Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Sponsor
- Centre Hospitalier Universitaire de Nice
- Enrollment
- 6
- Locations
- 1
- Primary Endpoint
- Hamilton Depression Rating Scale
- Status
- Completed
- Last Updated
- 2 years ago
Overview
Brief Summary
The investigators propose to conduct a comparative pilot cognitive and psychiatric profiles of 10 patients Facio-Scapulo-Humeral Dystrophy (= FHSD) type 1 and 10 patients with type 2 FSHD study. For this, the investigators relied on observational components: FSHD2 patients appear more often present with psychiatric comorbidities and seem to have lower cognitive performance compared to FSHD1 patients. This was confirmed by a preliminary study on a small sample population of patients. It seems to exist mainly executive dysfunction associated with attention disorders in patients FSHD2. Moreover, their performance in IQ tests would be low in relation to their socio-educational and compared with patients FSHD1 level.
Investigators
Eligibility Criteria
Inclusion Criteria
- •age ≥ 18 years and \<75 years
- •FSHD patients 1 or 2 with genetic confirmation
Exclusion Criteria
- •Phosphokinase creatine level \> 5 time of the normal
- •Patient as medical history :
- •A history or active neurological disease likely to interfere with the interpretation of results
- •a history of head trauma
- •an infectious disease, hormonal, inflammatory or some deficiency may induce cognitive and / or psychiatric troubles
- •Patient with cons-indication for performing a brain MRI
- •Pregnant, parturient and lactating (producing a serum pregnancy test)
Outcomes
Primary Outcomes
Hamilton Depression Rating Scale
Time Frame: One time at the inclusion
Hamilton Anxiety Rating Scale
Time Frame: One time at the inclusion
Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form
Time Frame: One time at the inclusion
Wechsler Adult Intelligence Scale
Time Frame: One time at the inclusion
Montgomery and Asberg Depression Rating Scale
Time Frame: One time at the inclusion
Quick inventory of depressive symptomatology Self report
Time Frame: One time at the inclusion
Mini Mental Status Evaluation
Time Frame: One time at the inclusion