Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders

Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders. Behavioural and Psychophisiological Measures

The primary aim of this observational study is to investigate specific aspects of social cognition in dystrophinopathies. Body awareness, interpersonal distance and emotional processing will be measured in a sample of patients affected by Becker (BMD) and Duchenne (DMD) muscular dystrophy, compared with a sample of patients affected by osteogenesis imperfecta (OI), and both compared with a control sample with typical development.

The secondary aim is to study cortical activity at rest, by means of electroencephalography (EEG), to explore frequencies and time course of EEG responses. Moreover, the relationship between EEG activity and neuropsychological, dispositional and subjective measures will be explored through correlational analyses.

Study Overview

• Status: Not yet recruiting
• Conditions: Social Cognition; Osteogenesis Imperfecta (OI); Duchenne / Becker Muscular Dystrophy
• Intervention / Treatment: Other: Electroencephalography (EEG); Other: Social Cognition Tasks

Detailed Description

Study procedure includes: 1. Eligibility assessment according to inclusion and exclusion criteria. 2. Administration of questionnaires and scales for the characterization of cognitive and psychological features related with BMD/DMD and OI : Wechsler Intelligence Scale for Children 4th Edition (WISC-IV), Raven's Progressive Matrices; NEPSY-II; The Child Behavior Checklist (CBCL); PedsQL; Toronto Alexithymia Scale (TAS-20); Emotion Regulation Questionnaire (ERQ); Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA); Multidimensional Assessment of Interoceptive Awareness (MAIA); Body Shape Questionnaire (BSQ-14); and the Autism Spectrum Quotient (AQ, adult or child version) 3. Administration of experimental tasks. The Comfort-Distance Task (CDT) to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality by means of head-mounted displays (OCULUS ©2024 Meta). Interoceptive accuracy will be measured through a modified version of the heartbeat counting task. An emotional priming task will be administered in order to measure emotion processing, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming.

All the tasks will be performed in a counterbalanced order, for an overall duration of about 40 minutes.

4. Recording of resting state EEG will be collected.

• Study Type: Observational
• Enrollment (Estimated): 45

Contacts and Locations

• Study Contact: Name: Valentina Nicolardi, PhD; Phone Number: 0039 + 3200598331; Email: valentina.nicolardi@lanostrafamiglia.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

For the statistical power analysis the size of the effect reported in Candini et al., 2017 (η2p = 0.28) has been considered, about the effect of diagnostic features on the peripersonal space, and the effect reported by Garcia et al., 2023 (η2p = 0.20) about the differences between DMD/BMD patients and neurotypicals in social cognition. The calculation, performed separately for the two different effects, returns a sample size between 17 and 23 minimum patients per group.

Description

Inclusion Criteria:

• Patients diagnosed with Duchenne and Becker muscular dystrophy (genetic and histological diagnosis and clinical diagnosis) (ambulant and non-ambulant).
• Patients diagnosed with osteogenesis imperfecta.
• Control group: participants without any neurological or psychiatric disorder

Exclusion Criteria:

• presence of comorbid diagnoses,
• sensory deficit
• specific condition that could prevent the application of the tests and tasks under study, such as: a) the need for PEG; b) the need for tracheostomy; c) the need for assisted ventilation.
• cognitive level lower than 60.

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
BMD/DMD group; Patients diagnosed with Duchenne and Becker muscular dystrophy (genetic and histological diagnosis and clinical diagnosis) (ambulant and non-ambulant), over the age of four.	Other: Electroencephalography (EEG); Recording of resting state EEG will be collected; Other: Social Cognition Tasks; Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming
OI group; Patients diagnosed with osteogenesis imperfecta, over the age of four.	Other: Electroencephalography (EEG); Recording of resting state EEG will be collected; Other: Social Cognition Tasks; Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming
Control group; Participants without any neurological or psychiatric disorder, over the age of four.	Other: Electroencephalography (EEG); Recording of resting state EEG will be collected; Other: Social Cognition Tasks; Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Interoception	interoceptive index	Day 1
Interpersonal distance	Interpersonal comfort distance, measured in meters (m) within the virtual environment	Day 1
Emotional processing	Visual priming task performance	Day 1
EEG power	EEG alpha power	once
EEG power	EEG beta power	Day 1
EEG power	EEG theta power	Day 1

Collaborators and Investigators

• Sponsor: IRCCS Eugenio Medea

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2025
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): December 1, 2027

Study Registration Dates

• First Submitted: February 17, 2025
• First Submitted That Met QC Criteria: March 11, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: March 11, 2025
• Last Verified: March 1, 2025

More Information

Terms related to this study

• Keywords: EEG; Social Cognition; Interoception; Duchenne / Becker muscular dystrophy; Osteogenesis Imperfecta (OI); Interpersonal distance
• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Mental Disorders; Neuromuscular Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Genetic Diseases, X-Linked; Muscular Disorders, Atrophic; Osteochondrodysplasias; Bone Diseases, Developmental; Collagen Diseases; Neurodevelopmental Disorders; Muscular Dystrophies; Muscular Dystrophy, Duchenne; Osteogenesis Imperfecta
• Other Study ID Numbers: L2-227

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• 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