Spina Biifida for Physiotherapy Students

1. Spina Bifida

2. Spina bifida is a congenital defect that affects the spine and is usually
apparent at birth in which part of the spinal cord and its meninges are
exposed through a gap in the backbone.
• It's a type of Neural Tube Defect.
The neural tube is the structure in a developing embryo
that eventually becomes the baby's brain, spinal cord
and the tissues that enclose them.

3. • Typically, the neural tube forms early in
pregnancy and it closes by the 28th day
after conception.
• In babies with spina bifida, a portion of the
neural tube doesn't close or develop
properly, causing problems in the spinal cord
and in the bones of the spine.
• Spina bifida can range from mild to severe,
depending on the type of defect, size,
location and complications.

4. o The average worldwide incidence of spina bifida is 1 to 10 cases
per 1000 births, but marked geographic variations occur
Epidemiology
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053142/
o The prevalence of NTDs in India has been reported to vary from
0.5 to 11 per 1000 births.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974957/#:~:text=%5B3%5D%20NTD%20
comprises%20spina%20bifida,based%20studies%20from%20different%20cities.

5. Etiology
Doctors aren't certain what causes spina bifida.
It's thought to result from a combination of:
• Genetic
• Nutritional
• environmental risk factors, such as a family history of neural tube defects
• folate (vitamin B-9) deficiency.

6. Risk factors
o Folate deficiency. Folate, the natural form of vitamin B-9, is important to the
development of a healthy baby.
o Family history of neural tube defects.
o Some medications: anti-seizure medications, such as valproic acid
o Womens with Diabetes.
o Obesity.
o Increased body temperature.

7. Spina bifida occulta
Myelomeningocele
Meningocele
Types

8. Myelomeningocele:
When people talk about spina bifida, most often they are referring to
myelomeningocele.
Myelomeningocele is the most serious type of spina bifida.
With this condition, a sac of fluid comes through an opening in the baby’s back.
Part of the spinal cord and nerves are in this sac and are damaged.
This type of spina bifida causes moderate to severe disabilities, such as problems
affecting how the person goes to the bathroom, loss of feeling in the person’s legs
or feet, and not being able to move the legs.

9. Meningocele:
Another type of spina bifida is meningocele.
With meningocele a sac of fluid comes through an opening in the baby’s back.
But, the spinal cord is not in this sac.
There is usually little or no nerve damage.
This type of spina bifida can cause minor disabilities.

10. Spina Bifida Occulta:
Spina bifida occulta is the mildest type of spina bifida.
It is sometimes called “hidden” spina bifida.
With it, there is a small gap in the spine, but no opening or sac on the back.
The spinal cord and the nerves usually are normal.
Many times, spina bifida occulta is not discovered until late childhood or
adulthood.
This type of spina bifida usually does not cause any disabilities.

11. Clinical Features
• Bladder and bowel problems (incontinence)
• Sexual dysfunction.
• Weakness and loss of sensation below the defect.
• Inability to move the lower legs (paralysis) and other cognitive impairments.
• Orthopaedic malformations such as club feet or problems of the knees or
hips.

12. 1. Walking and mobility problems.
2. Orthopedic complications:
Children with myelomeningocele can have a variety of problems in the legs and
spine because of weak muscles in the legs and back.
• Curved spine (scoliosis)
• Abnormal growth
• Dislocation of the hip
• Bone and joint deformities
• Muscle contractures
3. Bowel and bladder imapairements
4. Hydrocephalus: accumulation of fluid in the head
Complications

13. 5. Shunt malfunction:
Shunts placed in the brain to treat hydrocephalus can stop working or become
infected. Some of the warning signs of a shunt that isn't working include:
• Headaches
• Vomiting
• Sleepiness
• Irritability
• Swelling or redness along the shunt
• Confusion
• Changes in the eyes (fixed downward gaze)
• Trouble feeding
• Seizures

14. 6. Chiari malformation type II.
Chiari malformation type 2 is a common problem with the brain in children who have
the myelomeningocele type of spina bifida.
The brainstem is the lowest part of the brain above the spinal cord. In Chiari malformation type 2, the
brainstem is elongated and positioned lower than usual.
This can cause problems with breathing and swallowing. Rarely, compression on this area of the brain occurs
and surgery is needed to relieve the pressure.
7. Skin problems: Latex allergy, wrinkles on skin
8. Tethered spinal cord: Tethered spinal cord results when the spinal nerves bind to
the scar where the defect was closed surgically.
9. Other complications: urinary tract infections, gastrointestinal (GI) disorders,
depression, learning disorders such as problems paying attention, and difficulty
learning reading and math.

15. Evaluation and Diagnosis
Most myelomeningoceles are discovered by routine ultrasound evaluation between
16 and 18 weeks into the pregnancy.
If no skin covers the defect, abnormally high alpha-fetoprotein (AFP) levels in the
blood and amniotic fluid will support the diagnosis.
Fetal ultrasound depicting myelomeningocele
Sonographic features suggestive of myelomeningocele
include a cystic mass anywhere on the spine.

16. ✓ Fetal echocardiogram — to determine any problems with the heart
✓ Amniocentesis — to confirm the presence of elevated amniotic fluid alpha-
fetoprotein (AFAFP) levels and acetylcholinesterase (AChE), which indicate open
neural tube defects
✓ High-resolution level II ultrasound — to confirm the diagnosis and determine the
location of the lesion, and to assess for any other birth defects such as club feet.
✓ Ultrafast fetal MRI — to confirm presence of the
Chiari II malformation and to screen for evidence
of any other neurologic abnormalities

17. Treatment
The two main spina bifida treatment options are fetal surgery during pregnancy or
surgery on the baby right after birth.
Deciding whether prenatal or postnatal spina bifida repair is appropriate is
influenced by several considerations, including
• Gestational age,
• The level of the myelomeningocele lesion on the spine,
• Presence of the Chiari II malformation
• Maternal health factors.
➢ Spina bifida surgery before birth:
Because spinal cord damage is progressive during gestation, prenatal repair of
myelomeningocele may prevent further damage.

18. ➢ Spina bifida surgery after birth:
If postnatal spina bifida surgery is recommended or selected, pregnancy is monitored
and a cesarean delivery is planned at 37 weeks.
Traditional spina bifida treatment takes the form of surgical repair 24 to 48 hours
after birth.
The child will undergo general anesthesia.
A pediatric neurosurgeon removes the MMC sac, if one is present, and closes the
surrounding tissue and skin over the defect to protect the spinal cord.
After surgery, baby will receive care in our Newborn/Infant Intensive Care Unit
(NICU).

19. References
1. https://www.mayoclinic.org/diseases-conditions/spina-bifida/diagnosis-
treatment/drc-20377865
2. https://my.clevelandclinic.org/health/diseases/8719-spina-bifida
3. https://emedicine.medscape.com/article/311113-treatment
4. https://www.chop.edu/conditions-diseases/spina-bifida
5. https://en.wikipedia.org/wiki/Spina_bifida

20. Thank You
Presented by: Dinu Dixon
MPT- Neurology