Samuel J.R.A. Chawner, PhD, Joanne L. Doherty, MRCPsych, Hayley Moss, BSc, Maria Niarchou, PhD, James T.R. Walters, PhD, MRCPsych, Michael J. Owen, PhD, FRCPsych, Marianne B.M. van den Bree, PhD, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Samuel J.R.A. Chawner, PhD, Joanne L. Doherty, MRCPsych, Hayley Moss, BSc, Maria Niarchou, PhD, James T.R. Walters, PhD, MRCPsych, Michael J. Owen, PhD, FRCPsych, Marianne B.M. van den Bree, PhD, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK
Br J Psychiatry. 2017 Oct;211(4):223-230. doi: 10.1192/bjp.bp.116.195651. Epub 2017 Sep 7.
22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample.To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings.A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS ( = 75, mean age time 1 () 9.9, time 2 () 12.5) and control siblings ( = 33, mean age 10.6, 13.4).Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality.Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function for identifying individual children with 22q11.2DS at high risk of developing schizophrenia.
22q11.2 缺失综合征(22q11.2DS)与儿童期和成年期精神疾病风险增加相关,尤其是精神分裂症。此前已有报道称 22q11.2DS 患儿存在认知能力下降,但这些研究均缺乏对照样本。为了比较 22q11.2DS 患儿与无患病同胞的认知轨迹。对 22q11.2DS 患儿(n=75,平均年龄 1()9.9 岁,2()12.5 岁)和无患病同胞(n=33,平均年龄 10.6 岁,13.4 岁)进行了神经认知功能(智商、执行功能、加工速度和注意力)的纵向研究。22q11.2DS 患儿在所有认知领域均存在缺陷。然而,平均分数并未表明存在认知能力下降。当检查个体轨迹时,一些参与者表现出随时间的显著下降,但在 22q11.2DS 和无患病同胞中,这种情况的发生率相似。研究结果更可能反映出正常的发育波动,而不是 22q11.2DS 特有的异常。22q11.2DS 与儿童期认知能力下降无关。与之前的建议相反,我们认为,目前推荐对认知功能进行重复监测以识别 22q11.2DS 患儿中存在发展为精神分裂症高风险的个体还为时过早。