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Spina bifida

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A couple comes to see you following their 18-week ultrasound. They have been told that the ultrasound showed that their baby has spina bifida. The family wish to discuss the situation with a paediatrician

How common is spina bifida?

The incidence at birth is <1 in 200.

The number of cases of spina bifida is declining. This is often due to earlier ultrasound diagnosis and the increasing use of folic acid supplements by women of childbearing age.

80% are now diagnosed antenatally and many are terminated in the antenatal period. Blood screening for raised alpha-fetoprotein is helpful if positive.

What is spina bifida?

Spina bifida is a congenital lesion of the spinal cord which results in some parts of the spinal cord and meninges being exposed.

Spinal lesions are classified into:

  • Anencephaly – the natural history is 67% stillborn, 33% neonatal death.
  • Encephalocele – the natural history is 23% stillborn, 43% neonatal death. Many of the survivors have a significant disability – spastic quadriplegia, epilepsy, hydrocephalus, and intellectual disability.
  • Spina bifida

..and where is the lesion?

Most spinal defects are in the lower lumbar to sacral region, but they can occur at any level. Most are located posteriorly.

Spina-bifida

More than 97% of cases of spina bifida are associated with Chiari II malformation in the brain. This causes displacement of the cerebellum, fourth ventricle and medulla through the cisterna magna resulting in a banana-shaped cerebellum. There is also concavity of the frontal bones resulting in lemon-shaped skull and ventriculomegaly.

The more severe lesions can be seen as early as 11-12 weeks, but most are diagnosed at the routine fetal anatomy scan at 18-20 weeks

How can we predict functional outcomes?

Ascertainment of the level of the spinal lesion is the most important predictor of functional outcome. MRI may be used to aid in this – but a thorough high-resolution US examination is more effective at determining the level of the lesion.

There can be associated deformities of the lower limbs such as club feet and hip dislocation. Most neural tube defects are isolated malformations, but up to 15% have an association with other abnormalities (VSD, renal, IUGR), and 3% have an association with chromosomal abnormalities.

A lipomyelomeningocele is the mildest form of spina bifida – usually, there is no Chiari malformation. Mobility issues are harder to predict in these cases though, and they may be progressive. Patients often have incontinence/bowel issues.

The main questions to ask when considering the likely functional outcome are…

  • Is this spina bifida?
  • Where is the lesion? How big? What type?
  • Is there a Chiari malformation?
  • Is there hydrocephalus?
  • Is there a bony deformity?
  • Are there leg movements?
  • Any other anomalies?

Antenatal counselling for spina bifida

Antenatal ultrasound can pick up the signs:

  • Chiari malformation and ventriculomegaly – often the alerting sign but not always present early in pregnancy
  • Lemon and banana signs
  • Splayed vertebrae
  • Soft tissue mass
  • Bony deformity – scoliosis, kyphosis, talipes
  • Leg movements
  • Renal anomalies
spinabifidaante

Obstetricians refer to a spina bifida service when a neural tube defect is diagnosed antenatally. This is usually an urgent referral. The purpose is to discuss the nature and effect of the neural tube defect on their baby.

What do the parents want to know?

It’s important to be aware that the family may have a different agenda from you for this meeting.

They will likely want to know:

  • Will I be able to hold him after he is born?
  • How long will he be in the hospital?
  • Will he walk?
  • Will he have learning difficulties?
  • Will he go to a normal school
  • Will he live independently?
  • Will he be able to have sex?
  • Will he be able to have his own children?

Things we may want them to know:

  • Plan for the closure of the back
  • Possibility of hydrocephalus
  • Treatment of bladder and bowel – e.g. catheters
  • Executive functioning
  • MDT involvement and what a great service we can offer
  • Folic acid education

Make sure you don’t get too carried away with your own agenda!

The general principles to go through in the meeting should be:

  • Aetiology
  • Anatomy – what goes wrong
  • Functional implications: mobility; continence; cognition
  • Estimation of the extent of ability/disability
  • Delivery issues and neonatal care
  • Developmental/clinical management
  • Future pregnancies

What’s the best approach?

  • Ultrasound findings confirm the diagnosis
  • Explore the parents’ reactions to the diagnosis to determine how to give further information
  • Start with what they know
  • Build on what they know about the anatomy
  • What does this mean for function?
  • How does this translate into daily life?
  • Can it be fixed?
  • What is the medical/surgical treatment in the neonatal period?
  • What further treatment?
  • How long in the hospital?
  • What about follow-up?

The parents will have lots of other thoughts going through their minds too, like:

  • Can my baby be delivered normally?
  • Where should my baby be delivered?
  • Will my baby live?
  • Will we be able to cope with a baby with a disability?
  • Do you know any child with a disability?
  • Who in the family knows?
  • How supportive are they?
  • Other supports, friends etc
  • Hospital support, GP, community-baby health, therapists, Northcott Society
  • Philosophical/cultural and religious beliefs

And they will be having thoughts about the future…

  • What type of schooling?
  • What type of independence?
  • What type of work?
  • What about relationships?
  • What about sex?
  • What about parenting?
  • What other quality of life issues?
  • What about genetics?
  • How much additional caring?
  • How much medical/hospital care?
  • How expensive?
  • How limiting physically?
  • How about my other kids?
  • How about future kids?

It’s also worth mentioning to parents that there are continuous improvements in care.

  • Treatment of hydrocephalus
  • Treatment of neurogenic bladder
  • Independence in personal care
  • Improvement in skincare
  • Understanding learning issues

Decision-making about the pregnancy

This is the parent’s decision. It’s about what is best for their baby – there is no right or wrong. Offer support now and in the future whatever the decision.

Give written handouts if parents want them. And offer to meet again if they are continuing with the pregnancy. Provide telephone contact.

The right decision needs to be what is right for the individual couple, at this point in time, in their circumstances, with the limited information/forecasting we can give for the future.

Medical problems in spina bifida

All body systems are involved in spina bifida.

Neurological

  • Hydrocephalus – shunt dysfunction; disconnection; infection; extravasation
  • Meningitis
  • Seizures
  • Brain stem problems – central apnoea, vocal cord paralysis, swallowing dysfunction
  • Eye problems – nystagmus, 6th nerve palsy, optic atrophy, amblyopia, impaired vision
  • Arnold-Chiari malformation
  • Syringomyelia
  • Tethered cord syndrome
  • Diastamatomyelia

In addition to central nervous system problems, spina bifida also affects the peripheral nervous system.

Patients can have lower motor neurone dysfunction, which presents as flaccid paralysis of the muscles. This is a fixed deficit i.e. there is no improvement in nerve function, and no deterioration (unless there are complications). About 10% have some spasticity in their lower limbs. Sensory deficit limits feedback about muscle function, the position of limb, and learning to walk.

Orthopaedic

  • Joint deformity
  • Dislocation
  • Subluxation
  • Fractures: osteoporosis; osteopaenia; joint deformity; instability
  • Osteomyelitis
  • Osteoarthritis

Urological

Patients have inefficient emptying of bladder leading to:

  •   Recurrent urinary tract infections
  •   High-pressure bladder
  •   Ureteric reflux
  •   Hydronephrosis
  •   Renal damage – renal failure
  •   Calculi – bladder, kidneys
  •   Hypertension
  •   Incontinence

Management of urological problems include:

  • Intermittent catheterisation may lead to ureteric stricture
  • Appendicovesicostomy (where the appendix is used as a conduit between the skin and bladder) which may result in stenosis, granulation
  • Dialysis with multiple subsequent issues
  • Renal transplant with multiple subsequent issues

Gastrointestinal

Skin

Sensory loss – reduced pain, position sense resulting in:

  • Pressure areas with subsequent cellulitis
  • Ulcers
  • Sinus tracts/fistulas
  • Poor circulation/discolouration/cold limbs
  • Excoriation (due to incontinence)
  • Burns
  • Lymphoedema
  • Capillary haemangioma in the myelomeningocele repair area
  • Hairy patch in the myelomeningocele repair area
  • Excoriation/skin breakdown in myelomeningocele area secondary to scoliosis/lordosis

Back

Back pain is common – there are multiple causes

  • Scoliosis
  • Kyphosis
  • Lordosis
  • Pelvic obliquity
  • Postural and seating issues
  • Disc degeneration
  • Occult fractures secondary to osteopenia

Respiratory

  • Obstructive apnoea
  • Sleep apnoea
  • Restrictive lung disease due to scoliosis/kyphosis
  • Pneumonia
  • Use of CPAP/BIPAP

Endocrine

Other problems include:

  • Adjustment disorders – family, patient
  • Anxiety
  • Depression – parent, patient
  • Cognitive impairment especially executive functioning
  • Learning issues at school
  • Time commitments to caring
  • Hospitalisations – planned, urgent
  • Sibling concerns
  • Financial impacts
  • Future children

Bladder and bowel management

25% of patients with spina bifida will have renal damage. In the first few years of life, this can be progressive and therefore patients should have 6-monthly renal ultrasounds. They should also have annual urology reviews (BP, urinalysis, UECs).

Patients should only have symptomatic UTIs treated. A DMSA should be carried out if there are concerns about real scarring.

When are urodynamics tests appropriate?

These should be carried out where there is:

  • Unexpected incontinence
  • Increase in leakage between catheters
  • Upper renal tract changes on ultrasound
  • New musculoskeletal symptom

The key to healthy urinary system is regular complete bladder emptying.

Patients usually require medication such as oxybutynin to relax the detrusor muscle and facilitate the storage of urine between catheterisations. Continence pads of varying size and absorbencies will be required. Adolescent males sometimes use a penile appliance.

Teaching clean self-intermittent catheterisation depends on cognitive ability and the level of disability. With clean intermittent catheterisation – use the largest catheter possible at least 4-6 times a day.

What are the principles of bowel management?

Spina bifida is a life-long condition. The ‘toilet timing’ program should commence at around two years of age. Children should have a regular, consistent toileting routine.

To avoid constipation they need a suitable diet, adequate fluids, and regular exercise.

Regular evacuation – usually daily after breakfast or after dinner at night. May need assistance by using a suppository or enema.

What are the best bowel treatments?

Stimulant laxatives should be avoided for long-term bowel problems. The usual preference is lubricants or stool softeners (or bulking agents) if diet alone is not adequate. Macrogel osmotic laxatives are ideal to prevent and treat constipation.

Young people need to be taught to know their own bodies, be observant, and anticipate higher risk times for accidents.

Non-surgical management includes suppositories; small disposable enemas; retrograde bowel washouts; and anal plugs.

When conservative methods fail, a normal saline retrograde bowel washout using a Willis home bowel washout kit, Peristeen anal irrigation, or Cardiomed system may help.

Surgical management includes MACE – Malone antegrade continence enemas (percutaneous caecostomy using a gastrostomy button, Chait button, or appendix).

Rarely a colostomy is required.

Questions about fertility in spina bifida

Folate is essential for rapidly dividing cells, and problems with folate metabolism can lead to miscarriage. Spina bifida risk is not increased for women who have families in later life.

What issues do people with spina bifida face before pregnancy?

Precocious puberty is an issue in some patients with hydrocephalus. Intrauterine factors control timing of puberty and early shunting does not influence the outcome.

Early puberty in the context of disability and immaturity can be a burden. Treatment with GRH agonists can put puberty “on hold” but is expensive.

What fertility issues do girls with spina bifida face?

Girls with spina bifida are usually fertile. Because of early puberty, they may be more fertile early than most and could be subject to exploitation – their maturity and executive functioning deficits contribute. Regular contraceptive precautions should be advised.

Women with spina bifida need to understand the risk of neural tube defects in babies. They should use folate supplementation prior to conception. Antenatal ultrasound can be an aid in early detection.

Couples should consider what would they do as parents if their baby is found to have a neural tube defect.

And what issues do boys with spina bifida face?

Because the spinal cord coordinates erection and ejaculation, sexual function is often reduced in males with spina bifida. Recurrent UTIs can reduce fertility as can retrograde ejaculation.

However, some patients will be fertile even if they are incontinent.

Prognosis in spina bifida

How can we help with learning?

For preschool children:

They should be encouraged to develop age-appropriate skills – facilitate rather than ‘do’. Encourage thinking by extending sentences e.g. ‘What happened next?‘ Enable simple choices. Preschool is excellent preparation for school – and should be strongly recommended.

For school-aged children:

Structured day, regular routines. Didactic teaching, lots of repetition, revision. Concrete reinforcement. Prepare for the day. Anticipate change. May need to assist with socialisation

In the classroom

Structured learningReduce stimulus/business of classroom. Reduce distractions. Simplify the tasks into steps. Make sure the child understands the task. May need help to begin, and organise the task. Memory – need to store information in an organised fashion.

Survival of patients with spina bifida

One-third die before 5 years of age

One quarter dies before 40 years of age from:

  •   Epilepsy
  •   Pulmonary embolus
  •   Acute hydrocephalus
  •   Acute renal sepsis

If there is a thoracic level spinal lesion – only 17% survive to age 40 years.

47% die due to potentially reversible causes:

  • Renal failure – this is preventable as UTI – 7.2% (normal population 0.5%)
  • Osteomyelitis and skin breakdown
  • Pneumonia
  • Pressure ulcers
  • Hypertension

Children with spina bifida have complex needs and will need to see several different specialists regularly throughout their lives. Medical surveillance is key. Education is also imperative, initially for parents and then later as the child grows so they can self-manage as adults. Given the complex care, children are best served in specialist rehabilitation spina bifida clinics with immediate access to allied health and different medical and surgical specialities as required.

Spina bifida is a life-long condition and how we treat children with spina bifida will have a huge impact on their adult health.

About the authors

  • Lydia Garside is a general paediatrician based at Sydney Children's Hospital

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