OBJECTIVE: To establish the audiometric profile and speech recognition characteristics in 36 Usher IIa patients, carrying one (A) or two (B) pathogenic mutations in the gene. STUDY DESIGN: Family study. SETTING: Tertiary referral center. PATIENTS: Thirty six Usher IIa patients from 21 Dutch families. METHODS: Ophthalmologic, vestibular, and audiometric examinations were performed on all patients. Cross-sectional analysis was performed on pure tone threshold data at 0.25 to 8 kHz and on speech phoneme recognition scores. Progression was evaluated using linear regression analysis on raw and presbyacusis corrected data. RESULTS: A downsloping audiogram was found, with a mean threshold slope of -9 dB per octave, that was mildly progressive, i.e., by approximately 0.5 dB per year. Individual monaural maximum phoneme recognition scores (% correct) were analyzed in 30 patients in relation to the patient's age and level of hearing impairment characterized by a pure tone average (PTA(1-4 kHz)). The speech recognition score started to deteriorate from a score of 90% at 38 years at a rate of 0.4% per year. The 90% level was attained at 69 dB hearing level (PTA(1-4 kHz)); at higher levels of impairment, the score deteriorated at a slope of 0.6% per dB hearing level. There was no significant difference between group A and B in pure tone threshold, with or without presbyacusis correction, or phoneme recognition score as related to age or PTA(1-4 kHz). CONCLUSIONS: Patients with various mutations in have moderate to severe hearing impairment showing mild progression at approximately 0.5 dB hearing level per year.
OBJECTIVE: To establish the audiometric profile and speech recognition characteristics in 36 Usher IIa patients, carrying one (A) or two (B) pathogenic mutations in the gene. STUDY DESIGN: Family study. SETTING: Tertiary referral center. PATIENTS: Thirty six Usher IIa patients from 21 Dutch families. METHODS: Ophthalmologic, vestibular, and audiometric examinations were performed on all patients. Cross-sectional analysis was performed on pure tone threshold data at 0.25 to 8 kHz and on speech phoneme recognition scores. Progression was evaluated using linear regression analysis on raw and presbyacusis corrected data. RESULTS: A downsloping audiogram was found, with a mean threshold slope of -9 dB per octave, that was mildly progressive, i.e., by approximately 0.5 dB per year. Individual monaural maximum phoneme recognition scores (% correct) were analyzed in 30 patients in relation to the patient's age and level of hearing impairment characterized by a pure tone average (PTA(1-4 kHz)). The speech recognition score started to deteriorate from a score of 90% at 38 years at a rate of 0.4% per year. The 90% level was attained at 69 dB hearing level (PTA(1-4 kHz)); at higher levels of impairment, the score deteriorated at a slope of 0.6% per dB hearing level. There was no significant difference between group A and B in pure tone threshold, with or without presbyacusis correction, or phoneme recognition score as related to age or PTA(1-4 kHz). CONCLUSIONS:Patients with various mutations in have moderate to severe hearing impairment showing mild progression at approximately 0.5 dB hearing level per year.
Authors: Rosalie M Nolen; Robert B Hufnagel; Thomas B Friedman; Amy E Turriff; Carmen C Brewer; Christopher K Zalewski; Kelly A King; Talah T Wafa; Andrew J Griffith; Brian P Brooks; Wadih M Zein Journal: Ophthalmic Genet Date: 2020-05-06 Impact factor: 1.803
Authors: M Stemerdink; B García-Bohórquez; R Schellens; G Garcia-Garcia; E Van Wijk; J M Millan Journal: Hum Genet Date: 2021-07-30 Impact factor: 4.132
Authors: Alessandro Iannaccone; Carmen C Brewer; Peiyao Cheng; Jacque L Duncan; Maureen G Maguire; Isabelle Audo; Allison R Ayala; Paul S Bernstein; Gavin M Bidelman; Janet K Cheetham; Richard L Doty; Todd A Durham; Robert B Hufnagel; Mark H Myers; Katarina Stingl; Wadih M Zein Journal: Am J Med Genet A Date: 2021-07-30 Impact factor: 2.578
Authors: B P Hartel; M J H Agterberg; A F Snik; H P M Kunst; A J van Opstal; A J Bosman; R J E Pennings Journal: Clin Otolaryngol Date: 2016-11-06 Impact factor: 2.597