Speech language pathology findings in a Treacher Collins syndrome patient.

Autor:	Massi G; Master of the Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná. Curitiba, PR, Brazil., França DR; Speech Language Pathologist, Universidade Tuiuti do Paraná - UT, Curitiba, PR, Brazil., Santos RS; Master of the Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná. Curitiba, PR, Brazil., Ribas A; Master of the Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná. Curitiba, PR, Brazil., Fonseca VD; Otolaryngologist. Master of the Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná - UTP, Curitiba, PR, Brazil., Guarinello AC; Master of the Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná. Curitiba, PR, Brazil., Ziesemer Nde B; Nurse. Doctoral student of Graduate Program in Communication Disorders at Universidade Tuiuti do Paraná - UTP and Instituto Federal do Paraná - IFPR, Curitiba, PR, Brazil.
Jazyk:	angličtina
Zdroj:	The international tinnitus journal [Int Tinnitus J] 2016 Jul 22; Vol. 20 (1), pp. 31-5. Date of Electronic Publication: 2016 Jul 22.
DOI:	10.5935/0946-5448.20160006
Abstrakt:	Background: 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. Aims: 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.
Databáze:	MEDLINE
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