Management

Genetic counseling is recommended for individuals with rare variants in PPFIA3.

Due to the variable presentation of PPFIA3-related neurodevelopmental disorder, management should be tailored based upon each individual’s symptoms,

Some recommendations to consider following initial diagnosis:
•    EEG in the setting of seizures
•    Evaluation for autism by developmental pediatrics/neuropsychology
•    Early childhood intervention for developmental delays
•    Physical therapy
•    Dental evaluation
•    Swallow studies
•    Brain MRI
•    Familial genetic testing