Transcript The TelAbility Project Using Telecommunications to Improve

Spina Bifida: Update 2008
Joshua 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.
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Outline
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
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Outline
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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 ArnoldChiari malformation
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Spina Bifida Cystica
Meningocele = menigeal cyst filled with
fluid. Not associated with hydrocephalus
 Myelomeningocele = sac also contains
dysplastic nerve tissue
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History -1652
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Nicolaas Tulp, MD
History (continued)
Giovanni Morgagni (1761)
 Arnold & Chiari (1890’s)
 John Holter (1955)
 William Sharrard (1963)
 Jack Lapides (1972)
 Shurtleff (1982)
 Czeizel and Dundas (1992)
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Prevalence
2nd most common disability in childhood
 1/1000 live births nationally
 (1-2/1000 live births in North Carolina)
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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
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Why Does it Happen?
Polygenic Inheritance
 Environmental Influences (Nutrition,
diabetes, heat, valproic acid use)
 MTHFR (?)
 Folic Acid
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Folic Acid
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Can reduce risk of neural tube defects (including
spina bifida) by 50-70%
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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 2007
Objective (%)
50
50
50
50
50
Actual
(%)
42
47
47
38
38
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Prenatal Diagnosis
Alpha-fetoprotein in amniotic fluid (1618 weeks)
 Acetylcholinesterase in amniotic fluid
 Fetal Ultrasound
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Prenatal Options
Termination of pregnancy
 C-section delivery
 Fetal surgery
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Nerve Involvement
NOT ALWAYS SYMMETRIC
 Spastic and/or flaccid muscle tone
 Muscle weakness
 Decreased sensation
 Neurogenic Bowel
 Neurogenic Bladder
 Vasomotor dysfunction
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Motor Levels
Thoracic
 L1-L2
 L3
 L4
 L5
 S1
 S2-S5
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Sensory Levels
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T4
T10
L1
L2
L3
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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)
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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
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Corpus 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
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Arnold-Chiari Type II
Malformation
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%
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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)
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Spine Abnormalities
Bifid Spine
 Vertebral fusion
 Hemivertebrae
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Neurogenic Bladder
Neurogenic Bladder
Incontinence
 Urinary tract infections
 Hydronephrosis
 Pyelonephritis
 Renal Calculi
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INTERMITTENT CATHETERIZATION !
Artificial Sphincter
Mitrafanoff
Appendicovesicostomy for intermittent
catheterization
 Best for children with higher level
lesions (less trunk control) and for girls
who have hard time with cathing.
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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 !
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Neurogenic Bowel
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High fiber diet
Stool softeners
Gastro colic reflex
Suppositories
Enemas
Biofeedback (if intact anocutaneous reflex)
MACE procedure
MACE Procedure
Secondary Conditions
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Fractures
Charcot Joints
Hip dislocation
Scoliosis
Kyphosis
Foot anomalies
Pressure ulcers
Burns
Obesity
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Precocious Puberty
UTI’s
Hydronephrosis
Latex Allergy
Syringomyelia
Tethered Cord
Rotator Cuff tears
CTS
Ulnar Neuropathy
Don’t Forget
the Family !!
Family stress
 Sibling stress
 Divorce
 Loss of family income(7-11 hours/week)
 Respite
 Fun !
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Team Approach
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PM&R
ORTHOPEDICS
NEUROSURGERY
UROLOGY
PT
OT
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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
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When Should Transition Start?
At Birth
How Do You Think We
Can Improve Services for
Children with Spina
Bifida in NC?