Mitochondrial Diseases
Conditions
Brief summary
The major steps forward of the neurosciences in recent years have linked psychiatric diseases, neuropsychological symptoms and brain dysfunctions. The cerebral functioning requiring a big quantity of energy, mitochondria, essential organelles in the cellular energy processes, are at present considered as a way of research for big interest in neurology and in psychiatry. Thus, an increasing number of studies describe potential links between mitochondrial dysfunction and psychiatric symptomatology. The clinical symptomatology of children with mitochondrial cytopathy is varied. Well described neurologically and somatically, it is significantly less in its psychiatric aspects. However, psychiatric symptoms are frequently associated and this symptom has already been described in adult patients. The symptoms mainly include depressive and anxiety disorders, or even tables suggestive of psychotic disorders, which would precede the diagnosis of mitochondrial disease of 13 years on average. Neuropsychological disorders refer to disorders of the higher functions following a cerebral anomaly (language, praxis, motricity, gnosis, visual spatial processing, memory, attention, intelligence, executive functions ...). Tests validated in French and adapted to children and adolescents can identify neuropsychological disorders in these populations.
Interventions
DIAGNOSTIC_TESTPsychiatric assessment
Psychiatric assessment and neuropsychological tests * Test : Wechsler Intelligence Scale for Children (WISC-V) * Test :Behavior Rating Inventory of Executive Function (BRIEF) : BRIEF-Parents, BRIEF-Teacher * Global Assessment of Functioning Scale * Scale : Brief Psychiatric Rating Scale (BPRS) * Test : Children Depression Inventory (CDI) * Scale : Revised-Children's Manifest Anxiety Scale (R-CMAS) * Survey : Pediatric Quality of Life Inventory Version 4.0 (PedsQL™ 4.0) * Scale : Conners' scale (parents and teachers)
Sponsors
University Hospital, Angers
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
6 Years to 17 Years
Healthy volunteers
No
Inclusion criteria
* Child with mitochondrial cytopathy (defined by the presence of a mutation known to cause mitochondrial cytopathy or mitochondrial respiratory chain abnormality) * Aged 6 to 17 years * Beneficiary of a Social Security regime * Parents sign consent
Exclusion criteria
* Child refusal to participate in the study * Complete inability to complete questionnaires (e.g. non-communicating child) * Child already included in intervention research modifying care
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of the psychiatric disorders in a population of children reached of mitochondrial disease | Day 1 | Psychiatric assessment and neuropsychological tests Test : Wechsler Intelligence Scale for Children (WISC-V) Test :Behavior Rating Inventory of Executive Function (BRIEF) : BRIEF-Parents, BRIEF-Teacher Global Assessment of Functioning Scale Scale : Brief Psychiatric Rating Scale (BPRS) Test : Children Depression Inventory (CDI) Scale : Revised-Children's Manifest Anxiety Scale (R-CMAS) Survey : Pediatric Quality of Life Inventory Version 4.0 (PedsQL™ 4.0) Scale : Conners' scale (parents and teachers) |
Countries
France
Outcome results
None listed