Characterization of Primary IGF-1 Deficiency in a Cohort of Canadian Children with Short Stature Using a Novel Algorithm Tailored to Electronic Medical Records

Children Pub Date : 2024-06-14 DOI:10.3390/children11060727
Rinila Haridas, Carly Baxter, Saunya Dover, Ellen B. Goldbloom, Ivan Terekhov, M. Robinson
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Abstract

(1) Background: Severe primary insulin-like growth factor-I deficiency (SPIGFD) is a rare disorder causing short stature in children due to low insulin-like growth factor 1 (IGF-1) levels. Given the sparsity of reported cases of SPIGFD worldwide, the condition may be underdiagnosed, potentially preventing affected children from receiving therapy with recombinant human IGF-1 (rhIGF-1). Our objective was to determine the prevalence of SPIGFD among children with short stature at a large pediatric tertiary care center through the use of a novel electronic medical record (EMR) algorithm. (2) Methods: We queried our EMR using an algorithm that detected all children seen at our center between 1 November 2013 and 31 August 2021 with short stature and low IGF-1. We then conducted chart reviews, applying established diagnostic criteria for those identified with potential SPIGFD. (3) Results: From a cohort of 4863 children with short stature, our algorithm identified 30 (0.6%) patients with potential SPIGFD. Using chart reviews, we determined that none of these patients had SPIGFD. (4) Conclusions: Our algorithm can be used in other EMRs to identify which patients are likely to have SPIGFD and thus benefit from treatment with rhIGF-1. This model can be replicated for other rare diseases.
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利用适合电子病历的新算法确定加拿大矮身材儿童队列中原发性 IGF-1 缺乏症的特征
(1) 背景:严重原发性胰岛素样生长因子-I缺乏症(SPIGFD)是一种罕见的疾病,由于胰岛素样生长因子1(IGF-1)水平低而导致儿童身材矮小。由于全球报告的 SPIGFD 病例很少,该病可能诊断不足,从而可能导致患儿无法接受重组人 IGF-1 (rhIGF-1) 治疗。我们的目的是通过使用新型电子病历(EMR)算法,确定一家大型儿科三级医疗中心身材矮小儿童中 SPIGFD 的患病率。(2)方法:我们使用一种算法查询了本中心的电子病历,该算法能检测出 2013 年 11 月 1 日至 2021 年 8 月 31 日期间在本中心就诊的所有身材矮小且 IGF-1 偏低的儿童。然后,我们进行了病历审查,对那些被确定为潜在 SPIGFD 的患儿采用既定的诊断标准。(3)结果:在 4863 名身材矮小的儿童中,我们的算法发现了 30 名(0.6%)潜在的 SPIGFD 患者。通过病历审查,我们确定这些患者中没有一人患有 SPIGFD。(4) 结论:我们的算法可用于其他 EMR,以确定哪些患者可能患有 SPIGFD,从而受益于 rhIGF-1 的治疗。这种模式也可用于其他罕见病。
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