Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia

• Published in: The Journal of pediatrics 2000-02, Vol.136 (2), p.225-231
• Main Authors: Lefton-Greif, Maureen A., Crawford, Thomas O., Winkelstein, Jerry A., Loughlin, Gerald M., Koerner, Celide B., Zahurak, Marianna, Lederman, Howard M.
• Format: Article
• Language: English
• Subjects: Age Factors; Ataxia Telangiectasia - complications; Ataxia Telangiectasia - physiopathology; Biological and medical sciences; Child; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); Cough - etiology; Deglutition - physiology; Deglutition Disorders - etiology; Deglutition Disorders - physiopathology; Female; Humans; Male; Medical genetics; Medical sciences; Nutritional Status; Pneumonia, Aspiration - etiology; Videotape Recording
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(00)70106-5

Objectives: To determine whether patients with ataxia-telangiectasia exhibit oropharyngeal dysphagia with concomitant aspiration and to examine the relationships among swallowing function, age, and nutritional status. Study design: Seventy patients (mean age, 10.7 years; range, 1.8 to 30 years) had feeding/swallowing and nutritional evaluations. Fifty-one patients, in whom there were concerns about swallowing safety, were examined with a standardized videofluoroscopic swallow study. Results: Fourteen of the 51 patients (27%) with histories suggestive of dysphagia demonstrated aspiration. Of these, silent aspiration (aspiration without a cough) occurred in 10 (71%) patients. Aspirators were significantly older than non-aspirators (mean age, 16.9 vs 10.8 years; P = .002). Advancing age was the strongest factor associated with aspiration during continuous drinking ( P = .01). In patients with ataxia-telangiectasia, weight and weight/height were abnormally low at all ages and most compromised in older patients. Patients who aspirated had significantly lower mean weight ( P < .002) and weight/height z scores ( P < .001) than did patients who did not aspirate. Conclusions: Oropharyngeal dysphagia is common and appears to be progressive in patients with ataxia-telangiectasia. Older patients also have a higher incidence of poorer nutritional status. The relationship between dysphagia and nutritional status deserves further investigation. (J Pediatr 2000;136:225-31)