Twins with KBG syndrome and autism.
Twins with KBG syndrome and autism.
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患有 KBG 综合征和自闭症的双胞胎。
DOI：
10.1007/s10803-009-0811-7
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发表时间：
2009
影响因子：
3.9
通讯作者：
Hallmayer,JoachimF
中科院分区：
文献类型：
--
作者：
Hah,Mina;Lotspeich,LindaJ;Phillips,JenniferM;Torres,AndreaD;Cleveland,SueC;Hallmayer,JoachimF
1975年，Herrmann等人首次描述了KBG综合征。字母“KBG”来自三个不相关家庭的姓氏，其中有7名患者被确定患有该综合征。在最初的报告中，KBG被认为是一种常染色体显性遗传病，其特征是身材矮小、骨骼异常、智力迟钝、牙齿异常和明显的颅面异常。此后又报告了51例患者。在最近的一篇文章中，诊断为KBG综合征的同卵双胞胎被描述为具有自闭症特征（Skjei et al. 2007）。在这里，我们报告了对同一对双胞胎的其他发现。通过适当的诊断测试，他们确实符合自闭症的标准。我们还回顾了以前发表的关于KBG的自闭症症状报告的文献。为了消除偏见，每个男孩在12岁零7个月时由两名独立的评估员在家中进行评估。评估过程被录了下来，一名儿童心理学家用录像带对测试进行了记录。此外，一名儿童和青少年精神病学家获得了一份详尽的病史。
In 1975, Herrmann et al. first described KBG syndrome. The letters ‘‘KBG’’were derived from the surnames of three unrelated families from which seven patients with the syndrome were identified. In the original report KBG was assumed to be an autosomal dominant condition characterized by short stature, skeletal abnormalities, mental retardation, dental abnormalities and distinct craniofacial anomalies. Since then an additional 51 patients have been reported. Monozygotic twins diagnosed with KBG syndrome were described as having autistic features in a recent article (Skjei et al. 2007). Here we report additional findings on the same twins. Through appropriate diagnostic testing, it was established that they did meet criteria for autism. We also reviewed the literature of previously published cases of KBG for reports of autism symptoms. Each boy was assessed at home at 12 years, 7 months of age by two separate assessors in order to eliminate bias. The assessments were videotaped and a child psychologist recoded the tests using the videotapes. In addition a thorough history was obtained by a child and adolescent psychiatrist.