Williams syndrome: Pediatric, neurologic, and cognitive development
Williams syndrome: Pediatric, neurologic, and cognitive development
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DOI：
10.1016/j.pediatrneurol.2004.09.013
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发表时间：
2005-03-01
影响因子：
3.8
通讯作者：
Aboitiz, F
中科院分区：
文献类型：
--
作者：
Carrasco, X;Castillo, S;Aboitiz, F
本研究检查了32例威廉姆斯综合征患者的发育史，荧光原位杂交（FISH）试验呈阳性。这些信息旨在为这些患者的早期诊断和适当刺激提供帮助。在这里报告的样本中，只有大约一半的患者提到的推定诊断是事实上（FISH），表明面部畸形可能不是最可靠的诊断标志。最初的儿科症状是发育迟缓和夜间易怒。在咨询中，检测到面部畸形和心脏杂音。还有低出生体重，未能茁壮成长，不成功的母乳喂养和胃食管反流。所有这些症状都强烈提示有威廉姆斯综合征。后续步骤包括心脏病学研究。我们的研究结果表明，直到最近被认为是威廉姆斯综合征诊断的基础的由婴儿高钙血症、畸形面容和瓣上主动脉瓣狭窄组成的三联征通常不存在，也不会导致早期诊断。在认知方面，这些儿童的特点是过度社交、听觉过敏、视觉建构能力不足、注意力缺陷和过度活跃，在某些情况下，自发的音乐兴趣。没有特殊的语言技能。这项研究的结果表明，威廉姆斯综合征患者作为语言和音乐天才的概念是不完全准确的。(c)2005年，Elsevier Inc. All rights reserved.
This study examines the developmental history of 32 Williams syndrome patients, positive to the fluorescence in situ hybridization (FISH) test. The information is intended to provide help for early diagnosis and appropriate stimulation of these patients. In the sample reported here, only about half of the patients referred with presumptive diagnosis were in fact (FISH), indicating that facial dysmorphism may not be the most reliable sign for diagnosis. Initial pediatric signs are developmental delay and nocturnal irritability. In consultation, facial dysmorphies and heart murmur are detected. There is also low birth weight, failure to thrive, unsuccessful breastfeeding, and gastroesophageal reflux. All these symptoms are strongly suggestive of Williams syndrome. Subsequent steps consist of cardiologic studies. Our results indicate that the triad of symptoms consisting of infantile hypercalcemia, dysmorphic facies, and supravalvular aortic stenosis, which until recently was considered fundamental for Williams syndrome diagnosis, is not usually present and does not lead to an early diagnosis. Cognitively, these children are characterized by hypersociability, hyperacusia, deficient visuoconstructive abilities, attentional deficit and hyperactivity, and in some cases, spontaneous musical interests. There are no special verbal skills. The results of this study indicate that the concept of Williams syndrome patients as language-and musically-gifted is not fully accurate. (c) 2005 by Elsevier Inc. All rights reserved.