Management

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

GARND-affected children should receive a developmental assessment, renal ultrasound, 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 (although no GARND cases have been reported with seizures).

Supportive therapies include physical and occupational therapies and speech therapy.

As GARND 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).