NEDESBA affects multiple systems so care of individuals should be carried out by a multidisciplinary team focussing on the clinical features of the affected individual. All affected individuals should have regular check-ups to monitor progress of their condition.
Anti-convulsant medications might be of benefit to individuals with recurrent seizures and epilepsy. Early multi-disciplinary education and rehabilitation intervention is recommended to those with global developmental delay. Continuous special education support is provided to those with intellectual disability and behavioural difficulties. Rehabilitation equipment such as a walker, scooter, or motorized wheelchair are recommended to enhance mobility independency.
To date there have been no active therapeutic programs exploring treatments for NEDESBA.
Genetic counselling is recommended for carriers, and prenatal testing options might be taken into consideration.
The relative frequency of the TRAPPC4 c.454+3A>G variant in the general population suggests that testing for this variant in children with microcephaly and neurodevelopmental regression is warranted. Whole-genome sequencing alone or with RNAseq is recommended as a diagnostic tool in individuals with undiagnosed rare diseases, especially in cases where exome-sequencing yields negative results.
TRAPPC4