To investigate the prevalence and existence of orofacial abnormalities, in patients with Mucopolysaccharidoses and Mucolipidosis type II and III and how these abnormalities impair the quality of life.
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
- Lipid metabolism disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
- The incidence of orofacial abnormalities, determined with light photos,
CBCT-scans, 3D stereophotographs, Temporomandibular Joint Examination
(Diagnostic Criteria for Temporomandibular Disorders, DC-TMD) and a general
dental/oral examination.
- Outcomes of questionnaires filled out by the patient/caregiver (OHIP-14 /
COHIP (Child Oral Health Impact Profile) and Darriford appearance scale (for
non-neuronopathic adult patients)).
Secondary outcome
n.a.
Background summary
Orofacial abnormalities in MPS and ML patients have not yet been investigated
in a standardized manner in a large cohort of patients. The frequency and
severity of these abnormalities are unclear. Both are important for developing
protocols for early detection of orofacial problems and prevention of
complications, to improve quality of life.
Study objective
To investigate the prevalence and existence of orofacial abnormalities, in
patients with Mucopolysaccharidoses and Mucolipidosis type II and III and how
these abnormalities impair the quality of life.
Study design
The study design is a cross-sectional cohort study with all MPS and ML II and
III patients (both children and adults) in the Erasmus MC. The patients will be
asked to come visit the department of oral and maxillofacial surgery of the
Erasmus MC once to investigate orofacial abnormalities by making light photos,
a Cone-Beam CT (CBCT) (three-dimensional imaging of the jaws and maxillofacial
structures) and 3D stereophotographs, by performing a Temporomandibular Joint
examination (Diagnostic Criteria for Temporomandibular Disorders, DC-TMD), a
general dental/oral examination and filling out questionnaires regarding their
subjective wellbeing, considering their oral health (using the (Child) Oral
Health Impact Profile (OHIP-14 / COHIP) questionnaire) and (for
non-neuronopathic adult patients, using the Darriford appearance scale) their
appearance.
Study burden and risks
The risk of side-effects is very limited. The patients will visit the
department of oral and maxillofacial surgery of the Erasmus MC one day(part).
This visit can be combined with the standardised annual follow-up of these
patients. The patients receive an extensive examination of orofacial features,
which is important for early detection of orofacial problems and preventing
complications.
Doctor Molewaterplein 40
Rotterdam 3015 GD
NL
Doctor Molewaterplein 40
Rotterdam 3015 GD
NL
Listed location countries
Age
Inclusion criteria
Patients diagnosed with MPS or ML II or ML III (enzyme and/or DNA diagnostics)
and known in the Erasmus MC.
Exclusion criteria
- Patients who don't want to participate in the study;
- Patients with an end-stage disease or other medical conditions making the
examinations impossible.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL74342.078.20 |