SPINA BIFIDA:EDUCATION, PREVENTION, & MANAGING A DIAGNOSIS

By Hope Esposito

WHAT IS SPINA BIFIDA?

• Spina Bifida (SB) means cleft spine in Latin1

• Happens in the womb

• Baby’s spinal column does not close properly

• 8 babies are born with SB in the US every day2

• Most common permanently disabling birth

defect in the United States2

Leonardo da Vinci: Studies of the foetus in the womb3

WHAT IS SPINA BIFIDA?

• Most common of the neural tube defects

• Neural tube contains cells responsible for the formation of:• Spinal cord

• Spine• Brain

• Neural tube develops during the first 3 to 4 weeks of pregnancy4

NEURAL TUBE

MayoClinic.com5

FOUR TYPES OF SPINA BIFIDA

• Occult Spinal Dysraphism (OSD)• Spina Bifida Occulta• Meningocele• Myelomeningocele (Meningomyelocele) or Spina Bifida Cystica

OCCULT SPINAL DYSRAPHISM (OSD)

• Spinal cord grows improperly

• Can cause serious problems as child grows

• Signs a child may have OSD:• A dimple in their lower back• Red marks or dark patches on back• May have tufts of hair or small lumps on back2

• Difficult to detect

• Doctor uses special tools to confirm diagnosis2

SPINA BIFIDA OCCULTA

• Occulta means “hidden”

• Mildest and most common form of Spina Bifida

• One or more vertebrae were not formed correctly

• A layer of skin covers or hides the malformation or opening

• Present in 10-20% of population

• Might not be diagnosed until late childhood, adulthood, or possibly never7

• Rarely causes disability or symptoms

• Usually requires no treatment6

MENINGOCELE

• A sac of spinal fluid comes through an opening in the baby’s back• Spinal cord and nerves are not in this sac• Usually little to no nerve damage• Can cause minor disabilities2 and 6

MYELOMENINGOCELE• Most serious type of Spina Bifida

• Sac of fluid comes through opening in baby’s back

• Part of the spinal cord and nerves are in this sac and are damaged

• Can cause moderate to severe disabilities including:

• Significant bowel and bladder problems

• Loss of feeling in legs or feet

• Leg paralysis7

Myelomeningocele Illustration7

GENERAL SPINA BIFIDA COMPLICATIONS

• Wide range of health issues

• From minor physical problems to severe physical and mental disabilities including:• Trouble swallowing• Seizure disorders• Abnormal sensation and paralysis

• Newborns with myelomeningocele may develop meningitis, an infection in the meninges6, or protective layers of tissue in the central nervous system• could lead to death9

COMPLICATIONS (CONT’D)

• Learning disabilities

• Difficulty paying attention

• Language and reading comprehension problems

• Math comprehension difficulties6

Untitled photograph of boy11

COMPLICATIONS (CONT’D)

• Latex allergies

• Skin problems

• Gastrointestinal problems

• Depression6

• Tendonitis

• Obesity

• Social problems2 and 6

COMPLICATIONS (CONT’D)

• Chiari II Malformation• Causes Hydrocephalus (excess cerebrospinal fluid in and around the

brain)8

• Buildup of fluid creates damaging pressure on the brain and spinal cord

• May require surgical implantation of a shunt, or hollow tube, in the brain that will allow for fluid drainage into the stomach8

• Strabismus (often called crossed-eyes) • A vision problem in which both eyes do not look in the same direction

at the same time10

COMPLICATIONS (CONT’D)

• Additional health problems as a result of Spina Bifida:

• Scoliosis (abnormal curvature of the spine in an “S” or “C” formation)

• Kyphosis (curvature of spine causing a “hunchback” or slouching posture)

• Hip dysplasia (an often debilitating, abnormal formation of the hip socket); eventually causing lameness and arthritis

• Severely limited mobility; may need to use a cane to walk; have leg braces; or may be confined to a wheelchair for the rest of their lives10

WHAT CAUSES SPINA BIFIDA?• Current scientific theories:

• A combination of environment and genetics2

• Hyperthermia (mother experiencing fever while pregnant; or exposed to hot tubs, heated Jacuzzis, etc. while pregnant)13

• Mother is obese14

• Mother previously underwent gastric bypass surgery14

• Mother is a diabetic - 2 to 5 times higher incidence of SB compared to general population15

PREVENTING SPINA BIFIDA• The most important link is:

Insufficient folic acid!!

• Up to 70% of SB cases can be prevented by taking a folic acid supplement10

• Folic acid is a B vitamin, that helps the body make healthy new cells, and keeps blood healthy10 and 12

PREVENTING SPINA BIFIDA

• The CDC recommends women of child-bearing age consume 400 to 800 micrograms (mcg) of folic acid every day12

• Majority of neural tube defects happen before the woman even knows she’s pregnant2

• Doctor may recommend higher dose of folic acid if the woman:• Has had a baby with a birth defect affecting the brain or spine• Has a family member with SB• Is obese12

PREVENTING SPINA BIFIDA• Eat plenty of foods high in Folic Acid:

• Leafy vegetables• Citrus fruits• Beans (legumes)• Whole grains12 and 16

• And foods enriched with Folic Acid:• Breakfast cereals• Breads• Pastas• White rice12 and 16

PREVENTING SPINA BIFIDA • Eating foods high in folic acid is not enough!

• Taking folic acid supplements is absolutely necessary to prevent Spina Bifida!

• The body absorbs folic acid from supplements better than from food16

• Folic acid is water-soluble – this means your body flushes it out with every urination

• Therefore, it is very hard to “overdose” on folic acid, or build-up toxic levels in the body12 and 16

SUSPECT YOUR BABY MAY HAVE SPINA BIFIDA?

There are 3 tests that can determine SB:

1. AFP screening test• A blood test during the 16th and 18th weeks of pregnancy2

2. Ultrasound • To look for visible signs of SB, such as an opening of the spine2

3. Amniocentesis• Small amount of fluid is taken from the womb with a thin needle • Doctor will test for protein levels indicating the presence of SB2 and 10

WHAT IF YOUR BABY HAS SPINA BIFIDA?

• First of all, don’t despair…

• Many children born with SB lead full, happy, productive lives

• Because of medical advances, approximately 90% of babies born

with SB live to be adults

• 80% have normal intelligence

• 75% play sports and participate in physical activities

YOU’RE NOT ALONE• If your baby is diagnosed with Spina Bifida, there are many

resources available to help you.

• Clinics:Cincinnati Children’s Hospital

The Center for Spina Bifida

www.cincinnatichildrens.org/service/c/spina-bifida/default

• Camps:Achievement Centers for Children, Camp Cheerful

www.achievementcenters.org

• Local, national, and online support groups

SO REMEMBER…

• Spina Bifida is a potentially debilitating neural tube defect

• There are four types, causing a wide range of disabilities

• SB develops during weeks 3 and 4, when the neural tube is forming

• Oftentimes, the woman isn’t aware she’s pregnant at this stage

• Most women of child-bearing age should take 400mcg of folic acid daily

• Taking folic acid is the most important preventative measure against

SB2,4,7 and 12

AND REMEMBER…

• Eat plenty of foods with folic acid

• See your doctor as soon as you think you may be pregnant

• The doctor can perform tests to determine if your baby has Spina

Bifida2 and 12

• A diagnosis of SB is not a death sentence – Many children live full lives

• You’re not alone! – There are numerous SB resources and support

groups

REFERENCES

1. Mazur-Mosiewicz, A. (2011). Spina bifida. The encyclopedia of neuropsychological disorders. Retrieved from http://search.credoreference.com.proxy.libraries.uc.edu/content/entry/spendiso/spina_bifida/0

2. Brei, T., Payne, C., & Worley, G. (2014). An expectant parents guide to spina bifida. Spina Bifida Association. Retrieved from http://www.spinabifidaassociation.org/site/c.evKRI7OXIoJ8H/b.8340123/k.1937/An_Expectant_Parents_Guide_to_Spina_Bifida.htm

3. Leonardo da Vinci. Studies of the foetus in the womb. (c.1513). Retrieved April 4, 2014, from: http://www.wikipaintings.org/en/leonardo-da-vinci/studies- of-the-foetus-in-the-womb

4. Ferrara, MH. (ed). 2010. Spina bifida. Human Diseases and Conditions, Vol. 4, 2nd ed. (1558-1562). Detroit: Charles Scribner’s Sons. Retrieved from http://go.galegroup.com.proxy.libraries.uc.edu/ps/i.do?action=interpret&id=GALE|CX2830200401&v=2.1&u=ucinc_main&it=r&p=GVRL&sw= w&authCount=1

5. MayoClinic.com. (2014). Spina bifida. Riverside Health System. Retrieved from http://www.riversideonline.com/health_reference/Healthy-Baby/DS00417.cfm

6. Office of Communications and Public Liaison. (2013). Spina bifida fact sheet. National Institute of Neurological Disorders and Stroke. National Institutes of Health. Retrieved from http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm

7. Centers for Disease Control and Prevention. (2013). Spina bifida. National Center on Birth Defects and Developmental Disabilities. Retrieved from http://www.cdc.gov/ncbddd/spinabifida/facts.html

8. Warf, B. (2011). Hydrocephalus. Children’s Hospital Boston. Retrieved from http://www.childrenshospital.org/health-topics/conditions/hydrocephalus

9. Dugdale, D.C., Vyas, J.M., & Zieve, D. (2012). Meninges of the brain. US National Library of Medicine. National Institutes of Health. Retrieved from http://www.nlm.nih.gov/medlineplus/ency/imagepages/19080.htm

10. Mitchell, L.E, Adzick, S.N., Melchionne, J., Pasquariello, P.S., Sutton, L.N., & Whitehead, A.S. (2004). Spina bifida. The Lancet, 364 (9448), 1885-1895. Retrieved from http://dx.doi.org/10.1016/S0140-6736(04)17445-X

REFERENCES

11. Untitled photograph of boy. Retrieved April 5, 2014, from: https://www.learningally.org/parents-students/learning-ally-approach/dyslexia-resources/homework-help-9-study-tips-for-fewer-tears-and-less-frustration/

12. Wolff, T. (2012). Folic acid fact sheet. Office on Women’s Health, U.S. Department of Health and Human Services. Retrieved from http://womenshealth.gov/publications/our-publications/fact-sheet/folic-acid.html#c

13. Milunsky, A., Ulcickas, M., Rothman, K.J., Willett, W., Jick, S.S., & Jick, H. (1992). Maternal heat exposure and neural tube defects. The Journal of the American Medical Association, 268(7), 882-885. doi:10.1001/jama.1992.03490070064043

14. Watkins, M.L., Rasmussen, S.A., Honein, M.A., Botto, M.A., & Moore, C.A. (2003). Maternal obesity and risk for birth defects. Pediatrics, 111(5), 1152-1158. Retrieved from http://www.scopus.com.proxy.libraries.uc.edu/record/display.url?eid=2-s2.0-0037964438&origin=inward&txGid=C23905B708D02F2A3FFF03807491FE74.CnvicAmOODVwpVrjSeqQ%3a1

15. Sheffield, J.S., Butler-Koster, E.L., Casey, B.M., McIntire, D.D., & Leveno, K.J. (2002). Maternal diabetes mellitus and infant malformations. Obstetrics and Gynecology, 100(5), 925-930. Retrieved from http://www.scopus.com.proxy.libraries.uc.edu/record/display.url?eid=2-s2.0-

0036855169&origin=inward&txGid=C23905B708D02F2A3FFF03807491FE74.CnvicAmOODVwpVrjSeqQ%3a8

16. Talaulikar, V. & Arulkumaran. (2011). Folic acid in pregnancy. Obstetrics, Gynaecology & Reproductive Medicine, 21(5), 147-148. Retrieved fromhttp://dx.doi.org/10.1016/j.ogrm.2011.02.005