Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

Not Applicable

Completed

• Conditions: Muscular Dystrophy, Facioscapulohumeral
• Interventions: Behavioral: Psychiatric test

• Registration Number: NCT02032979
• Lead Sponsor: Centre Hospitalier Universitaire de Nice

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2013-12-10
• Study First Submitted QC: 2014-01-09
• Study First Posted: 2014-01-10
• Study Start: 2014-10-20
• Primary Completion: 2015-07-01
• Study Completion: 2015-07-01
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-10
• Last Update Posted: 2023-11-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 6

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)

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
FSHD patient	Psychiatric test	-

Primary Outcome Measures

Name	Time	Method
Quick inventory of depressive symptomatology Self report	One time at the inclusion
Mini Mental Status Evaluation	One time at the inclusion
Hamilton Depression Rating Scale	One time at the inclusion
Hamilton Anxiety Rating Scale	One time at the inclusion
Quality of Life Enjoyment and Satisfaction Questionnaire - Short Form	One time at the inclusion
Wechsler Adult Intelligence Scale	One time at the inclusion
Montgomery and Asberg Depression Rating Scale	One time at the inclusion

Trial Locations

Locations (1)

Hôpital Pasteur; 🇫🇷 Nice, France