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tampereen yliopisto: viestintätieteiden tiedekunta: opiskelu: valinnaiset opinnot: sivuaineet ja muut opintokokonaisuudet: fonetiikka: tutkimus: 25. fonetiikan päivät 2008: abstraktit:
Viestintätieteiden tiedekuntaTampereen yliopistoViestintätieteiden tiedekunta
25. Fonetiikan päivät 2008

Speech impairments induced by neurofibromatosis type 1—a preliminary study

Lotta Alivuotila, Jussi Hakokari, Juha Peltonen, Risto-Pekka Happonen, Olli Aaltonen

Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders that affect the nervous system. It is characterized by abnormal cell growth and tissue differentiation that affects multiple organ systems. NF1 is transmitted in an autosomal dominant fashion. It affects approximately one in every 3500 individuals across populations, and in Finland there are about 1500 NF1 patients.
 Symptoms of NF1 are variable and the condition’s severity cannot be predicted. Characteristic features of the disorder are café au lait macules (brown skin patches), Lisch nodules (hamartomas of the iris), and neurofibromas (discrete tumours arising from the peripheral nerve sheath). Furthermore, the condition is associated with a broad range of cognitive impairments, including low IQ, learning disabilities, and behavioral difficulties. Also motor problems may occur.
 While individual reports mention a variety of peculiarities in the patients’ speech, there has been no systematic effort to describe typical NF1 speech. Common impressions include delayed language development and slow acquisition of vocabulary. Foreign language learning is reported as difficult. Also syntactic, semantic and phonological difficulties may occur. NF1 patients may also have speech and voice problems like hypernasality, hoarseness, abnormal speaking rate, volume, pitch, and articulation.
 The aim of this preliminary study was to identify and describe characteristics typical of NF1 speech. Our approach is phonetic and we concentrate on the acoustic properties of the patients’ speech. We have noticed that many NF1 patients, while displaying a variety of speech issues, share a distinct voice and manner of speaking; one of our goals is to identify what makes these speakers sound so much alike. So far 63 patients have been examined. For the paper at hand, we picked all the adult male speakers (19) from our current data, since the phenomena are the most obvious in their speech.
 A speech pathological test battery was used to elicit speech samples for analysis. The findings, which include abnormal phonation, deviant articulation, hypernasality, and difficulties in producing normal pitch contours, will be described in phonetic detail.

 
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