Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Centre, , Montreal, Quebec, Canada.
Arch Dis Child. 2014 Apr;99(4):386-9. doi: 10.1136/archdischild-2013-304063. Epub 2013 Dec 16.
Global developmental delay and intellectual disabilities are common reasons for diagnostic assessment by paediatricians. There are a multiplicity of possible causes many of which have genetic, management and treatment implications for the child and family. Genetic causes are estimated to be responsible for approximately a quarter to one-half of identified cases. The multiplicity of individually rare genetic causes challenges the practitioner with respect to the selection of diagnostic tests and accurate diagnosis. To assist the practitioner practice guidelines have been formulated and these are reviewed and summarised in this particular article.
全球发育迟缓与智力障碍是儿科医生进行诊断评估的常见原因。这些病症可能有很多潜在病因，其中许多病因与儿童及其家庭的遗传、管理和治疗相关。据估计，遗传病因约占已确认病例的四分之一到一半。由于单独罕见的遗传病因众多，这给医生选择诊断测试和准确诊断带来了挑战。为帮助医生，已制定了相关临床实践指南，本文对这些指南进行了回顾和总结。
