Speech fluency in neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder with an estimated prevalence of about 1/3000. Several authors mention the occurrence of various types of speech abnormalities associated with NF1. The present study investigated speech fluency in 21 Dutch speaking adults with NF1. Speech samples were collected in five different speaking modalities (spontaneous speech, monologue, repetition, automatic series and reading) and subsequently analysed for type, number and distribution of dysfluencies. It was found that dysfluencies are a common feature of the speech of individuals with NF1. Although stuttering appears to occur in some NF1 patients, as a group, they display a dysfluency pattern that is not identical to stuttering. Educationalobjectives: The reader will be able to (1) summarize the clinical characteristics, prevalence and genetics of neurofibromatosis type 1 (NF1) and (2) describe the dysfluent behaviour displayed by individuals with NF1 regarding frequency, type and distribution of the dysfluencies.