title: Hearing loss in Pompe disease revisited: results from a study of 24 children.
abstract: Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. 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.
authors.affiliation: Department of Pediatrics, Division of Metabolic Diseases and Genetics, Erasmus MC University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.
authors.forename: Carine I
authors.initials: CI
authors.lastname: van Capelle
authors.forename: Andre
authors.initials: A
authors.lastname: Goedegebure
authors.forename: Nienke C
authors.initials: NC
authors.lastname: Homans
authors.forename: Hans L J
authors.initials: HL
authors.lastname: Hoeve
authors.forename: Arnold J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
mesh_terms: D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D012048:Correction of Hearing Impairment; D056947:Enzyme Replacement Therapy; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D005838:Genotype; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology / Q000534:rehabilitation; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology / Q000534:rehabilitation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016018:Least-Squares Analysis; D008297:Male; D009426:Netherlands; D010641:Phenotype; D011446:Prospective Studies; D013997:Time Factors; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000627:therapeutic use
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases