Acke, Frederic

De Leenheer, Els

Dhooge, Ingeborg

Orphanet Journal of Rare Diseases

English

Ghent University Academic Bibliography

HEARING IMPAIRMENT IN STICKLER SYNDROME: A SYSTEMATIC REVIEW  Acke F, Dhooge I, De Leenheer E Ghent University / Ghent University Hospital, Department of Otorhinolaryngology Research Foundation Flanders  Abstract OBJECTIVES: Stickler syndrome is a connective tissue disorder characterised by ocular, skeletal, orofacial and auditory defects. Autosomal dominant Stickler syndrome is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2. In light of our own future study concerning hearing impairment and the link with the mutated gene and mutation type in Stickler patients, a systematic review of the literature on the subject is presented. METHODOLOGY: English-language literature was reviewed through searches of PubMed and Web of Science, in order to find relevant articles describing auditory features in Stickler patients, along with genotype. The systematic review was conducted according to the PRISMA guidelines. RESULTS: 315 patients (108 families) individually described in 40 articles were included. Hearing loss was found in 63.8%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (70.2%). Conductive (12.2%) and mixed (17.7%) hearing loss was primarily found in patients with young age or a history of palatal defect. Overall, mutations in COL11A1 (80.0%) en COL11A2 (93.3%) seem to be more frequently associated with hearing impairment than mutations in COL2A1 (54.2%). CONCLUSIONS: Hearing impairment in patients with Stickler syndrome is common. Sensorineural hearing loss predominates, but also conductive hearing loss, especially in children and patients with a palatal defect, can occur. The distinct disease-causing collagen genes lead to a different prevalence of hearing impairment, but still large phenotypic variation exists. Regular auditory follow-up of Stickler patients is strongly advised. 

Hearing impairment in Stickler syndrome: a systematic review

https://biblio.ugent.be/publication/2133663/file/2133674

Hearing impairment in Stickler syndrome: a systematic review

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Ghent University Academic Bibliography