ZDHHC9

Management

Management is currently symptomatic and tailored to each individual’s needs. Most patients remain under the care of a general pediatrician and some receive ongoing assessment and treatment from a neurologist. Epilepsy treatment depends on the clinical epilepsy syndrome and EEG features diagnosed. Carbamazepine has been a safe and effective treatment in several cases. Assistance from speech and language therapists, psychologists and specialist educational services is very important in order to maximize functional progress for each child. Adolescents and adults may require ongoing support with living skills, access to employment and social inclusion, and mental health support.

Sisters of affected males should be offered carried testing and genetic counselling.