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

NCT04993235 | Unknown

• 1 other identifier: RS2021_842
• Study Type: observational
• Target: 92
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Neuropsychological profile; Behavioral assessment; Body perception; Body representation

Outcome Measures

Primary Outcomes (2)

• Neuropsychological domains (Attention and Executive Functions, Language, Memory and Learning, Sensorimotor Functions, Social Perception; Visual-Spatial Functions)

  Mean scaled scores of each domain. Scaled scores range from 1 to 20, with mean = 10 and standard deviation (SD) = 3. Scores lower than 4 indicate specific difficulties.

  At the recruitment - 1 session of 2/2.30 hours

• Emotional-behavioral problems

  Standardized scores at the the Child Behavior Check List. Standardized scores are reported with mean = 50 and SD = 10. Scores higher than 64 indicate possible problems, scores higher than 69 indicate clinical problems

  At the recruitment - 1 session of 10 minutes

Secondary Outcomes (5)

• Body Uneasiness Test questionnaire

  At the recruitment- 1 session of 15 minutes

• Peripersonal space and interpersonal distance

  At the recruitment- 1 session of 20 minutes

• Full-body illusion

  At the recruitment- 1 session of 30 minutes

• Heartbeat perception task and time estimation task

  At the recruitment- 1 session of 15 minutes

• Jumping Jack Paradigm

  At the recruitment- 1 sessions of 10 minutes

Study Arms (3)

Sotos Syndrome

Children and adolescents with Sotos Syndrome

Behavioral: NEPSY-II; Behavioral: CBCL and AQ questionnaires; Behavioral: BUT questionnaire and experimental tasks

Beckwith-Wiedemann Syndrome

Children and adolescents with Beckwith-Wiedemann Syndrome

Behavioral: NEPSY-II; Behavioral: CBCL and AQ questionnaires; Behavioral: BUT questionnaire and experimental tasks

Control group

Adolescents with typical development

Behavioral: BUT questionnaire and experimental tasks

Interventions

NEPSY-II BEHAVIORAL

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

Beckwith-Wiedemann Syndrome; Sotos Syndrome

CBCL and AQ questionnaires BEHAVIORAL

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

Beckwith-Wiedemann Syndrome; Sotos Syndrome

BUT questionnaire and experimental tasks BEHAVIORAL

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

Beckwith-Wiedemann Syndrome; Control group; Sotos Syndrome

Eligibility Criteria

• Age: 5 Years - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

For Aim 1 and 2 participants with SS and BWS aged 5-18 years will be recruited in collaboration with AIBWS and ASSI Gulliver, associations dedicated to families of patients with SS and BWS. For Aim 2, adolescents with typical development will be recruited in local schools.

You may qualify if:

• diagnosis of Sotos Syndrome/Beckwith-Wiedemann Syndrome

You may not qualify if:

• severe motor and sensorial deficits that could interfere with tasks execution
• Adolescents with typical development
• any neurological or psychiatric conditions (e.g., learning disability, behavioral disorders etc.)

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead
• University of Trieste: collaborator

Study Sites (1)

Associazione La Nostra Famiglia - IRCCS Eugenio Medea

Bosisio Parini, Lombardy, 23842, Italy

RECRUITING

MeSH Terms

Conditions

Sotos Syndrome; Beckwith-Wiedemann Syndrome

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Central Study Contacts

Rosario Montirosso

CONTACT

+39031877494; rosario.montirosso@lanostrafamiglia.it

Niccolò Butti

CONTACT

+39031877464; niccolo.butti@lanostrafamiglia.it

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 21, 2021
• First Posted: August 6, 2021
• Study Start: May 28, 2021
• Primary Completion: October 31, 2023
• Study Completion: December 31, 2023
• Last Updated: October 18, 2023

Record last verified: 2023-10

Locations

IT (1)