Advanced search

Hearing impairment in Stickler syndrome: a systematic review

Frederic Acke (UGent) , Ingeborg Dhooge (UGent) , Fransiska Malfait (UGent) and Els De Leenheer (UGent)
Author
Organization
Abstract
BACKGROUND. Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. Given its quite high prevalence, every cleft palate team will have some Stickler patients. The cause of this disease is a mutation in a collagen gene (mainly COL2A1, COL11A1 and COL11A2). The auditory phenotype in Stickler syndrome, as well as the contribution of cleft palate to this, has been inconsistently reported. METHODS. English-language literature was reviewed through searches of PubMed and Web of Science, in order to find all relevant articles describing auditory features in Stickler patients, along with genotype. Eventual palatal defects were collected as well. Prevalences of hearing loss and cleft palate were calculated and correlated with the different affected genes. RESULTS. 313 individually described patients out of 102 unrelated families were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients and patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). Concerning palatal defects (42.6%), no differences between the distinct genes were found. CONCLUSION. Hearing impairment in patients with Stickler syndrome is common. Conductive hearing loss may occur, especially in children and patients with a palatal defect. However, sensorineural hearing loss predominates. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired.

Citation

Please use this url to cite or link to this publication:

Chicago
Acke, Frederic, Ingeborg Dhooge, Fransiska Malfait, and Els De Leenheer. 2013. “Hearing Impairment in Stickler Syndrome: a Systematic Review.” In NVSCA, 28e Najaarsvergadering, Abstracts. Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen (NVSCA).
APA
Acke, F., Dhooge, I., Malfait, F., & De Leenheer, E. (2013). Hearing impairment in Stickler syndrome: a systematic review. NVSCA, 28e Najaarsvergadering, Abstracts. Presented at the 28e NVSCA najaarsvergadering : Palatal challenges, Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen (NVSCA).
Vancouver
1.
Acke F, Dhooge I, Malfait F, De Leenheer E. Hearing impairment in Stickler syndrome: a systematic review. NVSCA, 28e Najaarsvergadering, Abstracts. Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen (NVSCA); 2013.
MLA
Acke, Frederic, Ingeborg Dhooge, Fransiska Malfait, et al. “Hearing Impairment in Stickler Syndrome: a Systematic Review.” NVSCA, 28e Najaarsvergadering, Abstracts. Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen (NVSCA), 2013. Print.
@inproceedings{4185258,
  abstract     = {BACKGROUND. Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. Given its quite high prevalence, every cleft palate team will have some Stickler patients. The cause of this disease is a mutation in a collagen gene (mainly COL2A1, COL11A1 and COL11A2). The auditory phenotype in Stickler syndrome, as well as the contribution of cleft palate to this, has been inconsistently reported.
METHODS. English-language literature was reviewed through searches of PubMed and Web of Science, in order to find all relevant articles describing auditory features in Stickler patients, along with genotype. Eventual palatal defects were collected as well. Prevalences of hearing loss and cleft palate were calculated and correlated with the different affected genes.
RESULTS. 313 individually described patients out of 102 unrelated families were included. Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%). Conductive (14.1%) and mixed (18.1%) hearing loss was primarily found in young patients and patients with a palatal defect. Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (52.2%). Concerning palatal defects (42.6%), no differences between the distinct genes were found.
CONCLUSION. Hearing impairment in patients with Stickler syndrome is common. Conductive hearing loss may occur, especially in children and patients with a palatal defect. However, sensorineural hearing loss predominates. Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired.},
  author       = {Acke, Frederic and Dhooge, Ingeborg and Malfait, Fransiska and De Leenheer, Els},
  booktitle    = {NVSCA, 28e Najaarsvergadering, Abstracts},
  language     = {eng},
  location     = {Ghent, Belgium},
  publisher    = {Nederlandse Vereniging voor Schisis en Craniofaciale Afwijkingen (NVSCA)},
  title        = {Hearing impairment in Stickler syndrome: a systematic review},
  year         = {2013},
}