Background Spinal dysraphia is a non-fatal foetal anomaly comprising a range of spinal canal fusion abnormalities. There have been recent advances in the diagnosis, treatment and prevention of this condition. The longer term outcomes currently vary within the literature and are based historic cohorts prior to more recent advances in care.
Aims Review the long term outcomes and symptomatology in a current cohort of children with spinal dysraphia.
Methods Retrospective review of medical records of patients with diagnosis of spinal dysraphias. Children were excluded if there was other genetic abnormality or syndrome.
Results We identified 70 children (mean age 10.7, SD 7.1, 41% male). There was 100% survival at 1 year of age and 68 (97%) children were still alive at time of the review. Mortality in both children was secondary to meningitis. Diagnosis was made antenatally in 37%, and postnatally in 63% with 3 children (5.7%) being diagnosed at school age. 51 (73%) were symptomatic and 22 (31%) had evidence of neuropathic bladder and bowel. Antenatal diagnosis (p = 0.047), higher level of lesion (p = 0.044) or shunts in situ (p < 0.001) were all predictive of greater symptomatology. If a patient was found to be symptomatic in one area, they were significantly more likely to also have other symptoms (p < 0.001) supporting the need for regular review in these children. There was a high incidence of urinary symptoms (11.7%) constipation (37%) and orthopaedic problems (such as scoliosis or lower limb abnormalities) (48%) in the absence of neuropathy. Mental health issues were documented in 4 children (5.7%).
Conclusions Spinal dysraphia is associated with high rates of morbidity (73%) with a significantly lower mortality (3%) and incidence of mental health issues (6%) when compared to previous studies. The current follow-up of patients with spinal dyraphias varies, therefore further studies are needed to develop appropriate follow-up strategies for this high risk patient group; including the evaluation for comorbidities and psychosocial complications.
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