Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study

Rare dieases affecting the teeth, the oral cavity and the face are numerous although each specific disease is rare. Oral clefts and diseases such as multiple dental agenesis and amelogenesis imperfecta are examples of genetic conditions that affect head, neck and teeth in isolation or as part of a syndrome. These pathologies affecting the face have consequences on both appearance and oral function. Therapy involves a multidisciplinary team encompassing surgery, dental care, and speech therapy [1, 2]. Psychological management is needed because oral and general OHRQol are always impacted [2‐4]. Indeed, with regard to facial clefts, surgical management begins in the first months of life and carries on throughout childhood, then from adolescence with orthodontic care and often in adult life with implants and prosthetic care [5].

More specifically, alteration of self-image was reported due to the facial malformation and handicap often generated [6, 7]. Educational integration, in terms of both social relations and school level, may be impaired by the disease [8].

To these difficulties are added financial issues. Dental prosthetic rehabilitation is poorly reimbursed in many countries such as France. In addition, travel costs are not supported and if the center of expertise is far from home, and costs can be important for families. Patients give up care for financial reasons [9].

Oral health-related quality of life has been extensively studied in the literature. It is now recognized that oral health cannot be dissociated from general health and therefore that oral health is a major component of the overall OHRQol but that oral parameters are not the only ones responsible for a lower general quality of life. According to the WHO, oral health affects people physically and psychologically, and not only influences how they grow, enjoy life, look, speak, chew, taste food and socialize, but also has an impact on their feelings of social well-being [10]. Our hypothesis was that elements like social and financial characteristics have a more negative effect on the oral health-related quality of life of young patients than the nature of the disease and its therapy. To validate this, we performed a quantitative and qualitative study to assess the association between OHRQol, and other factors such as demographic and psycho-social characteristics, clinical and dental factors, care course and renouncement of dental care. There are many scientifically validated tools available to study the oral health-related quality of life in children. In order to assess how these diseases affected patients’ ability to fully accomplish everyday tasks, the CHILD-OIDP questionnaire validated in French by Tubert-Jeannin S. and al. in 2005 [11] and initially validated by Gherunpong, S. and all [12] was chosen.

In addition, we performed a qualitative analysis based on a free-answer question asked at the end of the questionnaire, so that the patients could freely express feelings about their diseases and life.

Our objective was to provide the public authorities with reliable elements for implementing public health policies that are as close as possible to the real needs of children suffering from these diseases.

Five expertise centres participated in the study. Two specialized in maxillo-facial surgery and three in oral surgery.

A list of 1168 patients was obtained from the centres. A sample was obtained after eliminating patients not living at the declared address, and by stratifying patients as a function of age, gender and disease type (cleft versus dental rare RD). The final analysis was performed on 440 children between 6 and 17 years old (Fig. 1). Overall, 108 patients did not receive the questionnaire because their address had changed, leading to the inclusion of 132 patients in the survey. Complete data (people whose score was calculable and who respected inclusion criteria) were available for 110 patients.

The sample included 49 boys (44.5%) and 61 girls (55.5%). Ages ranged from 6 to 17 years old and 75 were between 6 to 12 years old (68.2%) and 35 were between 13 and 17 years old (31.8%).

Regarding the children’s social coverage, 103 (94.5%) of them were covered by social security and private health insurance. In this sample, 54 (55.1%) of the children benefited from 100% coverage by social security (“100% ALD”).

Regarding the distribution by type of disease, 51 (51.5%) of the children in this sample presented an oral cleft and 48 (48.5%) of them had an isolated dental disease. There were 32 (32.3%) of children affected by syndromic disease.

The OHRQol score, CHILD-OIDP, ranged from 6.7 to 80 with a median of 20.8 (Table 1).

Our hypothesis, verified here, was that medical and oral alteration was not the only factor responsible for harming children’s OHRQol.

For example, the bivariate analysis showed that being a girl was significantly associated with a lower OHRQol (p = 0.03). This result corroborated several studies on the OHRQol of patients with clefts or facial alteration [17]. On the other hand, several studies with smaller cohorts did not show this difference [18, 19].

The physical and social deterioration of these diseases affecting the orofacial sphere may be more difficult for young and teenage girls who may be under significant social and aesthetic pressure.

The syndromic forms, more serious and disabling because they were sometimes associated with other motor and / or intellectual handicaps, required more intensive overall care [20].

The study has shown in the multivariate model that having an isolated dental disease (without the presence of a facial cleft) was associated with a poorer OHRQol (p = 0.002) than those who suffered additionally from a facial cleft. Dental rare diseases can concern anomalies of: number of teeth (agenesis, anodontia, oligodontia, supernumerary teeth), size and shape of the teeth (microdontia, conical teeth...), structure of the teeth (amelogenesis imperfecta, enamel hypoplasia, hypomineralization, dentinogenesis imperfecta, dentinal dysplasia gingival and parodontal diseases (gingival overgrows, gingival fibromatosis, periodontitis), eruption, of the teeth (retainend teethn delay of eruption of the teeth …). These diseases have functional repercussions but also aesthetic and social because the appearance can be largely altered. [6, 21‐23]. However, this result appeared surprising since having a facial cleft seemed to be more disabling, especially if it is syndromic. Nevertheless, the diagnosis of facial clefts was prenatal. Our study led us to form the hypothesis that short and long-term treatments were well established and organized around a multidisciplinary team including psychological care. On the contrary, this study showed that difficulties related to funding and care pathways appear more present in patients with dental diseases (shape and color alteration of teeth, orthodontics treatment) (Table 3). The qualitative analysis also revealed that patients and their parents reported daily life-dental issues: pain, difficulty when eating, brushing teeth, altered tooth color, reduced chewing surface, lack of saliva, and restricted mouth opening. These issues did not appear in the quantitative analysis.

The third issue associated with a lower OHRQol was the renouncement of dental care (p = 0.01). This renouncement may be explained by many reasons such as financial cost, easy access to care, and difficulty to choose an expert practitioner to perform the complex treatments required. Oral care for children suffering from rare dental diseases (oligodontia, ectodermal dysplasia, for example) most often required multidisciplinary treatments include orthodontics and sometimes orthognathic surgery, conservative care, removable prosthesis at first and conventional fixed dental prosthesis and implant prosthetic rehabilitation at the end of growth [24‐26]. The treatments are long and are not or only partly covered by health insurance. Moreover, treatments become more complex and expensive with age. Therefore, there is in increasing correspondence between the renouncement of care and worsening OHRQol (Table 2). Qualitative analysis revealed that cost was an issue that worried parents. In France, the socialized share of expenses incurred by the prosthetic and orthodontic rehabilitation of children and adults with rare orofacial diseases is not greater than for healthy patients, except for implants (without prosthesis) in the case of ectodermal dysplasia. No care scheme is currently planned for patients suffering from diseases affecting the oral sphere and whose lifelong care will be long and expensive. For all these reasons, we propose that a “rare orofacial disease care package” would be a good health policy for improving the OHRQol of patients with dental diseases.

The qualitative analysis also showed that the renouncement of dental care increases with the rarity of the disease. Parents and patients mentioned difficulties regarding diagnosis and surgery [27].

Feeling isolated, alone and different from other children was significantly associated with a lower OHRQol in the quantitative analysis. In the qualitative analysis, parents reported that their children were anxious about their future and their daily lives. Their appearance was sometimes greatly altered, and the gaze of others is a source of discomfort and anxiety. Lack of self-confidence, fear of smiling and the feeling of being beautiful appeared to be important for these young people. It is important to systematically make available help and psychological support during childhood and during the transition from pediatric to adult medical treatment. The literature showed that appearance and speech were the most frequently discussed points for children with facial clefts. Individuals with facial clefts may struggle with the psychological and social sequels of having differences in their appearance and speech [28].

This lack of psychological care has been accompanied, according to the qualitative analysis of the verbatim comments, by poor communication on the part of doctors. Children and their families reported anxiety about the future and the lack of responses to their questions about future treatments. This study has shown the interest of the identification of psychological factors that could be used to improve children’s self-esteem and OHRQol.

Very few studies have mixed quantitative and qualitative analyzes regarding rare orofacial diseases [29, 30]. The existing literature with lip and/or palate cleft has focused almost exclusively on the medical aspects of care rather than patient experience, on objective measures rather than subjective self-perceptions, and on deficits rather than strengths.

The literature showed that the OHRQol of children with oral disease was much worse than in the general population [12, 31, 32]. The median CHILD-OIDP score was 20.08/100 while for the general population it is between 2 and 8 [11, 33]. The Child-OIDP score had the advantage of combining varied performances ranging from daily life to social relations. It had been shown in the literature that neither self-administration nor accompaniment by an investigator affect the results of questionnaires [34]. Thus, the fact that children responded with their parents, when they were not able to do it alone, did not limit the correct interpretation of the answers [35, 36].

Although many efforts have been made in recent years regarding policies designed to improve access to the diagnosis and care of patients with RD in France, care pathways remain very complex for patients and their families. Financial support for necessary and oral care is still a big problem for families who must give up certain of its essential aspects.

Public policies must improve procedures so that no child with a rare disabling illness at the level of function and social acceptance has to give up the care essential to their well-being and OHRQoL. This study managed to provide some answers to these questions and to suggest orientations in terms of health policy. In addition to working for a better financial support of the treatments, a psychological care adapted to the specificities of each patient should be implemented. This study should be completed and enriched by other research to bring real recommendations in terms of public health for these young patients in their care course. Concerning the impact and the financial burden of these diseases, it would be interesting to conduct medico-economic evaluation studies and to evaluate the costs generated in a macro and micro-economic dimension of these diseases. In addition, it would be interesting to imagine interventional studies to create levers to improve children’s psychosocial skills and to measure what could be done to improve the psychological care of patients and their caregivers.