Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with OTOF-Related Deafness

System/ConcernEvaluationComment
Hearing loss /
Deafness
Assessment of auditory acuity (ABR emission testing, pure tone audiometry)
Speech delay By speech therapist / speech pathologist
Speech
discrimination
By audiologistTested when audiometry obtained
Genetic
counseling
By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of OTOF-related deafness to facilitate medical & personal decision making
Family support/
resources
Assess:

ABR = auditory brain stem response; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: OTOF-Related Deafness

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