Auditory Phenotype of Smith–Magenis Syndrome 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. ... Research Article
Research Article  |   April 14, 2017
Auditory Phenotype of Smith–Magenis Syndrome
 
Author Affiliations & Notes
  • Megan A. Brendal
    Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
  • Kelly A. King
    Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
  • Christopher K. Zalewski
    Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
  • Brenda M. Finucane
    Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania
  • Wendy Introne
    Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
  • Carmen C. Brewer
    Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
  • Ann C. M. Smith
    Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
  • Disclosure: The authors have declared that no competing interests existed at the time of publication.
    Disclosure: The authors have declared that no competing interests existed at the time of publication. ×
  • Correspondence to Carmen C. Brewer: brewerc@nidcd.nih.gov
  • Editor: Nancy Tye-Murray
    Editor: Nancy Tye-Murray×
  • Associate Editor: Suzanne Purdy
    Associate Editor: Suzanne Purdy×
Article Information
Hearing Disorders / Special Populations / Genetic & Congenital Disorders / Hearing / Research Articles
Research Article   |   April 14, 2017
Auditory Phenotype of Smith–Magenis Syndrome
Journal of Speech, Language, and Hearing Research, April 2017, Vol. 60, 1076-1087. doi:10.1044/2016_JSLHR-H-16-0024
History: Received January 20, 2016 , Revised July 22, 2016 , Accepted October 16, 2016
 
Journal of Speech, Language, and Hearing Research, April 2017, Vol. 60, 1076-1087. doi:10.1044/2016_JSLHR-H-16-0024
History: Received January 20, 2016; Revised July 22, 2016; Accepted October 16, 2016

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.

Acknowledgments
This work was supported by the Intramural Research Programs of the National Human Genome Research Institute and the National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Department of Health and Human Services. A 2001 National Institutes of Health Clinical Center Bench-to-Bedside grant awarded to principal investigator/coauthor, A. C. M. Smith established the SMS multidisciplinary research team that laid the foundation for this research. The first author, M. A. Brendal, was supported by the National Institutes of Health Academy Enrichment Program within the Office of Intramural Training & Education. The authors would like to thank the individuals who took part in the study, their families, and their clinicians for dedicating their time. The authors also extend gratitude to Jennifer Bentley and Kethia Harding for their contributions to earlier phases of this study. We appreciate the careful review of the manuscript by Tracy Fitzgerald and Talah Wafa.
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