Spina Bifida

Definition/Description[edit | edit source]

Spina Bifida[1], in general, is defined as "a neural tube defect (NTD) that results when the inferior neuropore does not close, although it has also been suggested that a closed tube may reopen in some cases.[2] Developing vertebrae do not close around an incomplete neural tube, resulting in a bony defect at the distal end of the tube." [3][4]

The exact cause of spina bifida is unknown but there may be associated with genetic, environmental and dietary factors that can predispose the development of the condition in certain individuals. The most commonly researched factor is the association of low levels of maternal folic acid. Folic acid is a vitamin present in many foods and is often added to breakfast cereals. It can also be found as a supplement in the pharmacy. It is thought to be involved in the development and formation of fetal cells and tissues, therefore, it is advised that folic acid should be taken daily in the upcoming months before conceiving and also during pregnancy [5].


Classification[edit | edit source]

Spina Bifida Occulta

It is described as a "benign closed NTD posterior vertebral defect only without a meningeal sac; location: lumbar-sacral spine; usually asymptomatic but can be associated with occult spinal dysraphism; usually no associated defects." [7]


It is described as a "closed NTD without extrusion of spinal cord elements into a meningeal sac; location: cervical, thoracic, lumbar, and/or sacral spine; motor deficits are less likely than with myelomeningocele; structural brain anomalies and Chiari II malformation are less likely." [7]


It is described as an "open NTD posterior vertebral defect and extrusion of spinal cord elements into a meningeal sac; location: cervical, thoracic, lumbar, and/or sacral spine, leads to paraplegia and insensitivity below the lesion and neurogenic bowel and bladder; associated defects include structural brain anomalies.[7]

Prevalence[edit | edit source]

In the United States, spina bifida occurs in less than 1 in 1,000 births.[7] According to the CDC in 2002, there were approximately 24,860 children and adolescents living with spina bifida in the United States.[8] The prevalence is higher among Caucasian children than black children, however, it is most common in Hispanic populations. [8]

Characteristics/Clinical Presentation[edit | edit source]

Spina Bifida Occulta presents with:

  • Depression or dimple in the lower back
  • A small patch of dark hair
  • Soft fatty deposits
  • Port-wine nevi (deep red-purple macular lesions). [9]

Spina Bifida Meningocele presents with:

  • A Sac-like cyst that protrudes outside the spine [9]

Spina Bifida Occulta and Meningocele usually do not present with neurological deficits; however, bowel and bladder incontinence may be present depending on the level of the lesion.

Spine Bifida Myelomeningocele produces more severe impairments:

Signs and Symptoms[edit | edit source]

Children with Spina Bifida can have a variety of symptoms which can vary from mild to severe. The main symptoms include:

Cognitive symptoms

As spina bifida occurs due to problems with the developing spine and spinal cord, this can have an associated effect on the development of the brain. Specifically areas of the brain involved in memory, learning, as well as concentration, understanding and the processing of language. Children may have difficulty with complex motor tasks such as tying laces where good visual and physical coordination is required [10].6 out of 10 children born with spina bifida will have normal intelligence levels, although around half of these will have some form of learning disability [11].

Mobility Symptoms

The spinal cord allows information to travel up and down to the brain in order to control movements made by muscles and joints. As the spinal cord and nerves can be compromised in certain types of Spina Bifida, there are often problems with muscle control and joint movement. In some cases, there may be paralysis of certain muscles which can result in the development of misshapen bones, particularly the feet, and abnormal curving of the spine known as Scoliosis [12]. Those with severe mobility restrictions may also develop thin bones or osteoporosis due to the lack of use of the limbs [13]. The spinal cord and nerves also provide the brain with sensory information through touch. As the spinal nerves can be daged in some forms of Spina Bifida, there may be associated loss of sensation and feeling in the pelvic region and legs. This can cause problems with pressure sores and skin breakdown in infants who are unable to feel the need to change position [14]

Incontinence (Urinary and Bowel)

The nerves travelling through the spinal cord also supply the bladder and bowel, ensuring the muscles within these organs can contract to contain urine and stools within the body. As a result, most children born with Spina Bifida will experience some degree of urinary and bowel incontinence [15]

Associated Co-morbidities[edit | edit source]


  • Osteopenia or Osteoporosis: due to the decreased level of activities of many of these individuals this will ultimately cause a decrease in bone density that will put them at risk for fractures. [16]
  • Obesity: due to decreased activity and sedentary lifestyle.

Complications[edit | edit source]

  • Tethered Cord Syndrome: the spinal cord becomes fixated and begins to stretch which can cause further neurological deterioration. [17]
  • Urinary Tract Infection: often in individuals who have bowel and bladder incontinence will experience recurrent urinary tract infections. [16]
  • Decubitis Ulcer: these occur due to the altered sensation an individual may experience from the neurological deficit. [16]
  • Neurogenic bladder: is a common complication for people with spina bifida. It is normally treated with pharmaceuticals and intermittent catheterization; however, for some patients, this treatment does not suffice. New research suggests the idea of tissue engineering and neuromodulation. Tissue engineering is used to generate new tissue to augment the bladder. Two different theories are utilized: unseeded and seeded. Unseeded “involves the incorporation of a scaffold material (synthetic or biologic) into the host organ, which is used as a template for the ingrowth of native cells that then initiate the regenerative process.” Seeded technology is similar to unseeded; however, it adds “cultured cells to the scaffold prior to implantation into the host.” Neuromodulation modifies the innervation of the bladder so it can potentially function in a normal manner. Neuromodulation includes “non-operative measures such as transurethral electrical bladder stimulation, minimally invasive procedures such as implantation of a sacral neuromodulation pacemaker device, as well as operative measures that reconfigure sacral nerve root anatomy.” Researchers are still in the early stages of development for this treatment option, however with advancements in technology is could prove to be a promising option for patients with spina bifida.

Medical Management[edit | edit source]

Medical management of the newly born child with Spina Bifida varies according to the severity of their condition. Those with Spina Bifida Occulta do not usually require any specific treatment. Some people with Spina Bifida Occulta do not exhibit any symptoms and may only discover they have the condition when they are older after having an X-RAY.

Children born with myelocoele or myelomeningocele will require surgery normally within 2-3 days of birth in order to close the gap in the spine and return the spinal cord and nerves to their original place within the spinal column [18]. This aims to prevent infection and further damage to the exposed spinal cord and spinal nerves. Following surgery, the child will be monitored closely for signs of common post-operative problems associated with this type of surgery, namely hydrocephalus and leaking of cerebrospinal fluid [19]

As the infant gets older, management of incontinence will be an important role of the medical team. Effective management strategies include the use of Clean Intermittent Catheterisation (CIC) and certain drugs which can increase the storage volume of the bladder [20].

Children can also develop constipation due to lack of bowel movements and will require the development of a bowel programme that may involve assisted evacuation of stools. However, this will be based on an individualised assessment of the child and may involve educating the family in order to ensure the programme is effectively integrated into the child’s daily routine [21]

Effective strategies in managing incontinence in children with spina bifida are extremely important in allowing them to socially integrate themselves as they get older and attend school [19].

The management of spina bifida varies depending on the degree the individual is affected with the disease. with acquired brain injury. A cross-sectional study (August 2020) by a multidisciplinary team describing health issues and living conditions in a cohort of adults living with Spina bifida suggest the presence of a higher prevalence of urinary and faecal incontinence, pain, and overweight in adults with Spina Bifida. Persons with the condition greater than 46 years had less complicated medical conditions, better physical and cognitive functions, and higher education, independent living, and participation in society, whereas individuals < 46 years had more secondary conditions such as hydrocephalus, Chiari II malformation, tethered cord symptoms, and latex allergy[22]
Spina Bifida Occulta:

  • There is generally no medical treatment required

Spina Bifida Meningocele:

  • Surgery is often performed early after birth, but the severity of deficits after surgery depends on if there is neural tissue in the sac.  Further treatment is similar to the management listed below for myelomeningocele. [23]

Spina Bifida Myelomeningocele:

  • Generally, surgery follows within the first few days of life to close the spinal cord defect. It is crucial during this time period prior to surgery to protect the nerves that are exposed in the protruding sac. It is also important to prevent infection and additional trauma to the exposed tissues. [17] [23]

Additional surgeries may be required to manage other problems in the feet, hips, or spine. Individuals with hydrocephalus will also require subsequent surgeries due to the shunt needing to be replaced. [17] [23]
The level of malformation of the spinal cord and subsequent neurological defects will influence the individual’s ability to ambulate. Assistive devices may be necessary to aid the individual around the community. [17]
Due to the bowel and bladder problems that are often caused by the neural tube defect, a bowel and bladder program may be necessary. This may include catheterization or a strict bowel and bladder regimen to remain regular. [17]
The MOMS study is a trial that was done to look at the effectiveness of having fetal surgery to fix the malformation of the fetus's spine prior to birth in comparison to waiting until after the child is born to have the surgery.  The idea behind it was that neurological function tends to decrease as pregnancy progresses, so by performing the surgery in utero the baby would not be exposed to such extensive neurological deficits as it would if the surgery was performed after birth.  However, there is a safety concern for both the mother and the fetus when this fetal surgery is performed.  The success of the MOMS trial has now made fetal surgery a treatment option in some cases. [24] [25]


Medications[edit | edit source]

No specific medications are prescribed for the treatment of Spina Bifida.  Depending on the location of the protruding sac, the individual may require the use of an assistive device to aid in walking- such as braces, walker, crutches, or a wheelchair. [23]

Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

Before Birth

  • Alpha-fetoprotein blood test when 16-18 weeks pregnant [23] [27] [28]
  • Amniocentesis may be done to further determine the cause of an increase in alpha-fetoprotein [17] [27] [28]
  • Ultra-sound of the spine [23] [27]

After Birth

  • X-ray, MRI, CT scan [27]
  • Meningocele and myelomeningocele are visible on the physical exam [23] [9]

Etiology/Causes[edit | edit source]


  • Neural groove develops to form the neural tube around day 20 after conception. In normal development, the upper end is supposed to close at day 25 and the lower end is supposed to close at day 27. Three opportunities could cause abnormal closure of the neural tube. If the hyaluronic acid matrix or actin microfilaments have abnormalities early on, the neural tube will not close. If an overgrowth occurs over the caudal end the neural tube will not close, but this occurs later in development. The last chance for the tube not to close properly occurs when the glycoproteins that typically hold the cells together during closure fail to adhere to the tube together. [9]

There is no exact reason known for the cause of Spina Bifida, but there are a variety of environmental and genetic factors that may be potential risk factors. [28] [27]

Mother’s nutrition:

  • Folic acid- less than 400 µg of folic acid per day [23] [3] [29]
  • Increase of: Vitamin A, valproic acid, solvents, lead herbicides, glycol ether, clomiphene, carbamazepine, aminopterin, alcohol [9]


  • 3%-8% reoccurrence rate for parents who already conceived a child affected with spina bifida [9]
  • Incidence rate increases 20x's if the parents already have a child affected with a neural tube defect [29]
  • In comparison to African-Americans, Caucasians more commonly have it, and Hispanics have a higher incidence rate than non-Hispanics [29]

Environmental Factors:

  • Radiation and viruses may have an impact on developing fetus [27]

Systemic Involvement[edit | edit source]

Occulta and Meningocele: no neurological dysfunction typically present [9]


permanent neurological and musculoskeletal deficits present [9]

  1. Neurological: muscle weakness, bowel and bladder problems, seizures, paralysis, absent reflexes, sensory impairments [16][9][28] [23]
  2. Musculoskeletal: hip dislocation, syringomyelia, scoliosis, foot and ankle deformities [27]

Physical Therapy Management[edit | edit source]

The role of the physiotherapist in the early management of children with spina bifida is extremely important as it helps the child to develop an efficient and purposeful movement that can be incorporated into everyday tasks [30].

By optimising and maintaining mobility, this can eventually help children to become more independent as they get older. The physiotherapist will perform an initial assessment of the infants muscle strength and range of movement available at certain joints. This will allow the physiotherapist to determine which muscles are working properly and which ones are weak. This will give them a baseline measurement to use as a comparison as the child grows. This will also allow the physiotherapist to consider what problems the infant may have as they get older and what type of assistive devices or splints they may require when they begin to mobilise [31].

The physiotherapist will specifically be involved in:

Joint Range of Motion[edit | edit source]

  • In the early stages following surgery, the physiotherapist will begin passive range of motion exercises on the infant’s legs  [32]. This will normally be performed 2-3 times a day. They will also demonstrate this technique to parents or carers so that they may continue to do these exercises as a home exercise programme when the infant is discharged.
  • They may progress these exercises to mimic more functional movements which are related to normal everyday movement patterns. For example, whilst bending the left knee and hip, the right side will be kept straight as would happen in a normal walking pattern.
  • These gentle exercises will help to maintain and may help increase the available range of motion available in joints where the movement restriction is mild. In those who have more pronounced restriction, the physiotherapist may advise that the number of exercise repetitions is increased and the movement is held for longer. The ultimate aim of range of motion exercises is to enable the child to learn and perform them independently as they grow up. It is important for the child to continue with these exercises because when they are moving independently, the functioning muscles may not be working through full range of motion. Passive range of motion exercises will therefore help to maintain flexibility and avoid the development of muscle tightenings known as contractures [32].

Muscle strength[edit | edit source]

  • Altered muscle tone is a common symptom of spina bifida, therefore, physiotherapists use resistance training in order to strengthen these muscles that have been weakened. This is normally introduced when the infant is old enough to self mobilise. The physiotherapist can develop a programme of strength and endurance training which has been seen to improve functional abilities in children with spina bifida [33]. These training programmes may involve a variety of exercises for the upper and lower limbs, as well as muscles of the trunk and can help improve upper limb strength and cardiovascular fitness [34].

Positioning and Handling[edit | edit source]

  • Following the first few days after surgery, the infant will normally be placed inside or stomach lying. As the infant begins to stabilise and recover from surgery, the physiotherapist will offer advice as to how to hold the newborn child safely. This is incredibly important as the infant will have undergone major surgery which requires careful handling and positioning at all times. It may be advised that parents or carers hold the child underneath the stomach and across their forearm due to the surgical wound that will be present on the infant’s back. This handling technique may be used when sitting or walking around. When advised, parents or carers may take the infant for a walk around the hospital resting over the shoulder. This can encourage the child to begin to lift his or her head and begin to develop head and neck control [32].

Mobility and Ambulation[edit | edit source]

  • Mobility problems in children with spina bifida can vary according to the level of the spine that has been affected during development [35]. A child with a lesion in the lower back (Lumbar or Sacral levels), is more likely to be able to independently mobilise than one with a lesion in the upper thoracic spine. This can determine whether the child will require a wheelchair, orthotics or assistive devices. [36].
  • Parents and carers are often discouraged from using assistive devices such as infant walkers, jumpers and bouncer chairs as these can delay motor development[37]. Infants require active movement and sensory information from the surrounding environment in order to learn how to move efficiently against gravity and maintain erect sitting and standing postures. This is no different for children with Spina Bifida. Infants with spina bifida benefit from movements that challenge control of the head, neck and torso, rather than the use of passive sitting devices or chairs. Active movement allows them to participate in the learning process. For example, rather than using a walker, parents are advised to physically hold their child in the standing position with as little support as possible to promote the necessary control of the legs and torso. This also allows the child to receive feedback from the floor and the surrounding environment [32].
  • As the child begins to mobilise and ambulate more independently, he or she may be fitted for braces or splints to address any deformities caused by muscle imbalance or joint limitations. Orthoses such as braces and splints are supportive devices aimed at optimising existing muscle function and giving support where the child requires it. The earlier these are fitted and provided, the earlier the child will be prepared for the upright position required of standing and walking [38]. It therefore also enhances normal developmental progression and will eventually help the child take part in normal activities of their age group [32]. Children with Spina Bifida lesions in the upper thoracic regions of the spine may require bracing or splinting of the whole leg up to the level of the hip and chest. This is known as a Hip-Knee-Ankle-Foot Orthoses (HKAFO).
  • Others may require orthotics aimed at stabilising the knee, ankle and foot. These are known as Knee-Ankle-Foot orthoses (KAFO) and Ankle-Foot Orthoses (AFO) [39] Reciprocal Gait Orthoses (RGO) may be also provided in order to promote a normal rhythmic walking pattern in the child [40] [38]. Children may require the additional use of crutches along with orthoses in order to take some stress off the legs [41]. and standing frames are also used to help children with more severe limitations bear weight through their legs and maintain a full range of motion at all lower limb joints [32].
  • Furthermore, some children may require casting as a way of treating and preventing contractures.Casting aims to develop a gradual increase in the range of motion available at a certain joint and is a very effective method of improving range of motion at tight joints without the use of surgery [42]. Other children may benefit from the use of a wheelchair, as it can give them more freedom of movement if their walking is limited and strenuous. This can be alternated with the use of orthosis for shorter distances. A wheelchair can also help children keep pace with other able-bodied people, and enable them to participate in recreational activities at school [32].

Parent/carer education[edit | edit source]

  • Physiotherapy management will eventually be handed over to the parents or carers of the infant. Initially, they will be encouraged to observe the physiotherapist carrying out range of motion exercises and handling and positioning strategies before being asked to duplicate these treatments independently. Following these teaching sessions, certain roles will then be handed over to the parents and carers. Following discharge home and as the child begins to mobilise more independently the parents and carers should actively become involved in assessing their child’s progression through observations at home when playing, sitting, crawling etc. This can help with the early identification of any differences in the child’s movements or sitting postures between the home and the hospital. It may also allow other possible problems to be identified early on so that a management strategy may be developed. This is essential particularly later on when the child becomes more medically stable, as they will not receive as much medical input and interaction as when the child was a new born infant in hospital [32]
  • The physiotherapist, along with other members of the healthcare team, will be able to offer advice and help parents and carers build confidence in their ability to manage their child’s daily routine [32]

In order to properly prescribe exercise training submaximal and maximal testing is necessary.  Research has shown that treadmill speed and 6-minute walk distance are the best ways for detecting change.  However, heart rate and VO2 peak measures are reliable ways to measure physiological output in ambulatory children with spina bifida, especially when combined with functional outcomes such as the treadmill speed and 6-minute walk distance. [43]

There have been benefits shown in individuals with spina bifida that can be attributed to walking such as urinary drainage, bowel function, and peripheral circulation.  The use of different assistive devices has been prescribed to individuals with spina bifida.  A long term study was done on individuals that were given an ORLAU Parawalker (a Reciprocal Walking Orthosis).  Based on past studies the use of these orthoses are higher than other aides, such as conventional KAFOs, that have been studied in the past.  This study suggests that ORLAU Parawalker for children may increase their ability to ambulate which can ultimately provide other benefits that were mentioned earlier.  [44] The psychological adjustment to this congenital disability must be considered from the perspective of the parents, the family, and, of course, the child[45]

Differential Diagnosis[edit | edit source]

  • Spine segmental dysgenesis: A sporadic disorder characterised by congenital acute-angle kyphosis or kyphoscoliosis that is localised to a spinal segment, usually in the thoracolumbar or upper lumbar spine. [46]
  • Caudal regression syndrome (sacral agenesis): A rare disorder associated with maternal diabetes that affects the sacral or lumbosacral spine. [46]
  • Multiple Vertebral Segmentation Disorder: Autosomal recessive disorder characterised by short trunk dwarfism, multiple segmentation anomalies of the vertebral column, and coastal anomalies.
  • VACTERL (vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula and/or oesophageal atresia, renal agenesis, and dysplasia and limb defects): A non-random association of multiple mid-line congenital anomalies including vertebral, anal, and cardiac defects; tracheo-oesophageal fistula; renal anomalies; and limb anomalies. [46]

Case Reports/ Case Studies[edit | edit source]

Resources[edit | edit source]

References[edit | edit source]

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