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)

http://www.spinabifida.asn.au/images/shunt.gif

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

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?