Review: The behavioral phenotype in Williams-Beuren syndrome: Status of current research

Author(s): Pankau, R.

Journal/Book: Z Klin Psychol Psychiatr Psyc. 1998; 46: Postfach 2540, W-4790 Paderborn, Germany. Verlag Ferdinand Schoningh. 289-303.

Abstract: In this article a model of a behavioural phenotype of Williams-Beuren syndrome (WBS) is presented. With help of this model the results of studies according to the genetic, somatic and psychosocial domains are reviewed. Microdeletions of the elastin, LIM kinasis, Syntaxin and RFC2 genes are reported, which could explain the somatic (e.g. Cardiovascular abnormalities, facial dysmorphology) and the neuropsychological phenotype as well. The latter is defined by a dissociation between verbal and visuo-spatial abilities. Studies show relatively good performance according to different verbal abilities and pronounced weaknesses in the gross, fine and visuospatial domains. Further, social-emotional characteristics of individuals with WBS as friendly and open manner towards other people on one side and behaviour problems as hyperactivity and social problems (e.g. Lacking friendships to peers) on the other side are reported. Articles to the different domains are reviewed and the consequences for the praxis and scientific approaches are discussed.

Note: Review Gosch A, Christian Albrechts Univ Kiel, Klin Allgemeine Padiatrie, Schwanenweg 20, D-24105 Kiel, GERMANY

Keyword(s): IDIOPATHIC INFANTILE HYPERCALCEMIA; ELFIN FACIES SYNDROME; COGNITIVE-DEVELOPMENT; NONRETARDED PERSONS; NATURAL-HISTORY; PIAGETIAN TESTS; CHILDREN; ABILITIES; ADULTS; HYPOTHESIS

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