Dystrophinopathies
Conditions
Keywords
Cognitive deficits, Autism-spectrum disorders, Attention deficit hyperactivity Disorder
Brief summary
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.
Detailed description
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: 1. Deep evaluation with research of correlation between DMD patients' genotype and neurological/neuropsychological phenotype: - the nature and severity of the cognitive/executive/behavioral deficits, - the retinal/visual alterations, - functional brain imaging. 2. Targeted cognitive remediation strategies in the same patients, to alleviate the identified neuropsychological and behavioral disturbances. We will place a particular focus on the socio-cognitive and executive weaknesse.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
5 Years to 12 Years
Healthy volunteers
No
Inclusion criteria
* French citizenship, affiliated to the French Social Security, * 5 to 12 years old, * DMD diagnosis confirmed by a genetic analysis predicting breaking in the reading frame of the DMD gene with knowledge of the limits of the mutation, * Follow-up in a French referral or a skills center belonging to Filnemus.
Exclusion criteria
* Severe intellectual deficiency with IQ \< 55, and IQ \< 70 for the deep neurocognitive evaluation (executive and socio-cognitive evaluation), * Cataract except if operated (pseudophakic), * High intraocular pressure, * Cardiac dysfunction with left ventricular ejection fraction \< 35%, * Respiratory dysfunction with force vital capacity \< 70%, * Difficulties in fine motor skills with D3 MFM scale \< 75% * Treatment with methylphenidate: In case of hyperactive patients, the treatment will be transitorily interrupted the week before testing.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Nature and severity of sensory and neuropsychological disturbances | 12 Months | Specify the nature and severity of sensory and neuropsychological disturbances (cognitive, executive, emotional, behavioral and neuropsychiatric) according to the patient's genotype. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlations between sensory and neuropsychological measures | 24 Months | Analyze the correlations between sensory (retinal/visual) and neuropsychological measures, in order to determine if retinal defects represent a signature of neuropsychological impairment severity. |
| Correlation between neuropsychological and functional imaging parameters | 24 Months | Analyze correlation between neuropsychological and functional imaging parameters. |
| Correlation between sensory and functional imaging parameters | 24 Months | Analyze correlation between sensory and functional imaging parameters. |
Countries
France
Contacts
Primary ContactIsabelle DESGUERRE, MD, PhD
Backup ContactAminata TRAORE, Project manager
Outcome results
None listed