title: Feasibility of cochlear implantation in Mucopolysaccharidosis.
abstract: Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic disorders resulting from deficiencies of particular enzymes involved in the breakdown of glycosaminoglycans. Amongst the manifestations of MPS within the head and neck patients may develop conductive, mixed or sensorineural hearing loss.
  
  
  OBJECTIVE
  The main objective of this paper is to describe the management of profound sensorineural hearing loss in children with Mucopolysaccaridosis. The primary outcome measures for this case series were improvement in auditory performance and speech perception scores following cochlear implantation. Secondary outcome measures included surgical complications.
  
  
  METHODS
  We carried out a casenote review of the first two cases of cochlear implantation (CI) to rehabilitate profound sensory neural hearing loss in Mucopolysaccharidoses. Improvement in auditory performance was measured by categories of auditory performance (CAP) score, speech reception score (SRS) and the IHR McCormick toy discrimination test.
  
  
  RESULTS
  Both patients with MPS had demonstrable benefit from CI in terms of auditory performance and speech perception. The first patient improved from pre-operatively only managing to recognise environmental sounds to understanding conversation without lip-reading with a familiar talker. Following CI, the second patient can discriminate speech in noisy environments to a degree, without lip-reading. No peri-operative complications were noted in either patient.
  
  
  CONCLUSIONS
  As the medical management of the MPS has progressed there is likely to be a corresponding increase in survival. This increased life-expectancy will likely lead to greater numbers of patients with MPS surviving long enough to develop profound hearing loss. Likewise, when considering the risks and benefits of quality of life interventions such as CI in patients with MPS, it is more likely that the risks of surgery and general anaesthesia will be considered acceptable. Clinicians managing such patients will need to be aware of these developments.
authors.affiliation: Manchester Auditory Implant Centre, Manchester Royal Infirmary, University of Manchester, Oxford Road, Manchester M13 9WL, UK.
authors.forename: H
authors.initials: H
authors.lastname: Saeed
authors.forename: J
authors.initials: J
authors.lastname: Nichani
authors.forename: C
authors.initials: C
authors.lastname: Melling
authors.forename: C H
authors.initials: CH
authors.lastname: Raine
authors.forename: I
authors.initials: I
authors.lastname: Khan
authors.forename: J M
authors.initials: JM
authors.lastname: Martin
authors.forename: R
authors.initials: R
authors.lastname: Bullough
authors.forename: K M
authors.initials: KM
authors.lastname: Green
authors.forename: S A
authors.initials: SA
authors.lastname: Jones
authors.forename: I A
authors.initials: IA
authors.lastname: Bruce
mesh_terms: D000293:Adolescent; D001309:Auditory Threshold / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D003054:Cochlear Implants; D005240:Feasibility Studies; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000503:physiopathology / Q000601:surgery; D013067:Speech Perception / Q000502:physiology; D016896:Treatment Outcome
keywords: Cochlear implantation; Hearing loss; Mucopolysaccharidosis