Thesis defense Renée Roelofs (Donders series 380)

7 May 2019

Promotors: prof. dr. J. Egger, prof. dr. R. Kessels,
Co-promotor: dr. P. Wingbermühle

A clinical neuropsychological perspective on Noonan syndrome: From assessment to treatment

Noonan syndrome (NS) is a genetic disorder, characterised by typical facial features, congenital heart disease, and small stature, with an estimated prevalence of 1:1000-2500 live births. Renée Roelofs studied the cognitive and psychological profile of these patients, using longitudinal and controlled studies, and developed an NS-specific treatment aimed at social-emotional problems. The studies suggested a delay in cognitive development, differences in recognising and verbalising (one’s own and other peoples’) emotions in comparison with patients with Turner syndrome, and higher levels of introversion and internalising problems compared to healthy controls. A literature review showed that neuropsychological interventions can improve social cognitive functioning. An NS-specific social cognitive training was then developed, which appeared to be feasible and helpful for this population. Psychological problems of patients with NS should be regarded in the context of the interaction between somatic, cognitive, psychological, and developmental factors, emphasizing the importance of a clinical neuropsychological perspective.