在DDX3X神经发育障碍中的语音和语言:呼吁早期增强和替代沟通干预
Elana J Forbes1,2, Lottie D Morison1, Fatma Lelik1
1Speech & Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
概括
在DDX3X基因的致病变体导致神经发育障碍,严重的言语和语言障碍. 接受性语言技能比表达性更强,许多人从增强性和替代性沟通 (AAC) 中受益.
科学领域:
- 遗传学和神经发育的研究
- 语音和语言病理学 语言病理学
背景情况:
- DDX3X基因中的致病变体与神经发育障碍有关.
- 经常观察到沟通障碍,但具体的语音和语言特征仍然未被确定.
- 缺乏详细的表征阻碍了对DDX3X相关疾病的预后咨询和有针对性的治疗干预.
研究的目的:
- 在具有致病DDX3X变异的个体中描述特定的语音和语言表型.
- 确定沟通中的潜在优点和弱点,以告知临床管理.
- 评估增强型和替代性沟通 (AAC) 在这一群体中的作用.
主要方法:
- 语音,语言,运动,社会和适应性行为评估对38名患有致病DDX3X变体的女性进行了评估.
- 参与者的年龄从1.69到24.34岁不等.
- 变体类型包括误解,无意义,位,拼接位置,同义词和删除.
主要成果:
- 所有参与者都在婴儿期表现出毛发动机缺陷,细发动机缺陷普遍存在.
- 在4岁以上的参与者中,86%的人报告有智力障碍.
- 观察到表达,接受和社交沟通的严重障碍,接受语言是相对较强的. 66%是最小的口头,经常使用AAC. 25%的人患有童年语音不适症. 社会动机是一个显著的优势.
结论:
- DDX3X变种与广泛的严重言语和语言障碍相关,包括儿童语言不适.
- 接受性语言技能往往比表达能力更强大,而社会动机是关键的优势.
- 对患有DDX3X相关疾病的人来说,早期全面实施增强型和替代性沟通 (AAC) 是至关重要的.
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