ArticleOrphanet journal of rare diseases2018
Longitudinal hearing loss in Wolfram syndrome.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 40 citations in OpenAlex.
- Hypotheses on physiopathogenic mechanisms of fecal incontinence in Wolfram syndrome.IBRO neuroscience reports · 2026Article
- Neurofilament light chain but not glial fibrillary acidic protein serum levels are elevated in Wolfram syndrome.Frontiers in neuroscience · 2026Review
- Mutations in unfolded protein response regulator ATF6 cause hearing and vision loss syndrome.The Journal of clinical investigation · 2025Article
- Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.Healthcare (Basel, Switzerland) · 2023Article
- Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.International journal of molecular sciences · 2023Review
- Enhancement of taste by retronasal odors in patients with Wolfram syndrome and decreased olfactory function.Chemical senses · 2023Article
- Treatment with the dual-incretin agonist DA-CH5 demonstrates potent therapeutic effect in a rat model of Wolfram Syndrome.Frontiers in endocrinology · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.American journal of ophthalmology · 2022Article
- Wolfram Syndrome 1: From Genetics to Therapy.International journal of environmental research and public health · 2022Review
- Longitudinal progression of diabetes mellitus in Wolfram syndrome: The Washington University Wolfram Research Clinic experience.Pediatric diabetes · 2022Observational
- Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.International journal of environmental research and public health · 2022Article
- Psychiatric Diagnoses and Medications in Wolfram Syndrome.Scandinavian journal of child and adolescent psychiatry and psychology · 2022Article
- Article
- Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review.International journal of environmental research and public health · 2021Review
- Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.International journal of environmental research and public health · 2021Review
- Identification of Three Novel and One Known Mutation in theJournal of clinical research in pediatric endocrinology · 2021Article
- Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.Endocrine · 2020Article
- Taste and smell function in Wolfram syndrome.Orphanet journal of rare diseases · 2020Article
- Sleep disturbances in Wolfram syndrome.Orphanet journal of rare diseases · 2019Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundWolfram syndrome (WFS) is a rare autosomal recessive disease with clinical manifestations of diabetes mellitus (DM), diabetes insipidus (DI), optic nerve atrophy (OA) and sensorineural hearing loss (SNHL). Although SNHL is a key symptom of WFS, there is limited information on its natural history using standardized measures. Such information is important for clinical care and determining its use as an outcome measure in clinical trials.
methodsStandardized audiologic measures, including pure-tone testing, tympanometry, speech perception, and the unaided Speech Intelligibility Index (SII) were assessed in patients with confirmed WFS annually. Mixed model analyses were used to examine main effects of age, time or interactions for pure tone average (PTA), high frequency average (HFA) and SII.
resultsForty WFS patients were evaluated between 1 and 6 times. Mean age at initial enrollment was 13.5 years (SD = 5.6). Patients were classified as having normal hearing (n = 10), mild-to-severe (n = 24) or profound SNHL (n = 6). Mean age of diagnosis for SNHL was 8.3 years (SD = 5.1) with 75% prevalence. HFA worsened over time for both ears, and SII worsened over time in the worse ear, with greater decline in both measures in younger patients. Average estimated change over 1 year for all measures was in the subclinical range and power analyses suggest that 100 patients would be needed per group (treatment vs. placebo) to detect a 60% reduction in annual change of HFA over 3 years. If trials focused on just those patients with SNHL, power estimates suggest 55 patients per group would be sufficient.
conclusionsMost patients had a slow progressive SNHL emerging in late childhood. Change over time with standard audiologic tests (HFA, SII) was small and would not be detectable for at least 2 years in an individual. Relatively large sample sizes would be necessary to detect significant impact on hearing progression in a clinical trial. Hearing function should be monitored clinically in WFS to provide appropriate intervention. Because SNHL can occur very early in WFS, audiologists and otolaryngologists should be aware of and refer for later emerging symptoms.
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