Spina Bifida Flashcards
Open neural tube defects
brian, spinal cord or spinal nerves are exposed through defects in the meninges and skull or vertebral collumn
(ancephaly, myelomeningocele, meningocele)
Closed neural tube defects
skin covered lesions under which the nervious system structures are abnormally formed
(spina bifida oculta, split cord malformation, derman sinus tract, tethered spinal cord, intraspinal lipoma)
Signs of a closed NTD
sacral dimple. gluteal cleft, tuft of hair or skin tag at sacral area
assess dimple with otoscope to see if there is skin at base, palpate the dimple for the coccyx
spina bifida
mildest form - often not diagnosed until adulthood
occulta means hidden
meningeocele
part of the spinal cord protrudes through the spine like a sac
there is no nerve damage
Myelomeningocele
Most common and most severe type (85%)
opening on the spine where both nerve roots and spinal cord tissues protrude unto a fluid-filled sac on the back
Upper lesions- thoracic and higher lumbar areas
associated with significant motor and sensory defecits and structural abnormalities in lower extremities
Lower lesions- lower lumbar and sacral regions
less likely to have defecits/structural anomalies
Functional defecits of urogenital and lower intestinal tract can occur with
lesions at all levels and are likely
prevalence is decreasing due to
improved prenatal nutrition, folic acid supplementation and mandatory enrichment of flour with folate
Ethnicity at higher risk
latino women
corn flour doesnt have folate mandate
and those who have recently moved here
occurs more freuently in
younger women
often in the first pregnancy
Maternal risk factors for SB
exposure to alcohol, valporic acid, carbamazepine (seizures/bipolar/nerve pain), isotretinoin (acne), hyperthermia from hot tubs/saunas, malnutrition (esp folate), diabetes, obesity
Family h/o NTD increases risk by
20-fold
SB genetic factors
irish, scottish, northern europeans possibly due to altered folate metabolism
chromosomal disorders like trisomy 13/18 and microdeletion 22q11 are linked to NTDs
How are open NTDs diagnosed?
Prenatally
ultrasound and serum markers
Serum marker for open NTDs
maternal serum alpha-fetoprotie (AFP)
evaluated between 16-18 weeks
elevated with open myelomeningocele
if abnormal US is used to eval head/back
amniocentesis can eval for AFP and acetylchoinesterase, an enzyme found in CSF
Chrom eval to r/o associated conditions
What do we do if an open NTD is discovered at birth?
cover the lesion
prone positioning, transfer to NICU with neurosurgeon for emergent repair
parenteral ATB until closure to prevent CNS infection
Sensory and motor defecits
lower extremities and genitals
sensory defecits - skin breakdown/ulcers - careful assessment is needed
decreased male or female sexual function - ED
Bowel and bladder dysfunctions
60% have some degree
almost all myelomeningocele cases have neurogenic bladder
most have disorders with innervation of lower int tract and anus with lower tract dysmotility, poor or absent sphincter control, leads to fecal incontinence
may require cath and bowel programs
ankle and foot orthotics
bracing
walkers or wheelchairs
encourage standing position for bone calcification- limited standing will lead to leg legnth discrepancy and increased risk of fractures
referral to PT/OT
cognitive development
most have normal intelligence with severe learning disabilities, nonverbal disorder, poor executive skills
factors affecting cog dev: shunt infection, Chiari ll malformation, hydrocephalus with repeat shunt replacements, neuronal migration disorders,
DEVELOPMENTAL surveilence at all visits -dev and learning disorders can present at any age
hydrocephalus
occurs in 85% of pts with myelomeningoceles
usually requires shunt placement
may be caused by closure of the defect with changes to CSF draining
Chiari ll malformations s/s
associated with myelomeningeocele
occurs from herniation of cerebellar vermis, brainstem, and 4th ventricle
s/s: dysphagia, poor/prolonged feeding, pooling of oral secretions, cyanosis, choking, coughing, nasal regurgitation, hoarseness/stridor, aspiration, apnea, stiffness, weakness, decreased arm function
s/s of tethered cords
back pain, weakness, worsening of scoliosis from muscle imbalance, changes to bowel and bladder (often during rapid growth bone legnthens and streches cord, ages 5-9 and adolescence)
Seizure disorders at birth are associated with
myelomeningocele (15%)
generalized, tonic-clonic
new onset seizures = shunt infection or failure
musculoskeletal problems
club feet, hip sublazation and dislocation, knee instability, contractures present at birth,
especially in lumbar/thoracic lesions
osteopenia - scoliosis
need specilaized evacuation plan at school
scoliosis most common in lesions where?
most common in kids with lesions above the second lumbar vertebra
start monitoring for in preschoolers
any progression of scoliosis warrants a neuro eval and imaging to r/o tethered cord, hyrdomyelia or shunt malfunction
Other problems
problems with attention and execution
learning disabilities
altered growth - precocious puberty
latex allergy - multiple surgeries
strabismus in __ % of children with ___&___?
20% with hydrocephalus and myelomeningoele
in utero surgery outcomes
decresed neuro deficits, hydrocephalus & Chiari 2 malformations
doesnt change functions of walking or continence
increased risk fetal mortality
Post natal surgery outcomes
must be done emergently with 24-48 hours to prevent infection
delivery at tertiary care center with neurosurgeon
Hydrocephalus treatments
15% with SB may not need shunting
may delay until need is evident (weeks)
after repair neuro will monior HC and ventricular size by Xray or MRI
SB medications
used to treat symptoms and ass conditions
anticholinergics & antispasmotics - decrease spasticity help with sphincter control and decrease high muscle tone in the bladder
injections and surgeries can be done for sphincter control and incont,
fiber, stool softners and laxitives for constipation
neuro eval
including anal wink, DTRs, movement and sensation of lower extremities
Daily HC, HUS or MRI needed
monitor for irritability
Infants with open fontanel may not be symptomatic of increased ICP, HC crossing percentiles on growth chart, MRI of enlarging ventricles determine need for shunt
genetic counseling provided
Urologic eval
BUN, Creatnine, US to r/o hydronephrosis or renal anomalies
voiding cystourethrography to eval for reflux or if atb prophylaxis is needed
PCP monitoring of shunt
HC, fevers - esp in first 6 months after surgery
10% develop infection in first 6 months
often develop malfunction within 2 years
s/s of shunt malfunctioning or infection
fever, bulging anterior fontanel, apnea, vomiting, change in mental status, worsening b/b function, back pain or worsening scoliosis, head ache, change in function of upper extremities
need school emergency plan for ICP
Loss of sensation means we can miss what?
fractures or scoliosis
no pain signs
families should monitor calcium and vit D intake
Xrays if concern for fracture, observe for swelling or worsening of contractures
Bowel training
encourage early and develop routine to promote eventual independence and self confidence
Goal of continence or regular elimination of stool
Urinary concerns
risk for UTIs and renal tract injury d/t neurogenic bladder, monitor BP - high pressure
CIC, private place at school or vesicostomy
All positive urine cultures in kids who CIC should not be treated unless + fever, abd/back pain, vomiting, or incont between cath times occurs
May also have low pressure- leaking- impaired sphincter control
medications to decrease tone or improve sphincter or surgery are possible
Growth and puberty.. early or late?
precocious puberty common in girls with myelo and hydrocephalus
average start 2 years earlier
affects sexual maturation and linear growth
recomend folic acid to all sexually active females
Foods high in folic acid
rice, pasta, bread, cereals, broccoli, asparagus, nuts, black beans, soy beans, avocadoes, turkey and beef liver
Driving
they can drive with hand modifications
exercise/sports to recommend
aquatic therapy, adaptive skiing, adaptive bikes,
resources
spina bifida association
spina bifida CDC
