Authors: Neil R. Ming, Deanna Noble, Steven Chussid, Alban Ziegler, Wendy K. Chung
Publication Date: July 4, 2023
Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern
Research Explained Summary:
This study surveyed a wide variety of patients with neurodevelopmental disorders through an online questionnaire through Simons Searchlight, a natural history study supported by the Simons Foundation. The study records data from medical records and captures caregiver responses about patients with neurodevelopmental disorders, including OCNDS. Oral health is an important area of study, as many individuals with neurodevelopmental disorders have poor oral hygiene and broader dental abnormalities.
620 caregiver responses to the survey were recorded across 39 genetic neurodevelopmental disorders, with most surveys completed on behalf of children. 145 siblings of these patients without neurodevelopmental disorders served as a group to compare any findings against. Overall, the patients with neurodevelopmental disorders were found to display increased drooling, difficulty receiving dental care, late arrival of baby teeth, and abnormal growth of both baby and permanent teeth.
Among the 39 genetic disorders tested, only patients in four groups, including OCNDS, were found to be more likely to have any specific dental issues when compared to the sibling control group. Of note, OCNDS was found to be associated with an increase in anomalies found in baby teeth, including long incisors, cracked teeth, missing enamel, small teeth, and fused teeth. Importantly, this is the first time that OCNDS has been associated with abnormal tooth development, indicating a potentially unmet need for improved dental care and surveillance in OCNDS patients.
We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.
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