Lecture 21: Spina bifida

Question 1

Spina Bifida - folic acid to prevent
* Neural tube defect (doesnt close at 6 weeks)
* First month after conception-about 28 days gestation (because those first 2 weeks dont really count)
* Defect of variable severity in developing SC
* Umbrella term that includes different types of SC defects
* Occur anywhere along the spine
* Severity depends on size and lcoation of opening in spine and if spinal cord and nerves are ffected - can be so minor nody knows

Myelodysplasia is an alternate umbrella term: - any anomilie of SC or cranium
* anomalies of the SC
* Abnormaltities of the spinal column or cranium
* Arise as a result of an embryonic developmental failure

Question 2

Spina Bifida Aperta (Cystica)
* Exposed neural tissue visible at birth
* May or may not have a protruding sac at side of lesion

Myelomeningocele:- spinal cord comes out of spinal canal into a sac
* Spinal cord protrudes from spinal canal into a sac
* Defect in lumbosacral area in 85% of cases
* paralysis and loss of sensation below level of defect
* may be boney abnoramlities

notice the boney abrnoamlity below

NOTE: spina bifida is not as clean cut as most. may have some weird sensation below in no real pattern

makes sense why you dont have sensation below this level

Question 3

Anencephaly = w/o brain (an = w/o) - typically what they have left isnt even brain tissue
* Lethal condition
* Vault of skull usually missing
* Exposed mass of undifferentiated vascular and dyplastic neural tissue

Encephalocele: - instead of having SC coming out its brain coming out of skull (i think)
* most often lethal condition
* Protrustion of brain tissue in a sac typically in occipital area of skull

Question 4

Different kinds of spina bifida

Spina bifida occulta = only have a tuft of hair ontop of skin
* dont typically find unless you’re having an MRI for something else
* sometimes will have a sacarl demple

Meningocele - things are coming out when they shouldnt

Myelomeningocele - its tottaly open

Question 5

Spina Bifida Occulta or closed neural tube defect
* Non fusion of vertebral arches
* Incidence: 4.5% of general population
* 21-25% of parents of children with spina bifida (so is genetic)

Question 6

Closed NTD with Subcutaneous MAss (so they can have a subQ mass)

Lipomyelomeningocele
* fatty subcutaneous mass that passes through the open bifid vertebrae and attaches to the spinal cord
* Varying degrees of lower extremity paralysis, decreased sensation and neurogenic bowel and bladder
* Seldon assocated w/ chiari 2 malformation or hydrocephalus

Meningocele - much less severe
* Skin covered sac filled with cerebral spinal fluid that herniates through vertenral defect with meninges (but the actual spinal cord doesnt and the sac isnt actually open)
* Most often in lumbar or sacral area
* Neurological exam in neonate suually normal
* Neurologic problems may develop with growth
* Hydrocephalus may be associated
* Rarely chiari 2 malformation

Question 7

Spina bifida - can often see in utero and actually fix while still inside mom
* if they cannot fix it in utero than they don’t want a vaginal birth = more infection (because its litteraly open area that leads to ur brain)

Genetric issues with chromosomes 13,18,21

Teratogens - things that are toxic to the baby
* Excess maternal alc
* Ingestion of drugs valporic acid
* Maternal pre-gestational insulin dependent diabtes
* Maternal pre-gestation obesity

Can be caused by nutritional deficiences (folic acid)

1-10 per 1000 live births worldwide and .2 per 1000 births in USA (becuse we have more folic acid)

Decline in the incidence: increased prenatal screening, improved nutrition for pregant women and folic acid supplementation

Genetic: elevation Irish and Celtic

Low among japanese

Families with 1 child with spina bifida are 3 times more likely to have a second w/ this disorder

Question 8

Diagnostic infant at birth presence of sac or skin lesion
* Muscle weakness or paralysis below lesion; decreased DTRs
* Sensory impairment below lesion
* Possibility of musculoskeletal deformitties from lack of movement in uteri
* Hip dislocation (unilateral or bilateral)
* Foot deformitites (club foot most common)
* Kyphosis, scoliosis (present in 15-25% of newborns)
* Urinary/bowel dysfunction - if lesion above this lvl

Question 9

dont need to really know all these for spina bifida - basically if they see anything in the brain / SC on the ultra sound they’re going to look more into it

Cranial Ultrasonographic findings:
* Lemon sign: Overlapping of the frontal bones
* Small cerebellum: Transcerebellar diameter <10 percentile
* Effacement of the cisterna magna: width <2 mm on axial scan of posterior fossa
* Banana sign: small cerebellum hemispheres curling anteiorly and obliteration of the cisterna magna as a result of downward displacement of the hindbrain structures
* Ventriculomegaly: Atrial width: severe > 14mm, borderline: >10 mm
* Funneling of the posterior fossa (Clivus supra occiput angle <72 degrees)

Question 10

Diagnostic testing for spina bifida
* Prenatal screening during pregancy
* Amniocentesis: Measure for elevated alpha fetoprotein level in the amniotic fluid
* Elevated alpha fetoprotein detect about 89% of neural tube defects
* False negatives and positives
* Prenatal ultrasound of the fetus at 18-20 weeks gestation
* Cranal ultrasongraphy, electromyography, magnetic resonace imaging (MRI)

Question 11

Prognosis and Sequelae for spina bifida:
* Non progressive following surgical repair - however, we go so it can look like progressive symptoms - fatality = first few weeks or older adult
* Muscukosekeltal deformity, hydrocephalus, potential tethered cord syndrome and other potential secondary problems can cause neurlogical compromise
* Hydrocephalus and arnold chiari 2 malformation: global neurlogic problems (low muscle tone, mild fine motor delays and charcertistic learning disabilities)
* 75% of children with MMC live into their early adult years)
* 85% will attend or gradulate from HS and/or college - so most are very fucntional
* 90% survivial with agrresive tx - close them
* quality of life not signfiicalty impacted - can still function and do what they need to do

Question 12

Medical / surgical management - we dont do this
* Intravesical botox injevtions
* clean intermittent catheterization and anticholinergic medications for neurogenic bladder - going to have bowel and bladder schedule if they cant go on their own
* seizure medications
* medications for constipation
* neonatal surgery to clsoe nueral tube within 24-48 hours of birth

In utero surgical repair of defect in fetus 20-25 weeks
* significant reverseal of hindbrain herniation
* decreased need for shunting
* improvement in LE function
* decreased physical and chemical damage of exposed neurological tissue of open lesion

Question 13

will likely have a plathera of providers

Question 14

check skin

need to be on bowel / bladder shcedule - we dont actually do the management

Prevent msk deofmirty = wolfs law

TESTspina bifida = latex allergies = because they’re sposed to it so often = becomes an allergy same thing w/ CP i think

Question 15

devices vary depending on level of injury

most energy efficent but needs to be able to do what they need it to do

Question 16

Question 17

for when you’re writing these goals

we want indpedence in mobility - we want 1 of our goals to be some kind of functional mobility goal
* even if its C5, make it some kind of bicep flexion or above - maybe indpeendent w/ power mobility etc… - use this for project

Question 18

say something like “have you had any hospitilizations” that will make these come out quickly

Question 19

obviously depends on the level of injury

Question 20

can have deofmrities because they’vehad fx’ over sitting’ msk imbalance, position in utero
* typical below

Question 21

because their muscles arent working right

Question 22

spinal fushions to stop those spinal defomrities (muscles not holding them up)

Question 23

People w/ spina bifida commonly have osteoporosis
* due to limited wt bearing (wolfs law)

11-30% in children have fx

limited wt bearing

Question 24

proper sitting position is really important - goal = avoid excessive ROM in shoulders

Question 25

want to be symmetrical in sitting - don't want to be leaning to one side slight lordosis is normal (feel ur back) Dump = tilting seet back = more secure in chair - dont have to work as hard at trunk

Question 26

Internation Myelodysplasia study group = behind pay wall. Use ASIA scale

Question 27

Neuromuscular inolvement of Spina bifida (she keeps calling it myelomemeingeocyle) - so these 3 things can happen Lesions resembling complete cord transection * Manigest as normal function down to a particular level: flaccid paralysis, loss of sensation, absent reflexes below (like a complete) Incomplete lesions * mixed manigestation of spasticity and volitional control Skip lesions * more caudal segments are fucntioning despite the presence of one or more cephalic spinal segments * so this is the weird one * this would be lesion at T8 and t9-10 working then below that not working - some function is still there so impairment is skipped * motor and sensory arent always attached either. Might have motor at one level and not sensory or vice versa

Question 28

Sensory deficits w/ spina bifida * not clear cut * sensory levels often do not correlate with motor levels * Skip areas that lack sensation * Proprioception and kinesthetic sense may be impaired

Question 29

things to do if they dont have sensation dont want them barefoot footwear should be measured often to make sure its not too tight

Question 30

tx for spina bifida

Question 31

Arnold-Chiari of Chiari 2 malformation: - basically brainstem comes through forament magnum - does pull through until they're actually bigger - CSF builds up and causes pressure - typically say things like "just dont feel, good, or HA" typically not loads of s/s until it gets bad (think tingling etc...) * impairments of SC and brain * Congenital brain malformation * Brainstem displaced inferiorly beyond the foramen magnum * Partial blockage of passage of cerebrospinal fluid from brain to SC * CSF builds up in ventricles * Pressure on CNS tissue * Compromise brain tissue and development * Hydromyelia-increased pressure of the CSF over the SC * Weakness in upper extremity muscles particularly the hands

Question 32

Hydrocephalus * Too much CSF in the brain thats not being reabosrbed 50-90% of infants with spina bifida have hydrocephalus * only 10% need a shunt (brain to belly) - best way to contorl it

Question 33

Hydrocephalus: * Excessive accumulation of fluid dilating cerebral ventricles after primary spinal site is closed * Controlled via palcement of ventricular peritoneal shunt * Plastic catheter excess CSF from ventricles into peritoneal cavity * **Shunt malfunction: shunt clogged, shift, or dysfunctional - can cause death** (test) * Common cause of death if unrecognized

Question 34

**TEST**: What are the signs of a shunt malfunction? (4)

Answer 34

1) HA 2) irritability 3) Fever unreleated to illness 4) nausea we care only if they actaully have the shunt in medical emergency

Question 35

Tethered SC - as they grow it kind gets worse * As child grows and develops it gets worse * Development of adhesions or bony spurs at lesion closure site * Do not allow the SC to slide normally down * Excessive strtech to SC can cause metabolic changes and ischemia of neural tissue with degeneration of muscle function

Question 36

Signs of Tethering of SC * Change in sensation or continence * Inability to perform or difficulty performing tasks that the child was previously capable of performing * Spasticity in muscles w/ sacral nerve roots * Development of scoliosis at a young age * Reduced activity level tolerance * Changes in muscle tone and further paralysis of previously innervated muscles

Question 37

bowel / bladder problems w/ spina bifiida will have kidney problems if they dont empty bladder socially exceptabile contence = dont have accidents in public (dont have emergencies)

Question 38

Intellectual and Visual Perceptual Deficits * May occur in children w/ spina bifida * Higher in children w/ hydrocephalus - because they have pressure on the brain * Majority of children w/o hydrocephalus or with uncomplicated hydrocephalus will have normal intelligence * Higher intelligence score in lumbar and sacral lesion groups versus thorcic (because its lower) * normal distribution curve of average IQ but shifted to the left about 20 point lower IQ - so have lower IQ

Question 39

Question 40

10-30% of children w/ spina bifida have experienced seizure activity (associated w/ brain malformation) * CSF shunt malfunction or infection * Residual brain damage from shunt infection

Question 41

Question 42

People w/ Spina bifida have latex allergies * More prevenlt in children w/ myelodysplasia than other mediatric neurlogical disorders (think thats the same as spina bifida) Things that are of significant concern: - know the longer explosed = higher chance of anaphylaxis - more exposed to latex more chance of latex allergy * Balls * Wheelchair seat and tires * Braces * balloons * Gloves * Toys * Anaphylaxis: life threatning * PT's should educate families to avoid exposure to latex products

Question 43

Potentnial for ambulation Thoracic and high lumbar level lesions might start walking: <20% still walking by age 9 (got heavier) Mid lumbar level lesions: 40-70% are still walking at 9 Sacral lesions: typically reach and maintain functional ambulation w/ assistive devices and/or orthortics Lesions below L3 more likely to have IQs over 80, walk, be indepndent drive and be employed * if you're below L3 and IQ above 80 = be able to walk and be employed (remember 85-115 = typical IQ)

Question 44

if you have parents / child that want to have the child walk = better chance of ambulation

Question 45

UMN mostly LMNs signs w/ spina bifida w/ some scattered UMN. This is due to if its a complete lesion they are going to exhibit nothing (just like LMN), however, if its partial or theres like skips theres some UMN (would be my guess)

Question 46

Prognosis and recovery for neuromuscular in general Skill training induces synaptogenesis (building new synapses) - so strengthen the existing ones by actually trying to do that typical movement pattern * Formation of new synapses and sprouting of new axons terminal * Strengthening of existing synapses * Reorganization of movement representations with the motor cortex (cortical remapping) **Endurance training induces angiogensis** - think like an arm bike etc... if they cant ambulate * Formation of new blood vessels in the motor cortex Strength training alters spinal motorneuron excitability * Induces synaptogensis within the SC w/o altering motor map organization

Question 47

same neurplasticity rules apply for those w/ neuroplasticity

Question 48

task specific motor training = gold standard maybe change the environment so they have to do the activities you want them to do

Answer 48

dont just focus on imapirments