Van Campenhout S, Devriendt K, Breckpot J, Frijns J-P, Peeters H, Van Buggenhout G, Van Esch H, Maes B, Swillen A
Faculty of Psychology and Educational Sciences, Catholic University of Leuven, Leuven, Belgium.
Genet Couns. 2012;23(2):135-48.
Microduplication 22q11.2 is a recently discovered genomic disorder. So far, targeted research on the cognitive and behavioral characteristics of individuals with this microduplication is limited. Therefore, 11 Flemish children (3-13 years old) with a microduplication 22q 1.2 were investigated in order to describe their clinical, developmental and behavioral characteristics. We measured their general intelligence, visual-motor capacities, attention, behavioral problems and characteristics of autism. In addition, there was an interview with the parents on developmental history and we reviewed available information from other specialists. The results show that the cognitive and behavioral phenotype of the children with microduplication 22q.11.2 is very wide and heterogeneous. Some of the children have a cognitively nearly normal development whereas others are more severely affected. All children had some degree of developmental delay and some of them have an intellectual disability. The most common clinical features include congenital malformations such as heart defects and cleft lip, feeding problems, hearing impairment and facial dysmorphism. The most common non-medical problems are learning difficulties, motor impairment, attention deficits, social problems and behavioral problems. There is no correlation between the size of the duplication and the phenotype.
22q11.2微重复是一种最近发现的基因组疾病。到目前为止，针对患有这种微重复的个体的认知和行为特征的针对性研究有限。因此，对11名患有22q1.2微重复的佛兰芒儿童（3至13岁）进行了调查，以描述他们的临床、发育和行为特征。我们测量了他们的一般智力、视觉运动能力、注意力、行为问题和自闭症特征。此外，还与家长就发育史进行了访谈，并查阅了其他专家提供的现有信息。结果表明，患有22q.11.2微重复的儿童的认知和行为表型非常广泛且具有异质性。一些儿童的认知发育几乎正常，而另一些则受到更严重的影响。所有儿童都有一定程度的发育迟缓，其中一些有智力障碍。最常见的临床特征包括先天性畸形，如心脏缺陷和唇裂、喂养问题、听力障碍和面部畸形。最常见的非医学问题是学习困难、运动障碍、注意力缺陷、社交问题和行为问题。重复的大小与表型之间没有相关性。
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