Abstract Details

Title Clinical Presentation of Tethered Cord and Outcomes of Tethered Cord Untethering Surgery in ZC4H2-Associated Rare Disorders (ZARD)

Topic Child Neurology and Developmental Neurology

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-020

Objective To characterize the prevalence and clinical presentation of tethered cord (TC) and outcomes of surgical untethering in pediatric patients with ZC4H2-Associated Rare Disorders (ZARD).

Background ZARD encompasses various X-linked allelic syndromes caused by variations in the ZC4H2 gene, which encodes a zinc-finger protein critical in spinal cord development. Recent studies suggest a high frequency of TC in children with ZARD, but its prevalence, presentation, and surgical outcomes in this population remain unknown.

Design/Methods The ZC4H2-Associated Rare Disorders Natural History Study (ZARD-NHS) is a single-site, non-randomized, longitudinal study involving the prospective evaluation of participants with confirmed ZC4H2 pathogenic variations. Over 24 months, participants are assessed through telemedicine, which includes medical record reviews, caregiver interviews, and standardized virtual physical exams. TC diagnoses were confirmed via MRI, and surgical outcomes were evaluated based on caregiver-reported symptom changes.

Results Among 51 participants, 40% (21/51) had confirmed TC diagnoses. 63% of participants (32/51) had a spine MRI and 66% of these participants (21/32) had TC. Prevalence was not statistically different across sex or mutation type. Caregivers of participants with TC were more likely to report spasticity/contractures (p < 0.05), autonomic dysfunction (p < 0.01), gait abnormalities (p < 0.01), GI abnormalities (p < 0.05), generalized muscle weakness (p < 0.05), and urinary retention (p < 0.05). Seventeen participants (81% of those with a TC diagnosis) underwent surgical untethering, with 71% reporting symptomatic improvement after surgery, particularly in urological function, spasticity, and pain.

Conclusions This study identified a prevalence of TC in participants with ZARD (40-66%) and highlighted the benefits of surgical untethering. Participants with ZARD and TC were more likely to exhibit spasticity/contractures, urinary retention, generalized muscle weakness, and gait abnormalities than participants without TC. MRI screening of the lumbar spine is essential for TC diagnosis, and neurosurgical consultation for tethered cord release can result in improved outcomes.

Authors/Disclosures
Sue Park PRESENTER	Miss Park has nothing to disclose.
Sydney Peters	Ms. Peters has nothing to disclose.
Ryan Carrier, MD (University of Rochester)	Dr. Carrier has received personal compensation in the range of $500-$4,999 for serving as a Project Stakeholder with TANGO2 Research Foundation .
Kristin Falbo, MS	Mrs. Falbo has nothing to disclose.
Kristen Sportiello, MD	The institution of an immediate family member of Ms. Sportiello has received research support from National Institutes of Health (NIH). An immediate family member of Ms. Sportiello has received personal compensation in the range of $50,000-$99,999 for serving as a Research Assistant with National Institutes of Health (NIH).
Hayley Schultz	Ms. Schultz has nothing to disclose.
Alexander Paciorkowski, MD	The institution of Dr. Paciorkowski has received research support from University of Rochester.
Catherine E. Nicholas, MD (University of Rochester)	Dr. Nicholas has nothing to disclose.
Melissa A. LoPresti, MD, MPH	Dr. LoPresti has nothing to disclose.
Shreya Mandalapu	Shreya Mandalapu has nothing to disclose.
Sarah Mohajeri Moghaddam, MD	The institution of Dr. Mohajeri Moghaddam has received research support from Radiological Society of North America.
Ashlie Nguyen	Ashlie Nguyen has nothing to disclose.
David Bearden, MD (University of Rochester School of Medicine)	Dr. Bearden has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Bearden has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Praxis. Dr. Bearden has received personal compensation in the range of $100,000-$499,999 for serving as an Expert Witness for law firms.

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