GATAD2B

Management

We recommend that children diagnosed with GAND been seen for evaluation by a geneticist, a neurologist, a cardiologist, a developmental pediatrician and an ophthalmologist.

Based on our previous and current work, GAND-affected children should receive a developmental assessment, ophthalmological evaluation, echocardiogram, neuroimaging of the brain (when appropriate and taking into consideration risks of sedation), and an EEG if there is clinical suspicion of seizures or staring spells.

Supportive therapies include physical and occupational therapies and speech therapy (PROMPT subtype is preferred with apraxia of speech).

As GAND may present as a combination of other NuRD-associated disorders, it may be prudent to have GAND children undergo evaluation for features of these other NuRDopathies, for example: male genital anomalies (hypospadias, cryptorchism), inguinal hernias, a hearing assessment and dental evaluations (as other NuRD-associated disorders can have deafness and dental/palatal anomalies).