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Genet Couns. 1999;10(1):79-88.

The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.

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Department of Clinical Genetics, University Hospital Gasthuisberg, Leuven, Belgium.


In this contribution the current status and recent findings of the behavioural phenotype in VCFS (22q11 deletion) are discussed with regard to motor development, cognition and neurodevelopment, and behaviour and temperament. Motor: hypotonia in infancy, gross-motor milestones are delayed, problems with coordination and balance from preschool age on, problems with tempo/speed during adolescence. Cognition and neurodevelopment: learning disabilities (82-100%), intellectual disability (45%), better verbal abilities than performal abilities, poor attention and concentration, visuo-perceptual-spatia problems, good (auditory) memory. An important subgroup of children (55%) has a non-verbal learning disability (NLD). Behaviour and social-emotional development AD(H)D, withdrawn and shy, person-dependent social problems in relationships with peers, anxious, risk for child psychiatric problems as well as for the development of psychiatric problems during adolescence and early adulthood. Information on the behavioural phenotype in VCFS (22q11 deletion) is of great importance to clinicians as an aid to syndrome diagnosis, but even more to parents because it offers immense direct practical value to the management of the behaviour of their child. Appropriate counseling and information on the long-term expectations, and better insight in the behaviour will lead to the development of realistic ways of coping with their child.

[Indexed for MEDLINE]

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