Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.
We propose a unique longitudinal study in which DMD children aged 5-12 years old will first be engaged in a deep evaluation of a range of cognitive, behavioral, physiological and neural functions (identification of biomarkers based on ERG) and an eligible subgroup of patients will then enter a second study phase (last 2 years) aimed at developing targeted cognitive remediation strategies:
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group 1: PHASE 1 | DMD diagnosis confirmed by a genetic analysis | ||
| Group 2: PHASE 2 | DMD diagnosis confirmed whose neuropsychological data are eligible for remediation |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Nature and severity of sensory and neuropsychological disturbances | Specify the nature and severity of sensory and neuropsychological disturbances (cognitive, executive, emotional, behavioral and neuropsychiatric) according to the patient's genotype. | 12 Months |
| Measure | Description | Time Frame |
|---|---|---|
| Correlations between sensory and neuropsychological measures | Analyze the correlations between sensory (retinal/visual) and neuropsychological measures, in order to determine if retinal defects represent a signature of neuropsychological impairment severity. | 24 Months |
| Correlation between neuropsychological and functional imaging parameters |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
DMD diagnosis confirmed by a genetic analysis
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Isabelle DESGUERRE, MD, PhD | Contact | 01 44 49 48 56 | +33 | isabelle.desguerre@aphp.fr |
| Aminata TRAORE, Project manager | Contact | 01 42 19 27 34 | +33 | aminata.traore6@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Isabelle DESGUERRE, MD, PhD | Hôpital Universitaire Necker - Enfants Malades | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Necker Enfants Malades | Paris | Île-de-France Region | 75015 | France |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D003072 | Cognition Disorders |
| D002659 | Child Development Disorders, Pervasive |
| D001289 | Attention Deficit Disorder with Hyperactivity |
| ID | Term |
|---|---|
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D065886 | Neurodevelopmental Disorders |
| D019958 | Attention Deficit and Disruptive Behavior Disorders |
Not provided
Not provided
Not provided
Not provided
Not provided
Analyze correlation between neuropsychological and functional imaging parameters. |
| 24 Months |
| Correlation between sensory and functional imaging parameters | Analyze correlation between sensory and functional imaging parameters. | 24 Months |