裂口群中的自闭症谱系障碍:评估非综合征患者的发生情况
Molly F MacIsaac1, Alyssa Fritz2, Melissa L Crenshaw3
1Division of Plastic and Reconstructive Surgery, Johns Hopkins All Children's Hospital, St. Petersburg, FL, USA.
概括
自闭症谱系障碍 (ASD) 在患有非综合症口腔裂 (OFC) 的儿童中比以前认为的更常见. 有口腔裂的儿童和来自弱势背景的儿童可能面临更高的风险.
科学领域:
- 儿童健康
- 儿童发育医学
- 遗传学
背景情况:
- 耳鼻裂 (OFC) 是一种常见的先天性缺陷,与自闭症谱系障碍 (ASD) 等神经发育疾病的同时发生需要进行调查.
- 了解OFC群体中自闭症的患病率和相关因素对于早期识别和干预至关重要.
研究的目的:
- 在非综合征性OFC患者中量化ASD患病率.
- 检查与此群体中自闭症相关的社会人口结构,表型和遗传因素.
- 在综合症和非综合症OFC病例中比较ASD患病率.
主要方法:
- 对412名OFC患者 (年龄在2至20岁) 的回顾性病理表.
- 评估自闭症诊断或关注,综合征状态,裂表型和社会经济指数 (区域贫困指数 [ADI],儿童机会指数 [COI]).
主要成果:
- 总体而言,7. 0% 的OFC患者被诊断为ASD;7. 8% 的非综合症OFC患者患有ASD,比之前估计的高3. 9倍.
- 只有非综合症口腔裂 (CP) 患者的自闭症诊断率最高 (9. 8%).
- 在非综合症的OFC中,ASD与较高的ADI和较低的COI相关,表明社会经济劣势.
结论:
- 在非综合征性OFC患者中,自闭症的发病率比之前报告的更高.
- 患有脊髓炎的儿童和来自弱势家庭的儿童似乎患有自闭症的风险较高.
- 建议对所有OFC患者进行常规发育监测,以早期识别和干预ASD.
相关概念视频
01:19Autism Spectrum Disorder
336
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.
336
01:35Pedigree Analysis
85.1K
Overview
85.1K
01:26Modeling in Therapy
145
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...
145
01:28Social Anxiety Disorder
78
Social anxiety disorder, also known as social phobia, is characterized by an intense fear of social situations where one might face humiliation, rejection, embarrassment, or negative evaluation. This disorder leads individuals to avoid activities like casual conversations, public speaking, or seemingly simple tasks such as eating, signing documents, or swimming, in public settings. Its impact extends beyond discomfort, often significantly interfering with daily functioning and quality of life.
78
01:29Nondisjunction
76.3K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
76.3K
01:23Cystic Fibrosis: Pathogenesis
360
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
360