Department of Communication Sciences and Disorders, University of Utah, Salt Lake City, UT 84112-0252, USA.
Am J Med Genet A. 2010 Feb;152A(2):284-90. doi: 10.1002/ajmg.a.33235.
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.
在患有神经纤维瘤病 1 型（NF1）的学龄儿童和青少年中，发现存在言语和发音发育迟缓的现象。本报告研究了 NF1 学龄前儿童的言语和语言技能。使用发音评估（GFTA-2）和接受性和表达性语言评估（CELF-P2）对 19 名 3 至 5 岁被诊断患有 NF1 的儿童进行评估。与语言发音仪器的验证对照组相比，NF1 组儿童的平均得分存在显著差异（P<0.009）。68%的儿童存在言语和/或语言发育迟缓。32%的儿童表现出发音迟缓，37%的儿童表现出接受性语言迟缓，37%的儿童表现出表达性语言迟缓。16%的儿童存在嗓音障碍，42%的儿童被判断存在共鸣问题。非家族性与家族性 NF1 儿童在言语和语言的任何评估指标上均无显著差异。这项研究的结果支持对诊断为 NF1 的儿童进行早期言语和语言问题评估，并根据需要及时实施适当干预的必要性。
