Kognitive- und Verhaltensphänotypen genetischer Syndrome:Neuropsychologische Untersuchungen zum Apert-, Crouzon- und Fragilen-X-Syndrom sowie zum Mikrodeletionssyndrom 22q11

Abstract

This work presents neuropsychological findings in Apert`s and Crouzon syndrome, in Fragile X syndrome and in Microdeletion 22q11. In the theory part it gives an overview of the relation between genes, brain and behaviour and discusses the construct of cognitive and behavioural phenotypes. Genetic, medical and psychological aspects of the syndromes are reported. The empirical part bases on a project that was supported by the University of Bremen and its Outpatient Center für Children. Children with mentioned genetic syndromes were tested with a half-standarized neuropsychological testbattery including aspects of intelligence and development, mnestic functions, visual spatial functions, attention, behaviour and social abilities. The findings show a great diversity of Intelligence scores in Apert`s- and Crouzon syndrome and in Microdeletion 22q11 reaching from moderate mental retardation to normal intelligence while all children with Fragile X syndrom showed global mental retardation. Although different in intelligence in all children with Apert`s- and Crouzon syndrome and Microdeletion 22q11 a nonverbal learning disorder was found.