The following evaluations are recommended:
• Comprehensive evaluation of growth parameters.
• Neurological evaluation, potentially including MRI and/or EEG studies, to assess seizure activity, especially following onset of febrile seizures.
• Comprehensive developmental assessment including motor delays, speech and language development, intellectual disability, and behavioral differences including autism spectrum disorder.
• Gastrointestinal/feeding evaluation to assess feeding ability and nutritional status. Those with swallowing dysfunction may be considered for gastric tube placement, particularly in those with dysphagia and/or continued poor growth on oral feedings alone.
• Orthopedics, physical medicine and rehab, PT and OT to assess gross and fine motor skills, need for adaptive devices, and need for PT/OT.
• Ophthalmologic examination to assess for strabismus.
• Echocardiogram to assess for valvular problems and heart defects.
• A sleep study to identify sleep apnea if suspected.
• Audiologic evaluation if hearing loss is suspected.
• Genitourinary evaluation to assess for undescended testes in males (with consideration of referral to a urologist). A renal ultrasound to assess for renal anomalies can be performed, particularly in individuals with unexplained hypertension and/or a history of urinary tract infections.
• Consultation with a clinical geneticist and/or genetic counsellor.
There are no gene-specific treatments to date for HNRNPU-RNDD. Seizures are often refractory, but often respond to standard antiseizure medications such as sodium valproate, levetiracetam or cannabidiol.
HNRNPU