Objective To determine whether elementary school-aged children with unilateral hearing loss (UHL) demonstrate significantly worse language skills than their sibling controls with normal hearing, and whether they are more likely to receive extra assistance or resources at school. Patients and Methods Case-control study of age 6-12 year old children with UHL compared with sibling controls (74 matched pairs, total n=148), all with normal cognition by parental report. Scores on the oral portion of the Oral and Written Language Scales (OWLS) were the primary outcome measure. Potential confounders were evaluated for their effect on the OWLS scores. Multivariable analysis was used to determine whether UHL independently predicted OWLS scores. Results Children with UHL had significantly worse language comprehension (91 vs. 98, P = 0.003), oral expression (94 vs. 101, P = 0.007), and oral composite (90 vs. 99, P <0.001) scores than their siblings with normal hearing. Multivariable regression models demonstrated that UHL was an independent predictor of these OWLS scores, with moderate effect sizes of 0.3 to 0.7. Family income and maternal education level were also independent predictors of oral expression and oral composite scores. No differences were found between children with right or left UHL, nor with varying severity of hearing loss. Children with UHL were more likely to have an Individualized Education Plan (OR 4.4, 95% CI 2.0-9.5) and to have received speech-language therapy (OR 2.6, 95% CI 1.3-5.4). Conclusions School-aged children with UHL demonstrated worse oral language scores compared with siblings with normal hearing. These findings suggest that the common practice of withholding hearing-related accommodations from children with UHL should be reconsidered and studied, and that parents, pediatricians, and educators be informed about the deleterious effects of UHL on oral language skills.

BackgroundWolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin, thought to be involved in the regulation of ER stress. This paper reports a cross section of data from the Washington University WFS Research Clinic, a longitudinal study to collect detailed phenotypic data on a group of young subjects in preparation for studies of therapeutic interventions.MethodsEighteen subjects (ages 5.9–25.8, mean 14.2 years) with genetically confirmed WFS were identified through the Washington University International Wolfram Registry. Examinations included: general medical, neurologic, ophthalmologic, audiologic, vestibular, and urologic exams, cognitive testing and neuroimaging.ResultsSeventeen (94%) had diabetes mellitus with the average age of diabetes onset of 6.3 ± 3.5 years. Diabetes insipidus was diagnosed in 13 (72%) at an average age of 10.6 ± 3.3 years. Seventeen (94%) had optic disc pallor and defects in color vision, 14 (78%) had hearing loss and 13 (72%) had olfactory defects, eight (44%) had impaired vibration sensation. Enuresis was reported by four (22%) and nocturia by three (17%). Of the 11 tested for bladder emptying, five (45%) had elevated post-void residual bladder volume.ConclusionsWFS causes multiple endocrine and neurologic deficits detectable on exam, even early in the course of the disease. Defects in olfaction have been underappreciated. The proposed mechanism of these deficits in WFS is ER stress-induced damage to neuronal and hormone-producing cells. This group of subjects with detailed clinical phenotyping provides a pool for testing proposed treatments for ER stress. Longitudinal follow-up is necessary for establishing the natural history and identifying potential biomarkers of progression.

No abstract