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Audiological findings in children with mucopolysaccharidoses type i-iv

María F Vargas-Gamarra1, Carlos de Paula-Vernetta1, Isidro Vitoria Miñana2

  • 1Servicio de Otorrinolaringología, Hospital Universitario y Politécnico La Fe, Universidad de Valencia, Valencia, España.

Acta Otorrinolaringologica Espanola
|February 23, 2017
PubMed

Insights

Children with mucopolysaccharidosis (MPS) experience significant hearing loss, often progressing from conductive to sensorineural types, particularly in MPS types I and II. Regular audiological monitoring is crucial for managing this common complication.

Area of Science:

  • Pediatrics
  • Genetics
  • Audiology

Background:

  • Mucopolysaccharidoses (MPS) are rare genetic disorders.
  • Hearing impairment is a frequent comorbidity in MPS patients.
  • Understanding the audiological profile across different MPS types is essential.

Purpose of the Study:

  • To evaluate the prevalence and characteristics of hearing impairment in children with MPS types I, II, III, and IV.
  • To analyze the progression of hearing loss in relation to MPS subtypes.
  • To highlight the need for audiological surveillance in this population.

Main Methods:

  • Retrospective analysis of clinical and audiological data.
  • Review of 23 children diagnosed with MPS types I, II, III, or IV.
  • Data collected between 1997 and 2015 at a tertiary referral hospital.

Main Results:

  • 71.2% of patients presented with secretory otitis media (SOM).
  • 54% of patients exhibited some form of hearing loss (HL).
  • Hearing loss patterns varied among MPS types, with greater severity and variability noted in MPS I and II.

Conclusions:

  • Children with MPS have a high risk of developing hearing loss.
  • Transmissive hearing loss frequently progresses to mixed or sensorineural types, especially in MPS I and II.
  • Periodic audiological follow-up is critical for early intervention and to mitigate developmental impacts.
Abstract

Keywords:
Hearing lossHipoacusiaMucopolisacaridosisMucopolysaccharidosisOtitis

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