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Abnormal Genetic Testing in Males With Concomitant Neurodevelopmental Disabilities and Genital Malformation
Pediatric Neurology ( IF 3.8 ) Pub Date : 2022-06-28 , DOI: 10.1016/j.pediatrneurol.2022.06.019
Tri Pham 1 , Akshat Patel 1 , Maishara Muquith 1 , Vincent Zimmern 2 , Kimberly Goodspeed 2
Affiliation  

Background

Neurodevelopmental disorders (NDDs) affect 1:6 children in the United States and are often linked to genetic disorders. Because many genes are enriched in brain and testicular tissue, genital malformations identified early may be a predictor of genetic disorders in children with NDDs. However, few studies have evaluated the specific effects of genital malformations. This study assesses the association between genital malformations and abnormal genetic testing among male patients with NDD.

Methods

A retrospective chart review was performed of 447 male patients seen at Children's Health Dallas (2009 to 2019) with concomitant genital malformations and NDDs. We assessed the strength of factors associated with obtaining a genetic test and having abnormal results.

Results

We identified 447 patients with concomitant genital malformations and NDD. Fifty-six percent (251 of 447) received genetic testing, of which 68.5% (172 of 251) had abnormal results. Patients with mixed genitourinary malformations, global developmental delay (GDD), intellectual delay, or autism spectrum disorder were more likely to have a genetic test. Patients with bilateral testicular involvement, GDD, severe language delay, wheelchair dependence, or abnormal magnetic resonance imaging findings were more likely to have abnormal results.

Conclusion

The diagnostic yield of 68.5% in our cohort of male patients with genital malformations was higher than previous reports of 5% to 35% in NDD populations. More severe phenotypic features may be associated with increased yield. Identification of genital malformations during infancy may guide clinical surveillance, and copresentations with NDDs may support genetic testing.



中文翻译:

伴有神经发育障碍和生殖器畸形的男性基因检测异常

背景

神经发育障碍 (NDD) 影响美国 1:6 的儿童,并且通常与遗传障碍有关。由于大脑和睾丸组织中富含许多基因,因此早期发现的生殖器畸形可能是 NDD 儿童遗传疾病的预测因子。然而,很少有研究评估生殖器畸形的具体影响。本研究评估了男性 NDD 患者生殖器畸形与异常基因检测之间的关联。

方法

对在达拉斯儿童健康中心(2009 年至 2019 年)就诊的 447 名伴有生殖器畸形和 NDD 的男性患者进行了回顾性图表审查。我们评估了与获得基因检测和异常结果相关的因素的强度。

结果

我们确定了 447 名伴有生殖器畸形和 NDD 的患者。56%(447 人中的 251 人)接受了基因检测,其中 68.5%(251 人中的 172 人)结果异常。患有混合性泌尿生殖系统畸形、发育迟缓 (GDD)、智力迟缓或自闭症谱系障碍的患者更有可能进行基因检测。双侧睾丸受累、GDD、严重语言发育迟缓、依赖轮椅或异常磁共振成像结果的患者更有可能出现异常结果。

结论

我们的生殖器畸形男性患者队列的诊断率为 68.5%,高于之前报告的 NDD 人群中 5% 至 35% 的诊断率。更严重的表型特征可能与产量增加有关。婴儿期生殖器畸形的鉴定可能指导临床监测,与 NDD 的共同表现可能支持基因检测。

更新日期:2022-06-28
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