Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Mowat-Wilson Syndrome, Dental Caries, Periodontal Diseases, Sleep Related Breathing Disorder. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Detailed description
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 .
Primary outcome measures
- Dental caries assessment [Time frame: Baseline]
- Facial morphometric assessment [Time frame: Baseline]
- Cephalometric assessment [Time frame: Baseline]
- Dental arch assessment [Time frame: Baseline]
- Dental anomalies assessment [Time frame: Baseline]
- Dental plaque assessment [Time frame: Baseline]
- Developmental Defects of Enamel (DDEs) assessment [Time frame: Baseline]
- Periodontal health assessment [Time frame: Baseline]
- Oral mucosa lesion assessment [Time frame: Baseline]
- Morphological facial assessment [Time frame: Baseline]
Secondary outcome measures (1)
- Phenotype and genotype association [Time frame: Baseline]
Eligibility criteria
Inclusion criteria
- individuals affected by MWS with confirmed molecularly diagnosis of ZEB2 gene variation.
- written informed consent statement signed by parents/legal guardians for participation in the study
Exclusion criteria
- individuals not affected by MWS
- refusal of parents/legal guardians to participate in the study
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Italy · 1 center
- University of Milan — Milan
Identifiers
NCT: NCT07476417 · EC University of Milan 126/25