Meschino Wendy S
Department of Genetics, North York General Hospital, Toronto, Ontario.
Paediatr Child Health. 2003 Jan;8(1):16-9. doi: 10.1093/pch/8.1.16.
To describe an approach to history, physical examination and investigation for the developmentally delayed child.
A review of electronic databases from 1997 to 2001 was done searching for articles relating to the approach to or investigations of children with developmental delay. Five studies, including a review of a consensus conference on evaluation of mental retardation, were chosen because of their general approaches to developmental delay and/or mental retardation, or specific evaluations of a particular laboratory investigation.
A diagnosis or cause of mental retardation can be identified in 20% to 60% of cases. Evaluation of the developmentally delayed child should include a detailed history and physical examination, taking special care to record a three-generation pedigree, as well as to look for dysmorphic features. If no other cause is apparent, routine investigations should include a chromosome study and fragile X studies. Further investigations are warranted depending on the clinical features.
描述一种针对发育迟缓儿童的病史采集、体格检查及调查方法。
检索1997年至2001年的电子数据库，查找与发育迟缓儿童的处理方法或调查相关的文章。选择了五项研究，包括对一次智力发育迟缓评估共识会议的综述，原因在于它们对发育迟缓及/或智力发育迟缓的总体处理方法，或对特定实验室检查的具体评估。
在20%至60%的病例中可确定智力发育迟缓的诊断或病因。对发育迟缓儿童的评估应包括详细的病史采集和体格检查，特别注意记录三代家系谱，并留意畸形特征。如果没有明显的其他病因，常规检查应包括染色体研究和脆性X研究。根据临床特征有必要进行进一步检查。
