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Spina Bifida: Update 2008Joshua J. Alexander, MD
Director
The Spina Bifida
Clinic at UNC
Objectives
1. Recognize the different types of Spina Bifida
2. Know why Spina Bifida happens (and how to reduce its incidence)
3. Be familiar with the latest medical and surgical management options for prenatal and pediatric patients.
OutlineOutline
1:00-1:10 Introductions 1:10-1:20 What is Spina Bifida 1:20-1:45 Cause and prevention 1:45-2:15 Medical and Surgical
Management options 2:15-2:30 Questions/ share your
experiences/ evaluations
Outline Types of spina bifida History, prevalence, incidence, etiology and
prevention of spina bifida Prenatal diagnosis and management Motor effects Sensory effects Hydrocephalus and Arnold-Chiari II malformation Spine abnormalities Neurogenic bowel and bladder Secondary conditions My approach to care
Spina Bifida Occulta
Failure of vertebrae to fuse (L-S level) Associated spinal cord or nerve root
malformations Pigmented nevus, angioma, tuft of hair,
dimple or dermal sinus KEY RISK = tethered cord Not usually associated with Arnold-
Chiari malformation
Spina Bifida Cystica Meningocele = menigeal cyst filled with
fluid. Not associated with hydrocephalus Myelomeningocele = sac also contains
dysplastic nerve tissue
History -1652History -1652
Nicolaas Tulp, MD
History (continued)History (continued)
Giovanni Morgagni (1761) Arnold & Chiari (1890’s) John Holter (1955) William Sharrard (1963) Jack Lapides (1972) Shurtleff (1982) Czeizel and Dundas (1992)
Prevalence
2nd most common disability in childhood 1/1000 live births nationally (1-2/1000 live births in North Carolina)
Incidence
Increased risk in those of Irish, German, or Hispanic descent
In NC, Latinos are twice as likely as other groups to have a child with Spina Bifida- 2008 NC MCH report)
Decreased risk in Asians and Pacific Islanders
Why Does it Happen?
Polygenic Inheritance Environmental Influences (Nutrition,
diabetes, heat, valproic acid use) MTHFR (?) Folic Acid
Folic AcidFolic Acid Can reduce risk of neural tube defects (including
spina bifida) by 50-70%
400 micrograms each day (multivitamin) one month prior and through 1st three months after conception
NC WCH State Performance Measure 6: Percent of women of childbearing age taking folic acid regularly.
2003 2004 2005 2006 2007Objective (%) 50 50 50 50 50Actual (%) 42 47 47 38 38
Prenatal Diagnosis
Alpha-fetoprotein in amniotic fluid (16-18 weeks)
Acetylcholinesterase in amniotic fluid Fetal Ultrasound
Prenatal Options
Termination of pregnancy C-section delivery Fetal surgery
Nerve Involvement
NOT ALWAYS SYMMETRIC Spastic and/or flaccid muscle tone Muscle weakness Decreased sensation Neurogenic Bowel Neurogenic Bladder Vasomotor dysfunction
Motor Levels
Thoracic L1-L2 L3 L4 L5 S1 S2-S5
Sensory Levels
T4 T10 L1 L2 L3
L4 L5 S1 S2 S3-S5
Hydrocephalus
Most commonly due to obstruction of Cerebrospinal Fluid (CSF) Flow
VP Shunt done in 85-90% of MMC
(1/3 will require revision at some time)
Hydrocephalus
Symptoms: Headache, irritability, Nausea, Vomiting
Acute Signs: Large Head, bulging anterior fontanelle, prominent scalp veins, lethargy
Chronic Signs: Decreased school performance, personality changes, decreased fine motor skills
Corpus CallosumCorpus Callosum
Connects the two sides of the brain Commonly abnormal in spina bifida with
hydrocephalus Can be agenesis (absence) or thinning. Can affect motor coordination, complex
reasoning, problem solving
Arnold-Chiari Type II Arnold-Chiari Type II MalformationMalformation
Arnold-Chiari II Malformation
Definition: Medulla, Pons, 4th ventricle +/- cerebellar vermis herniated into the cervical spinal canal
Incidence: 80-90% of those with MMC Symptomatic: ~20%
Arnold-Chiari II Malformation
Stridor Laryngeal nerve palsy / vocal cord paralysis Periodic breathing Sleep apnea Dysphagia Aspiration pneumonia CENTRAL RESPIRATORY DYSFUNCTION
(now the most common cause of death in MMC)
Spine Abnormalities
Bifid Spine Vertebral fusion Hemivertebrae
Neurogenic Bladder
Incontinence Urinary tract infections Hydronephrosis Pyelonephritis Renal Calculi
INTERMITTENT CATHETERIZATION !
Artificial SphincterArtificial Sphincter
Mitrafanoff Mitrafanoff
Appendicovesicostomy for intermittent catheterization
Best for children with higher level lesions (less trunk control) and for girls who have hard time with cathing.
Neurogenic Bowel
Colon, Rectum and internal anal sphincter are affected
Decreased motility Constipation Fecal overflow Incompetent Rectum Fecal Incontinence and Constipation QOL
NEED BOWEL TRAINING PROGRAM !
Neurogenic Bowel
High fiber diet Stool softeners Gastro colic reflex Suppositories Enemas
Biofeedback (if intact anocutaneous reflex) MACE procedure
MACE ProcedureMACE Procedure
Secondary Conditions
Fractures Charcot Joints Hip dislocation Scoliosis Kyphosis Foot anomalies Pressure ulcers Burns Obesity
Precocious Puberty UTI’s Hydronephrosis Latex Allergy Syringomyelia Tethered Cord Rotator Cuff tears CTS Ulnar Neuropathy
Don’t Forget Don’t Forget the Family !!the Family !!
Family stress Sibling stress Divorce Loss of family income(7-11 hours/week) Respite Fun !
Team Approach
PM&R ORTHOPEDICS NEUROSURGERY UROLOGY PT OT
Child Parents Teachers Friends Nutritionist Neuropsychologist Vocational Rehab
Crucial Periods
After diagnosis / Birth First Year of Life Preschool 1st grade Middle School High School Transition to Adulthood
When Should Transition Start?When Should Transition Start?
At Birth
How Do You Think We Can Improve Services for
Children with Spina Bifida in NC?
