Department of Experimental Psychology, University of Oxford, Tinbergen Building, 2, South Parks Road, Oxford OX1 3UD, UK.
Arch Dis Child. 2011 Oct;96(10):954-9. doi: 10.1136/adc.2009.179747. Epub 2010 Jul 23.
Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3-3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue.
Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters).
Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation.
Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.
性染色体三体（SCT）在同性别出生的婴儿中每 1000 例中有 2.3-3.7 例通过羊膜穿刺术发现，但目前基于该数据预测预后的数据库有限。在产后诊断的克氏综合征（XXY 核型）病例中已经描述了自闭症，但在非参考样本和其他三体中，其患病率尚不清楚。作者招募了迄今为止报告的所有三种 SCT 中最大的样本，包括产前筛查中发现的儿童，以澄清这一问题。
通过产前筛查或父母支持小组招募 SCT 儿童的父母，共有 58 例 XXX、19 例 XXY 和 58 例 XYY 病例。使用 Vineland 适应行为量表对父母进行访谈，并完成有关 SCT 儿童及其兄弟姐妹（42 名兄弟和 26 名姐妹）沟通发展的问卷。
所有三种三体的语言和沟通问题发生率都很高。XXY 中有 2/19（11%）和 XYY 中有 11/58（19%）例诊断为自闭症谱系障碍（ASD）。排除 ASD 诊断后，具有轻度自闭症特征的沟通特征较为常见，尽管存在广泛的个体差异。
在 SCT 的非参考样本研究中，以前没有注意到自闭症特征，但在该样本中，即使将注意力仅限于早期发现的病例，其发生率也大大高于人群水平。作者假设 X 连锁和 Y 连锁神经连接素可能在沟通障碍和 ASD 的发病机制中发挥重要作用。
