FBXO11

Management

Specific clinical guidelines on the treatment of individuals carrying pathogenic mutations in FBXO11 do not exist. Currently, only general advice based on the main clinical features can be given.

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. A psychologist and/or psychiatrist can be involved to offer support for the behavioural and psychological issues. 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 in case of epilepsy.

Ophthalmologic evaluation upon diagnosis and subsequent ophthalmologic care in case of strabismus or hypermetropia.

Screening for congenital heart abnormalities can be considered. Structural deformities of organs and skeleton should be treated in accordance with the clinical guidelines.