Institute of Physiology (IN:spired; Developmental Physiology and Developmental Neuroscience), Centre for Physiological Medicine, Medical University of Graz, Harrachgasse 21 ⁄ 5,Graz, Austria.
Dev Med Child Neurol. 2012 May;54(5):451-6. doi: 10.1111/j.1469-8749.2012.04123.x. Epub 2012 Feb 21.
Our aim was to contribute new findings related to the pre-regressional verbal development of females with a variant of Rett syndrome (RTT) as the loss of spoken language is one of the key clinical features of RTT, and it would be of particular interest to study the early speech-language development of females who are considered to have preserved some speech-language abilities.
We analysed 461 minutes of audio-video recordings containing play situations and the daily routines of six females (aged 7 to 24 months; mean birthweight 3057g, SD 195g) with the preserved speech variant (PSV) of RTT. All videos were recorded by parents and analysed retrospectively after the diagnosis PSV was made.
From the age of 7 months onwards, we observed two types of vocalizations, appearing intermittently: (1) apparently normal sequences; and (2) atypical (i.e. inhalatory, pressed, or high-pitched crying-like) vocalizations. Some participants failed to reach the milestone of canonical babbling. We observed a limited phonological and lexical complexity and a restricted compositional variability. Volubility was reduced during the whole period under observation. Hand stereotypies with simultaneous atypical vocalizations appeared only during the second year of life.
The intermittent character of normal versus abnormal verbal behaviours might contribute to an early identification of children with a possible genetic mutation, and provides evidence that speech-language functions are abnormal from the very beginning.
我们的目的是提供与雷特综合征（RTT）变异型女性的前回归言语发展相关的新发现，因为言语丧失是 RTT 的关键临床特征之一，研究被认为保留了一些言语能力的女性的早期言语发展将具有特殊意义。
我们分析了 6 名女性（年龄 7 至 24 个月；平均出生体重 3057g，SD 195g）的 461 分钟音频-视频记录，这些女性具有保留言语变异型（PSV）的 RTT。所有视频均由父母录制，并在诊断为 PSV 后进行回顾性分析。
从 7 个月大开始，我们观察到两种间歇性出现的发声类型：（1）明显正常的序列；和（2）非典型（即吸入性、按压性或高音调的哭泣样）发声。一些参与者未能达到典型咿呀学语的里程碑。我们观察到语音和词汇复杂性有限，以及组合变异性受限。在整个观察期间，言语流畅性降低。只有在生命的第二年才出现伴有非典型发声的手部刻板行为。
正常与异常言语行为的间歇性特征可能有助于早期识别可能存在基因突变的儿童，并提供证据表明言语功能从一开始就异常。
