Clinical trial NCT06874166: Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders
Official title: Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders. Behavioural and Psychophisiological Measures
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Duchenne / Becker Muscular Dystrophy
Osteogenesis Imperfecta (OI)
Social Cognition
Keywords: Social Cognition
Duchenne / Becker muscular dystrophy
Osteogenesis Imperfecta (OI)
EEG
Interpersonal distance
Interoception
Lead sponsor: IRCCS Eugenio Medea
Sponsor class: OTHER
First posted: 2025-03-13
Enrollment: 45
Sex: MALE
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
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.

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Interoception
timeFrame: Day 1
measure: Interpersonal distance
timeFrame: Day 1
measure: Emotional processing
timeFrame: Day 1
measure: EEG power
timeFrame: once
measure: EEG power
timeFrame: Day 1
measure: EEG power
timeFrame: Day 1
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
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