Professional dental care, as well as home care, provided to patients with the genetic syndromes analyzed in the above study, is difficult in many cases due to intellectual disability, behavioral or movement disorders. Patients with SLOS are characterized by hyperactivity, autoimmune behavior, sleep disorders and autism spectrum disorders [18]. In SRS, motor and cognitive developmental delays and learning disabilities are often observed [19]. Patients with PWS have behavioral problems, with outbursts of anger and aggression, obsessive-compulsive behavior, and a tendency to be argumentative, oppositional and stubborn are often observed [7]. The psychomotor, speech and intellectual development of patients with PWS is delayed to varying degrees [20]. The Down syndrome phenotype includes moderate to severe mental retardation[10, 11]. Patients with DS are often at risk of developing anxiety disorders, epilepsy, hearing and vision problems [4]. Angelman syndrome is characterized by developmental delay or mental retardation, severe speech abnormalities, gait ataxia and/or limb tremors, and exceptional seemingly joyful behavior (frequent laughter, smiling and excitability) [21]. These disorders make it difficult to perform hygienic procedures with the patient at home, and dental care is sometimes limited to emergency acute care and further treatment under general anesthesia [12, 13, 22]. Depending on the patient's cognitive ability and cooperation, professional preventive and even curative interventions are possible, and most importantly, parental education in oral hygiene care, proper nutrition and hydration [23, 24].
Phenotypic features of the syndromes pertaining to the craniofacial region, such as signs of facial dysmorphia, hypo- or hypertonia of muscles, cleft palate, and developmental abnormalities of the dentition, can also be a problem. Among anatomical abnormalities of SLOS, researchers describe the presence of a gothic palate, macroglossia, cleft palate, wide alveolar processes and dental abnormalities such enamel developmental defects. Crowding, retrognathism and open bite are frequently observed, which predisposes to hygienic neglect, generalized gingivitis and advanced tooth decay [8, 17, 25]. The occlusal and developmental abnormalities of the dentition (abnormal morphological structure, mineralization defects) observed in SRS are likely to promote bacterial plaque retention and increase the risk of dental caries and gingivitis [26, 27]. Accumulation of the biofilm can also be increased by impaired oral self-cleaning mechanism. Wakeling et al. [28] report that muscular hypotonia is characteristic for children with SRS. This can be accompanied by the reduction in the size of the tongue and low amount of resting saliva with a foamy or stringy consistency which increases susceptibility to caries development.
The literature draws attention to the less frequent use of dental care among patients with intellectual disabilities and the underutilization of professional preventive care. The authors note that despite the high prevalence of caries disease in people with disabilities, the rate of dental treatment in this group is low [15, 29].
In the presented study, a statistically significantly higher percentage of caregivers of patients with genetic syndromes confirmed the lack of use of dental care (29.16% vs. 8.24% in the control group). It was also observed that significantly fewer people with genetic syndromes had professional preventive dental procedures performed. Peinado et al [30] conducted a study in which they assessed the treatment needs of patients with mental disabilities (including patients with Down syndrome). Dental treatment included more than 85% of children with disabilities, a significantly better result compared to our study. Both therapeutic and preventive procedures were performed on the children [30]. In the study conducted, dental treatment under general anesthesia was common. The frequent need to treat patients with mental disabilities under general anesthesia has also been pointed out by other authors [31, 32]. Özkan et al. [31] indicate that intellectually disabled patients accounted for 38.9% of patients treated under general anesthesia in their unit.
Difficulties in finding a practitioner who would take care of a patient with a diagnosed genetic syndrome and often a lack of professional prophylaxis qualify this group of patients as patients at risk of developing caries disease. Of concern is the fact that 13% of respondents did not have adequate knowledge of treatment options for a child with a disability, as well as resignations due to concerns about the child's health without talking to an anesthesiologist. Anesthesia provides optimal conditions for dental treatment for special needs. An individualized anesthetic plan, management and teamwork between the dentist and anesthesiologist are crucial [32].
Patients with SRS appear to be the most dentally well-maintained group. However, even in this group, statistically significantly fewer patients brush their teeth twice a day compared to the control group (84% vs. 50%). Nearly 80% of patients in this study group do not use additional oral hygiene products, and half of them do not use professional caries prophylaxis, although this is particularly important in this group. The systemic abnormalities present in SRS, among others, eating disorders (lack of feeling of hunger until about 3 years of age) and incidents of paroxysmal hypoglycemia, forcing frequent and regular feeding of high-calorie foods, including at night, combined with negligence of hygiene and prophylaxis can result in acute caries [28, 33].
In patients with PWS, the development of caries can be strongly influenced by unfavorable physico-chemical parameters of saliva, hypotonia of the orbicularis oris muscle, dietary errors related to excessive appetite, as well as the gastroesophageal reflux [7]. In the above study, 24% of patients with PWS had dental treatment under general anesthesia, which unfortunately can carry complications Ritvik et al.[34] report that prolonged recovery from general anesthesia, obstructive sleep apnea, and temperature dysregulation necessitate extended monitoring after dental rehabilitation under general anesthesia. Patients who cooperate with dentists can be treated using local anesthesia, including orthodontic treatment [12]. Dental prophylaxis is necessary due to poor oral hygiene and neglect. Early establishment of proper home habits and regular dental care should address caries prevention and restorative needs [34].
Unfavorable hygiene behaviors were observed in Down syndrome. Teeth brushing was performed twice a day by 52% of the subject, the others only once a day. The percentage of patients receiving dental care is the highest among the syndromes evaluated, however, only 70% of children under dental care had their teeth varnished. In a study by Rodriguez Peinado et al. [30], professional varnishing procedures were performed in 60% of subjects, which is similar value. Fissure sealants were performed in about 50% of patients in the permanent dentition, compared to 4% of the patients we studied. One in five of the DS patients surveyed didn’t receive dental care at all due to lack of cooperation during oral procedures. Meanwhile, there are a number of factors that contribute to caries in DS, including intellectual disability, muscular hypotonia, the presence of gastrointestinal disorders (gastroesophageal reflux, celiac disease, feeding difficulties in infancy), resulting in malabsorption and nutritional deficiencies, affecting the formation of dental hard tissues. Vomiting causes changes in the oral ecosystem and an increases the acidity of saliva that promotes erosive lesions and carious disease [35].
Of particular concern is the neglect of prevention and treatment in SLOS and AS. 73.33% of SLOS and 71.42% of AS brush their teeth once a day or not at all. Certainly, the child's lack of cooperation and severe oral hypersensitivity is a major obstacle to performing hygiene procedures [8, 29]. The condition requires caregivers to be extremely patient and motivated to perform oral hygiene procedures for their children. Caregivers of patients with SLOS also noted the difficulty in finding a dentist willing to take on their child's dental care. The survey results showed that almost half of those with SLOS and 20% with AS do not receive dental care due to lack of cooperation or lack of information about the possibility of dental procedures. At the same time, no patient with SLOS or AS who received dental care underwent preventive treatments. As many as 75% of children receiving dental care with SLO and all with AS were treated under general anesthesia. Gallo et al. [36] confirm the necessity of treating AS patients under general anesthesia due to lack of cooperation.
One of the limitations of the survey is the relatively small number of people surveyed. This is related to the small number of patients with genetic syndromes who report for treatment. Another limitations are connected with questionnaire research challenges. When using the questionnaire in survey research there can be the tendency that some respondents misinterpret the questions. In some cases it is extremely difficult to formulate a series of questions whose meaning are clear to every respondent. Also, it happens to suggest an answer by phrasing the question incorrectly.