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• W4226247941 abstract "To the Editor: We read with interest the article titled “Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)” by Frezza et al. (1), recently published in Otology and Neurotology. The above-mentioned study highlights that cochlear dysfunction may be the cause of the hearing loss in patients affected by FSHD. This statement is sustained by means of the investigation of the auditory function with multiple audiometric tests and with otoacoustic emissions. We recently performed an audiological evaluation of a cohort of 13 patients also with FSHD1 and some additional considerations can be made. The inclusion criteria of our patients (58.38 ± 8.18 yr; range, 48–74; five women) was self-reported or clinically diagnosed hearing loss (demographic and audiological data of the group present in Table 1). All patients underwent otoscopic evaluation and tympanogram (both normal for the whole cohort), audiometric testing with pure tone audiometry, frequency discrimination measurements, and event related potential P300 latency analysis. TABLE 1 - Demographic, genetic, and audiological data of the cohort Right Audiometry Left Audiometry PT Sex Age Ecori Fragment FSHD Score Class Age Onset HL (yrs) 250 Hz 500 Hz 1000 Hz 2000 Hz 4000 Hz 8000 Hz 250 Hz 500 Hz 1000 Hz 2000 Hz 4000 Hz 8000 Hz Reflexes 1 F 68 28 kb 6 B1 66 35 30 10 10 15 55 55 50 55 55 75 70 Absent 2 M 61 38 kb + 31 kb 7 A3 25 20 15 10 25 55 45 20 20 10 15 55 45 Absent 3 F 56 36 kb + 31 kb 4 A2 NPE 15 15 15 10 20 20 15 20 20 10 10 10 Absent 4 M 50 28 kb 6 A 2 NPE 20 20 20 25 65 35 35 30 20 25 70 35 Absent 5 F 74 35 kb 6 A3 NPE 10 10 15 40 55 70 10 10 15 40 65 65 Absent 6 M 61 21 kb 9 A2 58 15 15 15 20 30 40 15 15 20 15 20 15 Absent only at high frequencies 7 F 56 33 kb 8 A2 NPE 25 30 25 45 35 30 20 20 25 45 40 30 Absent 8 F 65 27 kb 2 B2 60 15 15 20 20 40 30 25 20 20 10 20 30 Absent 9 M 60 33 kb 0 C2 56 20 25 20 25 30 45 15 15 10 15 25 25 Absent only at high frequencies 10 M 63 33 kb 3 A2 60 10 10 20 25 65 10 10 10 20 35 50 15 Absent 11 M 48 32 kb 4 A3 45 25 40 40 40 35 35 10 20 20 25 15 10 Absent 12 M 48 32 kb 7 D1 42 10 10 20 30 25 35 15 15 20 45 25 20 Present bilaterally 13 M 49 38 kb + 33 kb 5 A3 NPE 15 15 15 10 30 30 10 15 15 10 30 30 Absent The result at pure tone audiometry for each frequency is expressed in dB HL.FSHD indicates facioscapulohumeral muscular dystrophy; HL, hearing loss; NPE, no previous evaluation; PT, patient; yrs, years. In our cohort, 5/13 (38%) patients reported a self-perceived hearing deficit despite no previous audiological evaluations. Only one patient reported no pathologic results at pure tone audiometry suggest that hearing loss in FSHD1 is a recurrently reported symptom (see Table 1). Noteworthy, a single patient had normal results but was evaluated because he reported hearing problems, most probably subclinical at this point. The analysis of the average results for each frequency revealed a descending configuration for the hearing threshold, with reduced hearing performance for high frequencies (higher than 2 kHz). Even though the pure tone average might be normal, a mild/moderate loss in high frequencies can be perceived by patients, especially when dealing with speech perception. To further investigate the hearing performance of these patients’ frequency discrimination measurements were performed. A set of 10 triplets of tones with equal intensity were presented to patients, at a comfortable listening level. In each triplet, one of the three tones had a different frequency compared with the other two, and patients were asked to identify the different tone. The difference in frequency had three different levels of difficulty for each of the two-frequency ranges (1000 and 2000 Hz). These tests resulted in pathologic in all patients. The event related potential P300 latency analysis revealed that all patients presented results in line with the hearing threshold. Notably, the impedance audiometry and the test of acoustic stapedial reflexes revealed that only one patient (1/13, 8%) presented normal acoustic stapedial reflexes. Also, the patient with normal hearing threshold presented absence of the acoustic stapedial reflexes. This observation can be considered interesting while dealing with these patients. In general, while considering a progressive hearing loss, the absence of reflexes is explained by a damage of the cochlea or the neural circuit crucial for the maintenance of this function. In the case of FSHD1, a hereditary muscle disease, the clinician should also consider the inefficiency of the contraction of the stapedial muscle as a possible cause of reflexes. So, even in patients with slight hearing loss, the stapedial reflexes can be absent due to the reduced function of this structure of the middle ear. Consequently, the absence of reflexes should not be considered a sign confirming a cochlear or retrocochlear nature of hearing loss. Noteworthy, 2/13 (15%) patients (number 1 and 11) presented an asymmetric hearing loss. This result may be due to the concomitant occurrence of other pathologic processes or to an asymmetric development of an FSHD1-related hearing loss that should be investigated over time. All the above-mentioned considerations added to the observations made by Frezza et al. (1) lead to the conclusion that hearing loss should be considered a frequent feature of FSHD1, but a thorough evaluation is necessary to ascertain the degree and the impact of the deficit. Even if the recent studies have shown novel findings concerning FSHD1 (2), conclusive data about hearing loss are not available and only future research will help in better defining this issue." @default.
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• W4226247941 date "2021-11-11" @default.
• W4226247941 modified "2023-09-26" @default.
• W4226247941 title "AUDITORY DYSFUNCTION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 1: BEYOND THE INNER EAR INVOLVEMENT" @default.
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• W4226247941 doi "https://doi.org/10.1097/mao.0000000000003422" @default.
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