Siegel-Sadewitz V, Shprintzen R J
J Speech Hear Disord. 1982 Nov;47(4):338-54. doi: 10.1044/jshd.4704.338.
Though birth defects and malformation syndromes often result in serious communication disorders, there has been relatively little input towards the study and delineation of congenital anomalies from speech and hearing sciences. By identifying a particular congenital malformation syndrome, the clinician is able to understand the possible symptoms which may be found in the syndrome, the progression and course of the syndrome, and its eventual prognosis. Understanding the full spectrum of possible symptoms may lead the clinician to search for anomalies which may not be readily apparent on first examination. Knowing a syndrome's progression and course, the clinician can devise realistic treatment plans in terms of both content and timing. Finally, the ability to provide a prognosis allows the clinician to counsel parents and professionals about the expected effects of treatments as well as the course of development. A partial catalogue of speech and hearing disorders associated with over 100 syndromes is included.
尽管出生缺陷和畸形综合征常常导致严重的交流障碍，但言语和听力科学领域对先天性异常的研究和描述投入相对较少。通过识别一种特定的先天性畸形综合征，临床医生能够了解该综合征可能出现的症状、综合征的进展过程及其最终预后。了解所有可能的症状范围，可能会促使临床医生去寻找初次检查时可能不明显的异常情况。了解一种综合征的进展过程，临床医生就能在治疗内容和时机方面制定切实可行的治疗计划。最后，能够提供预后信息使临床医生能够就治疗的预期效果以及发育过程向家长和专业人员提供咨询。本文包含了与100多种综合征相关的言语和听力障碍的部分目录。
