Speech disorders in neurofibromatosis type 1: a sample survey
Marjan Cosyns1, Lies Vandeweghe, Geert Mortier
1Department of Otorhinolaryngology, Ghent University, Ghent, Belgium. marjan.cosyns@ugent.be
International Journal of Language & Communication Disorders
|November 11, 2009
Summary
Speech disorders are common in Neurofibromatosis type 1 (NF1), with many patients reporting articulation issues, hearing impairment, and stuttering. This pilot study highlights the need for further investigation into NF1-related speech challenges.
Area of Science:
- Genetics and Neurology
- Speech-Language Pathology
Background:
- Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder affecting approximately 2-3 per 10,000 individuals.
- While NF1's physical manifestations are known, speech disorders remain under-characterized.
Purpose of the Study:
- To pilot the identification of key speech issues in patients with NF1.
- To explore the occurrence and nature of speech problems as perceived by NF1 patients.
Main Methods:
- A questionnaire on speech (articulation, hearing, voice, fluency) was distributed to 149 NF1 patients.
- Sixty completed questionnaires from individuals aged 4.5 to 61.3 years formed the study database.
- Results were compared to data from the general population.
Main Results:
- Approximately two-thirds of NF1 participants reported at least one speech or related problem.
- Compared to the general population, NF1 patients showed higher rates of articulation difficulties, hearing impairment, loudness abnormalities, and stuttering.
Conclusions:
- Speech difficulties represent a significant area of concern within the NF1 population.
- Further research is warranted to fully understand and address these speech-related findings in NF1.
