Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII

Int J Pediatr Otorhinolaryngol. 1990 Jun;19(2):97-107. doi: 10.1016/0165-5876(90)90215-d.


Mucopolysaccharidosis VII (MPS-VII) is probably the rarest of the mucopolysaccharidoses; literature reveals only 20 cases. We have had the opportunity to study and treat such a child in our clinic, and this paper documents his speech, language, and hearing. Results demonstrated a delay with respect to his chronological age in all cognitive, linguistic, and social domains. He had a mixed hearing loss which could have contributed to his diminishing speech and language abilities; he had chronic otitis media. After 59 h of speech and language intervention (over a period of 19 months), primarily for language treatment, standardized tests revealed that his scores had decreased over time. During this period, both his speech production and his hearing got poorer. At about the time of his 8th birthday, he underwent a permanent tracheostomy, altering further therapy. Although MPS-VII is a very rare disorder, what has been learned here may apply to other MPSs and even to other multiply handicapped patients. We hope that the presentation of our findings may assist others when confronted with complex, degenerative disorders.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child Development
  • Child, Preschool
  • Cognition
  • Hearing
  • Hearing Disorders / etiology*
  • Humans
  • Infant
  • Infant, Newborn
  • Language
  • Language Disorders / etiology*
  • Male
  • Mucopolysaccharidoses / complications*
  • Mucopolysaccharidoses / physiopathology
  • Otitis Media / etiology
  • Speech
  • Speech Disorders / etiology*