SPINA BIFIDA

Incidence and etiology

Spina bifida is one type of neural tube birth 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.
Developing vertebrae do not close around an incomplete neural tube, resulting in
a bony defect at the distal end of the tube.

No single definitive cause, has yet been identified.

The increased availability of maternal vitamin

supplements, more accurate prenatal testing, and
pregnancy termination options have greatly reduced
the incidence of babies born with this diagnosis in
much of the world.
 Incidence and etiology
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
 The most commonly researched factor is the association of low
levels of maternal folic acid.
Incidence and etiology
1) Low levels of maternal folic acid prior to conception
• It is recommended to women to receive a daily dose of (400 µg of folic acid during
the months prior to conception) and (600 µg through the first trimester of
pregnancy.)
• With improved education and the support of the medical community, this level of
folic acid can be reached through improved diet, dietary supplements, and
fortified foods.
• Folic acid is abundant in dark green leafy vegetables, beans, nuts and seeds,
citrus fruits, enriched grains, pasta, bread, and rice.
Incidence and etiology

2) Maternal use of valproic acid, an anticonvulsant, is also known to

increase the potential for spina bifida. It appears that the developing nervous
system is especially sensitive to disruption after exposure to this drug.

3) Maternal use of antidepressants has also been examined and is

considered another possible risk factor.

4) Maternal hyperthermia during the first trimester of pregnancy

Classification
Classification
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.“

Meningocele
• 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.
Classification
Myelomeningocele

• 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.
Characteristics/Clinical Presentation
• 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).
• Spina Bifida Meningocele presents with:
• A Sac-like cyst that protrudes outside the spine
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:
• Flaccid or spastic paralysis
• Bladder incontinence
• Musculoskeletal deformities (scoliosis, hip dysplasia, hip dislocation, club foot, hip/knee contracture)
• Hydrocephalus, alone with Type I or II Arnold Chiari malformation
• Trunk hypotonia
• Delayed automatic postural reactions
Signs and Symptoms
• Children with Spina Bifida can have a variety of symptoms which can vary from
mild to severe. The main symptoms include:
Mobility Symptoms
• 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.
• Those with severe mobility restrictions may also develop thin bones or osteoporosis due
to the lack of use of the limbs.
• 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.
Signs and Symptoms
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
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
• 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.
Diagnostic Tests/Lab Tests/Lab Values
Before Birth
• Alpha-fetoprotein blood test when 16-18 weeks pregnant
• Amniocentesis may be done to further determine the cause of an
increase in alpha-fetoprotein
• Ultra-sound of the spine
After Birth
• X-ray, MRI, CT scan
• Meningocele and myelomeningocele are visible on the physical exam
Medical Management
• 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. 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 hydrocephalus and leaking of cerebrospinal
fluid.
• 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.
• 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.
• Effective strategies in managing incontinence in children with spina bifida are extremely important in
 Medical Management
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.
• 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.
• Assistive devices may be necessary to aid the individual around the community.
• 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.
Physical Therapy Management
• The physiotherapist will perform an initial assessment of:
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.
Physical Therapy Management
Positioning and Handling
• Following the first few days after surgery, the infant will normally be placed
stomach lying.
• It 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.
• Parents or carers may take the infant for a walk around the hospital resting
over the shoulder, to encourage the child to to lift his or her head and begin
to develop head and neck control
Physical Therapy Management
Joint Range of Motion
• In the early stages following surgery, the physiotherapist will begin passive range of
motion exercises on the infant’s legs.
• 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.
• 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.
• Passive range of motion exercises will help to maintain flexibility and avoid the
development of muscle tightenings known as contractures.
Physical Therapy Management
Muscle strength
• Altered muscle tone
• The physiotherapist can develop a programme of strength and endurance
training.
• 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.
Mobility and Ambulation
• Vary according to the level of the spine that has been affected during development.
• 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.
• Using assistive devices such as infant walkers, jumpers and bouncer chairs are often discouraged from as
these can delay motor development.
• 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.
• 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.
• 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. It therefore also enhances normal developmental progression and will
eventually help the child take part in normal activities of their age group.
Mobility and Ambulation
• 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)
• Reciprocal Gait Orthoses (RGO) may be also provided in order to promote a
normal rhythmic walking pattern in the child.
Mobility and Ambulation
• Children may require the additional use of crutches along with orthoses in
order to take some stress off the legs.
• 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.
Mobility and Ambulation
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
Mobility and Ambulation
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.