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Auditory function has not been studied in children with milder forms of the disease. We analyzed repetitive auditory brainstem response measurements and pure tone audiometry in 24 children with Pompe disease. Only 1 of 13 patients with milder phenotypes showed recurrent conductive hearing loss, while 10 out of 11 classic infantile patients had sensorineural hearing defects. These patients also had a high prevalence of conductive hearing loss. Five patients showed evidence of mild retrocochlear pathology, suggestive of glycogen accumulation in the central nervous system. Hearing loss persisted during therapy in all patients. The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development.<\/jats:p>","DOI":"10.1007\/s10545-010-9144-0","type":"journal-article","created":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T06:56:09Z","timestamp":1277967369000},"page":"597-602","source":"Crossref","is-referenced-by-count":50,"title":["Hearing loss in Pompe disease revisited: results from a study of 24 children"],"prefix":"10.1002","volume":"33","author":[{"given":"Carine I.","family":"van Capelle","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center\u2013Sophia Children's Hospital Postbus 2060 Rotterdam 3000 CB the Netherlands"},{"name":"Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre","family":"Goedegebure","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Erasmus MC University Medical Center\u2010Sophia Children's Hospital Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke C.","family":"Homans","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology, Erasmus MC University Medical Center\u2010Sophia Children's Hospital Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans L. 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