Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants.

AIM: To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. METHOD: This was a retrospective cross-sectional patient registry study using surveys collected through the Gould Syndrome Foundation Registry, completed by individuals or parents of children with COL4A1/2 variants. Rates of neurological diagnoses were reported, and associations between delivery type and neurological diagnoses were measured using χ2 tests, with significance defined as a p-value less than 0.05. RESULTS: Survey data characterized neurological diagnoses in 71 children (31 female, 40 male) with COL4A1 (n = 59) or COL4A2 (n = 12) variants. Birth by vaginal delivery occurred in 44 out of 71 (62%). Antenatal diagnosis of stroke was reported in 11 patients (15%) and was associated with increased likelihood of Cesarean section delivery (p = 0.016). Neurological complications of COL4A1/2 were common, including cerebral palsy (54%), epilepsy (42%), and stroke (48%), but no association was detected between these diagnoses and delivery type. INTERPRETATION: Perinatal and childhood neurological complications are common in individuals with COL4A1/2 variants. Future studies on the natural history of individuals with COL4A1/2 should systematically document delivery type and perinatal complications to inform optimal management.