Specific clinical guidelines for treatment of individuals carrying pathogenic mutations in SON do not exist. However, it is possible to offer general advice based on the main clinical features.
Treatment of Manifestations
Educational programs should take the presence of intellectual disability and developmental delay into account and should therefore be designed in accordance with 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.
Routine neurologist check-ups are advised, because developmental regression might occur as a result of 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 SON haploinsufficiency whilst an otologist can be consulted for auditory assessment.
Occupational therapy can offer adequate support in the maintenance of daily activities and could therefore enhance self-reliance. This might also offer options to enhance participation within the educational system.
Individuals with SON haploinsufficiency should be screened for the presence of reported congenital malformations. Structural deformities of organs and the skeleton should be treated in accordance with the clinical guidelines of the adequate disciplines in order to relieve symptoms.