在CLN2和CLN3中,语音,语言和非语言沟通
Lottie D Morison1,2, Ineka T Whiteman3,4,5, Adam P Vogel2,6
1Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Journal of inherited metabolic disease
|January 17, 2025
概括
巴顿病 (CLN2和CLN3) 导致儿童逐渐丧失言语和语言技能. 早期的酶替代疗法 (ERT) 和量身定制的语言治疗可以改善这些罕见遗传疾病患者的结果.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 语音语言病理学 语言病理学
背景情况:
- 巴顿病,包括CLN2和CLN3疾病,代表了最常见的神经元状脂症的形式,以儿童痴呆为特征.
- 这些条件导致关键技能的逐步下降,包括言语,语言,食和非语言沟通.
研究的目的:
- 在被诊断患有CLN2或CLN3巴顿病的个体中划分特定的语音,语言,非语言沟通和养表型.
- 为了比较CLN2和CLN3亚型之间的疾病概况和进展.
主要方法:
- 在33名基因确认CLN2 (16) 或CLN3 (17) 疾病的个体中,发言,语言和食的表型特征.
- 分析疾病进展,早期酶替代疗法 (ERT) 的影响,以及CLN2和CLN3疾病队列之间的行为差异.
主要成果:
- 所有参与者,除了一个接受前症状ERT的参与者,都表现出语言障碍. 在老年人中,CLN2疾病呈现出统一的语言障碍和脱节症,进展到默症.
- CLN3疾病表现更加异质,早期发言障碍,包括脱发性关节障碍和神经性口吃. 与CLN2不同的是,在CLN3中表达性语言技能强于接受性技能,而不是CLN2.
- 在这两种疾病中都观察到语音,认知,语言和适应性行为逐渐下降. 预症状ERT和非典型的CLN2疾病与不太严重的损伤有关. 在CLN3疾病中,具有挑战性的行为更为普遍.
结论:
- CLN2和CLN3疾病表现出不同的语音和语言特征,需要量身定制的治疗干预措施.
- 患有巴顿病的人可以从专门的语言治疗,沟通伙伴培训,环境适应和非正式沟通行为支持中受益.
- 早期干预,包括前症状ERT,在减轻巴顿病的疾病严重程度和功能衰退方面显示出希望.
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