Cole Jordan J, Aravamuthan Bhooma R
Department of Neurology, Washington University in St. Louis.
Neurol Clin Pract. 2023 Dec;13(6):e200192. doi: 10.1212/CPJ.0000000000200192. Epub 2023 Oct 2.
Global developmental delay/intellectual disability (GDD/ID) are among the most common neurologic conditions evaluated by child neurologists in the United States. No recent neurology-specific guidelines for GDD/ID diagnostic evaluation exist, which could lead to practice variability. We assessed current practices in GDD/ID diagnostic evaluation among US child neurologists, including drivers of exome sequencing (ES).
A 19-item online anonymous survey was distributed between April 2021 and September 2021 to 953 eligible child neurologists by email and/or online platforms through the American Academy of Neurology and Child Neurology Society. Multinomial logistic regression was used to determine the predictors of sending ES as a part of GDD/ID diagnostic evaluation.
Of 172 unique respondents, 69.2% reported almost always obtaining a chromosomal microarray while 10.5% reported almost always pursuing ES. However, 65.1% identified ES as a first-tier diagnostic test for GDD/ID. Clinical practice demographics independently associated with a higher likelihood of pursuit of ES were more years of experience ( = 0.002) and more people with GDD/ID in one's practice ( < 0.001). Inclusion of brain MRI, EEG, and metabolic laboratory values as part of GDD/ID diagnostic evaluation varied widely. Modalities to screen for treatable disorders (ES or metabolic laboratory values) were reported to be consistently used by only 24.8% of respondents. Respondents identified key barriers to the pursuit of ES including the need for genetics referral/genetic counseling and insurance coverage/out-of-pocket cost.
Among US child neurologists, there is marked practice variability in GDD/ID diagnostic evaluation across multiple types of testing, raising concern for disparities in care. There is a widespread lack of screening for treatable causes of ID, which may lead to missed diagnoses and avoidable morbidity. Despite most respondents' support for ES as a first-tier diagnostic test for GDD/ID, only a small minority routinely pursue ES as a part of their evaluation. Provider-level factors (years of experience, percent of patients with GDD/ID) and system-level barriers (access to genetics expertise, lack of insurance coverage) were determinants of the frequency of use of ES. These findings suggest the need for updated consensus guidelines and advocacy/education to improve child neurologists' ability to pursue ES for GDD/ID.
全球发育迟缓/智力残疾（GDD/ID）是美国儿童神经科医生评估的最常见神经系统疾病之一。目前尚无针对GDD/ID诊断评估的最新神经科特定指南，这可能导致临床实践的差异。我们评估了美国儿童神经科医生在GDD/ID诊断评估中的当前实践，包括外显子组测序（ES）的驱动因素。
2021年4月至2021年9月期间，通过美国神经病学学会和儿童神经病学学会，通过电子邮件和/或在线平台向953名符合条件的儿童神经科医生发放了一份包含19个项目的在线匿名调查问卷。采用多项逻辑回归来确定将ES作为GDD/ID诊断评估一部分的预测因素。
在172名独立受访者中，69.2%报告几乎总是进行染色体微阵列检测，而10.5%报告几乎总是进行ES检测。然而，65.1%将ES确定为GDD/ID的一线诊断测试。与更有可能进行ES检测独立相关的临床实践人口统计学因素是更多的工作年限（P = 0.002）以及在其临床实践中更多的GDD/ID患者（P < 0.001）。将脑部MRI、脑电图和代谢实验室值纳入GDD/ID诊断评估的情况差异很大。据报告，只有24.8%的受访者始终使用筛查可治疗疾病的方法（ES或代谢实验室值）。受访者确定了进行ES检测的主要障碍，包括需要遗传学转诊/遗传咨询以及保险覆盖范围/自付费用。
在美国儿童神经科医生中，GDD/ID诊断评估在多种检测类型中存在明显的实践差异，这引发了对医疗差异的担忧。普遍缺乏对可治疗的智力残疾病因的筛查，这可能导致漏诊和可避免的发病率。尽管大多数受访者支持将ES作为GDD/ID的一线诊断测试，但只有一小部分人在评估中常规进行ES检测。提供者层面的因素（工作年限、GDD/ID患者百分比）和系统层面的障碍（获得遗传学专业知识、缺乏保险覆盖）是ES使用频率的决定因素。这些发现表明需要更新共识指南以及进行宣传/教育，以提高儿童神经科医生对GDD/ID进行ES检测的能力。
