Spina bifida is often diagnosed before birth – increasingly before 20 weeks at the anomaly scan – which means many families begin to navigate its implications before their child is born. That prenatal period can be extraordinarily difficult: there is information to absorb, decisions to make, and a great deal of uncertainty about what the future holds for a child whose scan image shows an open spine.
What is worth knowing early is that the variation in outcomes across children with spina bifida is considerable, and that outcomes overall have improved substantially over the past three decades. Surgical advances, better management of hydrocephalus, and the development of specialised multidisciplinary clinics have changed the prognosis significantly. Understanding the specific level of the defect and its implications – rather than relying on general population statistics – gives a more honest picture of what to expect.
Healthbooq (healthbooq.com/apps/healthbooq-kids) covers complex conditions in children and families navigating additional needs.
What Spina Bifida Is
Spina bifida is a type of neural tube defect (NTD) – a failure of the neural tube (the precursor to the brain and spinal cord) to close completely during the third and fourth weeks after conception. The spine and spinal cord do not develop normally, and part of the spinal column remains open.
There are several types, with very different implications. Spina bifida occulta is the mildest form: there is a gap in one or more vertebrae, but the spinal cord and meninges are not exposed. Most people with spina bifida occulta have no symptoms and may never know they have it; it is often discovered incidentally on an X-ray. A skin dimple, a tuft of hair, or a birthmark over the spine may be an external marker.
Meningocele involves the meninges (the protective coverings of the spinal cord) protruding through the gap, forming a fluid-filled sac. The spinal cord itself is usually intact, and nerve damage is typically limited.
Myelomeningocele is the most severe and most common symptomatic form: the sac contains part of the spinal cord and nerves, which are exposed and typically damaged. This is what most people mean when they refer to spina bifida. It occurs in approximately 1 in 1,000 births in the UK, though this figure has fallen substantially since folic acid supplementation in early pregnancy became standard practice – folic acid prevents approximately 70% of NTDs.
What Determines Outcomes
The level of the myelomeningocele on the spine is the primary determinant of the degree of motor and sensory impairment. The spinal cord functions below the level of the defect are typically affected: a lumbar-level lesion (the most common site) may leave some hip and leg function intact; a thoracic-level lesion results in more complete paralysis of the lower body.
In practical terms, the level of the defect helps predict likely mobility, bladder and bowel function, and the degree of orthopaedic involvement needed. Many children with low lumbar or sacral-level lesions walk independently or with orthoses; those with higher lesions are more likely to use wheelchairs. Most have bladder and bowel dysfunction regardless of level, as sacral nerve function controlling these is frequently affected.
Hydrocephalus
Around 80-90% of children with myelomeningocele develop hydrocephalus – a build-up of cerebrospinal fluid causing increased pressure within the skull. This occurs because myelomeningocele is almost always associated with a Chiari II malformation, a downward displacement of parts of the hindbrain that affects cerebrospinal fluid flow.
Hydrocephalus requires management to prevent brain damage from raised pressure. The standard treatment has been a ventriculoperitoneal (VP) shunt – a tube inserted into the brain's fluid-filled ventricles that drains fluid to the abdomen. Shunts can malfunction or become infected, requiring revision surgery; shunt failure is a medical emergency. Endoscopic third ventriculostomy (ETV), a surgical technique creating an alternative drainage pathway, avoids a permanent implant and has become an alternative in some cases, though its suitability depends on the individual anatomy.
Prenatal Surgery
Fetal surgery for myelomeningocele – closing the defect while the baby is still in the womb – has become available at a small number of specialist centres. The Management of Myelomeningocele Study (MOMS) trial, led by N. Scott Adzick at the Children's Hospital of Philadelphia and published in the New England Journal of Medicine in 2011, demonstrated that prenatal repair significantly reduced the need for shunting, improved motor outcomes, and reduced hindbrain herniation. The trade-off is an increased risk of preterm birth and maternal surgical risk. In England, prenatal repair is available through a small number of specialist fetal medicine units and requires careful multidisciplinary assessment.
Bladder and Bowel Management
Neurogenic bladder – a bladder that doesn't function in a neurologically typical way – is nearly universal in myelomeningocele and requires active management throughout life. An underactive, non-draining bladder risks urinary tract infections and, if untreated, kidney damage from back-pressure. The standard approach in the UK is clean intermittent catheterisation (CIC), typically taught to parents from infancy and to the child as they develop the dexterity and motivation to self-catheterise. Anticholinergic medications help manage overactive bladder, and regular renal ultrasound and kidney function monitoring is standard.
Bowel management similarly requires active planning: a combination of dietary management, regular timed toileting, rectal stimulants, and, for some children, antegrade continence enema procedures (ACE) through a surgically created channel.
Development, Education, and Daily Life
Cognitive ability in spina bifida varies widely. Many children have typical or near-typical intelligence, though processing speed, attention, and executive function difficulties are more common than in the general population. Some children have learning difficulties, more common with higher-level lesions or as a consequence of hydrocephalus and its management.
Most children with spina bifida attend mainstream school, often with mobility adaptations and toileting arrangements in place. Physical access, proximity to accessible toilets, and support for any learning differences are the main considerations. An EHC plan provides a formal mechanism for ensuring these supports are in place.
SHINE (formerly ASBAH – the Association for Spina Bifida and Hydrocephalus) is the main UK charity supporting children with spina bifida and hydrocephalus and their families, providing information, a helpline, and connections to specialist support.
Key Takeaways
Spina bifida is a neural tube defect in which the spinal column fails to close completely during early pregnancy, leaving part of the spinal cord exposed. The most serious form, myelomeningocele, affects around 1 in 1,000 births in the UK (though rates have fallen significantly since folic acid supplementation became widespread). The level of the defect on the spine determines the degree of motor and sensory impairment below that level. Most children with myelomeningocele also have hydrocephalus, requiring management with a shunt or endoscopic third ventriculostomy. With good multidisciplinary support, many children with spina bifida achieve significant independence, and most attend mainstream school.
