Abstract
Relevance. Understanding the impact of oral health problems on the quality of life in children with rare metabolic disorders that affect mineral metabolism is critically important.Materials and methods. An oral health assessment was conducted on 59 children aged 6 to 17 years with rare diseases affecting mineral metabolism, each with a genetically confirmed diagnosis. The children were divided into two study groups: the first group (24 children) comprised those with bone mineralization disorders (hypophosphatemic rickets, hypophosphatasia), while the second group (35 children) included those with disorders of bone and cartilage formation (osteogenesis imperfecta, Marfan syndrome, achondroplasia, etc.). The clinical condition of the children's dental tissues was assessed by evaluating oral hygiene levels and caries intensity in permanent teeth, using the OHI-S and DMFT indices, respectively. The pufa/PUFA index was used to document complications arising from dental caries. To assess the perception of oral health problems, a survey was administered to parents and legal guardians using the Oral Health-Related Quality of Life (OHRQoL) questionnaire.Results. The average DMFT and OHI-S index values did not show statistically significant differences, with values of 4.26 ± 0.28 and 1.96 ± 0.15 in the first group, and 3.76 ± 0.40 and 1.75 ± 0.10 in the second group, respectively. However, the mean pufa/PUFA index values were significantly higher in children with bone and cartilage formation disorders (p = 0.003), being three times greater than those in the group with bone mineralization disorders, with values of 1.03 ± 0.18 and 0.30 ± 0.11, respectively. This increase was associated with higher correlation coefficients between the DMFT and PUFA indices and the modules for physical discomfort, oral functional status, and emotional well-being, with values of 0.38 and 0.41, and 0.49 and 0.27, compared to 0.07 and 0.02, and 0.29 and -0.21 in the first group. These differences were statistically significant at p < 0.05 and p < 0.005.Conclusion. The study revealed that existing oral health conditions have the greatest impact on the quality of life in children with rare diseases affecting bone and cartilage formation.
Published Version
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