The aim is to determine whether vestibular deficits are present in OI, then to establish whether a correlation exists between genetic type, severity of OI and audiovestibular phenotype. OI patients aged 12 to 20 years will undergo an audiometric, immittance, and vestibular assessment. When hearing loss is conductive or mixed or in cases where vestibular deficits are identified, a CT scan without injection will be performed. In case of sensorineural hearing loss or abnormal CT results, an MRI will be performed.
Patients between the ages of 12-20 years at the time of inclusion
Diagnosis of Osteogenesis Imperfecta of any type
Currently followed by a physician at the CRMR OI
Information and non-opposition of major patients, holders of parental authority and minor patients to participate in the study
Patients with hearing loss of alternate origin e.g. Cochlear nerve deficiency, atresia, etc.
Neurological or developmental deficits limiting participation
Cervico-occipital instability e.g. Chiari's malformation
Limitations in mobility of the spine e.g. scoliosis, spinal fractural fusion
Adolescents and young adults with a diagnosis of Osteogenesis Imperfecta of any type and followed by a physician at the Centre de Référence des Maladies Rares des maladies osseuses constitutionnelles (CRMR OI) of Hôpital Necker-Enfants malades.
Case-only
Cross-sectional
Vestibular Assessment
Diagnostic testDuring the usual hearing assessment (immittance testing and pure-tone and speech audiometry) carried out by patients, a vestibular assessment will be done for the study to detect vestibular disorders: * Videonystagmography (VNG) Is the study of eye movement with the help of infrared googles. * Subjective Visual Vertical (SVV) The patient is asked to orient a line on the vertical axis. * Video Head Impulse Test (vHIT) * Cervical and Ocular Vestibular Evoked Myogenic Potential (cVEMP and oVEMP)
Petrous bone Computed Tomography (CT)
Diagnostic testFor patients diagnosed with hearing loss, whether conductive, mixed, and/or a vestibular deficit, a CT scan (without injection) will be proposed for their care. Petrous bone Computed Tomography (CT) is an imaging technique used as the standard method of evaluation of the boney structures in the ear.
Magnetic Resonance Imaging (MRI)
Diagnostic testPatients that have done a CT and for who CT results was abnormal, will additionally require an MRI for their standard care. Magnetic Resonance Imaging (MRI) is an imaging technique used as the standard method of evaluation of the cochlear, retrocochlear and central and peripheral nervous system. An injection of Gadolinium contrast media will be used to enhance certain recordings.
Central Vestibular Function
Is evaluated by videonystagmography (VNG). The purpose of this test battery is to separate the vestibular disorders from disorders of the central neural system. Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal. Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta.
Subjective Visual Vertical (SVV)
Utricular Function Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta. The patient is asked to orient a line on the vertical axis. An angle of 3 degrees from the vertical indicates an otolithic utricular disorder. Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal.
Ocular Vestibular Evoked Myogenic Potential (oVEMP)
Utricular Function Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta. The oVEMP assesses utricular function and reflects the function of the vestibular nuclei and the crossed vestibulo-ocular reflex (VOR) pathways, mostly contained in the medial longitudinal fasciculus (MLF). Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal.
Semi-circular canal function
Video Head Impulse Test (vHIT). The vHIT assesses the vestibular ocular reflex linked to the semi-circular canal function when stimulated at a high frequency. Clinical norms will be applied to determine whether the exam is either within normal limits or abnormal. Research of eventual vestibular disorder to determine if vestibular disorders can be linked to Osteogenesis Imperfecta.
Immittance testing
Audiological phenotype Immittance testing can indicate whether middle ear structures are in tact * Middle ear pressure and compliance of the tympanic membrane * Ipsilateral acoustic reflex thresholds
Pure-tone audiometry
Audiometry performance Pure tone audiometry is used to establish the type and degree of hearing loss. This measure is important to characterize the audiological phenotype. Hearing thresholds established in air and bone conduction between 250-8000Hz in each ear. Pure tone audiometry assessed as normal or abnormal Audiometry is considered abnormal if any threshold is greater than or equal to 25 dB HL.
Speech Audiometry
Audiometry performance Speech audiometry is used to establish the lowest intensity level in dB at which the patient can comprehend 50% of speech. This measure is important to confirm reliability of the pure tone audiometry, and to confirm that speech is both audible and intelligible. Speech audiometry assessed as normal or abnormal.
Severity of OI
OI medical diagnosis. The OI diagnosis is clinical, based on the following signs: ligament laxity, bluish discoloration of the sclera, hearing loss, vascular tissue abnormalities, hemostatic disorder, elevated basal metabolic rate, renal disorder, neurological disorder, history family. Depending on symptom severity, OI patient's diagnosis will be classified into on of four phenotypes : moderate (type I), lethal (type II), severe (type III), and moderate-to-severe (type IV).
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Assistance Publique - Hôpitaux de Paris
Lead sponsor
URC-CIC Paris Descartes Necker Cochin
Collaborator
