自闭症谱系障碍与先天性形之间的关联:基于人口的嵌套病例对照研究
Rony Cleper1, Ori Kapra2, Nadav Goldental3
1Gray Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel. rcleper@gmail.com.
Molecular psychiatry
|October 15, 2025
概括
在婴儿中,先天性形 (CM) 更常见,后者会发展为自闭症谱系障碍 (ASD). 特定的CM,如男性的泌尿生殖系统和女性的循环系统,可以作为ASD早期标志物.
科学领域:
- 发育儿科 发育儿科
- 自闭症谱系障碍研究研究
- 遗传性缺陷 遗传性缺陷是一种先天性缺陷
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况.
- 先天性形 (CM) 是存在于出生时的结构或功能异常.
- CM和ASD之间的关联需要进一步调查.
研究的目的:
- 调查出生时检测到的特定先天性形 (CM) 与发展自闭症谱系障碍 (ASD) 的可能性之间的联系.
- 为了确定潜在的性别特异性CM作为ASD风险的早期标志物.
主要方法:
- 一项病例控制研究嵌在以色列国家出生登记处的12年出生队列中.
- 包括2099个自闭症病例和1:1年龄和性别匹配的对照.
- 根据出生体重,父母年龄,种族和母亲移民情况进行调整.
主要成果:
- 在ASD组中,CM更为普遍 (OR 1.75).
- 循环和泌尿器官CM在ASD病例中最常见.
- 生殖器CM与男性的ASD相关 (aOR 2.24),而非生殖尿路CM与女性的ASD相关 (aOR 3.47).
结论:
- 先天性形,特别是男性的尿生殖系统和女性的循环系统,在被诊断为ASD的新生儿中更为普遍.
- 这些特定于性别的CM可以作为ASD的宝贵产前和产后标志物.
- 这些发现可能会指导未来的研究,以了解ASD背后的遗传和产前因素.
相关概念视频
Autism Spectrum Disorder
962
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
962
Genome-wide Association Studies-GWAS
15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.3K
Attention-Deficit/Hyperactivity Disorder
743
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
743
Pedigree Analysis
88.8K
Overview
88.8K
Behavioral Genetics and Its Designs
1.0K
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.0K
Nondisjunction
4.8K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.8K


