University of Milano-Bicocca, Milan, Italy.
University of York, Heslington, York, UK.
J Appl Res Intellect Disabil. 2018 Jan;31(1):e177-e181. doi: 10.1111/jar.12344. Epub 2017 Mar 1.
22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans. The presence of learning difficulty is reported in the majority of individuals with 22q11DS, but there is considerable heterogeneity in cognitive and educational profiles and in the age-related changes.
Verbal, non-verbal and spatial abilities, and educational attainment of 18 children and adolescents with 22q11DS were assessed at two time points 5 years apart.
There was a decline in full-scale IQ, with a sharper decline in verbal than non-verbal skills, whereas spatial abilities remained stable over time. Individual profile analysis revealed discrepancies between full-scale IQ and reading skills, suggestive of "hyperlexia," for more than two-thirds of participants.
The relative strength in verbal ability observed in 22q11DS is more apparent when children are younger, and a more even cognitive profile is observed in older children and adolescents. Educational attainments keep pace with development, and literacy skills are globally higher than might be expected from full-scale IQ.
22q11.2 缺失综合征（22q11DS）是人类最常见的微缺失综合征之一。大多数 22q11DS 患者存在学习困难，但在认知和教育特征以及与年龄相关的变化方面存在相当大的异质性。
在相隔 5 年的两个时间点评估了 18 名 22q11DS 儿童和青少年的言语、非言语和空间能力以及受教育程度。
全量表智商下降，言语技能下降幅度大于非言语技能，而空间能力随时间保持稳定。个体特征分析显示，超过三分之二的参与者全量表智商与阅读技能存在差异，提示存在“超阅读”。
在儿童时期，22q11DS 中观察到的言语能力优势更为明显，而在年龄较大的儿童和青少年中则表现出更为均衡的认知特征。教育程度与发展同步，读写能力总体上高于全量表智商所预期的水平。
