Ball Laura J, Chavez Stephen, Perez Geovanny, Bharucha-Goebel Diana, Smart Kathleen, Kundrat Katherine, Carruthers Lauren, Brady Caitlin, Leach Meganne, Evans Sally
Center for Translational Science, Children's National Health System , Washington DC, USA.
Department of Physical Medicine and Rehabilitation, Children's National Health System , Washington DC, USA.
Assist Technol. 2021 Jan 2;33(1):38-48. doi: 10.1080/10400435.2019.1586788. Epub 2019 Apr 4.
Spinal muscular atrophy is one of the most common fatal autosomal recessive disorders. Children diagnosed with SMA Type 1 (SMAT1) demonstrate severe oral motor weakness and flaccid dysarthria progressing to complete anarthria. A review of literature illustrates that little has been described regarding augmentative and alternative communication (AAC) use among these children, although communication has a critical impact on quality of life and participation in daily activities. Responses to an investigator-developed parent survey were obtained to appraise communication skills and opportunities among children diagnosed with SMA1. Results illustrate parent perception of greater receptive than expressive language ability and highlight the benefits of implementing speech-generating devices (SGD). Barriers to SGD acquisition and implementation, including access and funding, are reported and described. Overall, families indicated that SGD increases quality of life and provides valued improvements through expanded functional communication.
脊髓性肌萎缩症是最常见的致命常染色体隐性疾病之一。被诊断为1型脊髓性肌萎缩症(SMAT1)的儿童表现出严重的口腔运动无力和弛缓性构音障碍,最终发展为完全性构音障碍。文献综述表明,尽管沟通对这些儿童的生活质量和参与日常活动有着至关重要的影响,但关于这些儿童使用辅助和替代沟通(AAC)的描述却很少。通过对研究者设计的家长调查问卷的回复,来评估被诊断为SMA1的儿童的沟通技能和机会。结果表明家长认为儿童的接受性语言能力强于表达性语言能力,并强调了使用言语生成设备(SGD)的好处。报告并描述了获取和使用SGD的障碍,包括获取途径和资金问题。总体而言,家庭表示SGD提高了生活质量,并通过扩大功能性沟通带来了有价值的改善。