The following evaluations are recommended:
• Comprehensive evaluation of growth parameters.
• Neurological evaluation, potentially including MRI and/or EEG studies, to assess seizure activity.
• 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 indviduals 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 some respond to antiseizure medications such as sodium valproate or cannabidiol.
Families may contact the HNRNP Family Foundation (www.hnrnp.org) or Better Future 4 U (www.bf4u.org) for additional information.
Families can enrol in the HNRNP Family Foundation Natural History Study with Dr. Balasubramanian here: https://www.hnrnp.org/naturalhistorystudy. Email: hnrnpu-natural-history-group@sheffield.ac.uk