105. Prevalence of Tethered Cord Syndrome in Rare Genetic Disorders- Symptom Survey in 83 Pediatric KBG Patients

Authors: Alisa Pugacheva

KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. KBG patients experience bladder and bowel symptoms, scoliosis, and costovertebral anomalies [Low et al. 2016], all of which have been commonly seen in Tethered Cord Syndrome (TCS). We explored whether a significant correlation existed between symptoms and signs present in KBG patients diagnosed with TCS (dTCS) and those with suspected TCS (sTCS).Methods: Beyond the Diagnosis (https://www.beyondthediagnosis.org/), a local nonprofit organization, distributed an optional survey to members of their Facebook page in August 2020. Responses were anonymized and symptom prevalences and Pearson correlation coefficient (r) between specific symptoms were calculated, with objective signs clustered into the neurocutaneous, GI and GU, and orthopedic categories. Significance testing was performed on the Pearson analysis using the Student t-test, with t < 0.220 being significant (?? = 0.05, N = 83, df = 81).
83 KBG patients responded (dTCS, n = 10, sTCS, n = 73, average age = 9.71). While sacral dimple was the most prevalent symptom overall (60%+ in both patient groups), it was not significantly correlated with any other symptom or sign. Among the significant correlations found, our highest correlations (p < 0.005) were coordination issues and scoliosis (0.0004), frequent headaches and scoliosis (0.0004), bladder or bowel changes, and orthopedic signs (0.0002). Overall, back pain (6), frequent headaches (6), bladder and bowel changes (6), and scoliosis (5) had the greatest number of significant correlations in our data set.
We show a high prevalence of key TCS symptoms can be found in surveyed KBG patients. Providers should be especially wary of KBG patients presenting with sacral dimple, back pain, frequent headaches, bladder and bowel changes, and scoliosis as these were highly correlated in sTCS and dTCS patients.