患有CLN2疾病的患者的语言延迟:它能支持早期诊断吗?
Miriam Nickel1, Paul Gissen2, Rebecca Greenaway3
1Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Neuropediatrics
|June 17, 2023
概括
神经神经状脂症类型2 (CLN2疾病) 可能导致神经退行迅速. 早期语言延迟,不仅仅是发作,可能是CLN2疾病的信号,使得早期治疗和减少衰退.
科学领域:
- 儿科神经学 儿科神经学
- 罕见的遗传疾病 罕见的遗传疾病
- 神经退行性疾病 神经退行性疾病
背景情况:
- 神经神经状脂症2型 (CLN2疾病) 是一种罕见的儿科神经退行性疾病.
- 早期的症状往往是不特定的,延迟了诊断和治疗.
- 经批准的酶替代疗法 (阿尔法糖酶) 可以减缓神经系统衰退.
研究的目的:
- 在临床实践中检查CLN2疾病对语言发育的影响.
- 确定早期的语言缺陷作为CLN2疾病的潜在指标.
- 改善早期诊断和管理CLN2疾病.
主要方法:
- 专家对临床实践和患者经验的审查.
- 对CLN2疾病患者语言发育里程碑的分析.
- 讨论识别早期语言缺陷所面临的挑战.
主要成果:
- 语言停滞,延迟的第一句话和延迟的句子使用是CLN2疾病相关的语言缺陷的关键特征.
- 语言延迟可能是CLN2疾病的早期指标,而不是发作.
- 挑战包括评估复杂的需求和认识到发育的变化.
结论:
- 在语言延迟和/或发作的儿童中,应考虑CLN2疾病.
- 早期识别语言缺陷可以促进及时诊断和治疗.
- 及时管理可以显著降低CLN2疾病的发病率.
相关概念视频
01:22Language Development
404
Children master language quickly and with relative ease, supported by both biological predisposition and reinforcement. B. F. Skinner (1957) proposed that language is learned through reinforcement, while Noam Chomsky (1965) argued that language acquisition mechanisms are biologically determined.
The critical period for language acquisition suggests that the ability to acquire language is at its peak early in life. As people age, this proficiency decreases. Language development begins very...
The critical period for language acquisition suggests that the ability to acquire language is at its peak early in life. As people age, this proficiency decreases. Language development begins very...
404
01:27Language and Cognition
378
Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.
378