Abstract: The current paper introduces concise neuropsychological assessment as an essential tool for studying the contribution of cognition and behavior in the expression of genetic syndromes, like Noonan syndrome (NS). Cognitive and behavioral findings in NS show intelligence scores across a wide range, with a mildly lowered average level. Language and motor development are often delayed, but no longer dysfunctional in adulthood. Continuing mild problems in selective and sustained attention are noted, as well as suboptimal organization skills and compromised abilities to structure complex information. These problems seem to culminate in learning difficulties, requiring attention for special needs in education. It seems that a complex of psychosocial immaturity, alexithymia and amenable traits is typical of NS patients. Consequently, psychopathology or psychological problems in leading a self-serving life may often remain underreported. This is why the authors advocate the integration of the domain of social cognition and personality in NS assessment.

*Behavior, Adolescent, Adult, Attention, Child, Child, Preschool, Cognition, Humans, Infant, Infant, Newborn, Intelligence, Language, Learning Disorders, Memory, Mental Disorders, Mutation, Neuropsychological Tests, Noonan Syndrome/genetics/*psychology, Quality of Life
dx.doi.org/10.1159/000243774, hdl.handle.net/1765/23124
Hormone Research
Erasmus MC: University Medical Center Rotterdam

Wingbermühle, P.A.M, Egger, J.I.M, van der Burgt, I, & Verhoeven, W.M.A. (2009). Neuropsychological and Behavioral Aspects of Noonan Syndrome. In Hormone Research (Vol. 72, pp. 15–23). doi:10.1159/000243774