Abstract
Hearing loss in Stickler syndrome has received little attention due to the often more disabling ocular, orofacial and skeletal manifestations. Estimates suggest a global prevalence of sensorineural hearing loss (SNHL) ranging from 50 % to about 100 % though, depending on the underlying Stickler genotype. By performing extensive audiometric analysis in Stickler patients, we aimed to further elucidate the auditory phenotype. Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing. Cross-sectional and longitudinal regression analysis of the audiograms was performed to assess progression. In type 1 Stickler syndrome, 75 % demonstrated hearing loss, predominantly in the high frequencies. No significant progression beyond presbyacusis was observed. All type 2 Stickler patients exhibited mild-to-moderate low- and mid-frequency SNHL and moderate-to-severe high-frequency SNHL. In both types, hearing loss was observed in childhood. Otoacoustic emissions were only detectab...Continue Reading
References
Sep 1, 1994·Hearing Research·U KhetarpalC C Morton
Mar 16, 2000·The Laryngoscope·R J AdmiraalC W Cremers
Mar 18, 2000·Journal of Neuroscience Methods·T RenA A Parthasarathi
Sep 15, 2001·Archives of Otolaryngology--head & Neck Surgery·Y M Szymko-BennettA J Griffith
Jan 15, 2002·Hearing Research·George A GatesEdwin W Rubel
May 15, 2004·Acta Oto-laryngologica·Karl B ShpargelAndrew J Griffith
Nov 10, 2004·International Journal of Pediatric Otorhinolaryngology·Laura W J BaijensCor W R J Cremers
Nov 26, 2004·The Annals of Otology, Rhinology, and Laryngology·Els M R De LeenheerCor W R J Cremers
Sep 10, 2005·American Journal of Medical Genetics. Part a·Peter S RoseClair A Francomano
Sep 21, 2005·Archives of Otolaryngology--head & Neck Surgery·Brechtje de BeerGerhard A Zielhuis
Jan 20, 2007·American Journal of Medical Genetics. Part a·Marja MajavaGeert R Mortier
Jan 9, 2009·Audiology & Neuro-otology·Joop M LeijendeckersCor W R J Cremers
Dec 17, 2009·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Hannah KepplerBart Vinck
Feb 25, 2010·European Journal of Human Genetics : EJHG·Kristien P HoornaertGeert R Mortier
Jul 23, 2011·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·V PisaniS Di Girolamo
Sep 17, 2011·Eye·M P SneadA J Richards
Jul 17, 2012·Hearing Research·E van BeelenH P M Kunst
Nov 1, 2012·Orphanet Journal of Rare Diseases·Frederic R E AckeEls M R De Leenheer
Aug 8, 2013·Journal of Medical Genetics·Allan J RichardsMartin P Snead
Mar 18, 2015·The Annals of Otology, Rhinology, and Laryngology·Yoh-Ichiro IwasaShin-Ichi Usami
Jan 1, 2000·Pflügers Archiv : European journal of physiology·Jagoda Vatovec
Citations
Sep 2, 2020·Journal of Personalized Medicine·Megan BootheNathaniel Robin
Sep 25, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kevin T BoothShelley D Smith
Mar 23, 2021·Journal of Healthcare Engineering·Yang LiuYunlong Yang
Jun 30, 2021·BMC Medical Genomics·Kan WuQiujing Zhang
Jul 10, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Fadlullah BathBrianne B Roby