Angelillo Nicola, Di Costanzo Brigida, Barillari Umberto
Division of Phoniatry and Audiology, Second University of Naples, Via Cotugno 3, Naples, Italy.
J Commun Disord. 2010 May-Jun;43(3):252-60. doi: 10.1016/j.jcomdis.2010.01.001. Epub 2010 Jan 20.
Floating-Harbor syndrome is a rare congenital disorder characterized by specific facial features, short stature associated with significantly delayed bone age and language impairment. Although language delay is a cardinal manifestation of this syndrome, few reports describe the specific language difficulties of these patients, particularly the development of language abilities in the long run. This paper reports on an Italian boy with Floating-Harbor syndrome and discusses his language evaluation at presentation (age 48 months) and development and progress of his language abilities after 4 years of rehabilitation treatment. At presentation he exhibited borderline mental retardation, with verbal abilities lower than performance abilities. He showed significant impairment of both expressive and receptive language, and also exhibited phonologic and articulations problems that lowered speech intelligibility. Neuropsychological assessment revealed cognitive problems. After speech-language rehabilitation treatment, he achieved significant improvement in language function.
The reader will learn about (1) the distinctive clinical characteristics and (2) the speech-language abilities and their development after speech-language therapy in Floating-Harbor syndrome.
漂浮港综合征是一种罕见的先天性疾病,其特征为特定的面部特征、与骨龄显著延迟相关的身材矮小以及语言障碍。尽管语言发育迟缓是该综合征的主要表现,但很少有报告描述这些患者具体的语言困难,尤其是从长远来看语言能力的发展情况。本文报告了一名患有漂浮港综合征的意大利男孩,并讨论了他在初诊时(48个月龄)的语言评估情况以及经过4年康复治疗后其语言能力的发展和进步。初诊时,他表现为边缘智力发育迟缓,语言能力低于操作能力。他在表达性和接受性语言方面均有明显损伤,还存在语音和发音问题,这降低了言语清晰度。神经心理学评估显示存在认知问题。经过言语语言康复治疗后,他的语言功能有了显著改善。
读者将了解到(1)漂浮港综合征独特的临床特征,以及(2)该综合征患者在言语语言治疗后的言语语言能力及其发展情况。