Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The purpose of this cross-sectional study of 38 HR patients was to characterize the phenotype of adult HR patients. Moreover, skeletal and endodontic severity scores were defined to assess possible gender differences in disease severity in patients with genetically verified X-linked HR. Compared to normal reference data, i.e., z = 0, HR patients had significantly lower final height, with a mean difference in z-score of -1.9 (95% CI -2.4 to -1.4, P < 0.001). Compared to paired z-scores of final height, z-scores of leg length were significantly lower and those of sitting height were significantly higher (P < 0.001), resulting in disproportion as indicated by the significantly elevated sitting height ratio, mean difference in z-score of 2.6 (95% CI 2.1-3.1, P < 0.001). Z-scores of head circumference (median 1.4, range -0.4 to 5.5, P < 0.001) and z-scores of bone mineral density (BMD) of the lumbar spine (median 1.9, range -1.5 to 8.6, P < 0.001) were significantly elevated compared to normal reference data. The relative risk (RR) of fracture was reduced (RR = 0.34, 95% CI 0.20-0.57, P < 0.001). The skeletal severity score tended to be higher in males compared to females (P = 0.07), and no gender difference in endodontic severity was found. In conclusion, adult HR patients were characterized by short stature and were disproportioned. They had elevated BMD of the lumbar spine and a reduced risk of fractures. We found a tendency for males to be more severely affected than females.

BackgroundThe Child Perceptions Questionnaire (CPQ) is a self-reported questionnaire developed to measure oral health-related quality of life in children. The CPQ aims to improve the description of children's oral health, while taking into consideration the importance of psychological aspects in the concept of health. The CPQ exists in two versions: the CPQ8–10 for children aged 8–10 years and the CPQ11–14 for those aged 11–14 years. The aim of this study was to develop a Danish version of the CPQ8–10 and the CPQ11–14 and to evaluate its validity for use among Danish-speaking children.MethodsThe instruments were translated from English into Danish in accordance with a recommended translation procedure. Afterwards, they were tested among children aged 8–10 (n = 120) and 11–14 years (n = 225). The validity was expressed by the correlation between overall CPQ scores and i) self-reported assessment of the influence of oral conditions on everyday life (not at all, very little, some, a lot, very much) and ii) the self-reported rating of oral health. Furthermore, groups of children with assumed decreased oral health-related quality of life were compared with children with healthy oral conditions. Finally, we examined the internal consistency.ResultsThe correlation between overall CPQ scores and global assessments of the influence of oral conditions on everyday life showed Spearman correlation coefficients of 0.45, P < 0.001 for CPQ8–10 and 0.50, P < 0.001 for CPQ11–14. The correlation between overall CPQ scores and the self-reported rating of oral health showed Spearman correlation coefficients of 0.45, P < 0.001 for CPQ8–10 and 0.17, P = 0.010 for CPQ11–14.The median overall CPQ8–10 scores were 7 for individuals with healthy oral conditions, 5 for individuals with cleft lip and palate, and 15 for individuals with rare oral diseases. The median overall CPQ11–14 scores were 9 for individuals with healthy oral conditions, 9 for individuals with cleft lip and palate, 17.0 for individuals with rare oral diseases, and 22.0 for individuals with fixed orthodontic appliances. There were statistically significant differences between the groups of children with healthy oral conditions and each of the subgroups, except for children with cleft lip and palate.Chronbach'α were 0.82 for CPQ8–10 and 0.87 for CPQ11–14.ConclusionThe results of this study reveal that the Danish CPQ8–10 and CPQ11–14, seem to be valid instruments for measuring oral health-related quality of life in children although its ability to discriminate between children with cleft lip and palate and healthy children seem to be limited.

A number of aberrations associated with AI have been reported, but not sufficiently systematic to allow for a secondary analysis and synthesis of the findings. The impact on patients in terms of reduced quality of life and economic burden needs to be studied.

No abstract

BackgroundTo report on dental characteristics and treatment load in Danish adult patients with osteogenesis imperfecta (OI).MethodsOral examination of 73 patients with OI was performed and OI type I, III, and IV were represented by 75.3%, 8.2%, and 16.4%, respectively. Patients were diagnosed as having dentinogenesis imperfecta (DI) if they had clinical and radiological signs of DI. In the data analysis, mild OI (type I) was compared to moderate-severe OI (type III and IV).ResultsDiscoloration of teeth was prevalent in patients with moderate-severe compared to mild OI (83.3% vs. 5.5%, p < 0.001). Cervical constriction and pulpal obliteration were frequent findings in patients with moderate-severe OI (61.1% and 88.9%, respectively), whereas pulp stones and taurodontism were diagnosed in patients with mild OI only (29.1% and 9.1%, respectively). DI was found in 24.7% of OI patients and considerably more frequent in patients with moderate-severe (94.4%) compared to mild OI (1.8%) (p < 0.001). The number of teeth with artificial crowns was significantly higher in patients with moderate-severe OI than in patients with mild OI (median 1.5, range 0–23 vs. median 0, range 0–14) (p < 0.001). The number of teeth with fillings in patients with mild OI was significantly higher than in patients with moderate-severe OI (mean 9.7, SD 5.1, median 9.0, range 1–21 vs. mean 5.0, SD 4.4, median 4.0, range 0–16) (p < 0.001).ConclusionsOne fourth of patients with OI had DI, and the vast majority of them had moderate-severe OI. Whereas discoloration of teeth, cervical constriction and pulp obliteration were frequent findings in patients with moderate-severe OI, pulp stones and taurodontism were found in patients with mild OI only. In patients with moderate-severe OI, the dental treatment load was dominated by prosthetic treatment, whereas restorative treatment with fillings was more prevalent in patients with mild OI.

Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.

Hypophosphatemic rickets (HR) is a rare hereditary disease in which dental problems in terms of spontaneous periapical infections are frequently reported. Most previous reports have been based on a small number of HR patients and have been published before the disease could be confirmed genetically. The aim of the present study was to describe the periapical and endodontic status of permanent teeth in patients with genetically and/or biochemically confirmed HR. The patients were recruited from a medical study on HR patients. The patients underwent a dental examination including a digital panoramic radiograph, which was scored for endodontically affected teeth (i.e. teeth with periapical radiolucencies and/or endodontically treated teeth). A total of 52 patients (age range: 5·7-74·5 years; 17 males and 35 females) were included. HR patients were characterised by a high number of endodontically affected teeth (mean: 4·2; s.d.: 5·0). The number of affected teeth rose significantly with age (P < 0·01), and no statistically significant gender difference was found. The relative distribution of endodontically affected teeth in the three tooth groups (incisors and canines, premolars, and molars) varied according to age. In the youngest age group, only incisors and canines were affected, while the relative proportion of affected premolars and molars increased with age. Endodontically affected teeth are common in HR patients, and the number of affected teeth increased significantly with age. Hence, the need for endodontic treatment among HR patients is comprehensive.

BackgroundInfant Oral Mutilation (IOM) includes germectomy and early extraction of primary and permanent incisors and canines, primarily in the lower jaw.The aim of the present study was to examine the prevalence and impact of IOM, involving the removal of mandibular permanent incisors and/or canines, on dental occlusion and Oral Health-Related Quality of Life (OHRQoL) among Kenyan adolescents from Maasai Mara.MethodsIn a cross-sectional study, 284 adolescents (14–18 yrs. of age) participated in an oral examination and an interview, using a structured questionnaire on age, gender, medical history, and IOM practice. For the analysis of the dental occlusion, participants with IOM, in terms of absence of two or more permanent teeth in the mandibular incisor and/or canine tooth segments (IOM group), were compared to participants who had all six incisors and canines present in the oral cavity (control group). OHRQoL was assessed using child perception questionnaire (CPQ11–14).ResultsThe majority of the participants (61%) had been exposed to IOM, among whom 164 (95%) had absence of two mandibular central incisors. More individuals in the IOM group had maxillary overjet exceeding 5 mm than in the control group (50.9% vs. 20%, p <  0.001). Nineteen (11%) subjects in the IOM group had mesial occlusion in contrast to none in the control group (p <  0.001). The mean and median total CPQ scores and the mean and median CPQ domain scores were low in both groups with no significant differences between the groups.ConclusionsApproximately two-thirds of the study population presented with IOM, with the majority of them missing two mandibular permanent central incisors. Although some participants with IOM had substantial maxillary overjet and mesial occlusion, only few of them showed substantial effect on their OHRQoL.