van Karnebeek Clara D M
Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):228-247. doi: 10.1212/CON.0000000000000564.
This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in children.
With a prevalence of 1% to 3% and substantial comorbidity, high lifetime costs, and emotional burden, intellectual developmental disorder is characterized by limitations in both intellectual functioning (IQ less than 70) and adaptive behavior starting before 18 years of age. Pinpointing the precise genetic cause is important, as it allows for accurate genetic counseling, avoidance of unnecessary testing, prognostication, and tailored management, which, for an increasing number of genetic conditions, targets the pathophysiology and improves outcomes.
The etiology of intellectual developmental disorder is heterogeneous, which mandates a structured approach that considers family situation, test costs, yield, and potential therapeutic tractability of the identified condition. Diagnosis of an underlying genetic cause is increasingly important with the advent of new treatments. Still, in many cases, the cause remains unknown, and research is needed to elucidate its complex molecular basis.
本文讨论智力发育障碍的诊断评估，包括儿童的全面发育迟缓与智力残疾。
智力发育障碍的患病率为1%至3%，存在大量共病情况，终生成本高昂且有情感负担，其特征为智力功能（智商低于70）和18岁之前开始的适应性行为均受限。明确确切的遗传病因很重要，因为这有助于进行准确的遗传咨询、避免不必要的检测、进行预后评估以及制定个性化管理方案，对于越来越多的遗传疾病而言，这些方案针对病理生理学并改善治疗结果。
智力发育障碍的病因具有异质性，这就需要一种结构化方法，该方法要考虑家庭情况、检测成本、检测结果以及所确定疾病的潜在治疗易处理性。随着新疗法的出现，诊断潜在的遗传病因变得越来越重要。然而，在许多情况下，病因仍然不明，需要开展研究以阐明其复杂的分子基础。
