Vestibular function in patients with 22q11.2 deletion syndrome

Completed

Conditions: 10010449
22q11.2 deletion syndrome
velocardiofacial sydnrome
10083624

Registration Number: NL-OMON45597

Lead Sponsor: Keel-, Neus- en Oorheelkunde

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 30

Inclusion Criteria

- Signed informed consent
- 12-17 years old
- Diagnosed with 22q11.2 deletion syndrome with fluorescence in situ hybridization or multiplex ligation-dependent probe amplification confirming the presence of a deletion.

Exclusion Criteria

- Unable to undergo electornystagmography, due to a tympanic membrane perforation or tympanic membrane tube, or due fear or other similar reasons.
- Unable to undergo MRI scanning, due to claustrophobia, unable to potentially lay still, presence of metal objects in the body that cannot be taken of, possibility of pregnancy.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The main study parameters of the study is the vestibular function in patients<br /><br>with 22q11.2 deletion syndrome.<br /><br>We will use elektronsytagmography (rotatory chair testing and calorisation) and<br /><br>oVEMP to study this.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The secondary study parameters are:<br /><br><br /><br>- The presence or absence of anatomical malformations of the inner ear<br /><br>- The relation between anatomical malformations of the inner ear and<br /><br>vestibular function in patients with 22q11.2 deletion syndrome.<br /><br>This will be studied the MRI images of the temporal bones (and the vestibular<br /><br>tests).<br /><br><br /><br>- The relation between vestibular function and motor development in patients<br /><br>with 22q11.2 deletion syndrome.<br /><br>For this parameter we will use data extracted from the Van Wiechenschema, where<br /><br>the age of patients at which motor developmental milestones are reached, are<br /><br>noted.<br /><br><br /><br>The last study parameters is:<br /><br>- The relation between anatomical inner ear malformations and hearing<br /><br>loss in patients with 22q11.2 deletion syndrome.<br /><br>For this parameter the pure tone audiogram is performed (and the MRI scan of<br /><br>the temporal bones). </p><br>