Improvement in hearing loss over time in Cornelia de Lange syndrome

Kevin C Janek, David F Smith, Antonie D Kline, James R Benke, Mei-Ling Chen, Amy Kimball, Stacey L Ishman
International Journal of Pediatric Otorhinolaryngology 2016, 87: 203-7

OBJECTIVES: Patients with Cornelia de Lange Syndrome (CdLS) are reported to have conductive (CHL) and sensorineural hearing loss (SNHL), but there is little information pertaining to the progression of hearing loss over time. The goal of this study was to examine the prevalence of CHL and SNHL in adults and children with CdLS and look for changes in SNHL over time.

METHODS: Retrospective chart review of patients with CdLS presenting to a CdLS clinic was conducted. Also, a written survey of clinical concerns was collected from additional patients/families seen in the clinic and through the Cornelia de Lange Foundation.

RESULTS: Seventy-eight patients (50% female) were included in the chart review. Mean age was 16.8 ± 11.4 years (range-0.6-50 years) and mean age at diagnosis of hearing loss was 4.6 ± 10.6 years (n = 26). Five patients (6.4%) had severe to profound SNHL that improved with time, including 2 who had complete normalization of audiogram results. Thirty-five families/patients completed the clinical survey, and 45.5% of the families reported a noticeable improvement of hearing over time.

CONCLUSIONS: Conductive hearing loss and SNHL are common in CdLS. More than 50% of the patients seen in an adult CdLS clinic reported improvement in hearing loss over time, and a subset of patients had an improvement in SNHL. In light of these findings, we recommend longitudinal evaluations of hearing loss in these patients with both auditory brainstem response and otoacoustic emissions testing if SNHL is identified.

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