Deviant Speech-Language Profile and Auditory Dys-Synchrony Associated with Neurofibromatosis Type 1: A Single Case Study

Abstract

The present single case study aims to investigate the myriad of potential speech, language and audiological characteristics along with exploring and getting an insight into the diagnostic procedure of a child with Neurofibromatosis Type 1 (NF-1). Evaluation was conducted by a speech language pathologist, audiologist and psychologist to study different areas of ability (intellect, hearing capability, speech-language skills and motor function) and performance (academic achievement and behavior). Psychological evaluation depicted that the child’s verbal IQ is more affected than performance IQ, has problems in attention, social interaction, coordination, manual dexterity and balance. Speech and Language evaluation depicted deviancy in syntactic and semantic skills, errors of substitution and distortions among all the consonants and blends, (due to poor oral motor co-ordination), severely affected speech intelligibility and hoarse vocal quality. Audiological evaluation revealed hearing sensitivity within normal limits bilaterally. DPOAEs (SNR > 6 dB) were present and robust in both ears. Although right ear had normal ABRs, but left ear ABR finding was abnormal (waves I, III and V were unidentifiable), along with presence of large and prolonged cochlear microphone, thereby indicating the presence of auditory neuropathy/dys-synchrony (AN/AD) in the left ear. Thus, deficits in speech, language, hearing, cognition and motor skills occurs in children with NF1.