Why the study?
Etiopathogenetic mechanisms of auditory dysfunction in FSHD1 are not completely understood, and cochlear alterations may be present even in subjects with normal pure-tone audiometry.
Do patients with FSHD1 have subclinical cochlear dysfunction compared to healthy controls?
Do patients with FSHD1 have subclinical cochlear dysfunction compared to healthy controls?
Otoacoustic emissions (TEOAEs and DPOAEs) are sensitive tools for detecting subclinical cochlear dysfunction in patients with FSHD1, even those with normal hearing or mild muscle involvement.
Otoacoustic emissions may detect subclinical cochlear dysfunction in FSHD1; hypothesis-generating and requires prospective validation before clinical adoption.
INTRODUCTION: Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment. However, etiopathogenetic mechanisms of auditory dysfunction are still not completely understood and it has been suggested that it could be assigned to a cochlear alteration that is present even in those subjects with a normal pure tonal audiometry (PTA) examination. METHODS: We found out the cochlear function in 26 patients with molecular diagnosis of FSHD1 and in healthy controls. All patients underwent complete neurological and audiological examinations, including FSHD clinical score, pure-tone audiometry (PTA), and otoacoustic emissions (OAEs), in particular transient evoked otoacoustic emissions (TEOAEs) and distortion product evoked otoacoustic emissions (DPOAEs). RESULTS: All FSHD1 patients showed significantly reduced DPOAEs and TEOAEs, bilaterally and at all frequencies, even when considering only subjects with a normal PTA or a mild muscular involvement (FSHD score ≤ 2). No correlation between OAEs and FSHD clinical score was found. DISCUSSION: Cochlear echoes represent a sensitive tool in detecting subclinical cochlear dysfunction in FSHD1 even in subjects with normal hearing and/or subtle muscle involvement. Our study is focused on the importance of evaluating the cochlear alteration through OAEs and, in particular, by performing TEOAEs and DPOAEs sequentially, to evaluate more frequent specificities of cochlear dysfunction with a wider spectrum of analysis.
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Frezza et al. (2020) studied this question.
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