Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders

NCT06874166 | Not Yet Recruiting

• 1 other identifier: L2-227
• Study Type: observational
• Target: 45
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Duchenne / Becker Muscular Dystrophy; Osteogenesis Imperfecta (OI); Social Cognition

Keywords

Social Cognition; Duchenne / Becker muscular dystrophy; Osteogenesis Imperfecta (OI); EEG; Interpersonal distance; Interoception

Outcome Measures

Primary Outcomes (6)

• 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

Study Arms (3)

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); Other: Social Cognition Tasks

OI group

Patients diagnosed with osteogenesis imperfecta, over the age of four.

Other: Electroencephalography (EEG); Other: Social Cognition Tasks

Control group

Participants without any neurological or psychiatric disorder, over the age of four.

Other: Electroencephalography (EEG); Other: Social Cognition Tasks

Interventions

Electroencephalography (EEG) OTHER

Recording of resting state EEG will be collected

BMD/DMD group; Control group; OI group

Social Cognition Tasks OTHER

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

BMD/DMD group; Control group; OI group

Eligibility Criteria

• Age: 4 Years+
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne; Osteogenesis Imperfecta

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Central Study Contacts

Valentina Nicolardi, PhD

CONTACT

0039 + 3200598331; valentina.nicolardi@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: February 17, 2025
• First Posted: March 13, 2025
• Study Start: September 1, 2025
• Primary Completion (Estimated): September 1, 2027
• Study Completion (Estimated): December 1, 2027
• Last Updated: March 13, 2025

Record last verified: 2025-03