Department of Molecular Pharmacology and Physiology, Morsani College of Medicine, University of South Florida, Tampa, FL, USA.
Department of Communication Sciences and Disorders, University of South Florida, Tampa, FL, USA.
J Appl Res Intellect Disabil. 2018 Jan;31(1):e49-e58. doi: 10.1111/jar.12305. Epub 2016 Dec 19.
Angelman syndrome is a rare disorder in which most individuals do not develop speech. Testing of communication ability using traditional neuropsychological measures reveals a performance level at or near the floor of the instrument resulting in an inability to detect change when experimental therapeutics are applied.
Nine individuals, with molecularly confirmed AS, ranging in age from 34 to 126 months, and a single healthy control child (age 16 months) were audio and video-recorded while interacting with a licensed speech-language pathologist in an attempt to elicit vocalization and non-verbal communication. Thirty-minute audio recordings were transcribed and categorized per the Stark Assessment of Early Vocal Development-Revised and a phonetic inventory was created. Using video recordings, gestures were classified by function, either behavioral regulation or social interaction and further categorized as deictic or representational (i.e., behavioral regulation) and joint attention or shared engagement (i.e., social interaction).
The range of vocalizations produced by the children with AS was characteristic of children between 0-6 months and none of the children with AS used advanced forms of vocalizations. The mean frequency of reflexive vocalizations, control of phonation and expansion far exceeded the number of uses of canonical syllables, consistant with the characteristics of children around 12 months of age. Most vocalizations were either laughter or isolated vowels, only three children with AS produced consonant-vowel combinations. Children with AS tended to use central and low vowels with few producing high vowels, suggesting the presence of childhood apraxia of speech.
Our results show the utilization of video-recorded behavioral observations provides a feasible and reliable alternative for quantification of communication ability in this patient population and may be employed during future clinical studies of potential therapeutics.
Angelman 综合征是一种罕见的疾病，大多数患者都无法说话。使用传统的神经心理学测试来测试沟通能力，结果显示其表现水平处于或接近测试工具的下限，以至于当应用实验性治疗时，无法检测到变化。
9 名个体（年龄在 34 至 126 个月之间）和 1 名健康对照儿童（年龄 16 个月）接受了分子确诊的 AS，他们与持照言语语言病理学家进行了音频和视频记录，试图引起发声和非言语交流。30 分钟的音频记录按 Stark 早期发声发展修订评估标准进行转录和分类，并创建了一个语音清单。使用视频记录，根据功能对手势进行分类，分为行为调节或社会互动，并进一步分为指示性或代表性（即行为调节）和共同注意或共同参与（即社会互动）。
AS 儿童产生的发声范围与 0-6 个月的儿童相似，并且没有儿童使用高级形式的发声。反射性发声、发声控制和扩展的平均频率远远超过了规范音节的使用次数，与 12 个月左右儿童的特征一致。大多数发声要么是笑声，要么是孤立的元音，只有 3 名 AS 儿童发出了辅音元音组合。AS 儿童往往使用中央和低元音，很少使用高元音，这表明他们存在儿童言语运动性失用症。
我们的结果表明，使用视频记录的行为观察为该患者群体的沟通能力量化提供了一种可行且可靠的替代方法，并且可能在未来的潜在治疗方法的临床研究中使用。
