Patients with congenital craniofacial malformations frequently exhibit structural abnormalities of the ear, mandible, facial muscles, nerves, and salivary glands, thus impacting feeding and swallowing. As few studies have investigated those issues in patients with Oculo-Auriculo-Vertebral Spectrum (OAVS), the aim of the present study has been to retrospectively investigate the presence of swallowing and feeding difficulties in this specific population. In this study patients with OAVS, including Goldenhar Syndrome, and presenting with ear malformations were included. Clinical data were collected, and patients or their parents were asked to fill a specifically developed questionnaire about craniofacial abnormalities, feeding and swallowing issues. Data from 50 patients were collected. Feeding difficulties were reported by 28% of the cases, with a higher prevalence (44%) among those with a more complex phenotype. Only a few patients had undergone rehabilitation to support feeding or swallowing. The study supported the hypothesis that feeding and swallowing issues were quite common in patients with ear malformations. Although reports involving larger cohorts are still lacking, clinical attention is particularly recommended for patients with involvement of multiple structures.
Retrospective Investigation on Swallowing and Feeding Difficulties in Patients With Oculo-Auriculo-Vertebral-Spectrum
Davide Brotto;Anna Agostinelli
;Giorgia Saia;Gino Marioni;Silvia Montino;Patrizia Trevisi
2025
Abstract
Patients with congenital craniofacial malformations frequently exhibit structural abnormalities of the ear, mandible, facial muscles, nerves, and salivary glands, thus impacting feeding and swallowing. As few studies have investigated those issues in patients with Oculo-Auriculo-Vertebral Spectrum (OAVS), the aim of the present study has been to retrospectively investigate the presence of swallowing and feeding difficulties in this specific population. In this study patients with OAVS, including Goldenhar Syndrome, and presenting with ear malformations were included. Clinical data were collected, and patients or their parents were asked to fill a specifically developed questionnaire about craniofacial abnormalities, feeding and swallowing issues. Data from 50 patients were collected. Feeding difficulties were reported by 28% of the cases, with a higher prevalence (44%) among those with a more complex phenotype. Only a few patients had undergone rehabilitation to support feeding or swallowing. The study supported the hypothesis that feeding and swallowing issues were quite common in patients with ear malformations. Although reports involving larger cohorts are still lacking, clinical attention is particularly recommended for patients with involvement of multiple structures.Pubblicazioni consigliate
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