Development of a database to record orofacial manifestations in patients with rare diseases: a status report from the ROMSE (recording of orofacial manifestations in people with rare diseases) database

Wiemann

Bohner

et al. 2018

IJERPH

Background: The aim of this study was to examine the current dental care situation in Germany from the perspective of those affected by a rare disease, especially concerning their satisfaction with the German dental health care system, and thus assess the relationship between their perspective and their oral health-related quality of life (OHRQoL). Methods: A questionnaire regarding their experiences with the dental assistance and the health care system, such as the OHIP-14, was sent to the member associations of the organization of self-help groups for rare diseases ACHSE e.V. The correlation between OHIP-14 values and patient’s perspective was statistically analyzed by the non-parametric Tau de Kendall test (p < 0.05). Results: There was a statistically significant correlation between the OHIP score and the patient’s perspective regarding dental assistance and health care system (p < 0.05). For those surveyed who were satisfied with the support of the health care system, an average OHIP score of 8.54 ± 10.45 points (range: 0–48) was determined. The group that did not feel sufficiently supported by the health care system had an average OHIP score of 16.07 ± 13.43 points (range: 0–56). Discussion: The majority of respondents with rare diseases are dissatisfied with the German health care system and its support with regard to dental care.

Section: Discussionmentioning

confidence: 99%

Association between Oral Health-Related Quality of Life in People with Rare Diseases and Their Satisfaction with Dental Care in the Health System of the Federal Republic of Germany

Wiemann

Bohner

et al. 2018

IJERPH

“…Only five study participants knew about specialist databases and information sources such as ROMSE (9). However, this information source is specifically designed for rare diseases with oral components (10), and this may be a possible explanation for the low level of awareness.…”

Section: Discussionmentioning

confidence: 99%

State of knowledge about information sources and health care centres for rare diseases among affected people in Germany

Cent Eur J Public Health

Wiemann

Bohner

et al. 2020

Objectives: About four million people are affected by rare diseases in Germany and 30 million in the EU. In 2013, a national action plan for people with rare diseases was adopted in Germany which is also aimed at improving the information situation and better gathering of information for affected patients and their families. Since then, various sources of information and medical care structures have been made available. The aim of this study was to evaluate the state of knowledge about information sources and health care centres for rare diseases among those affected. Methods: The study was carried out as anonymous survey among the member associations of the German Alliance for Chronic Rare Diseases (German acronym ACHSE e. V.). For this, a questionnaire was developed which in addition to questions on gender, age and disease comprised free text input referring to knowledge of health care centres or expert centres and source of information on rare diseases in Germany. Results: A total of 484 individuals suffering from 96 different rare diseases participated in the survey. Of these, 74.47% are aware of medical or dental care centres for treatment of their types of rare disease; 69.31% use self-help groups as a source of information, only a few respondents know government-sponsored "se-atlas" and "Orphanet". Conclusion: The majority of the respondents know medical care centres, most participants use self-help groups as information source, however, government-supported portals are largely unknown so that there is a need for further information in this regard.

“…If the changes in the number of teeth are added, their proportion rises even further. In many cases, however, the orofacial manifestations in rare diseases have not been described by dentists or orthodontists but are based on medical or genetic publications [12]. This is attributable to the scarcity, or even lack, of publications relating to dental/orthodontic practice or oral surgery, and it has resulted in terminology for orofacial findings that is sometimes incorrect.…”

Section: Discussionmentioning

confidence: 99%

“…Overall 3,639 rare diseases listed at the Orphanet Classification of Rare Diseases [17] were evaluated for orofacial manifestations in the Orphanet [13], OMIM [14] and Pubmed [15] databases between November 2012 and January 2018. All rare diseases indicated with at least one orofacial manifestation were incorporated in the specialized database for Rare Diseases with Orofacial Manifestations “ROMSE” (http://romse.org), which was developed by the authors [12, 16]. All the recorded rare diseases were analysed with regard to orthodontically relevant orofacial manifestations, such as dysgnathia, changes in the number of teeth, failures of eruption, pathologies of bone metabolism or orofacial clefts.…”

Section: Methodsmentioning

confidence: 99%

“…Against this political background, a database for rare diseases with orofacial manifestations was first set up in 2013 [12]. The purpose of this article is to provide an overview of the orthodontically relevant manifestations of rare diseases described in Orphanet [13], OMIM [14], PubMed [15] and the ROMSE [16] database, which was developed by the authors based on these data, and to analyse them and present the problems associated with the correct diagnosis of rare diseases.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Orthodontically Relevant Manifestations in People with Rare Diseases

Kleinheinz

et al. 2019

Med Princ Pract

Background: Approximately 15% of all rare diseases occur with orofacial manifestations. Symptoms and manifestations of relevance to orthodontists represent a considerable proportion of these diseases and require appropriate strategies for their treatment. This article provides an overview of the orthodontically relevant manifestations of rare diseases. Material and Methods: Overall, 3,639 rare diseases listed at the Orphanet, OMIM or Pubmed database were evaluated for orofacial manifestations. All rare diseases which were indicated with at least one orofacial manifestation were recorded in a database for rare diseases with orofacial manifestations called “ROMSE,” which was developed by the authors. All the rare diseases were analysed with regard to orthodontically relevant orofacial manifestations, such as dysgnathia, changes in the number of teeth, failures of eruption, pathologies of bone metabolism or orofacial clefts. For all rare diseases with orthodontic relevance, an exact analysis was undertaken. Results: The orthodontically relevant orofacial manifestation termed dysgnathia is described in 151 of 535 identified rare diseases (28.2%). In these 151 rare diseases, 15 different subforms of dysgnathia, in the sense of skeletal misdevelopments of the jaws but without dental abnormalities, were described. Also changes in the number of teeth (17.9%), orofacial clefts (27.6%), failures of eruption (8.4%) and pathologies of the bone (2.1%) were described. Conclusions: Orthodontics play an important role in the diagnosis and treatment of orofacial manifestations in rare diseases. Databases such as ROMSE are a first step toward providing valid information in publicly accessible databases.