对双重感官障碍遗传原因的多学科方法
Borja Arias-Peso1,2, María Luisa Calero-Ramos3, Cayetana López-Ladrón García de la Borbolla3
1Department of Ophthalmology, Miguel Servet University Hospital, 1-3 Isabel la Católica Street, 50009, Zaragoza, Spain. arias_bor@hotmail.com.
概括
遗传双感应障碍 (DSI),通常是失明和聋,主要是由阿舍尔综合征引起的,但也有其他遗传条件. 多学科的诊断方法有助于预后和管理.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 听力学 听力学是指听力学.
背景情况:
- 双感官障碍 (DSI) 涉及视力和听力损失.
- 遗传因素是DSI的重要贡献者.
- 阿舍尔综合征是DSI最常见的遗传原因.
研究的目的:
- 审查遗传双感觉障碍 (DSI) 的主要原因.
- 强调在诊断和管理DSI时采取多学科的方法.
- 讨论各种导致DSI的遗传综合征的诊断影响.
主要方法:
- 进行了叙事文学评论.
- 搜索的数据库包括 PubMed,Medline 和 Scopus.
- 包括2023年1月之前出版的文学作品.
主要成果:
- 阿舍尔综合征是最常见的DSI遗传原因.
- 其他遗传综合征,如阿尔波特综合征和斯蒂克勒综合征,也可能导致DSI.
- 视网膜表型,听力损失类型和全身症状有助于诊断.
- 眼科和耳鼻喉科检查,以及遗传研究,证实了诊断.
- 康复策略包括听力植入物和低视力装置.
结论:
- 阿舍尔综合征是遗传性DSI的关键原因,但其他遗传综合征也与此有关.
- 涉及视网膜表型和听力损失类型的诊断策略有助于区分原因.
- 多学科的方法对于准确的诊断至关重要,并且具有预后意义.
相关概念视频
Autism Spectrum Disorder
166
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.
166
Sensory Modalities
1.4K
Sensation typically is the process by which the sensory receptors and sense organs detect stimuli from the internal and external environment and transmit this information to the central nervous system for processing.
General senses refer to the broad category of sensory information detected by receptors in the body and can be further grouped into somatic and visceral senses. Somatic sensations include touch, pressure, temperature, and pain and are essential for navigating our environment and...
General senses refer to the broad category of sensory information detected by receptors in the body and can be further grouped into somatic and visceral senses. Somatic sensations include touch, pressure, temperature, and pain and are essential for navigating our environment and...
1.4K
Learning Disabilities
221
Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
Dyslexia
Dyslexia is a...
221
Taste Buds and Receptors
2.3K
Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...
2.3K
Overview of Somatic Sensory Pathways
4.7K
Somatic sensory or somatosensory pathways refer to the neural pathways that carry information related to touch, pressure, pain, temperature, and proprioception from the skin, muscles, tendons, and joints to the brain. These pathways involve several stages of processing and integration of sensory information.
The somatosensory system is divided into three main pathways: the dorsal (or posterior) column-medial lemniscus, spinothalamic (or anterolateral), and spinocerebellar pathways.
The dorsal...
The somatosensory system is divided into three main pathways: the dorsal (or posterior) column-medial lemniscus, spinothalamic (or anterolateral), and spinocerebellar pathways.
The dorsal...
4.7K
Major Somatic Sensory Pathways
1.1K
Sensory impulses related to touch, pressure, vibration, and proprioception from various body parts, such as the limbs, trunk, neck, and posterior head, travel to the cerebral cortex through the posterior column-medial lemniscus pathway. The pathway’s name derives from the two white-matter tracts that convey the impulses: the spinal cord's posterior column and the brainstem's medial lemniscus. First-order sensory neurons extend their axons into the spinal cord, forming the...
1.1K


