Kempers M J E, van der Sluijs Veer L, Nijhuis-van der Sanden M W G, Kooistra L, Wiedijk B M, Faber I, Last B F, de Vijlder J J M, Grootenhuis M A, Vulsma T
Emma Children's Hospital Academic Medical Center, Department of Pediatric Endocrinology, Academic Medical Center, University of Amsterdam, G8-205, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.
J Clin Endocrinol Metab. 2006 Feb;91(2):418-24. doi: 10.1210/jc.2005-1209. Epub 2005 Nov 22.
Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood.
The objective of this study was to examine cognitive and motor functioning in young adults with congenital hypothyroidism, born in the first 2 yr after the introduction of the Dutch neonatal screening program.
DESIGN/SETTING/PATIENTS: Seventy patients were tested (mean age, 21.5 yr); 49 of them were previously tested at 9.5 yr. The median age at the start of treatment was 28 d (range, 4-293 d). Congenital hypothyroidism was classified as severe, moderate, or mild, according to pretreatment T(4) concentrations.
The main outcome measurement was the influence of the severity of congenital hypothyroidism and age at which T(4) supplementation was started on cognitive and motor outcome.
Patients, particularly those with severe congenital hypothyroidism, had significantly higher (i.e. worse) motor scores (total score, 7.8; ball skills, 2.0; balance, 4.1) compared with controls (total score, 3.2; ball skills, 0.7; balance, 1.1), and lower full-scale (95.8), verbal (96.4), and performance (95.6) intelligence quotient (IQ) scores than the normal population. No significant change in IQ from childhood to adulthood was found, and for the majority of patients, motor score classification remained the same. The severity of congenital hypothyroidism, but not the starting day of treatment, was correlated with IQ and motor scores.
It is concluded that the severity of congenital hypothyroidism, but not the timing of treatment initiation, is an important factor determining long-term cognitive and motor outcome. Clearly, detrimental effects on developmental outcome in patients with congenital hypothyroidism persist over time.
关于通过新生儿筛查诊断出的先天性甲状腺功能减退成年患者认知和运动功能的长期随访数据稀缺。因此，尚不清楚儿童期经常报告的认知和运动缺陷在成年期是否持续存在。
本研究的目的是检查在荷兰新生儿筛查计划实施后的头2年出生的先天性甲状腺功能减退青年成人的认知和运动功能。
设计/地点/患者：对70名患者进行了测试（平均年龄21.5岁）；其中49名患者曾在9.5岁时接受过测试。开始治疗的中位年龄为28天（范围4 - 293天）。根据治疗前的T4浓度，先天性甲状腺功能减退被分为重度、中度或轻度。
主要结局指标是先天性甲状腺功能减退的严重程度以及开始补充T4的年龄对认知和运动结局的影响。
与对照组相比，患者，尤其是重度先天性甲状腺功能减退患者，运动评分显著更高（即更差）（总分7.8；球类技能2.0；平衡4.1），而对照组的总分3.2；球类技能0.7；平衡1.1，并且患者的全量表（95.8）、言语（96.4）和操作（95.6）智商得分低于正常人群。未发现从儿童期到成年期智商有显著变化，并且对于大多数患者，运动评分分类保持不变。先天性甲状腺功能减退的严重程度而非治疗开始日与智商和运动评分相关。
得出的结论是，先天性甲状腺功能减退的严重程度而非治疗开始时间是决定长期认知和运动结局的重要因素。显然，先天性甲状腺功能减退患者对发育结局的有害影响会随着时间持续存在。
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