Dental Treatment Patterns in Pediatric Patients with Rare Diseases: A Retrospective Analysis at Yonsei University Dental Hospital

Article information

J Korean Acad Pediatr Dent. 2024;51(4):417-431

Publication date (electronic) : 2024 November 25

doi : https://doi.org/10.5933/JKAPD.2024.51.4.417

Youngseo Joo, Jaeho Lee, Hyung-Jun Choi, Je Seon Song, Ko Eun Lee, Chung-Min Kang

Department of Pediatric Dentistry, College of Dentistry, Yonsei University, Seoul, Republic of Korea

Corresponding author: Chung-Min Kang Department of Pediatric Dentistry, Yonsei University College of Dentistry, 50-1 Yonsei-ro, Seoul, 03722, Republic of Korea Tel: +82-2-2228-3174 / Fax: +82-2-365-7420 / E-mail: KANGCM@yuhs.ac

Received 2024 August 30; Revised 2024 September 23; Accepted 2024 September 26.

Trans Abstract

Introduction

A rare disease is a disease with a prevalence of < 20,000 people or unknown prevalence because of difficulty in diagnosis, as determined by procedures and standards set by the Ministry of Health and Welfare. In addition to rare diseases, ultra-rare diseases are distinct diseases with diagnostic methods and a prevalence of < 200 people in Korea or diseases without separate disease codes[1]. In addition, chromosomal abnormality diseases present as new chromosomal abnormalities (such as chromosomal deletions and duplications) without specific disease names, and unspecified rare diseases remain undiagnosed despite significant diagnostic efforts and cannot be classified within the Korean Standard Classification of Diseases[1]. According to statistics from the Korea Disease Control and Prevention Agency, as of January 1, 2021, 1,086 rare diseases have been officially announced, with 55,874 rare disease cases reported in Korea in 2021. Among these cases, 3,071 occurred in individuals aged < 20 years. Representative pediatric rare diseases include Crohn’s disease, moyamoya disease, systemic lupus erythematosus, tetralogy of Fallot, and epilepsy[2].

Pediatric patients with rare diseases are at a higher risk of developing oral complications or functional impairments. Because of the abnormal growth of the maxillofacial region or underdeveloped jaws, the prevalence of malocclusion is high, including anterior open bite, crossbite, and high palates[3-5]. In addition, the frequencies of dental developmental anomalies, such as congenital tooth agenesis, enamel hypoplasia, and xerostomia, are higher[6-9]. Patients with intellectual disabilities, executive function disorders, and learning disabilities find it challenging to maintain oral hygiene[10,11], making them more susceptible to dental caries and resulting in a higher prevalence of multiple carious lesions[12-14]. The high incidence of caries leads to increased dental treatment costs, reduced masticatory function caused by the early loss of primary teeth, the development of malocclusion, and decreased patient quality of life[15,16].

The development of oral function and dental health is closely related to a child’s growth and development and is important in improving overall health and quality of life. Despite the critical importance of oral health, pediatric patients with rare diseases often lack information on oral care, and caregivers find it difficult to manage their oral hygiene[17-19]. Therefore, professional oral care and preventive approaches are crucial for these patients. Oral care comprises a medical history review, intraoral examination, and professional dental care, including procedures such as scaling, professional plaque control, fluoride application, tongue coating removal, denture care, and the management of intraoral wounds and stomatitis[20,21]. Early diagnosis of oral diseases through regular management can prevent disease progression, making early intervention essential. However, given the lack of medical and dental information on rare diseases, establishing treatment plans and predicting prognoses remain challenging[8,22].

Before dental treatment, the medical history and relationship between rare diseases and dental issues must be elucidated. Professional consultations are required to assess potential problems, precautions, and medication adjustments during dental treatment. Given the uniqueness of rare diseases, dentists often find it difficult to intervene dentally because they do not understand systemic diseases and face challenges in behavior management[23,24].

Oral diseases tend to be treated later than other physical illnesses[18,25,26]. Given cognitive and motor developmental limitations that accompany these diseases, visits to medical institutions are challenging, placing pediatric patients with rare diseases in a blind spot for dental services.

Despite studies on dental complications and oral hygiene in patients with rare diseases[6,7,17,27], no studies have focused on the specific dental treatment practices for this population in Korea. Thus, this study aimed to investigate the dental treatment experiences of all pediatric patients with rare diseases who visited Yonsei University Dental Hospital over 3 years by analyzing comprehensive data on chief complaints, treatment methods, and modalities. This study also endeavored to analyze the overall treatment patterns and differences across rare disease categories.

Materials and Methods

Results

1. Population demographics

The study population consisted of 786 individuals, including 452 males and 334 females. The mean age at the first visit and average total duration of visits were 4.90 ± 3.09 and 5.52 ± 3.66 years, respectively. Most patients resided in Seoul (49.24%) and the Gyeonggi region (40.84%). Special medical benefit was reported for 45.55% of the population. Approximately 33.21% of the population had a disability related to autism, brain lesions, intellectual disabilities, or mental disorders. Most patients (84.61%) were treated in pediatric dentistry only, whereas 15.39% also received care in other departments (Table 1).

Table 1.

Demographics of the study population

2. Representative diseases and distribution of rare diseases

The most frequent categories were CON (42%), END (18%), NER (16%), BLO (12%), and CIR (6%). If a single patient had multiple rare diseases, each disease was counted individually. Representative rare diseases for each category are shown in Fig. 1. The BLO group includes agranulocytosis, a severe reduction in white blood cells; Di George’s syndrome, affecting immune system development; and hemophilia, causing improper blood clotting[29]. The END group includes Hunter’s syndrome, a metabolic disorder; rickets, causing bone weakening from vitamin D deficiency; and Wilson’s disease, leading to copper buildup[30,31]. The NER group includes epilepsy conditions such as Lennox-Gastaut syndrome, which involves severe seizures, and West syndrome, characterized by infantile spasms and developmental delays[32]. The CIR group includes moyamoya disease, a rare condition causing progressive narrowing of brain arteries, which increases stroke risk[33,34]. The CON group includes atrioventricular septal defect, a congenital heart defect; Down syndrome, a genetic disorder causing developmental delays; and Williams syndrome, a genetic condition characterized by cardiovascular disease and developmental issues[35,36]. Commonly observed rare diseases in patients with dental problems include epilepsy (Lennox-Gastaut syndrome and West syndrome, 122 cases), Down syndrome (91 cases), atrioventricular septal defect (30 cases), Williams syndrome (26 cases), DiGeorge syndrome (22 cases), tetralogy of Fallot (19 cases), Angelman syndrome (13 cases), and moyamoya disease (12 cases).

Fig 1.

Representative diseases by rare disease classification.

The distribution across rare disease categories is provided in Table 1. Notably, compared with other categories, a significantly lower proportion of patients in the BLO (p= 0.0002) and END (p= 0.0431) categories had disabilities. In contrast, a significantly higher proportion of patients in the NER category had autism, brain lesions, intellectual disabilities, or mental disorders. Patients in NER (p= 0.0005) and CON (p= 0.0029) categories were significantly more likely to visit only the pediatric dentistry department than other departments.

3. Dental treatment methods and modalities by rare disease classification

During dental clinic visits, patients’ chief complaints were most commonly caries (34.85%), followed by examination (19.17%), orthodontic treatment (15.55%), and trauma (10.21%, Fig. 2). Note that if a single patient had multiple chief complaints, each complaint was counted separately. These varied chief complaints reflect the diverse dental care needs of pediatric patients with rare diseases, which in turn influences the methods of dental treatment employed. Similarly, if multiple methods of dental treatment were used for a single patient, each method was counted individually.

Fig 2.

The number of cases by chief complaints.

Intramuscular sedation with midazolam led to a significant difference in the NER group, where 3.50% of patients received this treatment (p= 0.0450). The CON group also showed a notable percentage of intramuscular sedation use (3.84%), which was significant (p= 0.0157). The use of outpatient general anesthesia varied across categories, with the highest usage in the CON group (7.49%), and significant differences were observed in this group (p= 0.0315, Fig. 3). No significant differences in the number of inpatient and outpatient general anesthesia procedures were recorded across the rare disease classifications.

Fig 3.

Distribution of dental treatment methods according to rare disease classification.

Non-sedation dental care included cases with or without protective stabilization. Inhalation sedation involved the use of nitrous oxide gas. For intramuscular sedation with midazolam, nitrous oxide gas was administered as an adjunct.

BLO: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism; END: Endocrine, nutritional, and metabolic diseases; NER: Diseases of the nervous system; CIR: Diseases of the circulatory system; CON: Congenital malformations, deformations, and chromosomal abnormalities; Etc.: et cetera; GA: general anesthesia.

For the distribution of dental treatment modalities by rare disease classification (Table 2), it can be interpreted that ‘patients classified under a specific rare disease category have a significantly higher frequency of receiving the corresponding dental modalities compared to those who do not receive these modalities.’ The END group exhibits a significantly higher frequency of undergoing examination and receiving prophylactic treatments (p= 0.0060) and primary tooth extraction (p= 0.0157) compared to cases where these treatments are not received. The NER group was significantly less likely to receive sealant (p= 0.0062), composite restoration (p= 0.0171), and surgical treatments (p= 0.0318). The NER and CIR groups were significantly less likely to receive orthodontic treatments, including removable appliances (general orthodontic treatments, p < 0.00001 for NER; p= 0.0113 for CIR; orthodontic treatments with removable appliances, p= 0.0003 for NER; p= 0.0485 for CIR). The CON group was significantly more likely to receive stainless-steel crown restorations (p= 0.0118). The likelihood of receiving stainless-steel crown restorations (p= 0.0118) and undergoing surgical treatments (p= 0.0234) was significantly higher in the CON group. Although there was no statistical significance, the CON group received the most orthodontic treatment. The CON group includes various diseases, with atresia of bile ducts and congenital aortic stenosis being the conditions that mainly received fixed orthodontic treatment.

Table 2.

Distribution of dental treatment modalities by rare disease classification

4. Simple logistic regression by rare disease classification

The logistic regression analysis revealed several significant associations among patient characteristics, rare disease classifications, and dental treatments (Table 3). Female patients were significantly less likely to be diagnosed with END than male patients (odds ratio (OR), 0.68, p= 0.0326). Furthermore, increasing age was associated with a reduced likelihood of receiving dental treatment in the NER group (OR, 0.93, p= 0.0263). The NER group had a notably higher likelihood of having a disability (OR, 4.25, p < 0.00001), whereas the END (OR, 0.68, p= 0.0439) or BLO (OR, 0.41, p= 0.0003) group was less likely to have a disability. In terms of departmental visits, the NER group was significantly less likely to visit departments other than pediatric dentistry (OR, 0.33, p= 0.0008). Conversely, the CON group was more likely to receive treatment in other departments besides pediatric dentistry (OR 1.84, p= 0.0032).

Table 3.

Simple logistic regression by rare disease classification

The use of intramuscular sedation was significantly higher in the NER (OR, 1.40, p= 0.0451) and CON (OR, 2.97, p= 0.0209) groups. In addition, the CON group was significantly more likely to receive outpatient general anesthesia (OR, 1.85, p= 0.0337).

In terms of specific dental procedures, sealants were significantly less likely to be applied in the NER group (OR, 0.59, p= 0.0066). Similarly, composite restoration was less frequently used in this group (OR, 0.66, p= 0.0175). The use of stainless-steel crowns was significantly more common in the CON group (OR, 1.45, p= 0.0120). Surgical treatment was less likely to be performed on the NER group (OR, 0.56, p= 0.0337), whereas the CON group was more likely to undergo surgical procedures (OR, 1.56, p= 0.0241). Finally, orthodontic treatment with removable appliances was significantly less likely provided in the NER group (OR, 0.21, p= 0.0009).

Discussion

This study explored the dental treatment patterns in pediatric patients with rare diseases who visited Yonsei University Dental Hospital in 3 years. The findings show notable differences in dental care needs and treatment approaches among the rare disease classifications, highlighting the importance of understanding and addressing the specific needs of these patients.

The demographic analysis highlighted a predominance of congenital malformations among the study population, reflecting the higher prevalence of these conditions in pediatric patients. This finding aligns with previous reports that congenital malformations are a major contributor to the overall burden of rare diseases in children[17,27,37]. These patients face numerous dental challenges, including a high prevalence of malocclusion caused by abnormal maxillofacial growth or underdeveloped jaws[8,27]. Furthermore, the incidence of dental developmental anomalies such as congenital tooth agenesis and enamel hypoplasia increased, coupled with an increased occurrence of xerostomia, which further complicates oral health[9,38,39].

The NER group was more likely to present with disabilities (autism, brain lesions, intellectual disabilities, and mental disorders), which is consistent with the complex neurological and cognitive challenges associated with these conditions. This finding indicates that these patients are likely to demonstrate lower cooperation levels during dental procedures, highlighting the need for specialized approaches to effectively manage their dental care[40,41]. Children with intellectual disabilities, executive function disorders, and learning disabilities often struggle to maintain adequate oral hygiene[13,17]. This difficulty, combined with the complexity of their care needs, leads to a heightened susceptibility to dental caries and a higher prevalence of multiple carious lesions[12]. Caregivers also experience significant challenges in managing the oral hygiene of these children, which exacerbates the problem[19,42]. These findings highlight the critical need for integrated care approaches that consider the cognitive and developmental limitations of these patients. Conversely, the END and BLO groups were less likely to have disabilities, indicating that these conditions might not directly impair cognitive and motor functions as severely as NER conditions do.

For the reasons outlined above, patients with rare diseases often require personalized dental care. Oral care provided by dentists includes reviewing the patient’s medical history, conducting an intraoral examination, and offering professional dental treatments such as scaling, plaque control, fluoride application, tongue coating removal, denture care, and managing intraoral wounds and stomatitis[20,21]. In addition to these procedures, an understanding of each rare disease and additional considerations are essential. For example, epilepsy, which represents a large portion of the patient population, requires not only a basic understanding of the classification and clinical presentation of different seizure types but also knowledge of the pharmacotherapy and nonpharmacological treatments (such as vagus nerve stimulation, surgery, and ketogenic diet)[43] that patients may be receiving. In treating epileptic patients, it is essential to carefully manage soft tissue side effects caused by medications and to address potential oral trauma that may occur during seizures. To reduce the likelihood of seizures during treatment, minimizing stress and anxiety during the appointment is crucial, as is providing eye protection to block light that could trigger an epileptic seizure[43,44]. Dentists must always be prepared to handle a seizure should it occur during treatment. In some cases, conscious sedation or general anesthesia may not be contraindicated in patients with epilepsy[45]. As seen in this case, comprehensive insights into each condition and tailored treatment planning are essential in providing dental care for patients with rare diseases.

The NER group was significantly more likely to visit only the pediatric dentistry department, whereas the CON group had a significantly higher frequency of visits to both pediatric dentistry and other departments. This may be attributed to the lower levels of cooperation among patients with NER, making it challenging for them to receive care in multiple departments[46,47]. On the contrary, the CON group often requires additional treatments from other specialties, such as surgery and orthodontics, owing to their structural defects. This highlights the necessity for a multidisciplinary approach in managing the comprehensive dental and medical needs of the CON group[19,48].

The study also demonstrated that the NER and CON groups had significantly different treatment patterns from those with other categories. For instance, intramuscular sedation and outpatient general anesthesia were notably highly used in the CON group, indicating a greater need for intensive sedation and anesthesia management in these patients[3,49-51]. Intramuscular sedation was primarily used to induce a sedated state to reduce patient anxiety or fear during dental treatment[52,53]. It was typically employed in cases where patient cooperation was poor or general anesthesia was not feasible, particularly for short procedures or emergency treatments. The increased use of outpatient general anesthesia can be attributed to the complex dental and medical needs associated with congenital malformations, such as severe seizure disorders, significant behavioral and cognitive impairments leading to poor cooperation, and circulatory abnormalities requiring precise blood pressure management[33,34,37]. Additionally, these patients often face challenges that make routine treatments difficult, necessitating more extensive and invasive procedures[37].

The study findings demonstrated that dental treatment modalities varied significantly among disease categories. For instance, the NER group was less likely to receive preventive or direct restorative treatments such as sealants and composite restoration because of difficulties in patient cooperation and behavioral management. This aligns with the higher prevalence of disabilities in this group, which can pose significant challenges in routine dental care. Additionally, the NER group faces significant challenges with oral hygiene management[13,17] and is prone to dental caries[12]. Therefore, there may be instances where patients are already affected by caries before receiving preventive care[12,13], and high caries prevalence might lead to exclusion from orthodontic treatment indications.

Interestingly, the CON group was more likely to receive extensive dental treatments such as stainless-steel crowns and surgical procedures. This reflects the complex dental needs of these patients, who often present with structural anomalies in the oral and maxillofacial regions, necessitating more durable and invasive treatment options[6,27,37]. Moreover, the frequent use of outpatient general anesthesia in the CON group highlights the need for intensive sedation and anesthesia management, owing to the increased complexity and invasiveness of their required dental procedures.

Although there is a growing demand for orthodontic treatment among patients with rare diseases, applying standard practices remains challenging due to the complexity of their conditions. While the CON group received the most orthodontic treatments, statistical significance was not observed, with specific conditions like atresia of bile ducts and congenital aortic stenosis being more likely to receive fixed orthodontic treatment. In contrast, the NER and CIR groups were significantly less likely to undergo orthodontic treatments, particularly those involving removable appliances. Literature highlights the unique challenges in treating these patients, who exhibit higher rates of dental-skeletal abnormalities, such as dental agenesis, microdontia, maxillary hypoplasia, and oromotor dysfunctions[17,54]. These issues often necessitate longer treatment periods and the use of both fixed and removable appliances, which complicates planning[55]. Additionally, complications like gingivitis, mucosal ulcers, and appliance failure are common and require careful management. High rates of oromotor dysfunctions, such as atypical swallowing and mouth breathing, further complicate treatment, increasing the need for desensitization sessions and more frequent adjustments[55]. To address these challenges, dentists may consider durable appliances, behavioral management techniques, and more frequent follow-ups. Non-invasive interventions like interceptive treatments or clear aligners may also reduce the risks associated with traditional orthodontic appliances.

Although this study provides important insights into the dental care needs of pediatric patients with rare diseases, several limitations should be acknowledged. First, the retrospective design and reliance on EMRs may have introduced biases, particularly in patients with multiple rare diseases, making it challenging to accurately assess the primary factors that influence dental treatment difficulties. Additionally, precise information regarding the specific treatments for each tooth, as well as the number and qualifications of the dentists providing care, was not available. While a total of 14 pediatric dentistry specialists (7 professors and 7 fellows) and 70 general dentists (residents) treated the patients, the exact allocation of dental treatments to these professionals could not be determined. Furthermore, this study lacked a control group of patients without rare diseases, limiting the ability to generalize the findings to the broader pediatric population. The single-institution setting also limits the generalizability of the findings to other settings, and there may be a potential bias related to patient residence, as many patients reside near the institution, potentially affecting the results. This study did not analyze the annual visit frequency or the number of treated teeth per patient, which could provide a more detailed understanding of dental treatment patterns. In future research, we plan to investigate these factors, along with associated treatment costs, to conduct a socioeconomic analysis of dental treatments for patients with rare diseases. Despite these limitations, the study’s strength lies in its substantial data collection from over 700 patients, providing a considerable level of reliability. The single-institution setting also offered the advantage of easy access to and verification of medical records, ensuring accurate and comprehensive data. Additionally, this study is one of the first to focus on dental treatments for pediatric patients with rare diseases in Korea, underscoring its originality and significance.

The study findings offer valuable insights into the dental care needs and challenges faced by this vulnerable population, contributing to the development of more effective and tailored treatment strategies. Future studies, including larger, multicenter studies, are warranted to confirm these findings and explore the effectiveness of different dental treatment strategies for pediatric patients with rare diseases. In addition, tailored dental care protocols that address the specific challenges posed by each rare disease category are needed, with a focus on improving patient cooperation, optimizing anesthesia management, and enhancing the overall quality of life for this patient population.

Conclusion

This study underscores the critical importance of individualized dental care approaches for pediatric patients with rare diseases. The significant variations in treatment needs across rare disease categories highlight the need for tailored dental care protocols and interdisciplinary collaboration. Addressing the unique challenges these patients face can lead to the enhancement of their oral health outcomes and contribute to their overall health and quality of life. Future studies should focus on developing targeted interventions and care models that address the specific challenges associated with managing rare diseases in pediatric dental settings.

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