Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

INITIAL

antenatal diagnosis

1st line – parental genetic counselling + multidisciplinary approach

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INITIAL
|
antenatal diagnosis
1st line – 

parental genetic counselling + multidisciplinary approach

Consultation with a genetic counsellor, the medical director of the regional spina bifida centre (or a specialist paediatrician in spina bifida), and a paediatric neurosurgeon is recommended prior to delivery in order to discuss the diagnosis, prognosis, and care plan at time of delivery.[112]

The genetic counsellor discusses availability of amniocentesis and risk of trisomy 13, trisomy 18, and other rare genetic disorders such as 22q deletion syndrome.

The medical director of the spina bifida centre (or a specialist paediatrician in spina bifida) provides the parents with a realistic understanding of the array of services and supports available to the family when the baby is born. In addition, the medical director can give an overview of initial treatment in the neonatal intensive care unit.

The neurosurgeon discusses the cele repair and the management approach for hydrocephalus.

Plus – specialised obstetric care

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INITIAL
|
antenatal diagnosis
Plus – 

specialised obstetric care

Treatment recommended for ALL patients in selected patient group

Most fetuses affected by spina bifida can be carried to term. However, antenatal care is best provided by an obstetric group that can offer serial fetal ultrasonography to monitor hydrocephalus.

Options regarding termination of the pregnancy, fetal surgery, and term delivery should be discussed between the parents/carers and the obstetrician.[60][61]

The option for caesarean delivery should be reviewed. Although commonly performed, families should be made aware that there have been no definitive studies to show that this improves the outcome for a baby with severe fetal malformations.[60][110] However, if antenatal myelomeningocele surgical repair has been carried out, pre-labour caesarean delivery, at or before 37 weeks, is recommended because of the risk of rupture of the hysterotomy scar during labour.[61]

Consider – fetal surgery

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INITIAL
|
antenatal diagnosis
Consider – 

fetal surgery

Additional treatment recommended for SOME patients in selected patient group

The option for fetal surgery should be discussed.[60][61][102] Most centres perform the surgery between the 23rd and 25th week of pregnancy because of a lower risk of membrane separation and prematurity. Surgery should be performed by an experienced maternal-fetal surgical team only after careful consideration.[87][102][103]

In 2011, the Management of Myelomeningocele Study (MOMS), a randomised prospective efficacy and safety trial of antenatal repair versus postnatal repair of myelomeningocele, documented lower rates of shunt placement (40% vs. 82%) and hindbrain herniation (64% vs. 96%) at 12 months, and better ambulation at 30 months, among infants who had undergone antenatal closures.[87] However, 13% of babies who underwent antenatal surgery were born prior to 30 weeks' gestation. One third of the women had evidence of uterine thinning or an area of dehiscence at delivery. There were no maternal deaths. The perinatal death rate was similar (2%) for both surgery groups.

Since this landmark study, research has centred on refinement of surgical technique and protocols to reduce complications. There has been a significant reduction in prematurity and maternal morbidity in recent years.[104] Antenatal fetoscopic surgery is now offered at many centres and has shown similar postnatal outcomes at 12 months of age compared with open fetal surgery repair.

Long-term benefits of antenatal surgery include less need for shunting and fewer Chiari-related concerns.[106] Leg length discrepancy and need for casting and bracing are reduced in children treated with fetal surgery compared with postnatal repair.[107] Children treated antenatally are more likely to void volitionally compared with those treated postnatally.[108]

ACUTE

neonate or infant

1st line – surgical repair of cele + intravenous antibiotics

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ACUTE
|
neonate or infant
1st line – 

surgical repair of cele + intravenous antibiotics

Neurosurgical repair of the defect is considered the mainstay of treatment for open spina bifida. Closed spina bifida does not usually warrant any immediate surgery. Neonates born at outlying hospitals should be transferred for neurosurgical care shortly after birth, with saline gauze wrapped over the cele (refers to either meningocele or myelomeningocele) and intravenous antibiotic coverage initiated, as for neonatal meningitis, to prevent infection. The cele closure is typically performed within 1-3 days of delivery.[87]

Primary options

ampicillin: consult specialist for guidance on dose

and

gentamicin: consult specialist for guidance on dose

Plus – monitoring for hydrocephalus and supportive care

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ACUTE
|
neonate or infant
Plus – 

monitoring for hydrocephalus and supportive care

Treatment recommended for ALL patients in selected patient group

Neonates born with ventriculomegaly are monitored closely for signs of hydrocephalus. Serial head ultrasound studies may be done for up to 5 months. Hydrocephalus is unlikely to progress after 9 months of age.

The cele repair site should be protected from faecal soiling with a mud flap barrier dressing until fully healed. In addition, gauze may be placed between the gluteal folds to help protect the repair site from contact with stool.

Constant oozing of stool (due to neurogenic bowel) can cause contact nappy dermatitis. This is best managed with barrier cream that contains zinc oxide and by leaving the nappy area open to air whenever possible. Parents should be cautioned not to rub the skin, but rather to pat dry the area after cleansing. Parents should also be advised to avoid carrying their baby in a sling for prolonged periods as this can result in friction injury in the nappy area.

Treatment for neurogenic bowel aims to establish predictable bowel movements and social continence. Interventions may include dietary modifications, use of laxatives, irrigation, or enemas.[128]

Families should be counselled about preventive child health care, including developmental surveillance, immunisation, vision, and hearing screens.[78]

Plus – shunt placement or endoscopic third ventriculostomy/choroid plexus coagulation

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ACUTE
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neonate or infant
|
with hydrocephalus
Plus – 

shunt placement or endoscopic third ventriculostomy/choroid plexus coagulation

Treatment recommended for ALL patients in selected patient group

Neonates born with severe or rapidly progressive hydrocephalus may need to have a third ventriculostomy or ventriculoperitoneal shunt placed urgently. However, there is risk of shunt infection if shunt is placed concurrent with the cele repair surgery.

Endoscopic third ventriculostomy/choroid plexus coagulation (ETV/CPC) is an alternative to shunt placement that is standard of care in many centres. The technique was developed and studied in developing countries where access to follow-up care can be problematic.[114][115] ETV/CPC involves creating an opening in the base of the third ventricle, which becomes the alternative to the blocked outflow from the fourth ventricle, and does not require placement of a shunt. Complication rates for ETV are in the order of 5% to 6% in the short term, and long-term complications may be less.[116][117]

ETV/CPC is not considered a less favourable treatment than shunt placement; it is a standard of care option in this patient population with a different risk/benefit profile and different advantages and disadvantages compared with shunts.[119]

Consider – Chiari decompression surgery

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ACUTE
|
neonate or infant
|
with hydrocephalus
Consider – 

Chiari decompression surgery

Additional treatment recommended for SOME patients in selected patient group

If raised intracranial pressure is ruled out or treated, but symptoms persist, Chiari decompression surgery is usually performed. Infants with brainstem symptoms present at birth are more likely to have brainstem malformation rather than compression. Magetic resonance imaging (MRI) can be performed to determine whether there is compression of the hindbrain at the craniocervical junction; this can help make the decision about Chiari II decompression surgery.

Plus – tracheostomy and/or gastrostomy tube placement

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ACUTE
|
neonate or infant
|
with severe oromotor dysfunction and airway compromise
Plus – 

tracheostomy and/or gastrostomy tube placement

Treatment recommended for ALL patients in selected patient group

Tracheostomy and gastrostomy tube placement is often needed for these infants due to severe oromotor dysfunction and airway compromise.

Plus – intermittent catheterisation and ongoing urological surveillance

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ACUTE
|
neonate or infant
|
with high-risk neurogenic bladder
Plus – 

intermittent catheterisation and ongoing urological surveillance

Treatment recommended for ALL patients in selected patient group

Clean intermittent catheterisation is often initiated before back closure and continued into the postoperative period to ensure maintenance of a low-pressure reservoir. The frequency of catheterisations is then adjusted on the basis of the voiding pattern and the residual urine.

A urodynamic assessment is performed after back closure. It is an important screening tool to identify children with risk factors for future upper tract deterioration. The presence of disorders of sex development, elevated storage pressures (i.e., >40 cm of water), and detrusor overactivity needs to be treated aggressively to prevent renal functional loss. Findings on urodynamic studies associated with a high-risk bladder (i.e., leak-point pressure >40 cm of water, the presence of detrusor sphincter dyssynergia, and small bladder capacity due to detrusor hyperreflexia) are very strong indications to start and/or continue intermittent catheterisation.

A vesicostomy may be considered if the bladder is deemed high risk and there is non-adherence to intermittent catheterisation.

Ongoing urological surveillance is critical for developing urinary continence strategies, preventing upper tract deterioration, and screening for secondary tethered cord.

Plus – prophylactic antibiotic therapy

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ACUTE
|
neonate or infant
|
with high-risk neurogenic bladder
Plus – 

prophylactic antibiotic therapy

Treatment recommended for ALL patients in selected patient group

If hydronephrosis is present, prophylactic antibiotics should be instituted and voiding cystourethrography arranged.

Amoxicillin is recommended until the child is over 2 months of age, at which point either nitrofurantoin or trimethoprim/sulfamethoxazole is recommended.[120]

Primary options

amoxicillin: children ≤2 months: 25 mg/kg/day orally given in divided doses every 12-24 hours

OR

nitrofurantoin: children >2 months: 1-2 mg/kg/day orally given in divided doses every 12-24 hours, maximum 100 mg/day

OR

trimethoprim/sulfamethoxazole: children >2 months: 2 mg/kg orally once daily

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Consider – anticholinergic or botulinum toxin or mirabegron

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ACUTE
|
neonate or infant
|
with high-risk neurogenic bladder
Consider – 

anticholinergic or botulinum toxin or mirabegron

Additional treatment recommended for SOME patients in selected patient group

For those infants with detrusor sphincter dyssynergia on urodynamic study, oxybutynin may be started for its anticholinergic effect, to relax the bladder wall, reduce pressure, and protect the upper urinary tract.[120][121] There is controversy about the neurocognitive impact of oxybutynin on the developing brain.

Cystoscopic administration of botulinum toxin (usually botulinum toxin type A) represents an alternative method of treatment to surgery for children with neurogenic bladder and is considered an alternative to oral anticholinergic therapy for older children and adults.

Mirabegron, a selective beta-3 adrenergic receptor agonist, is a treatment for bladder spasticity that may have fewer adverse effects.

These drugs may only be recommended in infants beyond a certain age; consult a specialist for guidance on the use of these drugs in this age group.

Clean intermittent catheterisation and pharmacological management of bladder spasticity in patients with detrusor sphincter dyssynergia has dramatically reduced the need for augmentation cystoplasty later in life.[122]

Primary options

oxybutynin: consult specialist for guidance on dose

OR

botulinum toxin type A: consult specialist for guidance on dose

OR

mirabegron: consult specialist for guidance on dose

Plus – antibiotic therapy

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ACUTE
|
neonate or infant
|
with bacteriuria
Plus – 

antibiotic therapy

Treatment recommended for ALL patients in selected patient group

In the first 2 months of life, bacteriuria, even if asymptomatic, should be treated. This is because urinary tract infection can be difficult to diagnose in neonates, it can rapidly progress to sepsis, and there is a greater risk of renal cortical scarring in the neonatal period compared with older age groups.

Primary options

ampicillin: consult specialist for guidance on dose

and

gentamicin: consult specialist for guidance on dose

Plus – physiotherapy ± orthopaedic surgery

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ACUTE
|
neonate or infant
|
with orthopaedic deformities
Plus – 

physiotherapy ± orthopaedic surgery

Treatment recommended for ALL patients in selected patient group

Club foot is a common deformity with lumbar or higher-level lesions due to imbalance of muscles around the foot and ankle. Treatments include stretching, casting, surgery, or a combination of these until the foot and ankle can be brought to a weight-bearing position.[125] The goal is to have a braceable foot that can weight-bear in an ankle-foot orthosis or shoe.

Treatment of vertical talus can include physiotherapy to maintain range of motion (ROM) or surgery, depending on the severity of the deformity and functional implications for the child. Serial casting and soft-tissue surgeries are preferred over bony procedures. The goal of treatment is a supple, plantigrade foot.

Treatment for subluxed or dislocated hips depends on the child's sensory and functional level. Treatment may involve stretching to maintain ROM. Abduction splints (e.g., Pavlik harness) and surgery are usually reserved for low sacral-lesion ambulatory patients or if the conditions interfere with sitting, ROM, nappy changing, or perineal care.[126][127] Children that have sensation at the level of the hip may benefit from surgical intervention to prevent painful arthritis in the future.

Hip and knee flexion contractures are usually treated with physiotherapy, involving passive ROM exercises. As the child gets older, physiotherapy focusing on functional mobility and adapted physical education to promote physical activity is recommended. Data on the efficacy of electrical stimulation, exercise training, and motor skills training on muscle strength in children with spina bifida are outdated and limited.[169] Surgery is rarely indicated in the newborn period or infancy.

Consider – ankle-foot orthoses (AFOs)

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ACUTE
|
neonate or infant
|
with orthopaedic deformities
Consider – 

ankle-foot orthoses (AFOs)

Additional treatment recommended for SOME patients in selected patient group

Once club foot deformity has been corrected, AFOs may be fitted to help maintain position of the foot during growth.

AFOs are usually prescribed for vertical talus deformity when the infant begins to weight-bear.

ONGOING

child or adolescent

1st line – multidisciplinary care and surveillance

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ONGOING
|
child or adolescent
1st line – 

multidisciplinary care and surveillance

Children and adolescents should be monitored at least annually for orthopaedic complications that can occur during the adolescent growth spurt. Radiographs are obtained in the sitting position for those who can sit but not stand and in the standing position for those who can stand. It is recommended that the orthopaedist communicate with neurosurgery if there are any concerning neurological findings or deformities such as new onset of cavus feet or rapidly progressive scoliosis that might be indicative of tethered spinal cord. Growing rod surgery is a procedure that can correct spinal curves in children with spina bifida who are still growing. The surgery involves inserting rods into the spine to allow for continued growth while managing the curve. Growing rod surgery with sacral-pelvic fixation is effective in correcting deformity and achieving growth. Curves in the 25° to 50° range can be managed with bracing. Change in gait pattern as teenagers attain adult stature may necessitate use of forearm crutches and bracing across the knee for patients with coronal plane valgus stress. Derotational osteotomy surgery may be needed when tibial and femoral deformities preclude orthotic management. Hip and knee flexion contractures may also require surgical intervention. Fusion surgery for foot deformities should be avoided.[150]

Children are taught to intermittently self-catheterise. Adolescents should be monitored for independence with bowel and bladder management and educated to perform skin checks on a daily basis. Spina Bifida Association: Did you look? Skin integrity bundle Opens in new window

Incontinence should be evaluated annually for both frequency and quantity (volume) of leakage events and for impact on quality of life. The goals for continence should be discussed regularly with the urological care team.[120]

Neurosurgical surveillance during the teen years is important. Tethered cord syndrome occurs when skeletal growth puts traction on the spinal cord, as denoted by back pain with activity, decline in lower extremity strength/sensation, progressive scoliosis, and change in bladder and bowel function. Dermal or epidermal spinal inclusion cysts can also cause these symptoms. Magnetic resonance imaging (MRI) of the spine is warranted when there are symptoms. Hydrocephalus treatment failure (shunt failure, endoscopic third ventriculostomy [ETV] failure) can present with subtle decline in neurocognition and sleep disordered breathing. Polysomnogram, neuroimaging, neuropsychological evaluation, and dilated eye examination may help establish the diagnosis. Acute onset of headaches, swelling along shunt tract, ophthalmoplegia, nausea, and any symptoms related to the Chiari II malformation such as occipital notch or neck pain, numbness or weakness in hands, and dysphagia warrant urgent evaluation and surgical intervention.[93][106][151]

Regular physical activity is important for all children, but especially for those with conditions that affect movement, such as spina bifida. The US Centers for Disease Control and Prevention (CDC) recommends 60 minutes of physical activity a day. Resources are available from the National Center for Health, Physical Activity and Disability. National Center on Health, Physical Activity and Disability: spina bifida and exercise Opens in new window

Plus – psychoeducational evaluation and support

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ONGOING
|
child or adolescent
Plus – 

psychoeducational evaluation and support

Treatment recommended for ALL patients in selected patient group

As children with spina bifida enter school, it is important for parents, educators, and children themselves to understand neurocognitive strengths and weaknesses. In a population‐based study of children with spina bifida and hydrocephalus, about 30% had average Intelligence Quotient (IQ) (>85), 40% had subaverage IQ (70–84), and 30% had intellectual disabilities (IQ <70).[129] Individuals with higher lesion levels have more severe neuroanatomical brain malformations and higher rates of intellectual disability.[130]

Although the neuropsychological profile can vary, the neurocognitive pattern commonly seen in children with spina bifida and hydrocephalus (with or without shunting) involves strengths in learning skills and performing tasks that rely on associative, rule-based processing (e.g., maths fact retrieval, word reading), and weaknesses in learning and performance involve the construction or integration of information (e.g., maths problem solving, reading comprehension).[131]

Many children with spina bifida meet criteria for attention deficit hyperactivity disorder (ADHD).[132] The attention profile of children with spina bifida is characterised by under-arousal and excessive persistence in controlling attentional focus. These difficulties in alerting and orienting to external stimuli are related to disruptions in midbrain and posterior cortex, rather than the frontal lobes. Stimulants are therefore often ineffective.[133][134]

All school-aged children with spina bifida with hydrocephalus (with or without shunting) and associated brain malformation should have a formal psychoeducational assessment at time of school entry.[135]

It is important to orient educators to the learning disability associated with spina bifida, and to advocate for individualised academic support and services. Education fact sheets are available from the Spina Bifida Association. Spina Bifida Association: educational issues among children with spina bifida Opens in new window

Psychoeducational assessments at school can track global intellectual and academic progression, but are not designed to monitor executive functioning, coordinated upper limb, and memory domains, nor adaptive skill acquisition. Because subtle decline in neurocognition can be a presentation of shunt malfunction, it is important for clinicians to monitor academic progress and psychoeducational reports. Children with spina bifida benefit from a full neuropsychological assessment, when available.[135]

Healthcare providers for school-aged children should also routinely evaluate the child's participation in self-management tasks (e.g., intermittent catheterisation) and household chores and offer appropriate parental counselling, nurse education, and regimen adjustment to promote independence. Compared with their typically developing peers, individuals with spina bifida may have a 2-5-year delay in developing autonomy skills.[136]

Repetition and practice with a 'coaching' approach is key. Occupational therapists can evaluate independence and assist with skill development.[137][138][139][140]

Social skills in children are also important building blocks for independence. Many children with spina bifida need assistance building adaptive social behaviours in peer interactions, such as reading social cues and responding appropriately.[141] Educational programmes in the home, school, and broader community that offer opportunities to practise new behaviours are critical.

Plus – puberty and reproductive counselling

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ONGOING
|
child or adolescent
Plus – 

puberty and reproductive counselling

Treatment recommended for ALL patients in selected patient group

The prevalence of central precocious puberty in girls with spina bifida is as high as 50% while estimates in boys range from 10% to 30%.[142][143] While the exact causative mechanism for precocious puberty is not known, studies have demonstrated an association with hydrocephalus, which may alter hypothalamic-pituitary-gonadal axis function.[144] Early recognition and timely referral for further evaluation by a paediatric endocrinologist is recommended.[145]

As teenagers enter puberty and eventually become sexually active, it is important to provide developmentally appropriate general as well as spina bifida-specific information on sexuality and reproductive health. This includes information on folic acid for prevention, latex-free barrier protection, lubricant use to prevent friction injury, and reminders to include skin checks in the perineal area. Both men and women should be advised to catheterise and/or flush their bladders before and after sexual activity to avoid incontinence and urinary tract infection.[146][147]

Women with spina bifida have normal fertility but require high-risk obstetric care prior to and during their pregnancies. Most men with spina bifida have altered fertility.[148][149]

adult

1st line – regular monitoring by neurosurgeon

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ONGOING
|
adult
1st line – 

regular monitoring by neurosurgeon

Adults with spina bifida should continue regular monitoring by a neurosurgeon who is familiar with spina bifida care.

There are a limited number of consensus and expert opinion articles on the medical care for adults with spina bifida.[78][155][156][157][158][159]

Consider – specialist referral

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ONGOING
|
adult
|
with hydrocephalus
Consider – 

specialist referral

Additional treatment recommended for SOME patients in selected patient group

Standard protocols for the management of adult-onset hydrocephalus may miss subtle signs of shunt malfunction in a patient with spina bifida, such as dysphagia, hoarseness, stridor, occipital headaches, arching of the neck, and snoring.

Hydrocephalus that is present in adults with spina bifida is a very different condition from the type of hydrocephalus that begins in adulthood as a result of haemorrhage, infection, or tumour.[160]

Consider – specialist referral

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ONGOING
|
adult
|
with lymphoedema
Consider – 

specialist referral

Additional treatment recommended for SOME patients in selected patient group

A relatively common finding among adults with spina bifida is lymphoedema of the lower extremities.

In one study, adults with spina bifida had almost a 100-fold increased risk of lymphoedema compared with the general population. Lymphoedema was more common in those with higher-level (thoracic) impairment and those who were obese.

Cellulitis and decubitus ulcers are more common in those with lymphoedema.[165]

Consider – specialist referral

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ONGOING
|
adult
|
with osteoporosis
Consider – 

specialist referral

Additional treatment recommended for SOME patients in selected patient group

Osteoporosis is more common in adults with spina bifida than in other adults. In a Swedish study, 33% of subjects had osteoporosis in at least one of the measured sites.[166]

Despite high rates of osteoporosis among adults, spontaneous fractures are actually less common in adulthood than during the adolescent years.[167]

Medical factors such as urinary diversion, renal insufficiency, and use of anticonvulsants increase the risk for osteoporosis.

The optimal strategies for treatment and prevention in this population have not been established.

Consider – sildenafil

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ONGOING
|
adult
|
with erectile dysfunction
Consider – 

sildenafil

Additional treatment recommended for SOME patients in selected patient group

Loss of efferent fibres in adult males leads to impotence as well as to retrograde ejaculation, both of which decrease fertility. Sildenafil has been shown to help erectile dysfunction in men with spina bifida.[161]

Latex condoms should be avoided due to the high prevalence of latex allergies in this population.[163]

Primary options

sildenafil: 25-100 mg orally as a single dose 30 minutes to 4 hours before sexual activity, maximum 1 dose/day

Consider – counselling + high-dose folic acid supplementation

Back
ONGOING
|
adult
|
women of reproductive age
Consider – 

counselling + high-dose folic acid supplementation

Additional treatment recommended for SOME patients in selected patient group

Because of the increased risk of having an offspring with spina bifida, all women of reproductive age who have spina bifida should receive folic acid supplementation at the higher dose of 4-5 mg/day for 1 month before and during the first trimester of their pregnancy.[52][61]

Women with spina bifida who become pregnant generally have a positive outcome with relatively low complication rates.[164]

Latex condoms should be avoided due to the high prevalence of latex allergies in this population.[163]

Primary options

folic acid: 4 mg orally once daily

More

Consider – early screening and treatment

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ONGOING
|
adult
|
with hypertension
Consider – 

early screening and treatment

Additional treatment recommended for SOME patients in selected patient group

One study documented hypertension or pre-hypertension in more than half of young adults with spina bifida at a US regional spina bifida centre. Early screening and intervention for elevated blood pressure in individuals with spina bifida should be considered.[168]

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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