筛查。本研究旨在评估筛查开始后的头12年中确诊婴儿的人口统计学特征和特点，以及他们在出生后头2年的神经发育进程。
通过向负责CH患儿持续临床护理的儿科医生发送问卷，前瞻性收集生化和临床数据（包括格里菲斯心理发展量表的结果）。
在威尔士，1982年至1993年间，新生儿筛查项目共确诊136例原发性先天性甲状腺功能减退症（CH）患儿。
所有新生儿中，99.8%接受了筛查，CH的患病率为1/3279（女孩为1/2473，男孩为1/4770）。北威尔士CH的患病率有所上升。CH与出生体重增加（48.5%的婴儿体重超过3.5kg）、非甲状腺先天性异常（8%）和先天性心脏病（3%）的患病率增加有关。同位素扫描显示，与其他研究报告相比，甲状腺正常或肿大的患病率增加，异位甲状腺较少。1岁和2岁CH患儿智力和行为功能各个亚组的平均发育商（DQ）均高于100（范围：103.5 - 111.9）。在甲状腺缺如的患儿中，这些DQ与治疗前的血清游离甲状腺素浓度相关。
威尔士出生的先天性甲状腺功能减退症患儿的人口统计学特征与其他欧洲研究报告的相似，尽管威尔士境内患病率存在明显的地区差异，且尚无明显解释。开始治疗的中位年龄为17天，与其他筛查项目相比具有优势。通过新生儿筛查确诊的1岁和2岁威尔士先天性甲状腺功能减退症患儿的总体智力发育情况令人满意。
