Literature DB >> 23698626

Audiologic and vestibular findings in Wolfram syndrome.

Roanne K Karzon1, Timothy E Hullar.   

Abstract

OBJECTIVES: Assessment of auditory and vestibular function in Wolfram Syndrome (WS) patients, using a standardized protocol.
DESIGN: Prospective cohort study of 11 patients using otoscopic inspection, tympanometry, otoacoustic emissions, pure tones, speech in noise (SIN), the Speech Intelligibility Index, and rotational chair testing.
RESULTS: Mean SNHL diagnosis was 7.3 years with 55% prevalence. Four patients with a Speech Intelligibility Index less than 0.75 (better ear) routinely used bilateral amplification devices. Two patients with normal-hearing sensitivity exhibited abnormal SIN scores. The only patient with significant vestibular dysfunction also had a distinctive low-frequency component to her SNHL.
CONCLUSIONS: Hearing loss may occur earlier than previously suspected, and comprehensive testing including SIN testing may reveal deficits not apparent with pure-tone testing. Particular configurations of hearing loss may indicate a need for comprehensive vestibular assessment. Because SNHL can be the first symptom of WS, audiologists and otolaryngologists should be vigilant about referring patients with hearing loss for ophthalmologic examination.

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Year:  2013        PMID: 23698626      PMCID: PMC4142763          DOI: 10.1097/AUD.0b013e3182944db7

Source DB:  PubMed          Journal:  Ear Hear        ISSN: 0196-0202            Impact factor:   3.570


  14 in total

1.  [PRIMARY OPTIC ATROPHY AND NEUROGENIC DEAFNESS IN JUVENILE DIABETES. (APROPOS OF 3 CASES)].

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2.  Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

Authors:  Lars Hansen; Hans Eiberg; Timothy Barrett; Toke Bek; Per Kjaersgaard; Lisbeth Tranebjaerg; Thomas Rosenberg
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3.  A validation and potential clinical application of multivariate analyses of distortion-product otoacoustic emission data.

Authors:  Michael P Gorga; Darcia M Dierking; Tiffany A Johnson; Kathryn L Beauchaine; Cassie A Garner; Stephen T Neely
Journal:  Ear Hear       Date:  2005-12       Impact factor: 3.570

Review 4.  Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.

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Journal:  Pediatr Diabetes       Date:  2009-12-14       Impact factor: 4.866

5.  Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Authors:  Ronald J E Pennings; Steven J H Bom; Kim Cryns; Kris Flothmann; Patrick L M Huygen; Hannie Kremer; Guy Van Camp; Cor W R J Cremers
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2003-04

6.  Otologic findings of DIDMOAD syndrome.

Authors:  K Higashi
Journal:  Am J Otol       Date:  1991-01

Review 7.  Wolfram (DIDMOAD) syndrome.

Authors:  T G Barrett; S E Bundey
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

8.  Wolfram syndrome.

Authors:  David Megighian; Marina Savastano
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2004-02       Impact factor: 1.675

9.  Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.

Authors:  Ronald J E Pennings; Patrick L M Huygen; Jody M W van den Ouweland; Kim Cryns; Lambert D Dikkeschei; Guy Van Camp; Cor W R J Cremers
Journal:  Audiol Neurootol       Date:  2004 Jan-Feb       Impact factor: 1.854

10.  Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature.

Authors:  E Simsek; T Simsek; S Tekgül; S Hosal; V Seyrantepe; G Aktan
Journal:  Acta Paediatr       Date:  2003       Impact factor: 2.299

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  10 in total

Review 1.  Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome.

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Journal:  Endocrine       Date:  2021-02-01       Impact factor: 3.633

2.  Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome.

Authors:  James Hoekel; Smith Ann Chisholm; Amal Al-Lozi; Tamara Hershey; Lawrence Tychsen
Journal:  J AAPOS       Date:  2014-10-21       Impact factor: 1.220

3.  Longitudinal hearing loss in Wolfram syndrome.

Authors:  Roanne Karzon; Anagha Narayanan; Ling Chen; Judith E C Lieu; Tamara Hershey
Journal:  Orphanet J Rare Dis       Date:  2018-06-27       Impact factor: 4.123

4.  Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry.

Authors:  Heather M Lugar; Jonathan M Koller; Jerrel Rutlin; Sarah A Eisenstein; Olga Neyman; Anagha Narayanan; Ling Chen; Joshua S Shimony; Tamara Hershey
Journal:  Sci Rep       Date:  2019-04-12       Impact factor: 4.379

5.  A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom.

Authors:  Sana Eljamel; Wrik Ghosh; Sachin De Stone; Annabel Griffiths; Timothy Barrett; Richard Thompson
Journal:  Orphanet J Rare Dis       Date:  2019-07-31       Impact factor: 4.123

6.  Genetics Influences Drug Consumption in Medication Overuse Headache, Not in Migraine: Evidence From Wolframin His611Arg Polymorphism Analysis.

Authors:  Cherubino Di Lorenzo; Giorgio Di Lorenzo; Gianluca Coppola; Vincenzo Parisi; Gaetano S Grieco; Filippo Maria Santorelli; Esterina Pascale; Francesco Pierelli
Journal:  Front Neurol       Date:  2021-01-22       Impact factor: 4.003

7.  Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Authors:  Giuseppina Salzano; Luciana Rigoli; Mariella Valenzise; Roberto Chimenz; Stefano Passanisi; Fortunato Lombardo
Journal:  Int J Environ Res Public Health       Date:  2022-01-04       Impact factor: 3.390

8.  Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome.

Authors:  Sarah A Eisenstein; Raveena S Boodram; Courtney L Sutphen; Heather M Lugar; Brian A Gordon; Bess A Marshall; Fumihiko Urano; Anne M Fagan; Tamara Hershey
Journal:  Front Neurosci       Date:  2022-04-12       Impact factor: 4.677

Review 9.  Wolfram Syndrome: Diagnosis, Management, and Treatment.

Authors:  Fumihiko Urano
Journal:  Curr Diab Rep       Date:  2016-01       Impact factor: 4.810

10.  Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.

Authors:  Heather M Lugar; Jonathan M Koller; Jerrel Rutlin; Bess A Marshall; Kohsuke Kanekura; Fumihiko Urano; Allison N Bischoff; Joshua S Shimony; Tamara Hershey
Journal:  Sci Rep       Date:  2016-02-18       Impact factor: 4.379

  10 in total

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