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Adapting Human Videofluoroscopic Swallow Study Methods to Detect and Characterize Dysphagia in Murine Disease Models
08:32

Adapting Human Videofluoroscopic Swallow Study Methods to Detect and Characterize Dysphagia in Murine Disease Models

Published on: March 1, 2015

Dysphagia and nutrition problems in infants with apert syndrome

Valerie Pereira1, Paul Sacher, Martina Ryan

  • 1North Thames Regional Cleft Service, London, UK. Pereiv@gosh.nhs.uk

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|August 1, 2009
PubMed

Insights

Infants with Apert syndrome often experience dysphagia (swallowing difficulties) and nutrition problems, including feeding issues and failure to thrive, requiring intervention. Further research is needed to understand these challenges better.

Area of Science:

  • Pediatric Medicine
  • Genetics
  • Nutrition Science

Background:

  • Apert syndrome is a rare genetic disorder characterized by craniosynostosis and distinctive facial features.
  • Feeding and swallowing difficulties are common in infants with craniofacial anomalies, but specific challenges in Apert syndrome are not well-documented.

Purpose of the Study:

  • To identify and describe the nature of dysphagia (swallowing difficulties) and nutrition difficulties in infants with Apert syndrome.
  • To analyze feeding patterns and nutritional status in this specific cohort.

Main Methods:

  • Retrospective review of medical, nutrition, and feeding records of 13 bottle-feeding infants with Apert syndrome.
  • Videofluoroscopic swallow investigations (VFSS) were used to analyze swallow function.
  • Dysphagia severity was quantitatively rated using the Dysphagia Outcome Severity Scale.

Main Results:

  • Qualitative feeding issues included uncoordinated suck-swallow-breathe patterns and altered respiratory patterns.
  • VFSS revealed silent laryngeal penetration or aspiration in over half of the infants.
  • Failure to thrive occurred in seven infants, with 9 out of 10 requiring dietetic intervention and enteral supplements.

Conclusions:

  • The study highlights significant feeding and nutrition challenges in infants with Apert syndrome.
  • Findings suggest a need for early and multidisciplinary intervention for dysphagia and nutritional support.
  • Further prospective research is warranted to confirm and expand upon these findings.
Abstract

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