Srour Myriam, Mazer Barbara, Shevell Michael I
Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Department of Neurology/Neurosurgery, Montreal, Quebec, Canada.
Pediatrics. 2006 Jul;118(1):139-45. doi: 10.1542/peds.2005-2702.
Global developmental delay is a common reason for presentation for neurologic evaluation. This study examined the role of clinical features in predicting the identification of an underlying cause for a child's global developmental delay.
Over a 10-year inclusive interval, the case records of all consecutive children <5 years of age referred to a single ambulatory practice setting for global developmental delay were systematically reviewed. The use of clinical features in predicting the identification of a specific underlying cause for a child's delay was tested using chi2 analysis.
A total of 261 patients eventually met criteria for study inclusion. Mean age at initial evaluation was 33.6 months. An underlying cause was found in 98 children. Commonest etiologic groupings were genetic syndrome/chromosomal abnormality, intrapartum asphyxia, cerebral dysgenesis, psychosocial deprivation, and toxin exposure. Factors associated with the ability to eventually identify an underlying cause included female gender (40 of 68 vs 58 of 193), abnormal prenatal/perinatal history (52 of 85 vs 46 of 176), absence of autistic features (85 of 159 vs 13 of 102), presence of microcephaly (26 of 40 vs 72 of 221), abnormal neurologic examination (52 of 71 vs 46 of 190), and dysmorphic features (44 of 84 vs 54 of 177). In 113 children without any abnormal features identified on history or physical examination, routine screening investigations (karyotype, fragile X molecular genotyping, and neuroimaging) revealed an underlying etiology in 18.
Etiologic yield in an unselected series of young children with global developmental delay is close to 40% overall and 55% in the absence of any coexisting autistic features. Clinical features are readily apparent that may enhance an expectation of a successful etiologic search. Screening investigations may yield an underlying cause.
全球发育迟缓是进行神经学评估的常见就诊原因。本研究探讨了临床特征在预测儿童全球发育迟缓潜在病因诊断中的作用。
在一个为期10年的完整时间段内,对所有转诊至单一门诊机构因全球发育迟缓就诊的连续5岁以下儿童的病例记录进行系统回顾。使用卡方分析检验临床特征在预测儿童发育迟缓特定潜在病因诊断中的作用。
共有261例患者最终符合研究纳入标准。初次评估时的平均年龄为33.6个月。98名儿童发现了潜在病因。最常见的病因分类为遗传综合征/染色体异常、产时窒息、脑发育不全、心理社会剥夺和毒素暴露。与最终能够确定潜在病因相关的因素包括女性性别(68例中的40例 vs 193例中的58例)、异常的产前/围产期病史(85例中的52例 vs 176例中的46例)、无自闭症特征(159例中的85例 vs 102例中的13例)、小头畸形(40例中的26例 vs 221例中的72例)、异常的神经学检查(71例中的52例 vs 190例中的46例)和畸形特征(84例中的44例 vs 177例中的54例)。在113例病史或体格检查未发现任何异常特征的儿童中,常规筛查检查(核型分析、脆性X分子基因分型和神经影像学检查)在18例中发现了潜在病因。
在未经筛选的一系列全球发育迟缓幼儿中,总体病因检出率接近40%,在无任何并存自闭症特征的情况下为55%。易于发现的临床特征可能会提高成功进行病因查找的预期。筛查检查可能会发现潜在病因。