Spina Bifida:

An overview of the most common permanently disabling birth defect

in the United States

Anne Marie Webster, APRN, MSN, CPNP, PMHS

Test your knowledge… Pre-test

Question #1 Why is the rate of Spina Bifida and other

associated Neural Tube Defects declining? A. Implementation of folic acid fortification in

cereals and recommendations for prenatal folic acid supplementation

B. Early detection of NTDs with elective terminations of pregnancy

C. Underreporting on birth certificatesD. All of the above

Question #2 Taking daily folic acid in a multivitamin

before getting pregnant can reduce the chances of having a child with Spina Bifida by what percent?

A. 50B. 90C. 30D. 70

Question #3 Which of the following are proven risk factors

that increase the chance of having a pregnancy with a NTD?A. Maternal obesity, smoking, high maternal temperatures

early in pregnancy, alcohol abuseB. Maternal obesity, anticonvulsant use, high maternal

temperatures in early pregnancy, a previous NTD affected pregnancy

C. Smoking, anticonvulsant use, high maternal temperatures early in pregnancy, Hispanic ethnicity

D. Maternal obesity, alcohol abuse, smoking, a previous NTD-affected pregnancy

Question #4 Which of the following is not a typical

problem associated with Spina Bifida?

A. Mobility ProblemsB. ADHDC. Hearing problems/deafnessD. HydrocephalusE. Urinary Tract Infections

Question #5 The new fetal surgery for Spina Bifida has

been shown to A. Reduce the rates of needing a shunt for

hydrocephalusB. Reverse damage that has already taken place

in the spinal cordC. Increase overall cognitive scores and

intelligenceD. Decrease mortality rates for mothers and

affected infants

Question #6 An older individual with Spina Bifida is

more at risk for all of the following except?

A. DepressionB. DiabetesC. Social IsolationD. Decubitus UlcersE. Obesity

Current Statistics One out of 2,500 newborns in the U.S. is born with SB About 70,000 persons are in U.S. living with this condition Occurs during 3rd-4th week of pregnancy before most

women know they are pregnant 400 mcg Folic Acid EVERY DAY to help prevent-4,000mcg if

have had previous NTD

Spina Bifida Terminology Spina Bifida “split or divided-spine” and is a general term for

several different spinal cord defects and is a type of Neural Tube Defect (NTD)

Chiari II Malformation-abnormal development of lower part of brain (hindbrain)-can cause cervical cord dysfunction

Meninges-protective cover of the spinal cord Meningocele-meninges protrude through spinal column Myelomeningocele-meninges and spinal nerves protrude

through spinal cord opening Spina Bifida Occulta-small defect of some of the bones in the

spine-no open abnormality at birth, usually asymptomatic Lipomeningocele/Lipomyelomeningocele-fatty-defect in the

spinal cord

Terminology Continued… Hydrocephalus-excessive

spinal fluid in and around the brain

Syrinx-a fluid-filled space in the spinal cord that can cause neurologic symptoms

Neurogenic Bowel/Bladder-the condition where the bowel/bladder does not empty correctly, usually due to nerve damage and decreased sensation

How does this relate to me in my job?

Yes, Spina Bifida is on the decline, however, people with SB are living longer and we are seeing new chronic problems that we have never seen before!

There are 1500 babies born each year in the United States, the 30 year survival rate is near 90%

Children with SB ages 1-17 have average medical expenditures 13 times greater than children without Spina Bifida

Not just the spine…Multisystem Disease

Hydrocephalus Tethered Cord Club feet/limb abnormalities Skin Ulcerations/breakdown Scoliosis/Kyphosis Mobility problems Neurogenic Bowel Neurogenic Bladder Learning Disabilities ADHD Obesity Depression Decreased abilities for

independent ADLs

Chronic Disease Level of defect often correlates to

level of sensation/mobility-not always!

Symptoms progress over time, many surgeries

Daily maintenance of urine and bowel-CIC and regular Urology appts have decreased renal failure and improved life-span

Lack of transition and services for adults, many adult providers are not familiar with these needs in adults

Persons living longer-problems with chronic pain (hardware in back), depression, social-isolation, obesity, osteoporosis

Burden of Disease Many appointments Frequent admissions- average admission 12.5 days Transportation Issues-adaptive drivers licenses, lifts Caregiver Issues- FMLA, daily ADLs, stress, affects on other children School Issues-IEP Therapists-PT/OT/ST Cost of supplies/medications (i.e.. Adult diapers not covered, bowel

supplies not covered) Advocating for the child/family member 20% are able to maintain employment full-time as adults Lack of support for families

Things are looking up!!! There are more resources

today than ever before! CDC is currently doing studies

to establish a National Spina Bifida Patient Registry and a SB electronic medical record

CDC is funding 15 states to report birth defects (not SC)

With technology and routine Urologic care, we can prevent renal complications in most children

New fetal surgery New options for shunts, 3rd

ventriculostomy SBAA great resource

MOMS: Management of

Myelomeningocele Study Funded by the National Institutes of Health, 2003-2010 183 total participants Published results 2/2011 One group had fetal surgery between 19-25 weeks gestation and

were monitored the remainder of the pregnancy; other group had surgery at birth—both groups delivered the infant at the high-risk fetal center

Exclusion criteria-maternal, fetal, obstetric reasons (obesity, other fetal malformations, hx preterm labor, etc)

Fetal surgery done at three hospitals, Children's Hospital of Philadelphia, Vanderbilt University Medical Center, and University of California-San Francisco

The children were examined and tested at 12 and 30 months of age

FindingsPrimary Outcomes: Death, placement of a shunt, or the need for a shunt A composite test of mental development and an

assessment of motor function

Secondary Outcomes: Neonatal morbidity and mortality Surgical/Obstetric complications Locomotion capabilities Assessment of disability

Findings Prenatal group 68% met one of the

primary outcomes (undesirable), 98% of the postnatal group met these

Less brain stem herniation in prenatal group (64/96%)

Prenatal 2 or more levels above predicted/postnatal 2 or more levels below in motor function

Postnatal with higher incidence of tethered cord

Findings Continued Prenatal Complications-(pre/postnatal %)

preterm delivery (below 37 weeks)-79%/15%

placental abruption-(26%/0%)

spontaneous membrane rupture-(48%/0%)

Oligohydramnios average birth weight- 2383g versus 3039g Uterine dehiscence and/or uterine rupture with subsequent

pregnancies

Take Home Points/Study Limitations

Strict exclusion criteria in moms (obesity) Experienced centers doing the fetal and postnatal

surgery Children have been followed only to 12, 30

months-no long-term data No data on Urologic function Cognitive scores not significantly different at 30

months, children may require a shunt later in life

What can I do? Review their medication list thoroughly,

make no assumption