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Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development (Body-PROBAND)

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ClinicalTrials.gov Identifier: NCT04993235
Recruitment Status : Recruiting
First Posted : August 6, 2021
Last Update Posted : August 6, 2021
Sponsor:
Collaborator:
University of Trieste
Information provided by (Responsible Party):
IRCCS Eugenio Medea

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.


Condition or disease Intervention/treatment
Sotos Syndrome Beckwith-Wiedemann Syndrome Overgrowth Syndrome Body Image Body Schema Behavioral: NEPSY-II Behavioral: CBCL and AQ questionnaires Behavioral: BUT questionnaire and experimental tasks

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Study Type : Observational
Estimated Enrollment : 92 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Body Representation, Neuropsychological Profile and Socio-emotional Development in Children With Overgrowth Syndromes, With a Specific Focus on Functional Assessment of Patients With Beckwith-Wiedemann Syndrome and Sotos Syndrome
Actual Study Start Date : May 28, 2021
Estimated Primary Completion Date : July 31, 2023
Estimated Study Completion Date : October 31, 2023


Group/Cohort Intervention/treatment
Sotos Syndrome
Children and adolescents with Sotos Syndrome
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

Beckwith-Wiedemann Syndrome
Children and adolescents with Beckwith-Wiedemann Syndrome
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

Control group
Adolescents with typical development
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




Primary Outcome Measures :
  1. Neuropsychological domains (Attention and Executive Functions, Language, Memory and Learning, Sensorimotor Functions, Social Perception; Visual-Spatial Functions) [ Time Frame: At the recruitment - 1 session of 2/2.30 hours ]
    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.

  2. Emotional-behavioral problems [ Time Frame: At the recruitment - 1 session of 10 minutes ]
    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


Secondary Outcome Measures :
  1. Body Uneasiness Test questionnaire [ Time Frame: At the recruitment- 1 session of 15 minutes ]
    Mean scores obtained in the five dimensions of Body image. Higher scores indicate higher problems.

  2. Peripersonal space and interpersonal distance [ Time Frame: At the recruitment- 1 session of 20 minutes ]
    Peripersonal space and interpersonal distance in meters with social and non-social stimuli (avatar and objects) presented through the computer-based task

  3. Full-body illusion [ Time Frame: At the recruitment- 1 session of 30 minutes ]
    Scores at the VAS assessing sense of ownership overt the virtual body, sense of self-location and tactile sensations. Higher scores indicate higher sense of ownership, self-location and tactile sensations over the virtual body.

  4. Heartbeat perception task and time estimation task [ Time Frame: At the recruitment- 1 session of 15 minutes ]
    Difference between self-perceived and device-recorded heartbeats/seconds

  5. Jumping Jack Paradigm [ Time Frame: At the recruitment- 1 sessions of 10 minutes ]
    Difference between recorded heartbeats and scores at the VAS assessing perceived heartbeats at rest and after physical activity. Higher differences represent lower interoceptive accuracy



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Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

Children and Adolescents with SS and BWS

Inclusion Criteria:

  • diagnosis of Sotos Syndrome/Beckwith-Wiedemann Syndrome

Exclusion Criteria:

  • severe motor and sensorial deficits that could interfere with tasks execution

Adolescents with typical development

Exclusion Criteria:

  • any neurological or psychiatric conditions (e.g., learning disability, behavioral disorders etc.)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04993235


Contacts
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Contact: Rosario Montirosso +39031877494 rosario.montirosso@lanostrafamiglia.it
Contact: Niccolò Butti +39031877464 niccolo.butti@lanostrafamiglia.it

Locations
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Italy
Associazione La Nostra Famiglia - IRCCS Eugenio Medea Recruiting
Bosisio Parini, Lombardia, Italy, 23842
Contact: Niccolò Butti    +39 031877464    niccolo.butti@lanostrafamiglia.it   
Principal Investigator: Rosario Montirosso         
Sponsors and Collaborators
IRCCS Eugenio Medea
University of Trieste
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Responsible Party: IRCCS Eugenio Medea
ClinicalTrials.gov Identifier: NCT04993235    
Other Study ID Numbers: RS2021_842
First Posted: August 6, 2021    Key Record Dates
Last Update Posted: August 6, 2021
Last Verified: July 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: No
Keywords provided by IRCCS Eugenio Medea:
Neuropsychological profile
Behavioral assessment
Body perception
Body representation
Additional relevant MeSH terms:
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Beckwith-Wiedemann Syndrome
Sotos Syndrome
Syndrome
Disease
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn