Massi Giselle, França Dayane Roberta de, Santos Rosane Sampaio, Ribas Angela, Fonseca Vinícios Duarte, Guarinello Ana Cristina, Ziesemer Nadine de Biagi
Master of the Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná. Curitiba, PR, Brazil.
Speech Language Pathologist, Universidade Tuiuti do Paraná - UT, Curitiba, PR, Brazil.
Int Tinnitus J. 2016 Jul 22;20(1):31-5. doi: 10.5935/0946-5448.20160006.
Treacher Collins syndrome (TCS) is a rare disorder with different levels of severity due to congenital head and face abnormalities which affect language, orofacial musculature, voice and breadth, suction, chewing and swallowing functions.
This paper objectifies to report a Treacher Collins syndrome patient, describing phonoaudiological changes that can be found in individuals suffering from this syndrome.
METHODS & PROCEDURES: The study was carried out with a male child at a teaching Speech Language Pathology clinic in Southern Brazil. The patient underwent audiological assessment, as well as orofacial motricity, swallowing, voice and speech assessments.
OUTCOMES & RESULTS: By means of the assessments, it was possible to perceive that the patient presents moderate hearing loss, inadequacy of phonoarticulatory organs, base of the tongue going backwards and epiglottis collapse over the larynx. In spite of evidencing significant difficulty in producing speech sounds, due to musculoskeletal changes, he effectively interacts in communicative situations, besides understanding sentences and narrated stories.
CONCLUSIONS & IMPLICATIONS: The screened case report evidences that an interdisciplinary follow-up is indispensable for this patient suffering from Treacher Collins syndrome, which implies not only speech language therapeutic follow-up, but also in ear, nose and throat and orthodontics areas.
特雷彻·柯林斯综合征（TCS）是一种罕见的疾病，由于先天性头面部异常导致严重程度不同，这些异常会影响语言、口面部肌肉组织、语音和呼吸、吮吸、咀嚼及吞咽功能。
本文旨在报告一名特雷彻·柯林斯综合征患者，描述该综合征患者可能出现的听力学变化。
该研究在巴西南部一家教学性言语语言病理学诊所对一名男童进行。患者接受了听力学评估，以及口面部运动功能、吞咽、语音和言语评估。
通过评估发现，该患者存在中度听力损失、语音发音器官功能不全、舌根后移以及会厌塌陷至喉部上方。尽管由于肌肉骨骼变化，患者在发出语音时存在明显困难，但他除了能理解句子和叙述的故事外，还能在交流情境中有效互动。
该病例报告表明，对于这名患有特雷彻·柯林斯综合征的患者，跨学科随访必不可少，这不仅意味着言语语言治疗随访，还涉及耳鼻喉科和正畸领域。
