Yield of Genetic Testing in Children with Autism Spectrum Disorder - A Single-Center Experience.

IF 1.9 4区医学 Q3 CLINICAL NEUROLOGY

Annals of Indian Academy of Neurology Pub Date : 2025-03-21 DOI:10.4103/aian.aian_724_24

Kriti Arora, Minakshi Balwani, Akash Wakchaure, Gouri R Passi

引用次数: 0

Abstract

Abstract: Identifying genetic etiologies is an important consideration in the comprehensive management of autism spectrum disorder (ASD). In this study, we aimed to evaluate and compare the diagnostic yield of genetic tests in ASD. This retrospective descriptive study evaluated and compared the diagnostic yield of genetic tests in patients with ASD in a teaching hospital from Central India between 2018 and 2023. Fifty-four patients were tested. Pathogenic/likely pathogenic variants were identified in 13 (24.07%) patients. Yield of whole exome sequencing (WES), 12/27 (44.49%), was more than that of chromosomal microarray (CMA) 1/30 (3.3%) (P < 0.05). Fragile-X gene mutation was detected in 0/14 patients tested. Patients with motor delay and hand stereotypes were more likely to have pathogenic variants on WES. The most common pathogenic gene identified was the MECP2 gene (5/12, 41.66%). Genetic abnormalities were identified in 24.07% of children with ASD. WES had higher diagnostic yield than CMA.

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自闭症谱系障碍儿童基因检测的产量-单中心经验。

摘要：确定遗传病因是自闭症谱系障碍（ASD）综合管理的重要考虑因素。在本研究中，我们旨在评估和比较基因检测对ASD的诊断率。这项回顾性描述性研究评估并比较了2018年至2023年印度中部一家教学医院ASD患者基因检测的诊断率。54名患者接受了测试。13例（24.07%）患者发现致病性/可能致病性变异。全外显子组测序（WES）的产率为12/27(44.49%)，高于染色体微阵列测序（CMA）的1/30 (3.3%)（P < 0.05）。在检测的0/14例患者中检测到脆性x基因突变。运动迟缓和手部刻板印象的患者更有可能出现WES的致病变异。最常见的致病基因为MECP2基因（5/12,41.66%）。24.07%的ASD患儿存在遗传异常。WES的诊断率高于CMA。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Indian Academy of Neurology Nervous System Diseases-

CiteScore

2.20

自引率

11.80%

发文量

293

审稿时长

29 weeks

期刊介绍： The journal has a clinical foundation and has been utilized most by clinical neurologists for improving the practice of neurology. While the focus is on neurology in India, the journal publishes manuscripts of high value from all parts of the world. Journal publishes reviews of various types, original articles, short communications, interesting images and case reports. The journal respects the scientific submission of its authors and believes in following an expeditious double-blind peer review process and endeavors to complete the review process within scheduled time frame. A significant effort from the author and the journal perhaps enables to strike an equilibrium to meet the professional expectations of the peers in the world of scientific publication. AIAN believes in safeguarding the privacy rights of human subjects. In order to comply with it, the journal instructs all authors when uploading the manuscript to also add the ethical clearance (human/animals)/ informed consent of subject in the manuscript. This applies to the study/case report that involves animal/human subjects/human specimens e.g. extracted tooth part/soft tissue for biopsy/in vitro analysis.