Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network 'TÊTECOU' and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions

Rare diseases and referral centers

Rare diseases represent a major public health challenge due to their number, presently estimated to be between 6000 and 8000, their severity and the absence of any preventive treatment. The enactment of two National Plans for Rare Diseases by the establishment of Referral Centers and Diagnosis and Treatment Centers has brought about a recognition of the specificity of these disorders, the creation of a epidemiological database, a framework for rapid diagnosis protocols at the first symptoms, greater access to specialized care to accompany the afflicted and their families during their frequently difficult medico-social journey, training of skilled health professionals in the field of these rare diseases, promotion of basic and clinical research and finally the development of European partnerships in both research and therapeutic planning

Translation and validation of the French version of the Child Perceptions Questionnaire for children aged from 8 to 10 years old (CPQ 8-10)

Abstract Background The Child Perceptions Questionnaire (CPQ) belongs to a set of questionnaires measuring Child Oral Health Quality of Life (COHQOL). The CPQ is used to collect the perceptions of children on the impact of oral diseases on their quality of life. This cross-sectional study was aimed to translate the CPQ8-10 into French language and evaluate its psychometric properties. Methods The translation process complied with international recommendations. The final French version was tested on children aged 8-10 years old attending consultations in a Parisian public hospital and divided into three groups: children with oral-facial clefts, children with dental anomalies linked to a rare disease other than clefts and children presumed to be healthy and without anomalies. The internal consistency relating to the reliability of CPQ8-10 was evaluated by Cronbach’s alpha. The intra-class correlation was used to measure reproducibility at the test-retest level. Construct validity was evaluated by Spearman’s correlation and tested using factor analysis. The discriminant validity was assessed using Kruskall Wallis test. Criterion validity was calculated using Spearman’s correlation. Results One hundred seventy-six children participated in this study. During the translation process, minor changes were made. The French version showed good reliability with a Cronbach’s alpha of 0.81 for the total scale. The ICC of the test-retest was excellent (=0.90) demonstrating good reproducibility. The construct validity was acceptable with a statistically significant correlation between the scores of the French-CPQ8-10 and the evaluation of oral health (r = 0. 381 and p < 0.001) and its impact on oral health quality of life (r = 0.363 and p < 0.001). The loading weights obtained in the Exploratory Factor Analysis showed that this model revealed seven factors with eigenvalue greater than 1, explaining the 63,89% of the cumulative variance. The differences observed between the scores of the study groups revealed good discriminant validity. Criterion validity was supported by significant association between CPQ scores and pain. Conclusion The French-CPQ8-10 is reliable and valid for use with the children of this age group

Additional file 1: of Translation and validation of the French version of the Child Perceptions Questionnaire for children aged from 8 to 10 years old (CPQ 8-10)

Final french version of the (CPQ 8-10) questionnaire. (DOC 73 kb

Translation and cross-cultural validation of the French version of the Sleep-Related Breathing Disorder scale of the Pediatric Sleep Questionnaire

International audienceBackground: Sleep-disordered breathing (SDB), including obstructive sleep apnea syndrome, is often underestimated because it requires a burdensome test (ie, polysomnography) to ensure diagnosis. To improve polysomnography referral, it is of utmost importance to validate efficient alternative screening tools. This study aimed to provide a translation and a cross-cultural validation of the Pediatric Sleep Questionnaire (PSQ) into French to obtain an easy-to-use and reliable screening tool. The psychometric properties of the French version were also determined.Methods: The process of cross-cultural adaptation was carried out following these steps: forward-backward translation, evaluation by an expert committee, and pretesting of the pre-final version. Reliability of the French-PSQ version was assessed by Cronbach's alpha coefficients and Spearman's correlation on a convenient sample of 201 children (aged between 2 and 17 years). Construct validity was determined by factor analysis of principal components.Results: Internal consistency was within an adequate range for all subscales: 0.711 for snoring, 0.559 for sleepiness, 0.682 for behavioral problems, and 0.776 for the whole questionnaire. Spearman's correlation analysis comparing questionnaires administered two weeks apart showed good correlation coefficients for all subscales (snoring: 0.642, sleepiness: 0.846, behavioral problems: 0.780, and entire SRBD scale: 0.835). Factor analysis performed to assess the structure of the French-SRBD scale confirmed the same four factors described in the original questionnaire ("breathing," "behavior," "sleepiness," and "other").Conclusion: The French version of the PSQ has been successfully cross-culturally adapted and showed good psychometric properties, suggesting that it is useful as a tool to screen sleep-disordered breathing in French-speaking children

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network “TÊTECOU” and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions