Hearing loss in Pompe disease revisited: results from a study of 24 children

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 hea...

Full description

Saved in:

Bibliographic Details
Published in:	Journal of inherited metabolic disease 2010-10, Vol.33 (5), p.597-602
Main Authors:	van Capelle, Carine I., Goedegebure, Andre, Homans, Nienke C., Hoeve, Hans L. J., Reuser, Arnold J., van der Ploeg, Ans T.
Format:	Article
Language:	eng
Subjects:	Adolescent alpha-Glucosidases - therapeutic use Audiometry, Pure-Tone Biochemistry Biological and medical sciences Carbohydrates (enzymatic deficiencies). Glycogenosis Child Child, Preschool Correction of Hearing Impairment Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Enzyme Replacement Therapy Errors of metabolism Evoked Potentials, Auditory, Brain Stem Female Genotype Glycogen Storage Disease Type II - complications Glycogen Storage Disease Type II - drug therapy Glycogen Storage Disease Type II - enzymology Glycogen Storage Disease Type II - genetics Hearing Loss, Conductive - etiology Hearing Loss, Conductive - genetics Hearing Loss, Conductive - physiopathology Hearing Loss, Conductive - rehabilitation Hearing Loss, Mixed Conductive-Sensorineural - etiology Hearing Loss, Mixed Conductive-Sensorineural - genetics Hearing Loss, Mixed Conductive-Sensorineural - physiopathology Hearing Loss, Mixed Conductive-Sensorineural - rehabilitation Human Genetics Humans Infant Infant, Newborn Internal Medicine Least-Squares Analysis Male Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Netherlands Non tumoral diseases Original Original Article Otorhinolaryngology. Stomatology Pediatrics Phenotype Prospective Studies Time Factors Treatment Outcome
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	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.
ISSN:	0141-8955 1573-2665