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首页> 外文期刊>American journal of medical genetics, Part A >Speech-language characteristics of children with neurofibromatosis type 1.
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Speech-language characteristics of children with neurofibromatosis type 1.

机译：1型神经纤维瘤病儿童的语言特征

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摘要

Delays in speech and articulation development have been found in school-aged children and adolescents with neurofibromatosis type 1 (NF1). This report examines speech and language skills of preschool children with NF1. Nineteen 3- to 5-year-old children diagnosed with NF1 were assessed using measures of articulation (GFTA-2), and receptive and expressive language (CELF-P2). Significant differences were observed between mean scores obtained by the group of children with NF1 compared to the validated controls from the speech and language instruments (P < or = 0.009). Sixty-eight percent of the children exhibited delays in speech and/or language. Thirty-two percent demonstrated delays in articulation, 37% percent demonstrated delays in receptive language, and 37% exhibited delays in expressive language. Sixteen percent of the children exhibited a voice disorder and 42% were judged to have a resonance problem. No significant differences were observed on any of the measures of speech and language for children with non-familial versus familial NF1. Results of this study support the need for early assessment of speech and language problems for children diagnosed with NF1 and implementation of appropriate timely intervention as needed.
机译：在患有1型神经纤维瘤病（NF1）的学龄儿童和青少年中，发现语音和发音发展受到延迟。本报告研究了患有NF1的学龄前儿童的言语和语言能力。评估了19例3至5岁被诊断为NF1的儿童，使用的是发音量表（GFTA-2），接受和表达语言（CELF-P2）。与语音和语言工具的经过验证的对照相比，在NF1儿童组获得的平均评分之间观察到了显着差异（P <或= 0.009）。 68％的儿童出现语言和/或语言延迟。 32％的人表现出发音延迟，37％的人表现出接受语言的延迟，37％的人表现出表达语言的延迟。 16％的儿童表现出语音障碍，而42％的儿童被认为患有共鸣问题。对于非家族性和家族性NF1患儿，在任何言语和语言测量上均未观察到显着差异。这项研究的结果支持需要早期评估诊断为NF1的儿童的言语和语言问题，并根据需要实施适当的及时干预。

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