TAKO-centre, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway.
BMC Med Genet. 2014 Apr 28;15:47. doi: 10.1186/1471-2350-15-47.
Treacher Collins syndrome (TCS, OMIM 154500) is a rare congenital disorder of craniofacial development. Characteristic hypoplastic malformations of the ears, zygomatic arch, mandible and pharynx have been described in detail. However, reports on the impact of these malformations on speech are few. Exploring speech features and investigating if speech function is related to phenotypic severity are essential for optimizing follow-up and treatment.
Articulation, nasal resonance, voice and intelligibility were examined in 19 individuals (5-74 years, median 34 years) divided into three groups comprising children 5-10 years (n = 4), adolescents 11-18 years (n = 4) and adults 29 years and older (n = 11). A speech composite score (0-6) was calculated to reflect the variability of speech deviations. TCS severity scores of phenotypic expression and total scores of Nordic Orofacial Test-Screening (NOT-S) measuring orofacial dysfunction were used in analyses of correlation with speech characteristics (speech composite scores).
Children and adolescents presented with significantly higher speech composite scores (median 4, range 1-6) than adults (median 1, range 0-5). Nearly all children and adolescents (6/8) displayed speech deviations of articulation, nasal resonance and voice, while only three adults were identified with multiple speech aberrations. The variability of speech dysfunction in TCS was exhibited by individual combinations of speech deviations in 13/19 participants. The speech composite scores correlated with TCS severity scores and NOT-S total scores. Speech composite scores higher than 4 were associated with cleft palate. The percent of intelligible words in connected speech was significantly lower in children and adolescents (median 77%, range 31-99) than in adults (98%, range 93-100). Intelligibility of speech among the children was markedly inconsistent and clearly affecting the understandability.
Multiple speech deviations were identified in children, adolescents and a subgroup of adults with TCS. Only children displayed markedly reduced intelligibility. Speech was significantly correlated with phenotypic severity of TCS and orofacial dysfunction. Follow-up and treatment of speech should still be focused on young patients, but some adults with TCS seem to require continuing speech and language pathology services.
特雷彻·柯林斯综合征（TCS，OMIM 154500）是一种罕见的颅面发育先天性疾病。耳朵、颧骨、下颌骨和咽的特征性发育不良已被详细描述。然而，关于这些畸形对言语的影响的报道很少。探索言语特征并调查言语功能是否与表型严重程度相关，对于优化随访和治疗至关重要。
对 19 名个体（5-74 岁，中位数 34 岁）进行了发音、鼻腔共鸣、语音和可理解度检查，这些个体分为三组：5-10 岁的儿童（n=4）、11-18 岁的青少年（n=4）和 29 岁及以上的成年人（n=11）。计算言语综合评分（0-6），以反映言语偏差的可变性。TCS 表型表达严重程度评分和诺德口腔测试筛查（NOT-S）总分用于分析与言语特征（言语综合评分）的相关性。
儿童和青少年的言语综合评分明显高于成年人（中位数 4，范围 1-6）（中位数 1，范围 0-5）。几乎所有的儿童和青少年（6/8）都表现出发音、鼻腔共鸣和语音的言语偏差，而只有 3 名成年人被确定有多种言语异常。19 名参与者中有 13 名表现出 TCS 言语障碍的个体组合。言语综合评分与 TCS 严重程度评分和 NOT-S 总分相关。评分高于 4 的言语综合评分与腭裂有关。儿童和青少年在连贯言语中的可理解单词百分比明显低于成年人（中位数 77%，范围 31-99%）（98%，范围 93-100%）。儿童的言语可理解性差异很大，明显影响理解能力。
TCS 患儿、青少年和部分成年患者存在多种言语异常。只有儿童的可理解性明显降低。言语与 TCS 的表型严重程度和口面功能障碍显著相关。对言语的随访和治疗仍应集中在年轻患者，但一些 TCS 成年患者似乎需要持续的言语和语言病理学服务。
