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| Name | Class |
|---|---|
| Associazione Italiana Mowat Wilson (Mowat Wilson Italian Association) | UNKNOWN |
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Mowat-Wilson Syndrome (MWS) is a rare syndrome characterized by the presence of facial gestalt and delayed psychomotor development, variably associated with intellectual disability, epilepsy, Hirschsprung's disease (HSCR) and multiple congenital malformations.
Although there is evidence of the presence of dental and craniofacial anomalies in MWS, little epidemiological data is available to date.
The goal of this observational study is to assess oral health and dento-facial phenotype of people affected by Mowat-Wilson Syndrome (MWS). In addition, the Oral Health Related Quality of Life (OHRQoL) will be investigated.
Subjects will be recruited from those attending the annual meeting of Mowat Wilson Italian Association, whose parents/guardians will have agreed and signed informed consent for their participation in the study.
Parents/guardians will be asked to answer to a series of questionnaires regarding comprehensive medical and dental history, oral habits, socioeconomic status, and oral-health related quality of life (OHRQoL).
Participants will then undergo intraoral and extraoral examination, extraoral photographs of the face; dental and facial digital scans will be also collected.
Parents/guardians will be asked to provide any dental radiographs of subjects (panoramic dental x-ray, dental computer tomography, lateral skull radiographs for cephalometry) if previously performed .
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Individuals diagnosed with MWS | Subects affected by MWS with molecularly confirmed diagnosis of ZEB2 gene variation. |
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| Measure | Description | Time Frame |
|---|---|---|
| Dental caries assessment | Dental caries will be measured as follows:
| Baseline |
| Facial morphometric assessment | Facial soft tissue characteristics will be measured by 2D and 3D analysis performed on frontal/lateral photographs of the face and 3D face scanning, respectively. Extraoral facial photographs will be used for 2D facial morphometric analysis, both frontal and profile views, using OrthoTP® software (Microlab, Italy). 3D facial morphometric analysis will be performed on the 3D reconstructions of the subjects' facial scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA). The reference landmarks and planes for both 2D and 3D facial morphometric analyses were selected according to international criteria and previously validated protocols that have also been applied in the study of subjects with facial dysmorphisms. The values obtained will be compared with reference values reported in the literature for the general population matched for age and sex. | Baseline |
| Cephalometric assessment | Dento-skeletal characteristics will be measured by cephalometric analysis performed on lateral skull radiographs of patients, if previously performed and provided by the parents/guardians. Cephalometric tracings and measures will be performed using OrthoTP® software (Microlab, Italy). The cephalometric analysis method that will be adopted is that of the Milan School of Orthodontics, which includes several analyses commonly used in orthodontics and internationally validated. | Baseline |
| Dental arch assessment |
| Measure | Description | Time Frame |
|---|---|---|
| Phenotype and genotype association | Correlation between genotype and phenotype will be investigated by analyzing the association between the dental, occlusal, and facial characteristics observed and the three main genetic variants of mutation of the ZEB2 gene (complete deletion; absence of protein; defective protein) through Chi-squared and Fisher's exact tests. | Baseline |
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Inclusion Criteria:
Exclusion Criteria:
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Partecipants will be enrolled from those who will attend the annual meeting of the Italian Mowat Wilson Association
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Maria Grazia Cagetti, DDS, MSc, PhD | Contact | +39 02503 19008 | maria.cagetti@unimi.it | |
| Araxi Balian, DDS, MSc, PhD | Contact | araxibalian@gmail.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Milan | Milan | Italy |
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Individual de-identified patient data will be shared on the respository UNIMI Dataverse
All requests for data relating to this study that are made within 5 years from data collection will be considered.
IPD generated during the study will be made available through the University of Milan Data Repository (UNIMI Dataverse).
Only fully anonymized datasets will be shared to ensure the protection of participants' privacy and compliance with applicable data protection regulations.
No information that could directly or indirectly identify individual participants will be included.
Researchers interested in accessing the dataset will be able to submit a request through the UNIMI Dataverse platform, specifying the intended use of the data. Datasets will be accessible via the UNIMI Dataverse repository interface, where users will be required to agree to the repository's data use terms and conditions before downloading the files.
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Molar and canine Angle's dental arch relationships, frequency and degree of dental crowding/spacing, dental arch widths (intercanine, interpremolar, and intermolar widths) and depth will be assessed on patient's intraoral digital scans using VAM software (Canfield Scientific, Inc., Parsippany, NJ, USA).
| Baseline |
| Dental anomalies assessment | Frequency and type of dental anomalies (missing and/or suvrannumerary tooth; micro/macrodontia; tooth inclusion; tooth displacement; alterations in tooth morphology) will be assessed during the dental examination and on dental radiographs of subjects (panoramic dental x-ray, dental computer tomography) if provided by the parents/guardians | Baseline |
| Dental plaque assessment | Mean and distribution of the WHO Plaque Index (PI) will be calculated. PI score can range from 0 to 3 (where 0 is "absence of dental plaque" and 3 is "abundant and visibile dental plaque"). | Baseline |
| Developmental Defects of Enamel (DDEs) assessment | Frequency, type and localization of DDEs will be assessed using the DDE index. The DDE index classifies enamel defects according to their clinical appearance. It categorizes defects into three main types: demarcated opacities, diffuse opacities, and enamel hypoplasia, and also allows the recording of combinations of these defects. The index records the type, distribution, and extent of the defect on each tooth surface, enabling consistent documentation and comparison of enamel developmental defects in clinical and epidemiological study. When the phenotypic appearance will suggest specific alterations consistent with molar-incisor hypomineralization (MIH) or dental fluorosis, specific indices will be used to assess the severity of the lesions (MIH and Dean indexes). | Baseline |
| Periodontal health assessment | The Community Periodontal Index (CPI) will be used to assess in the 6 sextants of the mouth the parodontal status. The CPI ranges from 0 to 4, where zero stands for "healthy gingiva" and 4 for "deep pocket of 6 mm or more". | Baseline |
| Oral mucosa lesion assessment | Frequency, type (e.g. abscess, leukoplakia, ulcer, oral candidiasis, etc...), and localization (vermilion borderof the lips, commisure of lips, lips, buccal mucosa, floor of mouth, tongue, palate, gum) of oral mucosal lesion will be assessed. | Baseline |
| Morphological facial assessment | Frequency of convex and concave facial profile, brachicephalic (short-headed) and dolicocephalic (long-headed) craniofacial shape, decreased and increased lower third of the face, and mandibular and facial asymmetry will be assessed. | Baseline |
| Occlusal assessment | The frequency of Class I, Class II, Class III, deepbite, openibite, crossbite, and scissorbite malocclusions, increased and/or decreased overjet and overbite, dental crowding, and spacing will be assessed. | Baseline |
| Oral functional assessment | Frequency and type of oral habits/oral dysfunctions (e.g. oral breathing, tongue thrust, non-sucking habits, sleep apnoea, bruxism, etc...), tonsillar hypertrophy (Mallampati index), soft palate position (Friedman index), and temporomandibular disorders (TMD) will be assessed. | Baseline |
| Oral Health Realated Quality of Life (OHRQoL) | Oral Health-Related Quality of Life will be assessed using standardized questionnaires: one for subjects up to 17 years of age (P-CPQ Questionnaire) and another for subjects aged 18 years and older (OHIP-14 Questionnaire). | Baseline |
| ID | Term |
|---|---|
| C536990 | Mowat-Wilson syndrome |
| D003731 | Dental Caries |
| D010510 | Periodontal Diseases |
| D014076 | Tooth Diseases |
| D008310 | Malocclusion |
| D014071 | Tooth Abnormalities |
| D019465 | Craniofacial Abnormalities |
| ID | Term |
|---|---|
| D017001 | Tooth Demineralization |
| D009057 | Stomatognathic Diseases |
| D009059 | Mouth Diseases |
| D018640 | Stomatognathic System Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D009140 | Musculoskeletal Diseases |
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