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. 2017 Apr 14;60(4):1076-1087.
doi: 10.1044/2016_JSLHR-H-16-0024.

Auditory Phenotype of Smith-Magenis Syndrome

Megan A Brendal  1 , Kelly A King  1 , Christopher K Zalewski  1 , Brenda M Finucane  2 , Wendy Introne  3 , Carmen C Brewer  1 , Ann C M Smith  3
Affiliations

Auditory Phenotype of Smith-Magenis Syndrome

Megan A Brendal et al. J Speech Lang Hear Res. .

Abstract

Purpose: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype.

Method: Hearing-related data were collected for 133 individuals with SMS aged 1-49 years. Audiogram data (97 participants) were used for cross-sectional and longitudinal analyses. Caregivers completed a sound sensitivity survey for 98 individuals with SMS and a control group of 24 unaffected siblings.

Results: Nearly 80% of participants with interpretable audiograms (n = 76) had hearing loss, which was typically slight to mild in degree. When hearing loss type could be determined (40 participants), sensorineural hearing loss (48.1%) occurred most often in participants aged 11-49 years. Conductive hearing loss (35.2%) was typically observed in children aged 1-10 years. A pattern of fluctuating and progressive hearing decline was documented. Hyperacusis was reported in 73.5% of participants with SMS compared with 12.5% of unaffected siblings.

Conclusions: This study offers the most comprehensive characterization of the auditory phenotype of SMS to date. The auditory profile in SMS is multifaceted and can include a previously unreported manifestation of hyperacusis. Routine audiologic surveillance is recommended as part of standard clinical care.

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Figures

Figure 1.
Figure 1.
Flowchart detailing the data exclusion process for individuals with Smith–Magenis syndrome (SMS) and final sample sizes used in various analyses. HL = hearing loss. *Required at least four audiograms over, minimally, a 2-year period. †On the basis of the most recent and most complete audiogram.
Figure 2.
Figure 2.
Bivariate scatterplots and linear regression lines for air conduction pure-tone thresholds for individual ears against age. Linear regressions for all ears are represented by the dotted line, and the subset excluding an outlier by age (open circle) is represented by the solid line. The coefficient of determination (R 2) is shown for each frequency. *Significant at p ≤ .05.
Figure 3.
Figure 3.
Bivariate scatterplots and linear regression lines for bone conduction pure-tone thresholds for individual ears against age. Linear regressions for all ears are represented by the dotted line, and the subset excluding an outlier by age (open circle) is represented by the solid line. The coefficient of determination (R 2) is shown for each frequency. *Significant at p ≤ .05. Slopes for the significant linear regressions in dB per year are shown as an inset in the lower right corner.
Figure 4.
Figure 4.
Four-frequency pure-tone averages by air conduction plotted longitudinally for the worse-hearing ear and type of hearing loss for the nine individuals with Smith–Magenis syndrome who had at least four threshold audiograms over, minimally, a 2-year period. Hearing loss type is indicated by symbols as follows: normal hearing = open diamond; conductive = open circle; mixed = filled triangle; sensorineural = filled square; unknown type = asterisk.
See this image and copyright information in PMC

References

    1. Andersson G., Lindvall N., Hursti T., & Carlbring P. (2002). Hypersensitivity to sound (hyperacusis): A prevalence study conducted via the Internet and post. International Journal of Audiology, 41, 545–554. - PubMed
    1. Bess F. H., Dodd-Murphy J., & Parker R. A. (1998). Children with minimal sensorineural hearing loss: Prevalence, educational performance, and functional status. Ear and Hearing, 19, 339–354. - PubMed
    1. Boudreau E. A., Johnson K. P., Jackman A. R., Blancato J., Huizing M., Bendavid C., … Magenis R. E. (2009). Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. American Journal of Medical Genetics Part A, 149A, 1382–1391. - PMC - PubMed
    1. Clark J. G. (1981). Uses and abuses of hearing loss classification. ASHA: A Journal of the American Speech-Language-Hearing Association, 23, 493–500. - PubMed
    1. Cohen M., Marriage J., & Rosen S. (2006). Hearing impairment and sensitivity to sound in Williams syndrome. Paper presented at the Association for Research in Otolaryngology, Baltimore, MD.

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