Vestibular function in patients with 22q11.2 deletion syndrome

Vestibular function in patients with 22q11.2 deletion syndrome - Vestibular function in 22q11DS

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45597

Enrollment

Registered

2017-07-26

Start date

2017-12-13

Completion date

Unknown

Last updated

2024-02-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

22q11.2 deletion syndrome velocardiofacial sydnrome

Interventions

22q11.2 deletion syndrome

motor development

semicircular canal

vestibular function

Eligibility

Age

12 Years to 17 Years

Inclusion criteria

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

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.

Design outcomes

Primary

Measure	Time frame
The main study parameters of the study is the vestibular function in patients with 22q11.2 deletion syndrome. We will use elektronsytagmography (rotatory chair testing and calorisation) and oVEMP to study this.	—

Secondary

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

Measure

Time frame

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

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Countries

The Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)