Translation and validation of the French version of the child perceptions questionnaire for children aged 11 to 14 years old (CPQ11-14) short-form.

OBJECTIVES: The COHQoL is a set of questionnaires used to evaluate the impact of oral health on children's quality of life. Although the CPQ8-10 and the P-CPQ have been translated and validated in French, the CPQ11-14 14 has not yet been validated. The aim was to develop a French version of the CPQ11-14 16-items. MATERIALS AND METHODS: The French version of CPQ11-14 was obtained by a forward-backward translation process and pretested. The final version was tested on children aged 11-14 and divided into three groups: children with orofacial clefts, children with rare dental diseases other than clefts, and children without anomalies. We conducted a cross-sectional study and evaluated the reliability with test-retest and internal consistency, and the questionnaire validity with construct validity and discriminant validity. We performed an Exploratory Factory Analysis (EFA). RESULTS: 187 children tested the questionnaire. The ICC of the test-retest was 0.76 and the Cronbach's alpha was 0.77. The correlation between the CPQ11-14 and self-assessment of oral health and general well-being was > 0.2. Patients with orofacial clefts and rare diseases had significantly higher scores for overall short-form CPQ11-14. The EFA revealed six factors. CONCLUSION: The French CPQ11-14 is valid to assess the impact of oral health on children's quality of life. CLINICAL RELEVANCE: The translation of this questionnaire into French will enable us to assess the impact of oral health on the quality of life of adolescents. This questionnaire complements the 8-10 years version of the CPQ, as well as the parental version that can be used in conjunction with the questionnaire.

Root resorptions induced by genetic disorders: A systematic review.

OBJECTIVES: Root resorption in permanent teeth is a common pathological process that often follows dental trauma or orthodontic treatment. More rarely, root resorption is a feature of genetic disorders and can help with diagnosis. Thus, the present review aims to determine which genetic disorders could induce pathological root resorptions and thus which mutated genes could be associated with them. METHODS: We conducted a systematic review following the PRISMA guidelines. Articles describing root resorptions in patients with genetic disorders were included from PubMed, Embase, Web of Science, and Google Scholar. We synthesized the genetic disorder, the type, severity, and extent of the resorptions, as well as the other systemic and oral symptoms and histological features. RESULTS: The synthetic analysis included 25 studies among 937 identified records. We analyzed 21 case reports, three case series, and one cohort study. Overall, we highlighted 14 different pathologies with described root resorptions. Depending on the pathology, the sites of resorption, their extent, and their severity showed differences. CONCLUSION: With 14 genetic pathologies suspected to induce root resorptions, our findings are significant and enrich a previous classification. Among them, three metabolic disorders, three calcium-phosphorus metabolism disorders, and osteolysis disorders were identified.

[The tooth: A marker of developmental abnormalities]. / La dent : un marqueur d'anomalies génétiques du développement.

Tooth formation results from specific epithelial-mesenchymal interactions, which summarize a number of developmental processes. Tooth anomalies may thus reflect subclinical diseases of the kidney, bone and more broadly of the mineral metabolism, skin or nervous system. Odontogenesis starts from the 3rd week of intrauterine life by the odontogenic orientation of epithelial cells by a first PITX2 signal. The second phase is the acquisition of the number, shape, and position of teeth. It depends on multiple transcription and growth factors (BMP, FGF, SHH, WNT). These ecto-mesenchymal interactions guide cell migration, proliferation, apoptosis and differentiation ending in the formation of the specific dental mineralized tissues. Thus, any alteration will have consequences on the tooth structure or shape. Resulting manifestations will have to be considered in the patient phenotype and the multidisciplinary care, but also may contribute to identify the altered genetic circuity.

Title: La dent : un marqueur d'anomalies génétiques du développement. Abstract: L'odontogenèse résulte d'évènements reflétant de multiples processus impliqués dans le développement : crêtes neurales, interactions épithélio-mésenchymateuses, minéralisation. Les anomalies dentaires sont donc d'excellents marqueurs de l'impact de mutations de gènes qui affectent différents systèmes biologiques, tels que le métabolisme minéral, l'os, le rein, la peau ou le système nerveux. Dans cette revue, nous présentons de façon synthétique les gènes impliqués dans plusieurs maladies rares au travers de défauts des dents caractéristiques, de nombre, de forme et de structure.

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition. Using Next Generation Sequencing (NGS), four novel RELT variants were identified (c.120+1G>A, p.(?); c.120+1G>T, p.(?); c.193T>C, p.(Cys65Arg) and c.1260_1263dup, p.(Arg422Glyfs*5)). Our findings extend the knowledge of ARAI dental phenotypes and expand the disease-causing variants spectrum of the RELT gene.

Replacement of missing lateral incisors for patients with cleft lip and palate: A decision-making tree based on a systematic review of the literature.

STATEMENT OF PROBLEM: Cleft lip and palate are the most frequent congenital anomalies of the face and are often linked with lateral incisor agenesis. The therapeutic decision on whether and how to replace the lateral incisors is not straightforward, and a decision-making tree is needed. PURPOSE: The purpose of this systematic review was to evaluate the available literature reporting on treatments for the replacement of missing lateral incisors in cleft areas. By analyzing the success and survival rates of these treatments, a decision-making tree was developed. MATERIAL AND METHODS: The literature search was performed on the PubMed (MEDLINE), Web of Science, Cochrane, EMBASE, Dentistry of Oral and Science Source, and Google Scholar databases and was based on the question: Which treatment for patients with lateral incisor agenesis and cleft lip and palate has a good success rate? RESULTS: Twenty-six articles were included in this systematic review. A meta-analysis was performed on 14 articles (20 case series, 6 case controls). The estimated overall 5-year survival rates were 96.4% for implant-supported prostheses. CONCLUSIONS: Different treatment options are available, depending on the clinical situation. If the patient meets the conditions for implant placement, this treatment remains a preferred solution. If the prosthetic space is reduced, orthodontic space closure and composite resin restorations are possible. When these options are not possible, a resin-bonded fixed partial denture is the preferred option. If the teeth adjacent to the edentulous area require extensive restorations, a fixed partial denture may be a suitable alternative.

Reduced bone dimension in patients affected by oligodontia: A retrospective study on maxillary and mandibular CBCT.

AIM: Oligodontia (OD) is a rare developmental condition characterized by the absence of six or more teeth. Dental implant placement may be challenging due to anatomical factors. This study aims to evaluate the alveolar bone dimensions in OD patients compared with controls. MATERIALS AND METHODS: On maxillary and mandibular cone-beam computed tomography (CBCT), bone height and width were measured at every tooth and edentulous site. The distance to the inferior alveolar nerve was also measured. Fifty-three OD patients (40 maxillary and 32 mandibular CBCT) and 82 controls (51 maxillary and 31 mandibular CBCT) were compared using mixed models. RESULTS: Compared with those in OD patients, maxillary permanent teeth and edentulous sites showed significantly higher mean height in control patients (incisive-canine site height: +2.12 mm; edentulous incisive-canine site height: +4.46 mm [p > .001]). For the mandibular permanent teeth, mean height was higher in controls than in OD patients at the incisive-canine (+3.82 mm [p > .001]) and premolar areas (+2.06 mm [p > .001]). Only edentulous incisive-canine sites were significantly different between controls and OD patients (mean: +0.52 mm [p > .001]). Changes in alveolar nerve position were observed in case of molar agenesis. CONCLUSION: Maxillary and mandibular bone dimensions are reduced in OD patients compared with controls both in sites with permanent teeth and in edentulous areas.

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature and serve as a basis, together with the mode of inheritance, to Witkop's classification (Witkop, J Oral Pathol, 1988, 17, 547-553). AI can be described in isolation or associated with others symptoms in syndromes. Its occurrence was estimated to range from 1/700 to 1/14,000. More than 70 genes have currently been identified as causative. Objectives: We analyzed using next-generation sequencing (NGS) a heterogeneous cohort of AI patients in order to determine the molecular etiology of AI and to improve diagnosis and disease management. Methods: Individuals presenting with so called "isolated" or syndromic AI were enrolled and examined at the Reference Centre for Rare Oral and Dental Diseases (O-Rares) using D4/phenodent protocol (www.phenodent.org). Families gave written informed consents for both phenotyping and molecular analysis and diagnosis using a dedicated NGS panel named GenoDENT. This panel explores currently simultaneously 567 genes. The study is registered under NCT01746121 and NCT02397824 (https://clinicaltrials.gov/). Results: GenoDENT obtained a 60% diagnostic rate. We reported genetics results for 221 persons divided between 115 AI index cases and their 106 associated relatives from a total of 111 families. From this index cohort, 73% were diagnosed with non-syndromic amelogenesis imperfecta and 27% with syndromic amelogenesis imperfecta. Each individual was classified according to the AI phenotype. Type I hypoplastic AI represented 61 individuals (53%), Type II hypomature AI affected 31 individuals (27%), Type III hypomineralized AI was diagnosed in 18 individuals (16%) and Type IV hypoplastic-hypomature AI with taurodontism concerned 5 individuals (4%). We validated the genetic diagnosis, with class 4 (likely pathogenic) or class 5 (pathogenic) variants, for 81% of the cohort, and identified candidate variants (variant of uncertain significance or VUS) for 19% of index cases. Among the 151 sequenced variants, 47 are newly reported and classified as class 4 or 5. The most frequently discovered genotypes were associated with MMP20 and FAM83H for isolated AI. FAM20A and LTBP3 genes were the most frequent genes identified for syndromic AI. Patients negative to the panel were resolved with exome sequencing elucidating for example the gene involved ie ACP4 or digenic inheritance. Conclusion: NGS GenoDENT panel is a validated and cost-efficient technique offering new perspectives to understand underlying molecular mechanisms of AI. Discovering variants in genes involved in syndromic AI (CNNM4, WDR72, FAM20A … ) transformed patient overall care. Unravelling the genetic basis of AI sheds light on Witkop's AI classification.

The dental triage method at Rothschild Hospital during the first lockdown due to the COVID-19 pandemic.

OBJECTIVE: This study aims to (1) assess the efficacy of a face-to-face emergency protocol in children and adults and (2) measure the efficacies of prediagnosis at the triage level and clinical diagnosis at the emergency department level during the COVID-19 pandemic. METHODS: A triage protocol was applied for patients at the entry of the Rothschild Hospital (AP-HP) between March 18th and May 11th, 2020. First, patients underwent a triage based on self-reported symptoms. If their condition was deemed urgent, they were oriented toward dental professionals, who performed an intraoral examination leading to a clinical diagnosis. Triage and diagnoses were categorized into four emergency groups: infectious, prosthetic, traumatic, and others. The agreement between triage and clinical diagnosis was tested (χ2 test). Positive predictive value (PPV), negative predictive value (NPV), sensitivity, and specificity for each diagnostic category were assessed to evaluate the performance and efficacy of the triage. RESULTS: Out of 1562 dental visits, 1064 were included in this analysis. The most frequently reported symptoms by children at triage were pain (31.5%) and trauma (22%). Adults mainly complained of abscesses (45.1%) and pulpitis (20.5%). The most frequent clinical diagnoses were abscesses (29.2%) and pulpitis (20.5%) among children and adults, respectively. Tooth extraction was the most frequent treatment modality. Systemic antibiotics were prescribed for 49.2% of patients. Regardless of the age class, the PPV was high for groups 1 to 3, ranging from 78.9% to 100%. The NPV was high in all groups, ranging from 68.8% to 99.1%. CONCLUSION: This study demonstrates that the triage implanted during the first COVID-19 lockdown was effective and is an appropriate tool for the referral of adults and children before clinical examination.

Oral lesions of viral, bacterial, and fungal diseases in children: A decision tree.

Oral mucosal lesions are common in the pediatric population and, apart from traumatic and tumoral etiologies, they can be symptoms of viral, bacterial, fungal or parasitic diseases. Yet, pediatricians and pediatric dentists find it challenging to reach a diagnosis and provide appropriate care when facing lesions of the masticatory or lining mucosa, of the hard or soft palate, of the tongue or salivary glands. Here, we propose a decision tree for the diagnosis of the most frequent viral, bacterial, and fungal diseases starting from their oral lesions in children. By first focusing on describing the elementary lesion itself before its localization and characteristics, it aims to guide the practitioner toward the diagnosis and any necessary complementary exams. To generate this tool, we conducted a literature review of the childhood viral, bacterial, fungal and parasitic diseases with oral mucosal symptoms. For each of the 42 reported diagnoses-20 viral, 9 bacterial, 5 fungal, and 8 parasitic-we collected the infection mechanism and agent(s), the oral lesions and their description, the associated systemic signs and the incidence/prevalence. In fine, our decision tree indexes the 28 diseases for which epidemiological data was available, mainly in Europe and the United States.

Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.

Background: Singleton-Merten syndrome type 1 (SGMRT1) is a rare autosomal dominant disorder caused by IFIH1 variations with blood vessel calcifications, teeth anomalies, and bone defects. Aim: We aimed to summarize the oral findings in SGMRT1 through a systematic review of the literature and to describe the phenotype of a 10-year-old patient with SGMRT1 diagnosis. Results: A total of 20 patients were described in the literature, in nine articles. Eight IFIH1 mutations were described in 11 families. Delayed eruption, short roots, and premature loss of permanent teeth were the most described features (100%). Impacted teeth (89%) and carious lesions (67%) were also described. Our patient, a 10-year-old male with Singleton-Merten syndrome, presented numerous carious lesions, severe teeth malposition, especially in the anterior arch, and an oral hygiene deficiency with a 100% plaque index. The panoramic X-ray did not show any dental agenesis but revealed very short roots and a decrease in the jaw alveolar bone height. The whole-genome sequencing analysis revealed a heterozygous de novo variant in IFIH1 (NM_022168.4) c.2465G > A (p.Arg822Gln). Conclusion: Confused descriptions of oral features occurred in the literature between congenital findings and "acquired" pathology, especially carious lesions. The dental phenotype of these patients encompasses eruption anomalies (delayed eruption and impacted teeth) and lack of root edification, leading to premature loss of permanent teeth, and it may contribute to the diagnosis. An early diagnosis is essential to prevent teeth loss and to improve the quality of life of these patients. Systematic Review Registration: [https://www.crd.york.ac.uk/prospero/], identifier [CRD42022300025].

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.

Dental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.

OBJECTIVE: This retrospective radiographic controlled study investigates the dental phenotype in patients with Crouzon syndrome to determine if differences are observed as suggested by the FGFR2C342Y/+ Crouzon mouse models, and whether these models could be of interest to study the role of this mutation in tooth development. DESIGN: We assessed dental phenotype using dedicated linear measurements in 22 children with Crouzon syndrome and compared tooth morphology in both primary and permanent dentitions to an age-matched control group. Descriptive statistics were performed with "Sex" and "Age" as covariates for the permanent tooth models and "Sex" only for the primary tooth models, to take into account potential confounding factors. RESULTS: We showed that permanent but not primary tooth dimensions were globally reduced in Crouzon syndrome, without microdontia. In permanent dentition, crown height, mesiodistal and faciolingual cervical diameters were reduced by 6.3%, 5.7% and 5.5% respectively (p < 0.05). CONCLUSION: Our results underline the implication of Fibroblast Growth Factor Receptor 2 (FGFR2) in dental development of humans and contribute to support FGFR2C342Y/+ Crouzon mouse models as partial replicas of this condition, including in the oral region.

Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study.

METHODOLOGY: Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites. Based on interview, clinical examination, and intraoral photography, we collected data on periodontal conditions, enamel defects and the presence of tooth sensitivity. Comparison tests were performed to investigate if any difference existed between cases and controls; and among cases, between the different subtypes of amelogenesis imperfecta. We performed a post-hoc analysis for any significant difference observed. RESULTS: We observed more gingival inflammation, enamel defects and tooth sensitivity among cases (all p<0.05). Participants with hypocalcified amelogenesis imperfecta had more gingival inflammation, enamel defects, and tooth sensitivity than patients with the hypoplastic and hypomature subtypes (all p<0.05). After adjustment for dental plaque, gingival inflammation was associated with the presence of amelogenesis imperfecta (OR (95%CI) = 1.14 (1.05; 1.24). p<0.01). CONCLUSION: Gingival inflammation, enamel defect and tooth sensitivity are more frequently observed among young patients with amelogenesis imperfecta, and more specifically among children with the hypocalcified subtype.

Lack of FAM20A, Ectopic Gingival Mineralization and Chondro/Osteogenic Modifications in Enamel Renal Syndrome.

Enamel renal syndrome (ERS) is a rare recessive disorder caused by loss-of-function mutations in FAM20A (family with sequence similarity 20 member A, OMIM #611062). Enamel renal syndrome is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, intrapulpal calcifications, gingival overgrowth and nephrocalcinosis. Although gingival overgrowth has consistently been associated with heterotopic calcifications the pathogenesis, structure and interactions of the mineral deposits with the surrounding connective tissue are largely unknown. We here report a novel FAM20A mutation in exon 1 (c.358C > T) introducing a premature stop codon (p.Gln120*) and resulting in a complete loss of FAM20A. In addition to the typical oral findings and nephrocalcinosis, ectopic calcified nodules were also seen in the cervical and thoracic vertebrae regions. Histopathologic analysis of the gingiva showed an enlarged papillary layer associated with aberrant angiogenesis and a lamina propria displaying significant changes in its extracellular matrix composition, including disruption of the collagen I fiber network. Ectopic calcifications were found throughout the connective gingival tissue. Immunomorphological and ultrastructural analyses indicated that the calcification process was associated with epithelial degeneration and transformation of the gingival fibroblasts to chondro/osteoblastic-like cells. Mutant gingival fibroblasts cultures were prone to calcify and abnormally expressed osteoblastic markers such as RUNX2 or PERIOSTIN. Our findings expand the previously reported phenotypes and highlight some aspects of ERS pathogenesis.

Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study

Abstract Gingival conditions and tooth sensitivity of young patients with amelogenesis imperfecta lack in depth studies. This case-control study aimed to compare (1) the gingival inflammation, the presence of enamel defects, and tooth sensitivity in young patients with and without amelogenesis imperfecta and (2) to investigate if any difference exists between subtypes of amelogenesis imperfecta. Methodology We compared forty-two participants with amelogenesis imperfecta with forty-two controls matched for age, gender, and the number of examined sites. Based on interview, clinical examination, and intraoral photography, we collected data on periodontal conditions, enamel defects and the presence of tooth sensitivity. Comparison tests were performed to investigate if any difference existed between cases and controls; and among cases, between the different subtypes of amelogenesis imperfecta. We performed a post-hoc analysis for any significant difference observed. Results We observed more gingival inflammation, enamel defects and tooth sensitivity among cases (all p<0.05). Participants with hypocalcified amelogenesis imperfecta had more gingival inflammation, enamel defects, and tooth sensitivity than patients with the hypoplastic and hypomature subtypes (all p<0.05). After adjustment for dental plaque, gingival inflammation was associated with the presence of amelogenesis imperfecta (OR (95%CI) = 1.14 (1.05; 1.24). p<0.01). Conclusion Gingival inflammation, enamel defect and tooth sensitivity are more frequently observed among young patients with amelogenesis imperfecta, and more specifically among children with the hypocalcified subtype.

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.

Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study.

BACKGROUND: Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association between Oral health-related quality of life (OHRQoL), and demographic characteristics, clinical and dental factors, and psycho-social characteristics to investigate that oral symptoms are not the main factors underlying a decrease in OHRQoL. MATERIAL AND METHODS: We conducted a national cohort study in French centres for rare diseases (RD) specialized in orofacial diseases. The inclusion criteria were: to have received care in RD centres over the last 5 years (2012-2017) and to have been between 6 and 17 years of age on September 1, 2017. Patients were invited to answer a questionnaire composed of socio-demographic, clinical and dental questions, psychosocial questions and then fill in the Child-OIDP Index. At the end of the questionnaire, a free space was left for the patient to add a verbatim comment to provide qualitative data. Thematic analysis was used to analyze the verbatim answers. RESULTS: Complete data were available for 110 patients. The sample included 44.5% boys and 55.5% girls. Ages ranged from 6 to 17 years old and 68.2% were between 6 to 12 years old and 31.8% were between 13 and 17 years old. Factor associated with a lower OHRQoL were: being a girl (p = 0.03), renouncement to dental care for financial reasons (p = 0.01), having syndromic disease (p = 0.01), having a problem with tooth shape and color (p = 0.03), feeling isolated, alone and different from other children (p = 0.003 and p = 0.02). Qualitative analysis highlighted very little recourse to psychological care and patients reported great anxiety and fear about the future. CONCLUSION: OHRQoL of children suffering from these diseases is impaired, especially from the psychosocial point of view but also from that of the course of treatment and access to care. There is a need to improve the legibility of care pathways and the financial coverage of treatments.

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

BACKGROUND: 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.

Parental-Caregivers Perceptions Questionnaire (P-CPQ): translation and evaluation of psychometric properties of the French version of the questionnaire.

BACKGROUND: The Parental-Caregivers Perceptions Questionnaire (P-CPQ) is a measure of parental/caregivers' perceptions of the impact of children's oral health on quality of life. The aim of the study was evaluate the psychometric properties of the French version of the P-CPQ. METHOD: The original P-CPQ was developed in English language and has 31 items divided into four sub-scales. This cross-sectional study used the translation-back translation method. The translated questionnaire was pretested on 14 parents-caregivers to obtain the final French version. The psychometric properties were tested on 142 parents/caregivers of three clinical groups of children from 8 to 10 years old without dental/facial anomalies (presumed healthy), with oral-facial clefts and with oral-dental anomalies linked to a rare disease other than cleft, approached in the waiting room of the Centre of the Hospital Rothschild in Paris, France, where the children attended treatment. Internal consistency was assessed by Cronbach's alpha and test-retest reliability by Intra-class Correlation Coefficient (ICC). Construct validity was measured by correlations between the total scores and the global ratings of oral health and overall wellbeing, and tested using exploratory factor analysis (EFA) and the factorial structure was evaluated by the partial confirmatory factor analysis (PCFA). Discriminant validity was determined using Kruskall-Wallis test. RESULTS: The mean (standard deviation) P-CPQ score was 18.73(18.79). Internal consistency was confirmed by a Cronbach alpha of 0.85. The test-retest reliability revealed that the responses to items were satisfactorily stable (ICC = 0.88). Construct validity was demonstrated by significant correlation coefficients between the total scale and the global ratings (r = 0.54 and 0.46; p < 0.001). Factor analysis with Principal Component Analysis extracted seven factors explaining 65.23% cumulative variance. Goodness-of-fit indices for partial confirmatory factor analysis were satisfactory for the 7-factors model of the French-PCPQ version. There were statistically significant differences between clinical groups regarding the total scale, thus demonstrating discriminant validity (p < 0.001). CONCLUSION: This French P-CPQ version showed reliability and validity comparable to the previous versions. However, the cross-cultural structure of the subscales should be further evaluated.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.

Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. SLC10A7 encodes a 10-transmembrane-domain transporter located at the plasma membrane. Functional studies in vitro demonstrate that SLC10A7 mutations reduce SLC10A7 protein expression. We generate a Slc10a7-/- mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype. Furthermore, we identify decreased heparan sulfate levels in Slc10a7-/- mouse cartilage and patient fibroblasts. Finally, we find an abnormal N-glycoprotein electrophoretic profile in patient blood samples. Together, our findings support the involvement of SLC10A7 in glycosaminoglycan synthesis and specifically in skeletal development.