Orofacial functions and oral health associated with Treacher Collins syndrome

Abstract

Objective. The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition. Materials and methods. The Nordic Orofacial Test-Screening (NOT-S), MHC Questionnaire, MHC Observation chart and clinical examinations of nasal and pharyngeal conditions and chewing and swallowing function were used to assess 19 individuals aged 5–74 years (median 34 years). TCS severity scores were calculated by a clinical geneticist. Results. Orofacial features characterizing the study group were altered profile, increased mandibular angle, narrow hypopharynx and facial asymmetry. Basic orofacial functions such as breathing, eating, facial expression and speech were affected in all subjects demonstrating orofacial dysfunction in at least two NOT-S domains (median NOT-S total score 4/12, range 2–7). Significant correlation was found between the TCS severity scores reflecting phenotypic expression and the NOT-S total scores reflecting orofacial function. Self-reported experience of dry oral mucosa was common. Overall, dental health was good with few carious lesions diagnosed, but considerable need for orthodontic treatment was documented. Conclusions. Altered orofacial features and functions in TCS are common and often persist into late adolescence and adulthood. The functional level was correlated with the phenotypic variability of the condition. The standard of oral health was satisfactory. The findings indicated that individuals with TCS are likely to require lifelong health services related to their oral condition.

Key Words::

• craniofacial disorder
• dental care
• NOT-S
• orofacial feature
• phenotype

Acknowledgements

The authors would like to thank the Norwegian Craniofacial Association for assistance with distribution of invitations for participation in the study and those who agreed to participate and share their experiences. The authors acknowledge Kjerstin Greve-Løberg for valuable assistance with the NOT-S assessments and Kirsten Howells for assistance with linguistic revision.

Declaration of interest: The authors report no conflicts of interest. The authors are responsible for the content and writing of the paper.