Dysphagia and nutrition problems in infants with apert syndrome.

OBJECTIVE: The purpose of this study was to identify and describe the nature of dysphagia and nutrition difficulties in infants with Apert syndrome.

DESIGN: The study comprised a review of the medical, nutrition, and feeding records of 13 consecutive infants still feeding by the bottle who had been referred to the Craniofacial Unit and analyses of swallow function from videofluoroscopic swallow investigations.

MAIN OUTCOME MEASURES: Outcome measures included qualitative analyses of bottle-feeding and nutritional status and quantitative functional severity ratings of dysphagia based on videofluoroscopic swallow investigations using the O'Neil et al. (1999) Dysphagia Outcome Severity Scale.

RESULTS: The main qualitative descriptors of oral feeding in this cohort included uncoordinated suck-swallow-breathe patterns, inability to maintain sucking bursts, and changes in respiratory patterns as the feed progressed. Videofluoroscopic evaluations (N = 7) showed silent laryngeal penetration or aspiration in more than half of the cohort. Failure to thrive was a frequent occurrence seen in seven infants, and 9 of the 10 required dietetic intervention and enteral supplements. (Nutritional records were not located for three infants.)

CONCLUSIONS: In view of the small sample size and retrospective nature of the study, the results need to be interpreted with caution. However, the study adds to current limited knowledge on feeding and nutrition in Apert syndrome. Further prospective multidisciplinary and objective research is clearly warranted.