Moura Carla Pinto, Cunha Luís Miguel, Vilarinho Helena, Cunha Maria João, Freitas Diamantino, Palha Miguel, Pueschel Siegfried M, Pais-Clemente M
Department of Otolaryngology, Hospital São João, Porto Medical School, Porto University, Porto, Portugal.
J Voice. 2008 Jan;22(1):34-42. doi: 10.1016/j.jvoice.2006.08.011. Epub 2006 Oct 2.
Down syndrome (DS) is the most frequent chromosomal disorder. Commonly, individuals with DS have difficulties with speech and show an unusual quality in the voice. Their phenotypic characteristics include general hypotonia and maxillary hypoplasia with relative macroglossia, and these contribute to particular acoustic alterations. Subjective perceptual and acoustic assessments of the voice (Praat-4.1 software) were performed in 66 children with DS, 36 boys and 30 girls, aged 3 to 8 years. These data were compared with those of an age-matched group of children from the general population. Perceptual evaluations showed significant differences in the group of children with DS. The voice of children with DS presented a lower fundamental frequency (F(0)) with elevated dispersion. The conjunction of frequencies for formants (F(1) and F(2)) revealed a decreased distinction between the vowels, reflecting the loss of articulatory processing. The DS vocalic anatomical functional ratio represents the main distinctive parameter between the two groups studied, and it may be useful in conducting assessments.
唐氏综合征（DS）是最常见的染色体疾病。通常，患有唐氏综合征的个体存在言语困难，且嗓音具有异常特质。他们的表型特征包括全身肌张力减退、上颌骨发育不全并伴有相对的巨舌症，这些因素导致了特定的声学改变。对66名年龄在3至8岁的唐氏综合征儿童（36名男孩和30名女孩）进行了嗓音的主观感知和声学评估（Praat - 4.1软件）。将这些数据与来自普通人群的年龄匹配儿童组的数据进行了比较。感知评估显示唐氏综合征儿童组存在显著差异。唐氏综合征儿童的嗓音呈现出较低的基频（F(0)）且离散度升高。共振峰频率（F(1)和F(2)）的结合显示元音之间的区别减小，反映出语音处理能力的丧失。唐氏综合征嗓音解剖功能比率是所研究的两组之间的主要区别参数，它可能有助于进行评估。
