Mastication Problems and Dysphagia In 4 Patients with Treacher Collins Syndrome Due to Affected Orofacial Muscles

C. Erasmus, L. V. Haaften, L. Engel-Hoek, M. Lagarde, M. V. Gerven, R. Admiraal
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Abstract

Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development affecting 1 in 50 000 live births. The spectrum of the clinical features is wide ranging from mild to severe anatomical deviances, affecting breathing, mastication, swallowing, facial expression, hearing and speech. The aim of this study was to describe the experienced feeding and swallowing problems and to study the related orofacial muscles in four patients with Treacher Collins Syndrome (TCS), in order to increase important knowledge concerning mastication and swallowing problems in children with TCS. Four children with TCS were evaluated with a clinical feeding and swallowing assessment. In addition, quantitative muscle ultrasound of orofacial muscles was performed. The mastication problems and dysphagia are due to a range of problems. Orofacial muscles were hypoplastic with a deviant structure influencing strength. We recommend a regularly assessment with special attention to mastication, intake and growth. Training (maintain chewing) and compensation (adequate intake) should be advised.
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口面肌受累致Treacher Collins综合征咀嚼障碍及吞咽困难4例
Treacher Collins综合征(TCS)是一种罕见的颅面发育先天性疾病,每5万例活产婴儿中就有1例患病。临床特征的范围很广,从轻微到严重的解剖畸形,影响呼吸、咀嚼、吞咽、面部表情、听力和语言。本研究的目的是描述4例Treacher Collins综合征(TCS)患者的进食和吞咽问题,并对相关的口面部肌肉进行研究,以增加对TCS患儿咀嚼和吞咽问题的重要认识。对4例TCS患儿进行临床喂养和吞咽评估。同时进行口面部肌肉定量超声检查。咀嚼问题和吞咽困难是由一系列问题引起的。口面肌发育不全,结构异常影响肌力。我们建议定期评估,特别关注咀嚼,摄入和生长。应该建议训练(保持咀嚼)和补偿(足够的摄入量)。
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