Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert Debré, Paris, France.
Centre de Reference, Maladies Orales et Dentaires Rares, Hôpital Rothschild, APHP, Paris, France.
Orphanet J Rare Dis. 2022 Aug 20;17(1):317. doi: 10.1186/s13023-022-02467-7.
Around 8000 rare diseases are currently defined. In the context of individual vulnerability and more specifically the one induced by rare diseases, ensuring oral health is a particularly important issue. The objective of the study is to evaluate the pattern of oral health care course for patients with any rare genetic disease. Description of oral phenotypic signs-which predict a theoretical dental health care course-and effective orientation into an oral healthcare were evaluated.
We set up a retrospective cohort study to describe the consideration of patient oral health and potential orientation to an oral health care course who have at least been seen once between 1 January 2017 and 1 January 2020 in Necker Enfants Malades Hospital. We recruited patients from this study using the data warehouse, Dr Warehouse® (DrWH), from Necker-Enfants Malades Hospital.
The study sample included 39 rare diseases, 2712 patients, with 54.7% girls and 45.3% boys. In the sample studied, 27.9% of patients had an acquisition delay or a pervasive developmental disorder. Among the patient files studied, oral and dental phenotypic signs were described for 18.40% of the patients, and an orientation in an oral healthcare was made in 15.60% of patients. The overall "network" effect was significantly associated with description of phenotypic signs (corrected p = 1.44e-77) and orientation to an oral healthcare (corrected p = 23.58e-44). Taking the Defiscience network (rare diseases of cerebral development and intellectual disability) as a reference for the odd ratio analysis, OSCAR, TETECOU, FILNEMUS, FIMARAD, MHEMO networks stand out from the other networks for their significantly higher consideration of oral phenotypic signs and orientation in an oral healthcare.
To our knowledge, no study has explored the management of oral health in so many rare diseases. The expected benefits of this study are, among others, a better understanding, and a better knowledge of the oral care, or at least of the consideration of oral care, in patients with rare diseases. Moreover, with the will to improve the knowledge on genetic diseases, oral heath must have a major place in the deep patient phenotyping. Therefore, interdisciplinary consultations with health professionals from different fields are crucial.
目前约有 8000 种罕见疾病被定义。在个体易感性的背景下，特别是由罕见疾病引起的易感性，确保口腔健康是一个特别重要的问题。本研究的目的是评估任何罕见遗传疾病患者的口腔保健课程模式。评估了口腔表型体征的描述-预测理论上的口腔保健课程-以及有效导向口腔保健。
我们设立了一项回顾性队列研究，以描述 2017 年 1 月 1 日至 2020 年 1 月 1 日期间在 Necker Enfants Malades 医院至少接受过一次就诊的至少患有 39 种罕见疾病的 2712 名患者的口腔健康考虑因素和潜在的口腔保健方向。我们使用 Necker-Enfants Malades 医院的数据仓库 Dr Warehouse®（DrWH）从这项研究中招募患者。
研究样本包括 39 种罕见疾病，2712 名患者，其中 54.7%为女孩，45.3%为男孩。在研究的样本中，27.9%的患者有获得延迟或普遍发育障碍。在所研究的患者档案中，18.40%的患者描述了口腔和牙齿表型体征，15.60%的患者接受了口腔保健指导。总体“网络”效应与表型体征的描述（校正后 p=1.44e-77）和口腔保健方向（校正后 p=23.58e-44）显著相关。对于奇异比分析，以 Defiscience 网络（大脑发育和智力障碍的罕见疾病）为参考，OSCAR、TETECOU、FILNEMUS、FIMARAD、MHEMO 网络在口腔表型体征和口腔保健方向的考虑方面明显优于其他网络。
据我们所知，没有研究探讨过如此多种罕见疾病的口腔健康管理。这项研究的预期收益除其他外，是更好地理解和更好地了解口腔护理，或者至少了解罕见疾病患者的口腔护理考虑。此外，为了提高对遗传疾病的认识，口腔健康必须在患者的深度表型中占据重要地位。因此，不同领域的卫生专业人员之间的跨学科咨询至关重要。
