Abstract
Aetiological evaluation of permanent hearing impairment (PHI) is important in order to achieve better possibilities of predicting progression of PHI, to make habilitation plans, to estimate habilitation outcome and to implement prevention. At present aetiological investigation can only in some cases lead to causal treatment of HI. Even today the basis for aetiological investigation of PHI is by thorough analysis of the history of the patient and physical examination, including age appropriate audiological testing. Clinicians need to decide which further investigations should be undertaken in each case and base their decision on the best principles of current evidence and cost-effectiveness. Aetiological evaluation is an ongoing process. There are many conditions where clinical status can change over time, and therefore where repeated audiological and laboratory tests are needed to ascertain aetiological diagnosis. Developments especially in molecular genetics and imaging technology can be expected to decrease the number of unknown aetiologies, which comprise around 40% of all cases of PHI. It will take time before clinicians have tests available for genetic screening of the most common mutations causing HI, and such tests may save many patients from unnecessary aetiological investigations.
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