Author:

Keywords:

cognitive phenotype, intellectual, disability, intelligence, 22qii deletion, velo-cardio-facial syndrome, 22q11.2 deletion syndrome, velocardiofacial-syndrome, behavioral-phenotype, chromosome 22q11, profile, microdeletion, adolescents, disorders, spectrum, vcfs, Social Sciences, Science & Technology, Life Sciences & Biomedicine, Education, Special, Genetics & Heredity, Clinical Neurology, Psychiatry, Rehabilitation, Education & Educational Research, Neurosciences & Neurology, 22qII deletion, Velo-Cardio-Facial Syndrome, 22Q11.2 DELETION, VELOCARDIOFACIAL SYNDROME, CHROMOSOME 22Q11, PHENOTYPE, PROFILE, ADOLESCENTS, DISORDERS, SPECTRUM, Adolescent, Child, Child, Preschool, DiGeorge Syndrome, Female, Gene Deletion, Gene Expression, Genotype, Humans, Intellectual Disability, Male, Phenotype, Point Mutation, Surveys and Questionnaires, Wechsler Scales, 11 Medical and Health Sciences, 13 Education, 17 Psychology and Cognitive Sciences, 3202 Clinical sciences, 5202 Biological psychology

Abstract:

Background Learning disabilities are one of most consistently reported features in Velo-Cardio-Facial Syndrome (VCFS). Earlier reports on IQ in children with VCFS were, however, limited by small sample sizes and ascertainment biases. The aim of the present study was therefore to replicate these earlier findings and to investigate intellectual abilities in a large sample of children with VCFS. In addition, we aimed to identify factors that may contribute to within-syndrome variability in cognitive performance, such as the mode of inheritance of the deletion, sex, the presence of a heart defect and psychiatric morbidity.