Abstract
Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous disorder with an estimated prevalence of two to three cases per 10 000 population. While the physical characteristics have been well documented, speech disorders have not been fully characterized in NF1 patients.
Aims: This study serves as a pilot to identify key issues in the speech of NF1 patients. In particular, the aim is to explore further the occurrence and nature of problems associated with speech as perceived by the patients themselves.
Methods & Procedures: A questionnaire was sent to 149 patients with NF1 registered at the Department of Genetics, Ghent University Hospital. The questionnaire inquired about articulation, hearing, breathing, voice, resonance and fluency. Sixty individuals ranging in age from 4.5 to 61.3 years returned completed questionnaires and these served as the database for the study. The results of this sample survey were compared with data of the normal population.
Outcomes & Results: About two-thirds of participants experienced at least one speech or speech-related problem of any type. Compared with the normal population, the NF1 group indicated more articulation difficulties, hearing impairment, abnormalities in loudness, and stuttering.
Conclusion: The results indicate that speech difficulties are an area of interest in the NF1 population. Further research to elucidate these findings is needed.
Acknowledgements
Marjan Cosyns was funded through an aspirant scholarship by the Research Foundation (FWO), Flanders, Belgium (Grant number: 1.1.023.10.N.01). Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.