Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychoiogical and language phenotypes

被引:21
作者
Eliez, S
Palacio-Espasa, F
Spira, A
Lacroix, M
Pont, C
Luthi, F
Robert-Tissot, C
Feinstein, C
Schorderet, DF
Antonarakis, SE
Cramer, B
机构
[1] Stanford Univ, Sch Med, Div Child Psychiat, Stanford, CA 94305 USA
[2] Univ Geneva, Sch Med, Div Child Psychiat, CH-1206 Geneva, Switzerland
[3] CHU Vaudois, CH-1011 Lausanne, Switzerland
[4] Univ Lausanne, Sch Med, Div Med Genet, CH-1011 Lausanne, Switzerland
[5] Univ Geneva, Med Sch & Hosp, Div Med Genet, CH-1211 Geneva 4, Switzerland
关键词
Velo-Cardio-Facial syndrome; VCF; 22q11; deletion; neurobehavioral phenotype;
D O I
10.1007/s007870050005
中图分类号
B844 [发展心理学(人类心理学)];
学科分类号
040202 ;
摘要
This is the first clinical description of a detailed psychological, speech, and language phenotype of four young children (<5 years) with Velo-Cardio-Facial syndrome (VCFS) due to a deletion on chromosome 22 (22q11.2). The reported elevated risk of developing schizophrenia or bipolar disorder in adolescence for individuals with this chromosomal deletion led us to examine the psychiatric and cognitive status of young children with VCFS. Our observations suggest a phenotype comprised of a borderline to mildly retarded level of intellectual functioning, a language delay, a general deficit in social initiation, difficulties with attention/concentration, and a perturbed train of thought.
引用
收藏
页码:109 / 114
页数:6
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