在RASopathies中自闭症谱系障碍的个人资料:系统性审查
Edward Debbaut1,2, Jean Steyaert1,2, Mouna El Bakkali3
1Center for Developmental Psychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Molecular genetics & genomic medicine
|April 6, 2024
概括
拉斯病 (Ras-MAPK通路相关疾病) 与异常性ASD相比没有明显的自闭症谱系障碍 (ASD) 概况. 研究的局限性可能会掩盖RASopathies内ASD呈现的潜在差异.
科学领域:
- 遗传学和发育生物学
- 神经发育障碍 神经发育障碍
- 临床医学 临床医学
背景情况:
- 拉索病症与自闭症谱系障碍 (ASD) 的风险增加有关.
- 虽然这种关联在1型神经纤维素瘤病 (NF1) 中得到了充分的证据,但在其他RAS病中研究较少.
- 对于RASopathies或该组内的单个疾病,尚未确定任何独特的ASD配置文件.
结论:
- 没有令人信服的证据支持在RASopathies中与iASD相比或在单个RASopathies中支持特定的ASD概况.
- 当前研究文献的重大局限性可能有助于这一发现.
- 为了解决这些局限性,为未来的研究提供了建议.
相关概念视频
01:19Autism Spectrum Disorder
88
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.
88
02:38The Ras Gene
6.2K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
6.2K
01:26Modeling in Therapy
72
Modeling, a key technique in therapy, uses observational learning to help clients acquire and practice new skills by watching therapists demonstrate desired behaviors. This approach, rooted in Albert Bandura's concept of vicarious learning, plays a significant role in therapeutic interventions for various psychological conditions, including social anxiety, ADHD, and depression.
Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in...
Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in...
72
01:35Pedigree Analysis
84.2K
Overview
84.2K
01:30Attention-Deficit/Hyperactivity Disorder
57
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....
57