Speech and language disorders in children with neurofibromatosis type 1 (NF1)– study of 112 patients

Abstract

Introduction: NF1 is both clinically and genetically clearly defined as an autosomal dominant hereditary disease whose organic neurobiological processes have been examined for over a century. The relationship between NF1 and speech and language disorders has been relatively less well investigated. Aim: To show the frequency of speech and language disorders in children with NF1. Patients and methods: We selected a group of 112 children (54 girls and 58 boys) from our personal registry that covers 202 children with NF1. The selected children were longitudinally monitored by a speech pathologist. The age of children on initial examination varied between 1 year 9 months and 16 years 3 months. Semantic-syntactic structure and modalities of speech were analysed. Articulation was tested with the Vuleti} test of articulation, while prosody and resonance were evaluated subjectively and then objectified with an acoustic analysis of the speech spectrum. Results: 22% of patients had some degree of delayed early speech development. Speech disorders presented most often as disorders of resonance (81.2%) – hyperrhinophonia and rhinophonia mixta (79.5%) and hyporhinophonia (1.8%). Articulation disorders were diagnosed in 59.8% of patients and they were most often manifested as distortions (51.8%). Subjective evaluation of the voice found hoarseness in 50.9% of cases. Prosody was disrupted on the level of rhythm of speech with inter- and intraverbal blockades in 38.4% of children with NF1. Evaluation of reading and writing in 87 children with NF1 showed a high frequency of disorders – unspecific reading (19.5%) and writing (17.2%) errors. Conclusion: The significant frequency of speech and language disorders in children with NF1 could have an important role in the appearance of learning disorders that are found in 50-60% of patients.