Audiological profile and cochlear functionality in Williams syndrome.
Liliane Aparecida Fagundes Silva, Rachel Sayuri Honjo Kawahira, Chong Ae Kim and 1 others
PMID 35043861WHAT IT FOUND
Half of children with Williams syndrome had hearing loss, mostly mild and high-frequency.
Even those with normal standard tests showed reduced cochlear responses on otoacoustic emissions. Standard screening misses this damage; specific cochlear testing is needed to catch it early.
Key findings
0150% of the participants with Williams syndrome had hearing loss, predominantly mild sensorineural loss at high frequencies.
02Participants with Williams syndrome had significantly higher auditory thresholds than controls across all tested frequencies.
03Even among ears with no detectable hearing loss, participants with Williams syndrome had a much higher rate of absent otoacoustic emissions and lower signal-to-noise ratios than controls.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study did not test frequencies above 8 kHz, which is where the cochlear damage in Williams syndrome is thought to begin, potentially underestimating the true prevalence of early loss. The sample size was small (22 participants), limiting the generalizability of the findings. The cross-sectional design cannot confirm the progression rate of the hearing loss, although early onset was noted.
Declared interests
The study was supported by CAPES (Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil). No conflicts of interest were declared.
The easy way to misread this
Do not assume a child with Williams syndrome has normal hearing just because they pass a standard pure tone audiometry. This study showed that significant cochlear dysfunction can exist with normal thresholds, so a lack of response on otoacoustic emissions indicates real pathology even if the behavioral test is 'normal'.