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Speech fluency in neurofibromatosis type 1.

Marjan Cosyns1, Geert Mortier, Sandra Janssens

  • 1Department of Otorhinolaryngology & Logopaedic and Audiologic Sciences, Ghent University, Ghent University Hospital 2P1, De Pintelaan 185, 9000 Ghent, Belgium. Marjan.Cosyns@ugent.be <Marjan.Cosyns@ugent.be>

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PubMed
Summary

Neurofibromatosis type 1 (NF1) causes speech dysfluencies in adults. While some exhibit stuttering, NF1 speech patterns are distinct from typical stuttering, highlighting unique fluency challenges.

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Area of Science:

  • Neurogenetics
  • Speech-Language Pathology
  • Clinical Neurology

Background:

  • Neurofibromatosis type 1 (NF1) is a prevalent autosomal dominant neurocutaneous disorder (1/3000).
  • Previous research suggests a link between NF1 and diverse speech abnormalities.
  • The specific nature of speech fluency in NF1 patients requires further investigation.

Purpose of the Study:

  • To investigate speech fluency and dysfluency patterns in Dutch-speaking adults with NF1.
  • To analyze the type, frequency, and distribution of dysfluencies across various speech tasks.

Main Methods:

  • Collected speech samples from 21 Dutch-speaking adults diagnosed with NF1.
  • Utilized five distinct speaking modalities: spontaneous speech, monologue, repetition, automatic series, and reading.
  • Analyzed speech samples for the presence and characteristics of dysfluencies.

Main Results:

  • Dysfluencies are a common characteristic in the speech of individuals with NF1.
  • While stuttering was observed in some NF1 patients, the overall dysfluency pattern differs from classic stuttering.
  • The study identified specific patterns in the type, number, and distribution of dysfluencies.

Conclusions:

  • Speech dysfluencies are a significant feature of NF1 in adults.
  • The dysfluency profile in NF1 is not identical to stuttering, suggesting unique underlying mechanisms.
  • Further research is warranted to understand the specific speech challenges associated with NF1.