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Temporomandibular Dysfunction and Sleep Apnea in Dutch Adults With Osteogenesis Imperfecta
L Blokland1,2, E de Kuijper-Timmermans1,3, M de Kuijper4
1Vogellanden Center of Rehabilitation Medicine & Special Care in Dentistry, Zwolle, the Netherlands.
Oral Diseases
|March 4, 2025
Summary
Adults with Osteogenesis Imperfecta (OI) frequently experience temporomandibular disorders and mandibular dysfunction. Osteogenesis Imperfecta type III patients face higher risks for these conditions and obstructive sleep apnea.
Area of Science:
- Medical Research
- Genetics
- Sleep Medicine
Background:
- Osteogenesis Imperfecta (OI) is a rare genetic disorder characterized by brittle bones.
- Comorbidities like temporomandibular disorders (TMD) and obstructive sleep apnea (OSA) are increasingly recognized in OI populations.
- Understanding the prevalence and risk factors for these conditions in adults with OI is crucial for comprehensive care.
Purpose of the Study:
- To investigate the prevalence of self-reported symptoms of TMD, mandibular functional impairment, and OSA in Dutch adults with OI.
- To identify potential risk factors associated with these conditions within the OI population.
Main Methods:
- A cross-sectional online survey was administered to Dutch adults diagnosed with Osteogenesis Imperfecta.
- Validated questionnaires were used to assess TMD symptoms (3Q/TMD; DC/TMD), mandibular function impairment (Mandibular Function Impairment Questionnaire), and OSA risk (STOP-Bang).
- Univariate and multiple regression analyses were employed to explore associations between risk factors and outcomes.
Main Results:
- 31% of 155 respondents reported TMD symptoms. Moderate and severe mandibular function impairment were reported by 40.0% and 5.2%, respectively.
- 16.1% and 14.8% reported intermediate and severe risk for OSA, respectively.
- Female gender and OI type III were linked to TMD. OI type III, missing teeth, and TMD were associated with impaired mandibular function. Higher age, male gender, and bisphosphonate use correlated with higher OSA risk.
Conclusions:
- A significant portion of Dutch adults with Osteogenesis Imperfecta exhibit symptoms of TMD, mandibular dysfunction, and an elevated risk for OSA.
- Patients with Osteogenesis Imperfecta type III are particularly vulnerable to self-reported TMD and compromised mandibular function.
- These findings highlight the need for targeted screening and management of TMD and OSA in adults with OI.

