Auditory Phenotype of Smith-Magenis Syndrome

Autor/inn/en	Brendal, Megan A.; King, Kelly A.; Zalewski, Christopher K.; Finucane, Brenda M.; Introne, Wendy; Brewer, Carmen C.; Smith, Ann C. M.
Titel	Auditory Phenotype of Smith-Magenis Syndrome
Quelle	In: Journal of Speech, Language, and Hearing Research, 60 (2017) 4, S.1076-1087 (12 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1092-4388
DOI	10.1044/2016_JSLHR-H-16-0024
Schlagwörter	Genetic Disorders; Audiology; Hearing Impairments; Age Differences; Children; Adolescents; Adults; Symptoms (Individual Disorders); Intellectual Disability; Physical Disabilities; Sleep; Longitudinal Studies; Siblings + Suchen Sie Ihr Suchwort? Audiologie; Hearing impairment; Hörbehinderung; Age; Difference; Age difference; Altersunterschied; Child; Kind; Kinder; Adolescent; Adolescence; Adoleszenz; Jugend; Jugendalter; Jugendlicher; Psychiatrische Symptomatik; Intellect; Disability; Disabilities; Verstand; Behinderung; Physical handicap; Körperbehinderung; Schlaf; Longitudinal study; Longitudinal method; Longitudinal methods; Längsschnittuntersuchung; Sibling; Geschwister
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. (As Provided).
Anmerkungen	American Speech-Language-Hearing Association. 2200 Research Blvd #250, Rockville, MD 20850. Tel: 301-296-5700; Fax: 301-296-8580; e-mail: slhr@asha.org; Web site: http://jslhr.pubs.asha.org
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2020/1/01