The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain. A cross-sectional study

doi:10.21203/rs.3.rs-3554778/v1

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Research Article

The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain. A cross-sectional study

https://doi.org/10.21203/rs.3.rs-3554778/v1

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published 08 Mar, 2024

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Background

Osteogenesis imperfecta (OI) affects dental and craniofacial development, therefore it can influence oral health-related quality of life (OHRQoL). The objective of this study was to explore the influence of the severity of OI on OHRQoL in adults above eighteen years old, residing in Spain.

Method

Adults with OI were recruited from the Spanish Association of Crystal Bone (AHUCE) foundation. OHRQoL was evaluated using the Oral Health Impact Profile questionnaire, Spanish version (OHIP-14sp), oral hygiene habits, and a dental care survey. Clinical and radiological dental examinations were assessed to evaluate oral conditions.

Results

A total of 65 adults (70% female) aged between nineteen and sixty-two, diagnosed with OI and classified as type I, III, and IV (n = 20, 14, and 31 respectively) participated in the research. The total OHIP-14sp scores were significantly higher (worse) for type III (23 [SD = 10]) and type IV (21.4 [SD = 12]) than for type I (13.8 [SD = 6]) (P < 0.05). The negative impact of OHRQoL was due to the association of type III OI with all domains except handicap, while type IV OI was associated with physical disability, social disability, and handicap (P < 0.05 for both).

Conclusion

The severity of OI negatively impacts OHRQoL in adults. This association is statistically significant.

Osteogenesis imperfecta

Oral health-related quality of life

Oral health impact profile

Osteogenesis imperfecta (OI), is known as brittle bone disease, a rare, chronic, and currently noncurable disease characterized by inadequate formation of bone tissue due to a lack of collagen mainly (Col1A1 and Col1A2) or that is of poor quality (1). The incidence of OI is estimated to be between 10 in 100,000 newborns and an approximate prevalence of 5 in 100,000 people (2). This estimate is of a lower limit, as the mild forms of the disease are not often diagnosed. In Spain, there could be a minimum of 2700 affected by any type of OI (3). There is a growing trend among researchers interested in this field to refer to it as "Osteogenesis Imperfecta Syndrome", which is characterized by: low bone mass, bone fragility, joint laxity, hearing loss, blue sclera, and a wide spectrum of clinical severity: from almost straight bones and very few fractures to others with multiple fractures, including intrauterine fracture (4). Since 2006, OI has been known to be caused by several mutations in collagen-related genotypes, making 27 types and more each with a unique inheritance pattern. Despite being widely used, the new genomic classification system is still under discussion. The large number of types complicated the classic classification of the disease, hence for the simplicity of evaluation, we still follow the old classification described by Sillence (5). The goal of OI treatment is to alleviate symptoms and support normal function. Moreover, by decreasing bone turnover and improving bone mineral density, bisphosphonates are regarded as the most effective treatment for minimizing fractures and therefore, pain (2).

Osteogenesis imperfecta can impair growth and jaw development and teeth, leading to orofacial changes (6, 7). Dental problems such as dentinogenesis imperfecta (DI), agenesis, impacted teeth, and ectopic eruption contribute to malocclusion in this population (7, 8). These mentioned anomalies that develop in early life and worsen with age in the OI population, can lead to difficulties in chewing, biting, and speaking and can cause pain and discomfort (9).

Oral health is recognized as part of overall health and an important component of quality of life. From here developed the concept of “oral health-related quality of life” (OHRQoL), which includes four categories: functional factors, psychological factors, social factors, and the existence of discomfort or pain (10). Najirad et al, demonstrated that the severity of OI impacts OHRQoL in adolescents aged 11 to 14 years. Scores were higher (i.e., worse) for type lll and IV than for type l. Differences were associated with a significantly higher grade of functional limitations on OI types lll and IV compared to OI type I (9). Furthermore, according to Rizkallah and colleagues’ analysis of the peer assessment rating and discrepancy index, individuals with OI have significantly lower estimates for five malocclusion traits than the general population, including anterior open bite, posterior open bite, anterior crossbite, posterior crossbite, and Angle classification III (11). Understanding the relationship between the severity of OI and its impact on OHRQoL helps dentists and healthcare professionals provide more effective care and treatment strategies. They can tailor their approaches to address the specific needs and challenges faced by individuals with severe OI types, which may include more frequent dental check-ups, specialized oral care plans, or preventive measures to minimize dental complications (12). In Spain, this is the first study where an oral clinical examination is carried out on adults above eighteen years old with OI. There are neither registrations nor published articles describing the oral conditions of adults with OI. Therefore, our objective is to study the oral status of adults with OI and to explore the impact of disease severity on OHRQoL. We hypothesized that adults with severe phenotypes of OI would have a greater negative impact on OHRQoL when compared with OI types with less severe phenotypes.

Adults above eighteen years old with OI have been recruited from the Spanish Association of Crystal Bones (AHUCE) Foundation (3), which serves individuals with a clinical and/or molecular diagnosis of OI in Spain. A cross-sectional study, consisting of questionnaires and clinical examination was applied. Participants were divided according to their phenotype and clinical symptoms by the scientific committee of the mentioned foundation into three groups (type I, III, and VI). All participants were informed about the purpose of the study. Participation was voluntary and each patient received a complete dental report free of charge. The investigation was approved by the San Carlos Clinical Hospital Committee for Medical and Health Research Ethics of Madrid, and all study participants provided informed consent.

Questionnaire

An online self completed questionnaire in concordance with the checklist for reporting results of internet E-surveys (13), was launched on the website of the AHUCE foundation from April 2020 to April 2022. Only individuals with OI had access to the questionnaire. Reminders were sent several times to fill out the questionnaire, which also included demographic and medical history questions.

Oral health impact profile questionnaire

The original questionnaire (OHIP-49) consists of 49 items that were developed based on a theoretical model by the WHO, which was subsequently adapted by Locker, and developed in Australia (14, 15). The original version was simplified to a 14-item scale (OHIP-14), which is reliable despite being a short questionnaire. Montero-Martín et al. validated the short form of the questionnaire for adults in Spain and has proven to be an accurate, valid, and reliable instrument to assess oral health-related quality of life among adults in Spain (16). For that reason, it is widely used in both cross-sectional and longitudinal studies and internationally accredited (16–19). The questionnaire focuses on seven dimensions of impact (functional limitation, pain, psychological discomfort, physical disability, psychological disability, social disability, and handicap) for the determination of OHRQoL. Answers are coded according to the frequency of impact on a 5-point Likert scale into never (score 0), hardly ever (score 1), occasionally (score 2), fairly often (score 3) and very often (score 4). To obtain the score, values are added, with a minimum of 0 points and a maximum of 56 points for every patient (16). Therefore, low scores indicate better self-quality of life perceived and high scores indicate worse self-perception of quality of life. Additionally, it can be expressed as negative and positive self-perception. The questionnaire is available in English and Spanish (see additional file 1).

Oral hygiene habits and dental care survey

A dental survey made from ten questions recruited by the first author includes information about personal oral hygiene behavior, dental prophylaxis (maintenance), and the habit of visiting their dentist, i.e., dental checkups or in cases of complaints (see additional file 2).

Clinical and radiological dental examination

A multicentral study, and dental, and craniofacial evaluations for malocclusions were performed by an orthodontist at the AHUCE foundation (Madrid and Valence). As a part of the investigation, intraoral photos and a full-mouth periapical survey (using a dental portable X-ray machine and sensor) were performed instead of panoramic radiographs. Since the study was carried out during the COVID-19 pandemic period, patients could not be scheduled for panoramic radiographs. Participation in the clinical examination was very small. One of the participants was edentulous and therefore not radiographed. The oral hygiene of the participants was evaluated based on the oral hygiene index simplified (OHI-S), which consists of two elements: a simplified debris index DI-S and a simplified calculus index CI-S, each rated on a scale of O to 3 (20). Adjusted DFT (decayed and filled teeth) is used for caries experience instead of DMFT (decayed, missing, and filled teeth) as the authors believe that the adjusted index overcomes the cause of missing teeth. The ADFT index was previously employed in investigations including OI and Down syndrome (21). Scores were adjusted by dividing total caries and fillings by the total number of teeth present at the time of dental examination. The DFT index is a continuous variable ranging from 0 to 1 (22). The presence of Dentinogenesis Imperfecta was determined by increased translucency of enamel and discoloration of blue-gray to brown color of teeth, in addition to the presence of abnormal radiographic signs such as; pulp obliteration, short roots, thin roots, and cervical constriction (8). Radiographs were used to determine the number of existing teeth, endodontically treated teeth, and implants. For statistical analysis missing teeth and endodontically treated teeth were divided into three groups from 0–3, 4–7, and > 7. The registration does not include third molars. The use of removable dentures was also recorded. Assessment of malocclusion was performed in three planes; the sagittal, transverse, and vertical planes. In the sagittal plane, by using Angle classification, it was recorded as molar 1, class I; 2, class III and 3, for missing molars or the presence of removable denture as "other”. Only one patient with molar class II was grouped with "other” in our main analysis. Crossbite was registered with the mandibular molars in centric occlusion. Anterior crossbite in the case of maxillary incisors was palatally positioned to the mandibular incisors. In the transverse plane, posterior crossbite was recorded when maxillary molars were occluded in a lingual relationship. Single-tooth crossbite is not considered. In the vertical plane, an open bite is registered when there is a gap between the upper and lower teeth while the mandible is in centric occlusion.

Data analyses

Statistical analysis of data was performed with SPSS 25.0 for Windows. The summary of characteristic data of the sample is shown in Table 1, contingency tables for the relationship between qualitative variables (CROSSTABS procedure). A chi-square test to contrast the independence between two qualitative variables with small cell counts was employed. Nonparametric Kruskal-Wallis test (NPTESTS procedure) with OHIP-14 and subscales as dependent variables for comparison of a quantitative variable between more than two groups. The Mann-Whitney U-test (non-parametric) was performed to assess the significance of differences between the two groups. OHIP-14 scores and their constituent subscale scores were transformed into ordinal variables using their 33rd and 66th percentiles. Gender and age were identified as the minimum set of potential confounders, to be included in the multivariate analyses. Multivariable ordinal logistic regression analyses were employed to estimate the total effect of OI types on the OHIP-14 score and its constituent domains.

Table 1

Characteristics of adults with OI and their oral condition.
Types of OI	Mild OI Type I	Moderate OI Type IV	Sever OI Type III	All
Sociodemographic characteristics
Enrolment number – n (%)	20 (31)	31 (48)	14 (21)	65 (100)
Female	18 (90)	19 (61)^a	9 (64)	46 (70)
Age – Average Range	29	35	35	-
Educational level – n (%) Some college - high school or less College graduate - post-graduate	2 (10) − 6 (30) 8 (40) − 4(20)	8 (26) − 13 (41) 7 (23) − 3 (10)	4 (29) − 7 (50) 20 (14) − 1 (7)	14 (22) − 25 (39) 17 (27) − 8 (12)
Pertinent Medical Conditions
Genetic mutation– n (%) Col1A1 - Col1A2 Others - don’t know	16 (80) − 2 (10) 0 (0) − 2 (10)	19 (61) − 7 (23) 1 (3) − 4 (13)	5 (36) − 4 (29) 3 (21) − 2 (14)	40 (62) − 12 (19) 4 (6) − 8 (13)
Medications currently related to OI – n (%) Bisphosphonate + other types of drugs – Yes	10 (50)	18 (58)	9 (64)	37 (57)
Bisphosphonate Oral – IV	8 (80) 3 (37.5) – 5 (62.5)	12 (67) 1 (8.3)-11 (91.7)	4 (45) 1 (25)- 3 (75)	24 (65) 5 (20.8) – 19 (79.2)
Denosumab (Prolia)	0 (0)	3 (17)	1 (11)	4 (11)
Forsteo	1 (10)	0 (0)	1 (11)	2 (5)
Other types of drugs	1 (10)	3 (17)	3 (33)	7 (19)
Vit D intake – Yes	12 (60)	26 (84)	12 (86)	50 (77)
Calcium intake – Yes	12 (60)	14 (45)	10 (72)	36 (55)
Oral Conditions Enrolment number – n (%)	9 (36)	11 (44)	5 (20)	25 (100)
DI (Yes) – n (%)	2 (22)	5 (45)	1 (20)	8 (32)
Molar classification – n (%) Cl Clll Cll and neglected*	6 (66) 2 (22) 1 (11)	4 (36) 4 (36) 3 (27)	0 (0) 3 (60) 2 (40)	10 (40) 9 (36) 6 (24)
Anterior open bite – n (%) Yes	0 (0)	2 (18)	3 (60)	5 (20)
Posterior open bite – n (%) Yes	1 (11)	0 (0)	3 (60)	4 (16)
Anterior crossbite– n (%) Yes	0 (0)	3 (27)	3 (60)	6 (24)
Posterior crossbite– n (%) Yes	1 (11)	3 (27)	3 (60)	7 (28)
Oral hygiene index–n (%) Good	6 (66)	4 (36)	2 (40)	12 (48)
OHHDCS^α _ Average range	32.5	28.5	38.5	-
Adj. DFT (Score)	0.26	0.29	0.21	-
Statistical tests between categorical variables and OI types mild, moderate, and severe: Chi-square test for contingency tables, Kruskal-Wallis test for age, and oral survey with types of OI as independent variable *Neglected: missing molars or removable denture, α OHHDCS: Oral hygiene habits and dental care survey

Eighty individuals participated in the study, and fifteen were excluded because they had no genetic testing. The remaining 65 individuals, 46 females (70%), with a mean age of 42,6 years, were diagnosed according to their phenotype and clinical symptoms into three groups of OI types I, III, and IV (n = 20, 14, and 31, respectively). One of the patients participated only in the oral examination, and thirty-nine of the participants had an educational level of high school or less. There were no significant differences between different types of OI concerning sociodemographic factors. The majority of studied individuals (62%) had the genetic mutation Col1A1, 19% had Col1A2, 13% did not remember the type of genetic mutation, and four participants (6%) had other types of genetic mutations. The number of participants with the rest of the genetic mutations was too small for statistical analysis, and this sample was analyzed in one group as "Others” (Table 1). More than half of the studied population (58%) are being treated with medications related to OI (bisphosphonate, denosumab, forsteo, and others) (n = 24, n = 4, n = 2, n = 7 respectively). As the research was conducted during the COVID-19 period, clinical participation was very poor (n = 25), with the following distribution type I, III, and IV OI (n = 9, 5, and 11 respectively). Only two participants had removable dentures (one with OI type IV and the other with OI type III), and another two participants (with type I and IV) each had one implant.

The total scores of OHIP-14sp were significantly higher (worse) in OI types IV and III than in type I (p_value < 0.05 for both). Type IV was associated with higher grades (physical disability p = 0,034, social disability p = 0,003, and handicap p = 0,018) compared with type I, while type III had a greater negative impact on the OHRQoL due to the negative impact of all following domains (functional limitation p = 0,010, physical pain p = 0,042, psychological discomfort p = 0,016, physical disability p = 0,002, psychological disability p = 0,035, and social disability p = 0,043) (Table 2).

Table 2

Oral health impact profile questionnaire among different types of OI.
OHRQoL	Number of items	Possible range	Observed range	Type I N = 20 Mean (SD)	Type IV N = 30 Mean (SD)	Type III N = 14 Mean (SD)	Total N = 64 Mean (SD)
OHIP-total	14	0–56	4–51	13.8 (6)	21.4 (12) ^a	23 (10) ^b	19.4 (10.8)
Functional limitation	2	0–8	0–6	0.6 (0.8)	1,5 (1.6)	1,9 (1.5) ^c	1,3 (1.4)
Physical pain	2	0–8	0–8	2.7 (1.5)	3.4 (2)	3.9 (1.7) ^d	3.3 (1.9)
Psychological discomfort	2	0–8	0–8	4.4 (1.5)	5 (2)	5.5 (1.9) ^e	5 (1.9)
Physical disability	2	0–8	0–8	1 (1)	2.7 (2,3) ^f	3 (1,9) ^g	2,4 (2)
Psychological disability	2	0–8	0–8	2,5 (1,4)	3.4 (2,4)	4 (2.4) ^h	3.2 (2.1)
Social disability	2	0–8	0–8	1 (1)	2.7 (2)ⁱ	2 (1.9) ^j	2 (1.9)
Handicap	2	0–8	0–8	1 (1.4)	2,4 (1.9) ^k	2 (2)	2 (1.9)

Statistical analysis: Kruskal-Wallis, results have been confirmed by the Mann-Whitney U test (non-parametric test), Results are shown as n or mean (SD).

a) p = 0,026 OI type IV compared to type I OI.

b) p = 0,007 OI type III compared to type I OI.

c) p = 0,010 OI type III compared to type I OI.

d) p = 0,042 OI type III compared to type I OI.

e) P = 0,016 OI type III compared to type I OI.

f) p = 0,034 OI type IV compared to type I OI.

g) p =0,002 OI type III compared to type I OI.

h) P =0,035 OI type III compared to type I OI.

i) P = 0,003 OI type IV compared to type I OI.

j) P = 0,043 OI type III compared to type I OI.

k) P = 0,018 OI type IV compared to type I OI.

Table 3: Adjusted odds ratio of the negative impact (having higher grades) on the OHRQoL in adults.

OHIP-total

Functional limitation

Physical pain

Psychological discomfort

Physical disability

Psychological disability

Social disability

Handicap

OI (Type I)

Type III

31 (2-445)*

15 (1.3-185) *

∞*

16 (1.6-170) *

59(2.8-1246)*

21(1.7-258)*

₰*

2(0.3-12)*

Type IV

1.7(0.3-10)

2 (0.4-10)

1,2(0.2-7)

3(0.5-22)

5(0.5-53)

2(0.4-10)

0.2(0.18-2)

0.5(0.1-2)

Age

1(0.9-1)

0,9(0,7-1.05)

1(0.84-1.1)

1(0.96-1.08)

0.9(0.8-1.03)

1(0.94-1.06)

1(0.93-1.07)

1(0.8-1)

Gender (Female)

Male

1.2(0.3-5.2)

1.2(0.2-5)

2.4(0.5-11)

2.6(0.5-13)

2(0.3-5)

1(0.2-4)

3.5(0.5-24)

0.5(0.3-3)

Results are given as Odds Ratio (95% Confidence Interval) *Statistically Significant findings at p < 0.05.

∞ = 597531957 (109852859-3250206163).

₰ = 89355128 (19606736-407224270).

Table 3 shows the results of multivariable-adjusted ordinal logistic regression for adults with OI. A diagnosis with the more severe type of OI (type IV and III, respectively) was associated with a negative impact on OHRQoL. This association was statistically significant. Having OI type IV was associated (p > 0.05) with a higher grade of (physical disability, social disability, and handicap) domains compared to type I, while type III OI was associated (p > 0.05) with a higher grade of all domains except the handicap domain (Table 2). After adjusting for sociodemographic variables (age, and sex), having OI type III compared to OI type I had 31 (95% CI: 2–245) times higher odds of having a higher (worse) grade of the OHIP-14 score. This association was predominantly attributed to the strong correlation between OI type III and all domains, including the handicap domain (subscale of OHIP). Although the total OHIP-14 score for OI type IV was significantly higher than that for OI type I in univariate analysis (Table 2), this difference became statistically insignificant after adjusting for the other variables in the model.

This cross-sectional study compared OHRQoL between adults with different types of OI, using the OHIP-14sp questionnaire. The type IV and III OI groups showed significantly higher OHIP scores (worse) than the type I OI group (p_value = 0,02 and 0,007, respectively). The deterioration of OHRQoL was found in type III as a result of the affection of all domains except handicap in comparison with type I OI (p_value < 0.05). For participants with type IV OI, the negative impact on OHRQoL was related to higher grades of physical disability, social disability, and handicap compared to type I OI (p-value < 0.05). Comparison of our study with the literature was limited, as very little is known about OHRQoL in adults with OI.

Interestingly, the administration method based on a questionnaire or interview did not affect the total OHIP score; however, the interview response rate was significantly higher (23). Nearly similar results were observed in a study evaluating OHRQoL among children and adolescents with different OI severities living in North America employing the CPQ questionnaire (9). In the aforementioned study, OHRQoL was significantly lower in adolescents with severe OI (type III) than in those with mild OI (type I). The differences were found due to the association between OI types III or IV and the functional limitations domain, as shown in our study. In addition, there were no differences in OHRQoL between children aged 8–10 years. The similarities between patterns in both studies on functional limitations repeatedly indicate that functional limitation is a major cognitive problem when assessing OHRQoL in individuals with OI. The affection of all domains in adulthood with OI shown in our results may remind us that adults have long-term physical, psychological, and social problems or may be more aware of the oral problems and deterioration caused by this disease. There are common diseases that cause complications in all age groups, but this is especially important in adults because oral conditions tend to progress slowly with chronic disease (24).

In our investigation, 45% of participants had diseases other than OI, three of them had diabetes mellitus (two patients with type III and one with type IV OI), and one patient had a history of breast cancer with type IV OI, which may contribute to worsening quality of life-related to oral health. The rest of the participants had different diseases such as hypertension, asthma, osteosclerosis, hypothyroidism, different heart problems, and blood diseases. We were unable to remove them as exclusion criteria due to the limitation of the rare disease and the small sample size. According to the literature, diabetes worsens OHRQoL, which can lead to functional limitations, physical pain, and psychological discomfort (25).

Regarding sociodemographic factors, in our study, there were no differences in age, gender, or educational level between different types of OI after performing bivariate analysis, however, there were differences in OHRQoL among different educational levels. Participants with postgraduate degrees had a better OHRQoL in comparison with those with an educational level of high school or less, as the latter was associated with higher grades of total OHIP-14 and handicap. Some studies have shown a negative impact of OHIP with increasing age, female gender, and educational level (26, 27). A negative impact of physical pain and psychological discomfort was found among Canadian adults living in rural areas with secondary or lower education levels (28). According to the literature, orthodontic and orthognathic surgical interventions are limited in individuals with OI due to the poor quality and quantity of bone and bisphosphonate treatment (29). Diseases affecting the oral cavity have been found to significantly reduce quality of life with increased severity of osteonecrosis related to bisphosphonate treatment (30). In our studied population we observed that 57% were under treatment with bisphosphonate (19 with IV injections and five with oral intake) and other drugs related to OI. This highlights the importance of research in this area. Therefore, dentists should be aware of this fact and give adequate care and attention to these patients through good knowledge, frequent monitoring, and examination.

A limitation of the OHIP-14 questionnaire is that it does not assess factors influencing OHRQoL, and it is not tailored to the population with OI. These factors could be related to various oral conditions (10). For this reason, in our study, we describe the oral status of 25 adults with different types of OI. According to the literature, people with OI have a higher frequency of malocclusion than the general population, and the severity of malocclusion is directly proportional to the severity of the disease (31, 32). In our research, no significant differences were found between different types of OI in Angel’s classification or its impact on OHRQoL, and this is most likely due to the small sample size; however, a higher frequency of Class l was found in type I OI, and a higher frequency of Class III, open bite and crossbite was found in type IV and III OI. Figure 1 shows some cases of type IV and type III OI. Individuals with open bite were significantly associated with higher grades of functional limitations (p_value = 0,002). Najirad et al showed a significant correlation between posterior open bites or crossbites in adolescents with OI and the functional limitations domain with worsening oral symptoms (12). Various studies have demonstrated that malocclusion affects the oral function and body image of individuals and causes psychological disorders (33). The severity of malocclusion is directly related to the impact on the patient’s quality of life related to oral health (34). Moreover, the greatest impact was seen in the psychological discomfort and psychological disability domain (35).

Regarding the healthy population, the most common oral health problems are tooth decay and periodontal disease. They have physical, social, and psychological consequences, i.e., they affect the quality of life of patients (36). For this reason, we analyzed scores of adjusted DFT-indexes that present the caries prevalence as a proportion of teeth affected by caries, and we found that scores of adjusted DFT-indexes were similar in all groups of OI. A similar finding was observed in a cross-sectional multicenter study describing caries prevalence and experience (CPE) in 319 individuals with OI. In this study, researchers correlated DI with the probability of increasing caries experience compared to subjects without DI as well as controlling other predictors of CPE (37). The prevalence of DI in our study was 32%, and was higher in the type IV OI group (20%) than in the types I and III OI groups, without any negative influence on OHRQoL. In the literature, there was an increasing DI prevalence with increased OI severity (38–40). Analyzing the impact of missing teeth as an influencing factor on OHRQoL in adults with OI, regardless of the cause, either due to caries, trauma, or agenesis, we found that individuals with more than seven missed teeth were associated with higher grades of physical pain (p_value = 0.008); however, no differences were found between different types of OI regarding the number of missed teeth. Previous literature has shown that tooth loss has a negative impact on OHRQoL (41), positive quality of life is related to the presence of at least 10 teeth in each arch, preferring natural teeth, and the decrease in number deteriorates mastication function. Impaired masticatory performance was associated with lower OHRQoL (42).

Oral hygiene and dental care habits should be taken into consideration. In our study we found differences between individuals with good and poor oral hygiene indexes; the latter was associated with higher grades (worse) oral hygiene habits and dental care survey (p = 0,004), with no significant difference between OI types or on OHRQoL. Previous studies demonstrated a significant association between poor oral hygiene and lower OHRQoL (43).

Unfortunately, our study has its limitations. First, it was conducted during the COVID-19 period, and participation was very poor. Second, this was the first investigation where oral registrations were made in adults with OI in Spain, therefore, we could not use previous registrations or compare our results in the Spanish population with OI. In the early future, we hope to expand the sample size and adjust for other important influencing sociodemographic variables such as economic status that may influence the OHRQoL of adults with OI. Another limitation is that we did not analyze the influence of temporomandibular joint problems and periodontal disease on the OHRQoL of adult OI patients. We believe that oral health care for people with OI could be improved with a better understanding of the natural history of oral problems in this population. Future research needs to be conducted in this field to overcome all the aforementioned limitations. As a suggestion, future studies should focus on developing questionnaires specific to the OI population.

In conclusion, this study found that adults with severe OI have higher OHIP grades and subscales, except for the handicap subscale than adults with mild OI. Individuals with moderate OI have higher grades of OHIP, physical disability, social disability, and handicap than those with mild OI. These associations lead to a lower OHRQoL in adults with moderate and severe OI than in adults with mild OI.

Ethics approval and consent to participate: The study was reviewed and approved by the San Carlos Clinical Hospital Committee for Medical and Health Research Ethics of Madrid, (19/567-E), patients were informed verbally and in writing about the study and gave written informed consent.

Consent for publication: Not applicable.

Availability of data and materials: Data covered by this agreement includes [survey responses, intraoral photographs, and periapical radiographs] collected during the investigation from participants as part of the project. The data will be available through the following links

https://shre.ink/UsDX

https://shre.ink/UsDJ

Conflict of interest: the authors declare that they have no conflict of interest.

Funding: The work was not funded.

Authors contribution: All authors approved the final Manuscript.

Amira Ahmed Elfituri: Data collection, analyzed data and write the manuscript.

Manuel Joaquin De Nova: Conceptualize the study and supervised the project.

Mohammadamin Najirad: Revised the manuscript critically for intellectual content.

Acknowledgments: The authors thank Julia Piniella, director of the AHUCE foundation, and her team for helping us to collect the data from the participants and make this study possible.

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The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain. A cross-sectional study

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Oral health impact profile questionnaire

Oral hygiene habits and dental care survey

Clinical and radiological dental examination

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