Spina bifida and encephalocoele

Abstract

Neural tube defects (NTD: spina bifi da (SB), encepha-locele) are potentially serious congenital deformities of the spine and spinal cord that can have a major impact on the quality of life not only of the child but on the entire family. The precise aetiology is uncertain. Although the incidence appears to be decreasing there remain a signifi cant number of newborns with this condition each year. In the past 10 years an awareness of the benefi ts of peri-conceptual folic acid and improved nutrition has signifi cantly decreased the incidence of NTD. The impact of antenatal screening and therapeutic abortion in some jurisdictions has clearly further reduced the incidence. Surviving children face a varied future directly related to the severity of their NTD and to the quality of early interventional services and long term support structures. The patient with NTD is likely to require the expertise of many services and specialists over their lifetime including, the paediatric surgeon/ neurosurgeon/urologist/orthopaedic/ophthalmic sur-geon/paediatric radiologist/social workers/continence nurses and many other varied disciplines. Children with SB face the prospect of multiple surgical, urological and orthopaedic interventions for the duration of their lives and must cope with the effects of poor or zero ambulation, bladder and renal failure, hydrocephalus and the complexity of multiple shunt/bladder or bowel and shunt procedures. The management objective for these children aims to provide as normal a life as possible, to minimise the effect of their disability in areas such as mobility, continence and education. In addition, urinary system monitoring is essential to safeguard against the complications of a neuropathic bladder and renal failure. © 2009 Springer Berlin Heidelberg.