整合基因组变异和发育里程碑来预测自闭症儿童的认知和适应性结果
medRxiv : the preprint server for health sciences
|August 30, 2024
概括
整合遗传变异和发展里程碑的预测模型可以识别自闭症儿童的智力障碍 (ID). 这种方法有助于对神经发育障碍的早期干预.
科学领域:
- 神经发育医学 神经发育医学
- 遗传学 是一个遗传学.
- 儿科精神病学 儿科精神病学
背景情况:
- 自闭症谱系障碍 (ASD) 症状的早期识别发生在18-36个月.
- 临床医生缺乏对自闭症儿童同时出现的智力障碍 (ID) 的预测工具.
- 关于自闭症个体的长期发展轨迹存在不确定性.
研究的目的:
- 开发和验证自闭症儿童智力障碍 (ID) 的预测模型.
- 整合遗传变异和发育里程碑,以提高预测准确度.
- 评估预测模型在分层ID风险中的有用性.
主要方法:
- 使用遗传数据和来自三个队伍的5,633名自闭症儿童的发展里程碑的预测模型的开发.
- 将各种类型的遗传变异集成到预测模型中.
- 跨队列模型性能的交叉验证和概括测试.
主要成果:
- 综合预测模型实现了0.65的AUC ROC,证明了交叉验证和通用性能.
- 积极的预测值达到了55%,成功识别了10%的ID病例.
- 使用遗传变异对ID的预测准确性在与典型发育儿童相比,在延迟里程碑的儿童中是两倍的.
结论:
- 结合基因组学和临床数据的综合模型显示出预测神经发育结果的前景.
- 这些模型可以帮助识别患有智力障碍风险较高的自闭症儿童.
- 研究结果支持预测分析在个性化神经发育医学和有针对性的干预措施中的潜力.
更多相关视频
08:30Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
1.5K
11:14A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants
Published on: October 4, 2015
10.9K
相关概念视频
Autism Spectrum Disorder
77
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.
77
Biological Influences on Intelligence
83
Intelligence is often thought to be linked to brain size, but the relationship is more complex than that. While brain size does correlate modestly with some abilities, like verbal skills, the connection is weaker for others, such as spatial reasoning. Other factors, like brain structure, also play crucial roles. For instance, despite Einstein's smaller-than-average brain, his parietal cortex, which is involved in spatial reasoning, was 15% wider, suggesting that neural density might matter...
83
Human Genetics
549
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
549
Information Processing Approach
32
The information-processing theory of cognitive development centers on fundamental mental processes, including attention, memory, and problem-solving skills. Researchers in this field examine how cognitive abilities, such as working memory, evolve and influence children's overall development. Studies indicate that children with stronger working memory tend to excel in reading comprehension, math, and problem-solving compared to peers with less efficient memory skills. Low working memory is...
32
Behavioral Genetics and Its Designs
345
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...
345
Cognitive Development During Adolescence
48
During adolescence, individuals experience significant cognitive development that enhances their understanding of others' emotions and thoughts, known as cognitive empathy. This period is marked by an increased ability to adapt to others' perspectives and a more nuanced understanding of others' mental states, a skill that is foundational for social problem-solving and conflict avoidance. The development of cognitive empathy relies heavily on the theory of mind — the...
48
