Donders Institute for Brain, Cognition and Behaviour
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Thesis defense Ellen Wingbermühle (Donders Series 103)

February 14, 2013

Promotors: Prof.dr. J. Egger, Prof.dr. R. Kessels, Prof.dr. W. Verhoeven, copromotor: Dr. I. van der Burgt

Cognition and emotion in adults with Noonan syndrome: A neuropsychological perspective

Noonan syndrome (NS) is a genetic disorder, characterised by short stature, distinctive facial appearance and congenital heart defects. Prevalence rates are estimated between 1 in 1000 and 1 in 2500 live births. About half of the children with NS receive special education services. In this thesis, literature on the neuropsychological profile of patients with NS was reviewed, followed by case-control studies on cognitive function and emotion processing in adults with this syndrome.

Previous research suggests that patients with NS develop multiple cognitive deficits during childhood and adolescence. Specifically, mildly lowered general intelligence, delayed development of language and motor function, attention deficits, suboptimal planning and organisation skills, as well as impairments in social competence have been reported, but studies in adults are scarce. The studies of my research project in adults clearly showed that the cognitive performance of NS patients was at the same level as that of controls, except for a lowered speed of information processing in the patient group. Moreover, patients with NS reported higher levels of alexithymia (reflecting impairments in the experience and communication of emotions), and higher levels of distress accompanying social interaction.

While previous research and patient care has mainly focused on genetic characteristics and somatic complications with respect to NS, the studies reported in this thesis indicate that neuropsychological aspects should be taken into account as well. They may contribute to functional diagnostics and to the tailoring of educational programs or psychological interventions for patients with NS.