Department of Oral and Maxillofacial Surgery, University of Turku, Turku, Finland.
Am J Med Genet A. 2010 Jan;152A(1):42-51. doi: 10.1002/ajmg.a.33178.
Neurofibromatosis 1 (NF1) is a neurocutaneous-skeletal disorder often accompanied with varying degrees of cognitive and motor problems that potentially affect speech and language. While previous studies have shown that NF1 may be associated with a variety of deviations in the patients' speech, they have not investigated the characteristics in phonetic detail. Our clinical observation that many patients share a distinct voice and manner of speaking led to the primary aim of this study, which was to present a comprehensive description of speech in NF1. A total of 62 patients with NF1 (age range 7-66 years), and a control group of 24 speakers (age range 7-62 years) were evaluated for their speech. The test sessions were recorded and the data were analyzed both by ear and by acoustic measurements. The data were analyzed separately by two trained phoneticians, and a summary was produced after comparing the two independent analyses. Various speech problems were observed among patients with NF1. Individual variation was remarkable, but the deviations were more common and severe in children than in adult patients. In addition, men with NF1 had more speech deviations than women with NF1. Findings include deviations in voice quality, problems in regulating pitch, deviant nasality, misarticulation, and disfluency. We suggest that difficulties in speech, particularly in regulating pitch, may have negative social implications. Our results highlight which components of speech require particular attention in speech therapy for patients with NF1.
神经纤维瘤病 1 型（NF1）是一种神经皮肤骨骼疾病，常伴有不同程度的认知和运动问题，这些问题可能会影响言语和语言。虽然之前的研究表明 NF1 可能与患者言语的多种偏差有关，但并未对语音特征进行详细调查。我们的临床观察发现，许多患者具有独特的声音和说话方式，这促使我们开展了这项研究，旨在全面描述 NF1 患者的言语。共对 62 名 NF1 患者（年龄 7-66 岁）和 24 名对照组患者（年龄 7-62 岁）进行了言语评估。测试过程进行了录音，通过听觉和声学测量对数据进行了分析。两名训练有素的语音病理学家分别对数据进行了分析，在比较了两次独立分析之后得出了总结。我们观察到 NF1 患者存在各种言语问题。个体差异显著，但儿童患者的偏差比成年患者更常见且更严重。此外，NF1 男性患者的言语偏差比 NF1 女性患者更严重。这些发现包括音质偏差、音高调节问题、鼻音异常、构音障碍和不流畅。我们认为，言语困难，特别是音高调节困难，可能会对社交产生负面影响。我们的研究结果突出了 NF1 患者言语治疗中需要特别注意的言语组成部分。
