Petterson Beverly, Bourke Jennifer, Leonard Helen, Jacoby Peter, Bower Carol
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia,West Perth, WA 6872, Australia.
Paediatr Perinat Epidemiol. 2007 Jan;21(1):65-75. doi: 10.1111/j.1365-3016.2007.00774.x.
This study used population-based databases to ascertain birth defects and intellectual disability (ID), defined as full IQ < 70, in children born in Western Australia during 1980-99. Of the children surviving to 1 year (n = 474 285), 4.9% had birth defects and 1.3% ID. ID was identified in 7.9% of children with birth defects. After adjusting for sex, mother's age, race, parity, plurality, birthweight and gestational age the prevalence ratio (PR) [95% confidence interval (CI)] for ID in children with birth defects compared with those with no birth defects was 7.6 [7.2, 8.0]. Those with chromosomal anomalies comprised 3.2% of the group with birth defects. The percentage ID (and PR [95% CI]) in specific categories were: Down's syndrome 97% (84.5 [79.4, 90.0]), sex chromosome anomalies 30.3% (31.0 [23.8, 40.3]), other chromosomal anomalies 64.2% (54.2 [47.2, 62.3]). Birth defects were categorised according to system in the 96.8% of children with non-chromosomal anomalies. The percentage with ID (and PR [95% CI]) for birth defects in each system were: spina bifida 18.8 (16.7 [12.2, 23.0]); nervous (except spina bifida) 38.6 (33.4 [30.3, 36.9]); cardiovascular 4.2 (4.1 [3.5, 4.8]); gastro-intestinal 2.2 (2.0 [1.5, 2.7]); urogenital 2.6 (2.4 [2.0, 2.8]; musculo-skeletal 3.6 (4.0 [3.5, 4.6]); other non-chromosomal 7.0 (7.3 [6.5, 8.3]); and multiple systems 12.3 (10.2 [8.6, 12.2]). Birth defects were present in 30.2% of children with ID (27.7% of children with mild/moderate ID (IQ 40-69) and 54% of children with severe ID (IQ < 40)). Adjusted PRs for birth defects in children with any ID, mild/moderate ID and severe ID compared with children with normal intellectual function were 6.0 [5.8, 6.3], 5.5 [5.3, 5.8] and 10.5 [9.7, 11.4] respectively. The data are useful for those providing services for children with developmental disabilities especially for predicting family support and respite and accommodation requirements for children and adults with severe ID.
本研究利用基于人群的数据库,确定了1980 - 1999年在西澳大利亚出生儿童中的出生缺陷和智力残疾(ID)情况,智力残疾定义为智商(IQ)低于70。在存活至1岁的儿童(n = 474285)中,4.9%有出生缺陷,1.3%有智力残疾。在有出生缺陷的儿童中,7.9%被认定有智力残疾。在对性别、母亲年龄、种族、产次、胎数、出生体重和孕周进行调整后,有出生缺陷儿童与无出生缺陷儿童相比,智力残疾的患病率比值(PR)[95%置信区间(CI)]为7.6 [7.2, 8.0]。染色体异常者占出生缺陷组的3.2%。特定类别中的智力残疾百分比(及PR [95% CI])为:唐氏综合征97%(84.5 [79.4, 90.0]),性染色体异常30.3%(31.0 [23.8, 40.3]),其他染色体异常64.2%(54.2 [47.2, 62.3])。在96.8%非染色体异常的儿童中,出生缺陷按系统分类。各系统出生缺陷的智力残疾百分比(及PR [95% CI])为:脊柱裂18.8(16.7 [12.2, 23.0]);神经系统(除脊柱裂外)38.6(33.4 [30.3, 36.9]);心血管系统4.2(4.1 [3.5, 4.8]);胃肠道2.2(2.0 [1.5, 2.7]);泌尿生殖系统2.6(2.4 [2.0, 2.8]);肌肉骨骼系统3.6(4.0 [3.5, 4.6]);其他非染色体异常7.0(7.3 [6.5, 8.3]);多系统12.3(10.2 [8.6, 12.2])。智力残疾儿童中有30.2%存在出生缺陷(轻度/中度智力残疾(IQ 40 - 69)儿童中有27.7%,重度智力残疾(IQ < 40)儿童中有54%)。与智力功能正常儿童相比,任何智力残疾儿童、轻度/中度智力残疾儿童和重度智力残疾儿童出生缺陷的调整后PR分别为6.0 [5.8, 6.3]、5.5 [5.3, 5.8]和10.5 [9.7, 11.4]。这些数据对为发育障碍儿童提供服务的人员很有用,特别是在预测重度智力残疾儿童及成人的家庭支持、临时照料和住宿需求方面。