痴呆症护理研究和心理社会因素
Devon M Chenette1, Stella McCaughey1, Robert Reinecker2
1Alector, South San Francisco, CA, USA.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
对前性痴呆症 (FTD) 的基因测试未得到充分利用,只有不到四分之一的患者接受了它. 对于家庭来说,对遗传FTD及其测试的认识至关重要,以评估风险和获得治疗.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 前性痴呆症 (FTD) 是一种早期发作的神经退行性疾病,影响行为和语言.
- 大约20%的FTD病例具有自体主导遗传模式.
- GRN,MAPT和C9orf72基因突变是遗传性FTD最常见的原因.
研究的目的:
- 评估FTD诊断患者及其生物亲属的基因检测率.
- 为了确定与FTD家族中更高的遗传测试率相关的因素.
主要方法:
- 分析了FTD洞察调查,来自美国,英国和加拿大的1800个回答.
- 数据集中在被诊断的患者及其亲属中FTD遗传检测的反应上.
- 分析包括FTD患者和被诊断为FTD的家庭成员的亲属,不包括被诊断为FTD的亲属.
主要成果:
- 只有23.3%的FTD患者和12.4%的亲属报告接受了基因检测.
- 患有FTD-ALS的人群的基因检测率最高 (88.9%为患者,25.6%为亲属).
- 在已知FTD家族史的人群中,基因检测率更高.
结论:
- 在FTD患者和家属中,基因检测的普及率仍然很低,尽管该疾病具有显著的遗传成分.
- 低测试率阻碍了家庭风险评估和有针对性的治疗的资格.
- 在医疗保健提供者,患者和亲属中提高对遗传FTD的认识至关重要.
更多相关视频
08:36The Immersive Cleveland Clinic Virtual Reality Shopping Platform for the Assessment of Instrumental Activities of Daily Living
Published on: July 28, 2022
4.3K
10:13Assessment of Age-related Changes in Cognitive Functions Using EmoCogMeter, a Novel Tablet-computer Based Approach
Published on: February 14, 2014
14.1K
相关概念视频
Dementia
482
Dementia is a collective term for cognitive disorders primarily affecting memory, thinking, and reasoning. It is not a specific disease but a syndrome, with Alzheimer's disease being the most common cause, accounting for approximately 60-80% of cases. Other types include vascular dementia, Lewy body dementia, and frontotemporal dementia. Dementia affects millions worldwide, particularly older adults, though it is not a normal part of aging.
The progression of dementia is generally gradual....
The progression of dementia is generally gradual....
482
Psychological and Sociocultural Causes of Schizophrenia
438
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
438
Alzheimer's Disease: Overview
1.6K
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
1.6K
Alzheimer's Disease: Treatment
744
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
744
Cognitive Development During Adulthood
740
Cognitive development continues throughout adulthood, undergoing significant shifts across early, middle, and late stages. Individual transition occurs from adolescent idealism to pragmatic and adaptable thinking in early adulthood. During this period, individuals learn to integrate personal beliefs with the recognition that other perspectives are equally valid. Exposure to the complexities of modern society, diverse experiences, and higher education contribute to this adaptive thought process,...
740
Documentation in Long-Term and Home Healthcare Setting
1.4K
Documentation in long-term care facilities and home healthcare settings is crucial for ensuring continuous, coordinated, and comprehensive care for patients. Each setting has its specific documentation processes and tools:
Long-Term Care Facilities
Long-Term Care Facilities
1.4K
