在332名北印度发育迟缓儿童中,MLPA的严重性评分截止值及其诊断产量
Priyanka Srivastava1, Parminder Kaur1, Roshan Daniel1
1Genetic Metabolic Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
Journal of pediatric genetics
|May 9, 2024
概括
多重结依赖探针放大 (MLPA) 在资源有限的环境中有效检测发育迟缓和智力残疾儿童的染色体异常. 德弗里斯分数截止值为3优化了MLPA作为这些条件的第一级测试.
科学领域:
- 遗传学 遗传学 是一个
- 临床诊断 临床诊断 临床诊断
- 发育儿科 发育儿科
背景情况:
- 染色体异常是智力障碍 (ID),发育迟缓 (DD) 和先天性形的主要原因.
- 型造型具有成本效益,但错过了小副本数的变化;染色体微阵列更全面,但价格昂贵,在全球范围内更难获得.
- 资源有限的环境需要为遗传疾病提供具有成本效益和可访问的诊断工具.
研究的目的:
- 评估多重联结依赖探头放大 (MLPA) 作为在资源有限的环境中具有成本效益的诊断工具的实用性.
- 根据临床数据建立最佳的德弗里斯分数截止值,以指导基于临床数据的MLPA测试选择.
- 评估MLPA在DD/ID儿童中常见的微切除综合征的诊断产量.
主要方法:
- 共有332名DD/ID的儿童,有或没有面部形和先天性形,使用MLPA探针组P245.5进行了测试.
- 评估了包括出生史,面部形,先天性形和家族史在内的临床变量.
- 对所有患者计算了德弗里斯得分,以确定适合MLPA查的切线.
主要成果:
- 在MLPA的研究中,染色体异常的总检测率为13.5% (45/332).
- 通常检测到的条件包括22q11.21删除 (迪乔治综合征),15q11.2删除 (安吉尔曼/普雷德-威利综合征) 和7q11.23删除 (威廉姆斯-伯伦综合征).
- 确定了2.5 (圆为3) 的最佳德弗里斯分数截止值,为MLPA测试产生了82.2%的灵敏度和66.7%的特异性.
结论:
- MLPA是检测无法解释的ID/DD和异形的儿童染色体异常的宝贵工具,特别是在资源有限的环境中.
- 德弗里斯得分,截止值为3或更高,可以有效地识别那些将受益于MLPA作为一级诊断测试的患者.
- 这项研究是对印度染色体异常的MLPA P245套件的最大评估,支持其临床实用性.
更多相关视频
09:16Use of a Video Scoring Anchor for Rapid Serial Assessment of Social Communication in Toddlers
Published on: March 14, 2018
10.2K
09:00Author Spotlight: Validation of SICOLE-R for Assessing Cognitive and Reading Skills in Spanish-Speaking Children and Its Role in Personalized Education
Published on: August 16, 2024
756
相关概念视频
01:29Intellectual Disability
49
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
49
01:22Self-Report Tests of Personality
340
Self-report inventories are objective personality assessments that use multiple-choice items or numbered scales, typically ranging from 1 (strongly disagree) to 5 (strongly agree). They are often called Likert scales after Rensis Likert. These inventories are widely used due to their ease of administration and cost-effectiveness. One of the most prominent examples is the Minnesota Multiphasic Personality Inventory (MMPI), initially developed in the 1940s to assess abnormal personality traits.
340