Sotos Syndrome

Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts. Beyond their primary physical problems, people with SS and BWS could present cognitive delay, socio-emotional and social behavior difficulties. For the SS, previous research reported impairments in specific neuropsychological domains and alterations of social behavior. Nevertheless, a description of the neuropsychological and behavioral profile in developmental age is still lacking. For the BWS, only in recent years alterations in social-cognitive development and in social behavior have started to gain attention of clinicians and researchers. However, no study has investigated the neuropsychological and behavioral functioning of children and adolescents with BWS. In this light, this research project aims at providing the first detailed description of the neuropsychological and behavioral profile of children and adolescents with SS and BWS.
Moreover, patients with SS and BWS experience structural alterations of their bodies and are early exposed to invasive diagnostical and medical procedures, which could interfere with the development of body representation. Body representation starts forming early in life through the integration of exteroceptive and interoceptive information, and plays a pivotal role in the social-cognitive development. Given the changes occurring in puberty and the crucial importance of body image in the relationship with peers, adolescence could be seen as a critical period for studying body representation. Thus, this project would investigate body representation at multiple levels (i.e. body image, body schema and interoceptive perception) and evaluate their impact on social-cognitive abilities in adolescents with SS and BWS. It is expected that both the clinical groups show alterations of body representation compared to healthy peers, and that these alterations could associate with impairments in affect recognition and regulation.