PhenomeGene — Human Disease Gene Website SeriesTRAPPC6B

Management

There is currently no cure for TRAPPC6B-related syndrome. However, many treatments and therapies can help manage symptoms and improve quality of life. Your child's care should be coordinated by a team of specialists.

Key areas of care:
•    Seizure control: Your child's neurologist will recommend the most appropriate anti-seizure medication with regular follow-up
•    Developmental therapies:Physiotherapy for movement and balance; occupational therapy for daily activities and fine motor skills; speech and language therapy for communication support
•    Communication support:Picture boards, devices, or other tools (AAC) if your child is non-verbal
•    Behavioral support:Psychological support and behavioral therapy for autistic features or behavioral challenges
•    Regular brain scans (MRI): To monitor any changes in brain structure over time
•    Eye check-ups: Some children may have vision problems such as squinting (strabismus)
•    Growth and nutrition:Regular monitoring of weight and height; support with feeding if needed
•    School and learning:Children benefit greatly from special educational support tailored to their needs

Early intervention — starting therapies as early as possible — gives children the best chance to reach their potential.