title: Auditory Phenotype of Smith-Magenis Syndrome.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Megan A
authors.initials: MA
authors.lastname: Brendal
authors.affiliation: Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: King
authors.affiliation: Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Christopher K
authors.initials: CK
authors.lastname: Zalewski
authors.affiliation: Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania.
authors.forename: Brenda M
authors.initials: BM
authors.lastname: Finucane
authors.affiliation: Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Wendy
authors.initials: W
authors.lastname: Introne
authors.affiliation: Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Carmen C
authors.initials: CC
authors.lastname: Brewer
authors.affiliation: Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Ann C M
authors.initials: ACM
authors.lastname: Smith
mesh_terms: D000293:Adolescent; D000328:Adult; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006309:Hearing; D034381:Hearing Loss / Q000145:classification / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D012001:Hyperacusis / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011446:Prospective Studies; D012189:Retrospective Studies; D035781:Siblings; D058496:Smith-Magenis Syndrome / Q000145:classification / Q000235:genetics / Q000503:physiopathology*; D011795:Surveys and Questionnaires; D055815:Young Adult