Treatment in a multidisciplinary team is recommended and is directed to the symptoms manifested by the patient. Currently, no curative treatment is available for TRAPPC6B-related syndrome.
Special attention should be given to:
• Epilepsy management: Early initiation of antiepileptic therapy; regular monitoring and adjustment of medications; referral to a pediatric epilepsy specialist
• Developmental monitoring:Regular assessment of cognitive, motor, and language development with tailored early intervention programs
• Motor rehabilitation: Physiotherapy for hypotonia and motor delays; occupational therapy for fine motor skills
• Communication support:Augmentative and alternative communication (AAC) strategies for non-verbal patients
• Behavioral management: Psychological support and, where necessary, pharmacological management for autistic features or behavioral problems
• Regular neurological evaluation:To monitor for disease progression, especially in older patients
• Brain MRI: Baseline MRI at diagnosis; repeat imaging if there is clinical deterioration
• Ophthalmological evaluation: For strabismus and other visual problems
• Nutritional support: Monitor growth and address feeding difficulties if present
Genetic Counselling
The TRAPPC6B-related syndrome has an autosomal recessive inheritance pattern. When both parents are confirmed carriers, the recurrence risk in subsequent pregnancies is 25% (Figure 2). Prenatal diagnosis (via chorionic villus sampling or amniocentesis) and preimplantation genetic diagnosis (PGD) are available. Carrier testing for at-risk relatives should be offered.
Figure 2: Pedigree showing autosomal recessive inheritance of TRAPPC6B-related syndrome
