Management

At the time of diagnosis, we recommend a developmental assessment to include motor, adaptive, cognitive, & speech-language evaluation. Children should be evaluated for potential early intervention / special education. A thorough neurological examination at the time of diagnosis and if there is suspicion of a movement disorder. An EEG should be performed if there is clinical suspicion of seizures. A cardiac echo and abdominal ultrasound should be performed, as some individuals have cardiac and urogenital anomalies. A hearing test should be performed once.