Clinical Observation of Oral-Motor Dysfunction in Joubert Syndrome: Case Series

Authors

Müberra Tanrıverdi, Bezmialem Vakıf UniversityFollow
Gökhan Can Törpü, Bezmialem Vakıf UniversityFollow

Abstract

Purpose: Joubert Syndrome (JS) is a rare autosomal recessive neurological disorder, characterized by hypotonia, ataxia, tremor, developmental delay. JS also presents with respiratory abnormalities, oculomotor apraxia, motor speech dysarthria, and various atypical dysmorphic features. Oral-motor dysfunction (OMD) is a notable concern in JS, manifesting as difficulties with sucking, swallowing, drooling, and prolonged meal times. Methods: This study investigates OMD in five JS cases evaluated by physiotherapists and assessed using the Oral-Motor Examination Tool (OMET). Results: The cases exhibited feeding-related stress symptoms such as gagging and reflux. OMET evaluations identified asymmetrical faces, puckered lips, open mouths, and lip biting, with normal palate structure and muscle tone. Slight lip withdrawal and moderate saliva were observed in two cases, while small tongue and soft palate asymmetry were found in three. Conclusion: These findings indicate that OMD is prevalent in JS, highlighting the need for early evaluation for patients exhibiting dysmorphic facial features.

Author Bio(s)

Müberra Tanrıverdi, PT, PhD, Associate Professor, is a licensed physiotherapist and associate professor in Department of Physiotherapy and Rehabilitation, Faculty of Health Sciences, Bezmialem Vakıf University.

Gökhan Can Törpü, PT, PhD(c), is a licensed physiotherapist and PhD student in Department of Cardiopulmonary Physiotherapy and Rehabilitation, Institute of Health Sciences, Bezmialem Vakıf University.

Acknowledgements

None.

Recommended Citation

Tanrıverdi M, Törpü GC. Clinical Observation of Oral-Motor Dysfunction in Joubert Syndrome: Case Series. The Internet Journal of Allied Health Sciences and Practice. 2025 Jul 28;23(3), Article 24.