Monitoring
It is recommended, based on experience in practice, that:
Baseline audiology evaluation is performed in all patients at diagnosis; the frequency of further audiologic evaluations should be based on the severity of hearing loss, with particular consideration given to the impact of hearing loss on quality of life for the patient.
Hearing evaluation is performed in children with OI before they start school and repeated every 3 years; annual evaluation should be carried out if abnormalities in hearing are detected.
Children with issues with speech, recurrent ear infections, or whose parents suspect a hearing loss should have a formal audiologic assessment regardless of age.
Adults with reported hearing loss should have annual testing and follow-up appointments similar to the schedule for children.
If hearing loss is identified, regular ENT/audiology follow-up is recommended, with further review if hearing changes.
Adults experiencing tinnitus or symptoms of hearing loss should also have an audiologic assessment to determine if hearing loss is conductive or sensorineural.
Individualized surveillance for pulmonary and cardiac health may be performed by a pulmonologist/cardiologist, based on OI severity and the presence of cardiopulmonary signs and/or symptoms.[45] Cardiopulmonary surveillance options may include:
Forced vital capacity (FVC), FEV₁/FVC, and pulse oximetry[45]
In children, at age 7 years or above or when the child is capable of performing the test. Key 4OI consensus recommendations for lung function guidance in OI suggest to repeat these tests following the transition to adult care for mild OI, and to repeat annually for severe OI.[45] The authors of this topic, however, recommend a less frequent follow-up for severe OI (every 1-2 years). If required, seek specialist input on the most appropriate follow-up frequency for your individual patient.
In adult patients, if FVC, FEV₁/FVC, and pulse oximetry are within normal values and in the absence of pulmonary symptoms, Key 4OI recommends to reassess every 5 years for mild OI and annually for severe OI.[45] The authors of this topic, however, recommend a less frequent follow-up for severe OI (every 1-2 years). If required, seek specialist input on the most appropriate follow-up frequency for your individual patient.
Advanced testing (chest radiograph) and measurement of outcomes (e.g., peak cough flow, forced expiratory flow at 25%-75% of the vital capacity, diffusing capacity, total lung capacity, residual volume/total lung capacity, and expiratory reserve volume).[45]
Echocardiography, in patients with severe OI or those with clinical features of cardiovascular disease.[45]
Assess pain symptoms at regular intervals during follow-up and refer to a pain management service if symptoms are not adequately managed or worsen.
Patients should also have regular follow-up (e.g., every 6 months) with a dentist with expertise in treating dentinogenesis imperfecta and malocclusions, to maintain good oral health and assist with developing a functional bite.
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