Dental Manifestations in Individuals With Genetic Neurodevelopmental Disorders

Objectives: Individuals with neurodevelopmental disorders often have poor oral health and dental abnormalities. An increasing number of genes have been associated with neurodevelopmental conditions affecting the oral cavity, but the specific dental features associated with many genes remain unknown. Our objective in this project was to report the types and frequencies of dental manifestations in individuals with neurodevelopmental conditions of known genetic cause.
Methods: A 30 question survey was administered through Simon’s Searchlight, a recontactable cohort of individuals with genetic neurodevelopmental disorders often associated with autism spectrum disorder. The questionnaire assessed ectodermal and dental features.
Results: Data were collected from 620 affected individuals (526 children, 94 adults) across 39 genetic conditions and 145 unaffected siblings (144 children, 1 adult) without neurodevelopmental disorders for comparison. Hypersalivation, difficulty accessing dental care, late deciduous teeth eruption, abnormal deciduous and permanent teeth formation, misshapen nails, and hair loss were more frequent in individuals with NDDs. Additionally, the survey confirmed the previously reported early deciduous eruption associated with pathogenic variants in ADNP. Unusual primary teeth were frequent in individuals with pathogenic variants in CSNK2A1. Pathogenic variants in DYRK1A were shown to be associated with late primary tooth eruption. Additionally, a high prevalence of drooling was found in individuals with PPP2R5D-related neurodevelopmental disorder.
Conclusions: Our results demonstrate that some genetic neurodevelopmental disorders have unique dental manifestations, and knowledge of these features can be helpful to personalize dental care.