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Medical Science Monitor Basic Research


Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization

Unusual setting of medical care, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Silmara Rondon-Melo, Isabel Junqueira de Almeida, Claudia Regina Furquim de Andrade, Fernanda Chiarion Sassi, Daniela Regina Molini-Avejonas

Brazil Department of Physiotherapy, Speech-Language and Hearing Sciences and Occupational Therapy, School of Medicine, University of São Paulo, São Paulo, SP, Brazil

Am J Case Rep 2017; 18:783-789

DOI: 10.12659/AJCR.903592

Available online:

Published: 2017-07-12


BACKGROUND: The body of literature on oral motor and swallowing disorders in patients with ataxia telangiectasia (AT) is limited.
CASE REPORT: The purpose of this study was to characterize oral motor and swallowing disorders in two siblings with AT, based on oral motor and swallowing assessments. Specific procedures were applied for oral motor and swallowing assessments and both patients underwent videofluoroscopy (VFS). Case 1 presented vocal instability, change in postural control during feeding; food retention in oral cavity; slower oral transit time; and multiple swallowing (signs for solid and liquid). Case 2 presented parted lips at rest and reduced muscle strength; reduced strength and mobility of the tongue; vocal weakness and instability; reduced speech precision and intelligibility; decreased intonation pattern; food retention in oral cavity during feeding; slower oral transit time; multiple swallowing (signs for solid and liquid); poor bolus ejection; incoordination and difficulty in controlling the sips of water taken from the cup; altered cervical auscultation after swallowing and respiratory distress (liquid and puree). For both patients VFS results revealed laryngeal penetration for liquid.
CONCLUSIONS: Although the literature describes the occurrence of dysarthria and swallowing disorders in patients with AT, little attention has been given to describing which oral motor deficits are responsible for these disorders. Early identification of swallowing alterations and rehabilitation could decrease the risk of aspiration pneumonia. Future studies are necessary in order to investigate the deterioration process of swallowing in AT and the influence of rehabilitation in maintaining functional health.

Keywords: Ataxia Telangiectasia, Deglutition Disorders, Outcome and Process Assessment (Health Care), Speech Disorders, voice disorders