对患有全球发育迟缓或智力残疾的儿童进行全面评估
Abdullah Nasser Aldosari1, T Saeed Aldosari2
1Department of Pediatrics, King Fahad Hospital, Al Baha, Saudi Arabia.
Clinical and experimental pediatrics
|May 29, 2024
概括
全球发育迟缓 (GDD) 和智力障碍 (ID) 是常见的神经发育障碍. 遗传因素是关键因素,先进的测试和早期干预改善了受影响儿童的结果.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 发育儿科 发育儿科
背景情况:
- 全球发育迟缓 (GDD) 和智力障碍 (ID) 是普遍存在的神经发育障碍,具有不同的病因.
- 遗传因素约占所有GDD/ID病例的一半,需要彻底调查.
- 准确的诊断对于有效的管理和改善患者的结果至关重要.
研究的目的:
- 审查目前对GDD/ID风险因素和原因的理解.
- 探索GDD/ID遗传评估的最新进展和建议.
- 概述GDD/ID儿童的有效管理策略.
主要方法:
- 关于GDD/ID病因,诊断和管理的当前文献的综述.
- 强调遗传测试方式,包括染色体微阵列,脆弱X,雷特综合征评估,全外体和全基因组测序.
- 讨论基因治疗和早期干预的作用.
主要成果:
- 遗传因素是GDD/ID的重要原因,先进的遗传测试改善了诊断产量.
- 染色体微阵列现在是异常性GDD/ID的标准,以及脆弱X和雷特综合征的特定评估.
- 全外体和全基因组测序提供了增强的诊断能力.
结论:
- 早期和全面的遗传评估对于诊断GDD/ID至关重要.
- 基因疗法为遗传发育障碍提供了一个有希望的未来治疗途径.
- 多学科的早期干预,与父母的积极参与,显著改善了GDD/ID的儿童的预后.
更多相关视频
10:11Portable Intermodal Preferential Looking IPL: Investigating Language Comprehension in Typically Developing Toddlers and Young Children with Autism
Published on: December 14, 2012
18.5K
12:55Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties
Published on: September 27, 2020
8.4K
相关概念视频
Intellectual Disability
49
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
49
Learning Disabilities
99
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...
99
Information Processing Approach
33
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...
33
Wechsler's Contribution to Measures of Intelligence
1.5K
David Wechsler, a psychologist who worked with World War I veterans, developed a significant IQ test in 1939 called the Wechsler-Bellevue Intelligence Scale. This test was innovative because it combined several subtests that measured both verbal and nonverbal skills, reflecting Wechsler's belief that intelligence is a global capacity involving purposeful action, rational thinking, and effective interaction with the environment. This test later evolved into the Wechsler Adult Intelligence...
1.5K
Introduction to Developmental Psychology
237
Developmental psychology explores the changes and continuities in human abilities throughout life, encompassing physical, cognitive, linguistic, and social dimensions. Human development is not restricted to growth, but includes aspects of decline, particularly in physical abilities as individuals age. Developmental psychologists seek to understand how people change as they age and how their mental and social skills evolve.
Developmental Milestones
A key concept in developmental psychology is...
Developmental Milestones
A key concept in developmental psychology is...
237
Binet's Contribution to Measures of Intelligence
1.3K
Alfred Binet, along with his student Théophile Simon, was tasked by the French Ministry of Education in 1904 to create a method for identifying students who struggled to learn through conventional classroom instruction. This initiative aimed to address overcrowding by placing such students in specialized schools. Binet and Simon developed an intelligence test comprising 30 tasks, ranging from simple commands, like touching one's nose or ear, to more complex tasks, such as drawing...
1.3K
