Ray M, Muir T M, Murray G D, Kennedy R, Girdwood R W, Donaldson M D
Department of Child Health, Royal Hospital for Sick Children, Glasgow.
Arch Dis Child. 1997 May;76(5):411-5. doi: 10.1136/adc.76.5.411.
To evaluate the efficiency of the screening programme for congenital hypothyroidism in Scotland and to determine the outcome in the cohort of children with positive testing for thyroid stimulating hormone (TSH).
Establishment of comprehensive database for all Scottish infants with high TSH, detected on Guthrie screening.
344 infants born between August 1979 and December 1993 with TSH greater than 40 mU/l on initial Guthrie, or 15-40 mU/l on repeat Guthrie.
Ages at time of: (a) Guthrie collection, (b) notification of positive result by laboratory, and (c) start of treatment; audit of late diagnosis/missed cases; categorisation of positive cases into definite and probable congenital hypothyroidism, transient TSH elevation, and uncertain status; educational status of children with definite and probable congenital hypothyroidism.
344 positive cases were categorised as having definite (224) and probable (11) congenital hypothyroidism, transient TSH elevation (88), and status uncertain (21). The overall incidence of definite/probable congenital hypothyroidism was 1 in 4400 live births. For the definite/probable groups median age of Guthrie collection was consistently between 6 and 7 days from 1983 onwards but for the whole cohort was later than 10 days in 10.5%. Median age of notification fell from 14 days in 1980 to 11 days in 1993. Median age of starting treatment ranged between 11 and 15 days from 1983 onwards. Treatment was delayed in four cases, three due to failed or late Guthrie card submission. Of 149 children with definite/ probable congenital hypothyroidism who were of school age, educational status was ascertained in 139 (93%). Only two children (1.4%) were attending special school, one of whom was known to have mild hypothyroidism. Sixteen children (11.5%) were receiving extra help in mainstream education compared with 18% of control children in the Scottish very low birth weight study.
The current screening programme is working well, but efficiency could be increased by earlier and more reliable Guthrie collection. A substantial proportion of children picked up on the screening programme have a transient rise in TSH rather than true congenital hypothyroidism. The incidence of special education and learning support in Scottish children with congenital hypothyroidism appears to be no different to that of the general population.
评估苏格兰先天性甲状腺功能减退症筛查项目的效率，并确定促甲状腺激素（TSH）检测呈阳性的儿童队列的结局。
为所有在格思里筛查中检测出TSH升高的苏格兰婴儿建立综合数据库。
1979年8月至1993年12月出生的344名婴儿，初次格思里筛查时TSH大于40 mU/l，或重复格思里筛查时TSH为15 - 40 mU/l。
以下各时间点的年龄：（a）采集格思里血样时；（b）实验室通知阳性结果时；（c）开始治疗时；对延迟诊断/漏诊病例进行审核；将阳性病例分类为确诊和疑似先天性甲状腺功能减退症、短暂性TSH升高及状态不明；确诊和疑似先天性甲状腺功能减退症儿童的教育状况。
344例阳性病例被分类为确诊先天性甲状腺功能减退症（224例）、疑似先天性甲状腺功能减退症（11例）、短暂性TSH升高（88例）及状态不明（21例）。确诊/疑似先天性甲状腺功能减退症的总体发病率为每4400例活产中有1例。对于确诊/疑似组，自1983年起，采集格思里血样的中位年龄始终在6至7天之间，但对于整个队列，10.5%的病例采集血样的中位年龄晚于10天。通知阳性结果的中位年龄从1980年的14天降至1993年的11天。自1983年起，开始治疗的中位年龄在11至15天之间。4例治疗延迟，3例是由于格思里卡片提交失败或延迟。在149名达到学龄的确诊/疑似先天性甲状腺功能减退症儿童中，139名（93%）的教育状况得以确定。只有2名儿童（1.4%）就读于特殊学校，其中1名已知患有轻度甲状腺功能减退症。16名儿童（11.5%）在主流教育中接受额外帮助，而在苏格兰极低出生体重研究中，对照组儿童的这一比例为18%。
当前的筛查项目运行良好，但通过更早且更可靠地采集格思里血样可提高效率。筛查项目中检出的相当一部分儿童TSH呈短暂升高，而非真正的先天性甲状腺功能减退症。苏格兰先天性甲状腺功能减退症儿童接受特殊教育和学习支持的发生率似乎与普通人群无异。
