Biology subjects

Retrouvey, J.-M.

Publications and source records attributed to Retrouvey, J.-M..

3 recordsLinked to original sources

bioRxiv2018

Caries Prevalence and Experience in Individuals with Osteogenesis Imperfecta

ObjectiveDentinogenesis Imperfecta (DI) forms a group of dental abnormalities frequently found associated with Osteogenesis Imperfecta (OI), a hereditary disease characterized by bone fragility. The objectives of this study was to quantify the caries experience among different OI-types and quantify how these values change due to DI. MethodsTo determine which clinical characteristics were associated with increased CPE in patients with OI, the adjusted DFT scores were used to account for frequent hypodontia, impacted teeth and retained teeth in OI population. ResultsThe stepwise regression analysis while controlling for all other variables demonstrated the presence of DI (OR 2.43; CI 1.37 to 4.32; p=0.002) as the significant independent predictor of CPE in the final model. ConclusionThis study found no evidence that CPE of OI subjects differs between the types of OI. The presence of DI when controlled for other factors was found to be the significant predictor of CPE.

epidemiology↗

bioRxiv2018

Oral Health-Related Quality of Life in Children and Adolescents with Osteogenesis Imperfecta: cross-sectional study

BackgroundOsteogenesis imperfecta (OI) affects dental and craniofacial development and may therefore impair Oral Health-Related Quality of Life (OHRQoL). However, little is known about OHRQoL in children and adolescents with OI. The aim of this study was to explore the influence of OI severity on oral health-related quality of life in children and adolescents.\n\nMethodsChildren and adolescents aged 8-14 years were recruited in the context of a multicenter longitudinal study (Brittle Bone Disease Consortium) that enrolls individuals with OI in 10 centers across North America. OHRQoL was assessed using the Child Perceptions Questionnaire (CPQ) versions for 8 to 10-year-olds (CPQ8-10) and for 11 to 14-year-olds (CPQ11-14).\n\nResultsA total of 138 children and adolescents (62% girls) diagnosed with OI types I, III, IV, V and VI (n=65, 30, 37, 4 and 2, respectively) participated in the study. CPQ8-10 scores were similar between OI types in children aged 8 to 10 years. In the 11 to 14-year-old group, CPQ11-14-scores were significantly higher (i.e. worse) for OI types III (24.7 [SD 12.5]) and IV (23.1 [SD 14.8]) than for OI type I (16.5 [SD 12.8]) (P<0.05). The difference between OI types was due to the association between OI types and the functional limitations domain, as OI types III and IV were associated with significantly higher grade of functional limitations compared to OI type I.\n\nConclusionThe severity of OI impacts OHRQoL in adolescents aged 11 to 14 years, but not in children age 8 to 10 years.

epidemiology↗

bioRxiv2018

Dental and facial characteristics of osteogenesis imperfecta type V

Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C>T mutation in IFITM5. The dental and craniofacial phenotype has not been described in detail. In the present multicenter study (Brittle Bone Disease Consortium) 14 individuals with OI type V (age 3 to 50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range 1 to 9). Class II molar occlusion was present in 8 (57%) of the 14 study participants. The facial profile was retrusive and lower face height was decreased in 8 (57%) individuals. Cephalometry, performed in three study participants, revealed a severely retrusive maxilla and mandible, and poorly angulated incisors in a 14-year old girl, a protrusive maxilla and a retrusive mandible in a 14-year old boy. Cone beam computed tomograpy scans were obtained from two study participants and demonstrated intervertebral disc calcification at the C2-C3 level in one individual. Our study observed that OI type V is associated with missing permanent teeth, especially permanent premolar, but not with dentinogenesis imperfecta. The pattern of craniofacial abnormalities in OI type V thus differs from that in other severe OI types, such as OI type III and IV, and could be described as a bimaxillary retrusive malocclusion with reduced lower face height and multiple missing teeth.

genetics↗