Specific clinical guidelines do not exist to advise on the treatment of individuals carrying pathogenic mutations in FBXO11. However, it is possible to offer general advice based on the main clinical features.
Treatment of manifestations
Educational programs should take into account the presence of intellectual disability and developmental delay and should therefore be designed in accordance to one’s psychological, intellectual and motor capabilities. Physiotherapy might relieve motor and musculoskeletal problems whilst ameliorating feeding problems. Communicational skills could be enhanced via speech therapy. The latter can also ameliorate feeding problems by adequate training in swallowing. Feeding difficulties might require placement of a G-tube.
Routine neurologist check-ups are advised as developmental regression might occur, although it appears to be rare in the clinical context of FBXO11. The cause of developmental regression can either be progressive brain abnormalities or epilepsy. It is important to realize that seizures can occur even though a person has previously been seizure-free.
Ophthalmologists can potentially offer options to diagnose or treat vision problems associated with FBXO11 haploinsufficiency.
Occupational therapy can offer adequate support in the maintenance of daily activities and could therefore enhance self-reliance. It might also offer options to enhance participation within the educational system. A psychologist and/or psychiatrist can be involved to offer support for the behavioural and psychological issues with which the individual is confronted.
Individuals with FBXO11 should be screened for the presence of reported congenital malformations. Special attention should be given to minor skeletal abnormalities involving the hands and/or feet as these are most common. Structural deformities of organs and skeleton should be treated in accordance with the clinical guidelines of the adequate disciplines in order to relieve symptoms.