Auditory Phenotype of Smith-Magenis Syndrome

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Audiometry
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Female
  • Hearing Loss / classification
  • Hearing Loss / genetics
  • Hearing Loss / physiopathology
  • Hearing*
  • Humans
  • Hyperacusis / genetics
  • Hyperacusis / physiopathology
  • Infant
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Phenotype
  • Prospective Studies
  • Retrospective Studies
  • Siblings
  • Smith-Magenis Syndrome / classification
  • Smith-Magenis Syndrome / genetics
  • Smith-Magenis Syndrome / physiopathology*
  • Surveys and Questionnaires
  • Young Adult

Grants and funding

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.