Auditory phenotype of Smith-Lemli-Opitz syndrome
- PMID: 33529473
- PMCID: PMC7994936
- DOI: 10.1002/ajmg.a.62087
Auditory phenotype of Smith-Lemli-Opitz syndrome
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation and intellectual disability syndrome resulting from variants in DHCR7. Auditory characteristics of persons with SLOS have been described in limited case reports but have not been systematically evaluated. The objective of this study is to describe the auditory phenotype in SLOS. Age- and ability-appropriate hearing evaluations were conducted on 32 patients with SLOS. A subset of 21 had auditory brainstem response testing, from which an auditory neural phenotype is described. Peripheral or retrocochlear auditory dysfunction was observed in at least one ear of 65.6% (21) of the patients in our SLOS cohort. The audiometric phenotype was heterogeneous and included conductive, mixed, and sensorineural hearing loss. The most common presentation was a slight to mild conductive hearing loss, although profound sensorineural hearing loss was also observed. Abnormal auditory brainstem responses indicative of retrocochlear dysfunction were identified in 21.9% of the patients. Many were difficult to test behaviorally and required objective assessment methods to estimate hearing sensitivity. Individuals with SLOS are likely to have hearing loss that may impact communication, including speech and language development. Routine audiologic surveillance should be conducted to ensure prompt management of hearing loss.
Keywords: SLOS; Smith-Lemli-Opitz syndrome; auditory; hearing loss; sensorineural.
© 2021 Wiley Periodicals LLC.
Conflict of interest statement
CONFLICT OF INTEREST
All co-authors reviewed and revised the manuscript. The authors have no conflict of interests to declare with the exception of Simona Biaconi a consultant for Ultragenyx Pharmaceutical Inc. and her husband as an employee of Neurocrine Biosciences Inc., neither of which has SLOS is their rare disease portfolio.
Figures
Similar articles
-
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1. BMC Med Genet. 2016. PMID: 26969503 Free PMC article.
-
Adrenal function in Smith-Lemli-Opitz syndrome.Am J Med Genet A. 2011 Nov;155A(11):2732-8. doi: 10.1002/ajmg.a.34271. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990131 Free PMC article.
-
Recent insights into the Smith-Lemli-Opitz syndrome.Clin Genet. 2005 Nov;68(5):383-91. doi: 10.1111/j.1399-0004.2005.00515.x. Clin Genet. 2005. PMID: 16207203 Free PMC article. Review.
-
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Am J Med Genet C Semin Med Genet. 2012. PMID: 23059950 Review.
-
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16. Birth Defects Res. 2020. PMID: 31840946 Free PMC article.
Cited by
-
Impact of cholesterol homeostasis within cochlear cells on auditory development and hearing loss.Front Cell Neurosci. 2024 Jan 4;17:1308028. doi: 10.3389/fncel.2023.1308028. eCollection 2023. Front Cell Neurosci. 2024. PMID: 38239289 Free PMC article. Review.
References
-
- Bukelis I, Porter FD, Zimmerman A, & Tierney E (2007). Smith-Lemli-Opitz syndrome and autism spectrum disorder. The American Journal of Psychiatry, 164(11), 1655–1661. - PubMed
-
- Danesh AA, Lang D, Kaf W, Andreassen WD, Scott J, & Eshraghi AA (2015). Tinnitus and hyperacusis in autism spectrum disorders with emphasis on high functioning individuals diagnosed with Asperger's syndrome. International Journal of Pediatric Otorhinolaryngology, 79(10), 1683–1688. 10.1016/j.ijporl.2015.07.024 - DOI - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Miscellaneous