Simko A, Hornstein L, Soukup S, Bagamery N
Cincinnati Center for Developmental Disorders, Children's Hospital Medical Center, University of Cincinnati College of Medicine 45229.
Pediatrics. 1989 Apr;83(4):547-52.
In recent years, a number of articles have appeared in the literature concerning the fragile X syndrome; however, in few cases was the diagnosis of the syndrome in young children discussed. A review of 20 children younger than 7 1/2 years of age who had the fragile X syndrome seen at the Cincinnati Center of Developmental Disorders was undertaken in an attempt to establish guidelines that would aid the practicing physician in determining which children should have a chromosomal analysis. All children were developmentally delayed; 95% had speech delays. Short attention span with hyperactivity, temper tantrums, mouthing of objects persisting at an age beyond when it would be expected, autistic behaviors, and poor gross motor coordination were seen in 50% or more of the children. Mental retardation was present in the family history of 65%, and 90% had a family history of at least one of the following: mental retardation, learning disabilities, or hyperactivity. The most common physical findings were long and/or wide and/or protruding ears, prominent jaw and/or long face, high arched palate, and a flattened nasal bridge. The fragile X syndrome can be recognized by noting key aspects of the behavioral and family histories as well as the physical findings.
近年来，文献中出现了许多关于脆性X综合征的文章；然而，很少有文章讨论幼儿期该综合征的诊断。我们对辛辛那提发育障碍中心收治的20例7岁半以下患有脆性X综合征的儿童进行了回顾性研究，试图制定指导方针，以帮助执业医师确定哪些儿童应进行染色体分析。所有儿童均有发育迟缓；95%有语言发育迟缓。50%或更多的儿童存在注意力短暂伴多动、发脾气、在超过预期年龄仍持续出现咬物行为、自闭症行为以及粗大运动协调性差等问题。65%的儿童家族史中有智力障碍，90%的儿童家族史中至少有以下情况之一：智力障碍、学习障碍或多动。最常见的体格检查发现是耳朵长和/或宽和/或突出、下颌突出和/或脸长、高腭弓以及鼻梁扁平。通过注意行为和家族史的关键方面以及体格检查结果，可以识别脆性X综合征。
