Carried by: DefiScience/AnDDI-Rare
References:
Clinician(s): Boris CHAUMETTE (SeqOIA), Romain REY (AURAGEN)
Biologist(s): Thierry BIENVENU (SeqOIA), Gaetan LESCA (AURAGEN)
Presentation
This new pre-indication combines an existing pre-indication, ‘Syndromic schizophrenia’, with a new pre-indication for bipolar disorders. This ultra-high-throughput sequencing (UHTS) pre-indication aims to identify rare genetic diseases in children and adults with major psychiatric disorders, particularly in early-onset, neurodevelopmental, neurodegenerative, atypical or resistant forms.
Criteria before considering a discussion in MDM-FMG
- Early onset age
- Resistance to treatment
- Early and significant adverse effects of treatment
- Associated neurodevelopmental disorder (e.g. autism spectrum disorder, intellectual disability, learning disorder, special education, etc.)
- Cognitive or motor disorders suggestive of a neurodegenerative origin (e.g. decline in executive or memory functions at an early age)
- Dysmorphia or organic disease suggestive of a genetic origin (e.g. resistant epilepsy, cardiac defect, etc.)
- Family history of psychiatric disorders or isolated cases within the family
- Atypical presentation of the disorder (e.g. visual hallucinations, confusion, catatonia, etc.)
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM Major Psychiatric Disorders
National
Paris / Lyon