Donders Institute for Brain, Cognition and Behaviour
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Thesis defense Linde Dongen (Donders series 465)

17 December 2020

Promotor: prof. dr. J. Egger
Co-promotors: dr. P. Wingbermühle, dr. T. Kleefstra

Cognitive and psychopathological phenotyping of rare Mendelian disorders:Towards a neuropsychological algorithm

This thesis comprises presents an overview of cognitive and behavioural functioning in children and adults diagnosed with one of three rare congenital neurodevelopmental disorders: Witteveen-Kolk syndrome (WITKOS), Kabuki syndrome (KS), and KBG syndrome (KBGS). The syndrome-specific cognitive profiles of participants with KS in the studies in this thesis were mainly characterised by weak visuoconstruction skills, with a relatively strong auditory memory. Furthermore, profiles of participants with WITKOS and KBGS were mainly characterised by problems in attention and executive functions. Research into behaviour, evaluated by carers in daily life, showed difficulties in social interaction and internalising problems in patients with WITKOS, and externalising problems (impulsiveness, restlessness, distractibility, and limited emotion regulation) in patients with KBGS. For both KBGS and WITKOS, it is likely that cognitive deficits contribute to the emergence and persistence of these behavioural problems.

This thesis provides a visual presentation of an algorithm that can be applied both as a personalised strategy for assessment of an individual with a rare genetic syndrome, and as a systematic research method for cognitive, emotional, and behavioural specification of the associated neurodevelopmental disorder on the cohort level.