کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
371797 621941 2011 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Cognitive phenotype of velocardiofacial syndrome: A review
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب رفتاری
پیش نمایش صفحه اول مقاله
Cognitive phenotype of velocardiofacial syndrome: A review
چکیده انگلیسی

The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of major mental health difficulties. This paper reviews literature on the cognitive phenotype and its relationship with a polymorphism of the gene coding for catechol O-methyltransferase (COMT), a gene haploinsufficient in VCFS which modulates prefrontal dopamine levels. Principal features of the variable cognitive phenotype of VCFS in young people are ID, superiority of verbal over performance I.Q. and verbal over visuospatial memory, and difficulties with number and object magnitude comparisons, time perception and memory for serial order, and orienting of attention. Despite some improvements with age, problems with higher order attentional tasks involving planning persist, possibly modulated by COMT activity levels. Candidate cognitive endophenotypes include problems with retrieval of contextual information from memory and in executive control and focussing of attention. Longitudinal research using common core batteries of psychometric assessments, and experimental measures of cognitive function capable of direct translation for use with animal models, will further advance understanding of the developmental dynamics of VCFS.


► Velocardiofacial syndrome (VCFS) has a distinctive but dynamic and developing cognitive phenotype.
► VCFS offers a potentially valuable model for understanding relationships between brain development, cognitive development and psychiatric disorder.
► The cognitive phenotype of VCFS contributes to the development of behavioural and psychiatric disorders.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Research in Developmental Disabilities - Volume 32, Issue 6, November–December 2011, Pages 2206–2213
نویسندگان
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