Department of Otorhinolaryngology, Ghent University, Ghent, Belgium.
Int J Lang Commun Disord. 2010 Sep-Oct;45(5):600-7. doi: 10.3109/13682820903312311.
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.
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.
The results indicate that speech difficulties are an area of interest in the NF1 population. Further research to elucidate these findings is needed.
神经纤维瘤病 1 型（NF1）是一种常染色体显性遗传的神经皮肤疾病，估计每 10000 人中就有 2 到 3 例。虽然其身体特征已经得到了很好的描述，但 NF1 患者的言语障碍尚未得到充分描述。
本研究旨在确定 NF1 患者言语问题的关键。特别是，旨在进一步探讨患者自身感知到的与言语相关的问题的发生和性质。
向根特大学医院遗传学部登记的 149 名 NF1 患者发送了一份问卷。问卷询问了发音、听力、呼吸、声音、共鸣和流畅度。60 名年龄在 4.5 至 61.3 岁之间的个体返回了完整的问卷，这些个体构成了研究的数据库。对该样本调查的结果与正常人群的数据进行了比较。
大约三分之二的参与者经历了至少一种言语或言语相关的问题。与正常人群相比，NF1 组表示存在更多的发音困难、听力障碍、音量异常和口吃。
结果表明，言语困难是 NF1 人群关注的一个领域。需要进一步研究来阐明这些发现。
