Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method
Abstract Background 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 co...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02467-7 |
| _version_ | 1798038804219559936 |
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| author | Lisa Friedlander Marc Vincent Ariane Berdal Valérie Cormier-Daire Stanislas Lyonnet Nicolas Garcelon |
| author_facet | Lisa Friedlander Marc Vincent Ariane Berdal Valérie Cormier-Daire Stanislas Lyonnet Nicolas Garcelon |
| author_sort | Lisa Friedlander |
| collection | DOAJ |
| description | Abstract Background 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. Materials and methods 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. Results 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. Conclusion 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. |
| first_indexed | 2024-04-11T21:45:21Z |
| format | Article |
| id | doaj.art-e3b190cb759740d88bcc81d07cc74a58 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-11T21:45:21Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-e3b190cb759740d88bcc81d07cc74a582022-12-22T04:01:26ZengBMCOrphanet Journal of Rare Diseases1750-11722022-08-0117111210.1186/s13023-022-02467-7Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction methodLisa Friedlander0Marc Vincent1Ariane Berdal2Valérie Cormier-Daire3Stanislas Lyonnet4Nicolas Garcelon5Université de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert DebréImagine Institute, Data Science Platform, INSERM UMR 1163, Université de ParisUniversité de Paris Laboratoire ECEVE INSERM, UMR1123, Hôpital Robert DebréImagine Institute, Data Science Platform, INSERM UMR 1163, Université de ParisImagine Institute, Data Science Platform, INSERM UMR 1163, Université de ParisImagine Institute, Data Science Platform, INSERM UMR 1163, Université de ParisAbstract Background 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. Materials and methods 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. Results 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. Conclusion 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.https://doi.org/10.1186/s13023-022-02467-7Rare diseaseNetworkOral careText mining |
| spellingShingle | Lisa Friedlander Marc Vincent Ariane Berdal Valérie Cormier-Daire Stanislas Lyonnet Nicolas Garcelon Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method Orphanet Journal of Rare Diseases Rare disease Network Oral care Text mining |
| title | Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method |
| title_full | Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method |
| title_fullStr | Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method |
| title_full_unstemmed | Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method |
| title_short | Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method |
| title_sort | consideration of oral health in rare disease expertise centres a retrospective study on 39 rare diseases using text mining extraction method |
| topic | Rare disease Network Oral care Text mining |
| url | https://doi.org/10.1186/s13023-022-02467-7 |
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