Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development

Summary

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.

Conditions

• Sotos Syndrome
• Beckwith-Wiedemann Syndrome
• Overgrowth Syndrome
• Body Image
• Body Schema

Interventions

BEHAVIORAL

NEPSY-II

Participants with SS and BWS are administered with selected subtests assessing six different neuropsychological domains

BEHAVIORAL

CBCL and AQ questionnaires

Parents of participants with SS and BWS are administered with questionnaires assessing behavioral problems and autistic traits

BEHAVIORAL

BUT questionnaire and experimental tasks

A questionnaire, a computer-based task, a body-illusion paradigm and two psychophysical tasks assessing diverse levels of body perception and representation. These tasks are administered to adolescents of the three groups

Sponsors & Collaborators

• University of Trieste

  collaborator OTHER

• IRCCS Eugenio Medea

  lead OTHER

Eligibility

Min Age

5 Years

Max Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-05-28

Primary Completion

2023-10-31

Completion

2023-12-31

Countries

• Italy

Study Locations