Neural Tube Defects

Post op?

-child placed in flat position to prevent rapid CSF drainage as shunts begins working -HOB elevated gradually over day or two -take VS, assess neuro stats q 2-4 hours

Pre-op?

-position infant carefully, do not stretch or strain neck muscles because they support the large head -reduce risk of skin breakdown w/ pressure-reducing mattress or placing sheepskin under head -infant prone to vomiting so frequent small feedings and burping benefical

Incidence of anecephaly?

3:10,000 incidences in the U.S. each year (1,206 pregnancies).Hispanic mothers are at increased risk for unknown reasons. Diagnosis: Ultrasound or at birth No known cure or treatment; most babies die shortly after birth.

Diagnosis?

AFP, Acetylcholinesterase in amniotic fluid, fetal ultrasound

Other sypmtoms?

Abnormal feet or legs, such as clubfoot Hydrocephalus Hair at the back part of the pelvis Dimpling of the sacral area

What is AFP?

Alpha-fetoprotein is a simple blood test usually part of a triple or quad screen along with the following tests: HCG Estriol Inhibin A Routine screening during 14th & 22nd week of pregnancy (most accurate 16-18th) An abnormal finding doesn't necessarily mean the child will have a birth defect; but does indicate more testing is needed. BLOOD DRAWN

What is anecephaly?

Anencephaly is where the brain does not develop above the brain stem (absence of brain/skull) Factors affecting the risk Lack of Folic Acid 28% decrease in neural tube defects since the US began fortifying grains with folic acid.

Bowel evacuation?

BM q1-2 hours to avoid impaction; dietary fiber, stool softeners, glycerin suppositories to promote bm

CSF?

Balance between production & absorption of CSF is very important CSF is made continuously Primary function of CSF: cushion the brain within the skull and serve as a shock absorber for the central nervous system, CSF also circulates nutrients and chemicals filtered from the blood and removes waste products from the brain Continuous flow between cranium & spine to provide equilibrium/compensate for changes in intracranial blood volume.

Patho?

CSF is produced at about 500ml per day and absorbed at the same rate; when the amount of CSF absorbed is less than the amount produced the ventricles enlarge

Normal pressure hydrocephalus?

Can happen to people at any age Most common in the elderly May result from a subarachnoid hemorrhage, head trauma, infection, trauma, or complications from surgery Can also develop from unknown reasons Symptoms: problems walking, impaired bladder control, progressive mental impairment, dementia, "feet get stuck"

Communicating or Non-communicating

Communicating: CSF flows freely between the ventricles, normal channels and pathways, but absorption in subarachnoid space and arachnoid villi is impaired. Non-communicating: More common, resulting from a blockage in the ventricular system tat prevents CSF from entering the subarachnoid space.

Team approach?

Crucial periods of time: Immediate after birth 1st year of life Preschool School transitions: Kindergarten, Middle School, High School Puberty Transition to Adulthood

Shunts?

Diverts flow of CSF from the CNS to another area of the body where it can be reabsorbed as part of the normal circulatory process VP Shunt (ventriculo-peritoneal shunt) done in 85-90% or VA Shunt (ventriculo-atrial)

Symptoms?

Excess fluid in the brain Complete loss of strength in the arms and legs Unusually small head Uncoordinated use of muscles Developmental delays Intellectual disability Vision problems Delayed growth Seizures

Prevention?

Folic Acid before and during pregnancy

Complications?

Frequent UTI, hydrocephalus, loss of bladder/bowel control, meningitis, permanent weakness or paralysis of legs.

-Assessment?

Head circumference, palpation of reservoir, look for signs of complications Shunts consist of 4 parts: ventricle catheter, a pumping chamber/reservoir, one-way pressure valve and distal catheter. 1/3rd will need revision or lengthening, up to 4 times by the age of 10.

Dx of spina bifida?

High maternal alpha-fetoprotein level and a high resolution ultrasound

Hydrophepalus?

Hydrocephalus is the body's response to an imbalance between the production and absorption of cerebrospinal fluid leading to an increase in the CSF volume and widening of the ventricles Occurring in 90% of children with a lumbar myelomeningocele.

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

What is neurogenic bowel?

Involvement of the colon, rectum and internal anal sphincter. Signs of neurogenic bowel include loss of bowel control (bowel incontinence), constipation, bowel frequency and lack of bowel movements. Treatment: Bowel Training Program

Education?

New technology has programmable shunts that allow for adjustments of pressure. They are sensitive to magnets. It is important to educate family regarding this fact - shunts need to be checked and may need to be reprogrammed after such procedures as an MRI. Educate family on signs and symptoms of shunt complications

Treatment?

Obstruction removal or creation of new pathways often include placement of shunt--placed into ventricle and passes the CSF to peritoneal cavity, right atrium of heart or pleural spaces of lungs

Causes?

Polygenic Inheritance, Environmental Influences, Folic Acid deficiency

Polygenic gene??

Polygenic inheritance occurs when one characteristic is controlled by two or more genes. Examples of human polygenic inheritance are height, skin color, eye color and weight Polygenic traits and diseases are due to the cumulative effect of multiple genes, working together. Many congenital birth defects are thought to be multifactorial, such as pyloric stenosis (narrowing of the passage from stomach to intestine), cleft lip and palate, clubfoot, and neural tube defects. Multiple Factors of NTD: Polygenic Inheritance, Environmental Influences, Folic Acid

Diagnostics...?

Prenatal screening Triple Screen during 2nd trimester Elevated AFP Physical exam at birth High resolution fetal Ultrasound lead to diagnosis

Nursing care?

Risk of Infection, Mobility, Caregiver Role Strain, Delayed Growth & Development, Risk for Injury

Tx of spina bifida?

Surgery, Physical Therapy, Nutritionist, Urology, Orthopedics.

Displacement can cause sudden death, respiratory distress, swallowing difficulties and need for assisted ventilation

Symptoms begin during infancy and include stridor, a weak cry and apnea. Older children may have extremity weakness, difficulty swallowing, choking, hoarseness, vocal cord paralysis and breath-holding episodes.

Diagnostic for hydrocephalus

Ultrasound, Brain scans (CT and/or MRI), Spinal tab or lumbar catheter, Intracranial pressure monitoring, Neuropsychological tests

Treatments?

What options are available prenatally? Genetic counseling, therapeutic abortion What will the infant need before surgery? Specialized care, positioning, protective devices. Involves changes in methods of handling, feeding and bathing of child. Why use Antibiotics? Treat or prevent infections like UTI / meningitis Lifelong Treatment r/t damage to the spinal cord/nerves: catheterization, bowel training, OT, PT, Speech, other interventions based on neurological losses.

Shunt malfunction?

are often related to Increased Intracranial Pressure Infant (<1) irritability, bulging fontanel, increasing head circumference, vomiting, poor appetite, disordered sleep and fever Older children may have headache, N/V and decreased LOC

Mechanical complications?

blockage, kinks

Encephalocele?

brain outside skull. 1:12,200 babies approximately 340 born in the U.S. each year Prevention: Folic Acid

Overdraining?

can cause ventricles to collapse or hemorrhage

Lumbar 3 level

can flex hips and extend knees; paralyzed ankles and toes

Lumbar 4-5 level

can flex hips and extend knees; weak or absent ankle extension, toe flexion, and hip extension

What is neurogenic bladder?

caused by interrupted nerve supply from myelomeningocele or spinal cord trauma. If you have neurogenic bladder, signs may include loss of bladder control (urinary incontinence), inability to empty the bladder, urinary frequency and urinary tract infections. Treatment: intermittent catheterization

Signs of infection?

changes in responsiveness, unusual irritability, low grade fever, diminished appetite, sleep pattern disturbances

Meningocele?

cyts filled w/ fluid; protrusion of meningeal sac filled w/ CSF thru verterbral defect, associated w/ no abnormalities of spinal cord

What are neural tube defects?

defects of the brain & spinal cord

Chiari II malformation there is progressive hydrocephalus.

downward placement of medulla and lower cerebeullum through the foramen magnum of skull into cervical vertebrae

Spina bifida?

failure of spinal cord to close 1500 infants are born with Spina bifida each year in the U.S. Folic Acid supplementation has decreased the incidences by 31%. Clinical Manifestations: The higher the defect, the greater neurologic dysfunction.

Important to know when pregnant & for women >35 years

family hx of birth defects, harmful meds, diabetes AFP can also be tested in adults to help diagnose and monitor liver cancer, cirrhosis, and hepatitis and detect several cancers: testes, ovaries, biliary tract, stomach, and pancreas.

Acetylcholinesterase?

found in amniotic fluid; An enzyme that breaks down the neurotransmitter acetylcholine at the synaptic cleft and stops the signal between a nerve cell and a muscle cell.

Ventriculoperitoneal shunt?

four parts: ventricular catheter, pumping chamber reservior, a one way pressure valve and distal catheter; shunts usually place 3-4 months age

Causes?

intraventricular hemorrhage in preterm newborn, meningitis, traumatic brain injury and tumors.

Prognosis?

length of life not severely affected, neurological damage irreversible, changes in spinal cord can develop across the lifespan r/t growth (especially during puberty) leading to further functional deficits.

Cause of anecephaly?

maternal polyhydraminos?

Sacral level

mild weakness in ankles and toes

Myelomeningocele?

most common type of spina bifida; aka myelodysplasia Symptoms: A newborn may have a sac sticking out of the mid to lower back. Loss of bladder or bowel control Partial or complete lack of sensation Partial or complete paralysis of the legs Weakness of the hips, legs, or feet of a newborn

Infection?

most serious complication - occurs most often within 6 months of placement (meningitis, peritonitis, obstruction, wound infection) Over-draining (can cause ventricles to collapse or cause hemorrhage)

Nerve involvement?

not always symmetrical; spastic/flaccid muscle tone, weakness, decreased sensation

Thoracic levels

paralysis of legs, weakness and sensory loss in the trunk and lower body region

Clean intermittent catheter?

performed q 3-4 hours to maintain bladder function and promote urinary continence

Postop?

place in prone or side-lying position for sleep until heeling has occurred

Preop?

place newborn in prone position w/ hips slightly flexed and legs abducted to minimize tension on sac

Myelodysplasia?

refers to malformation of spinal cord and spinal canal

Lumbar 1-2 level

some hip flexion and adduction, cannot extend knees

Tx?

surgery to close and repair lesions usually occurs w/in 24-48 hours of infants birth to reduce infection

Prenatal options?

termination, C-section delivery, fetal surgery

Prognosis??

with treatment, length of life is not severely affected; neurological damage however is often irreversible New problems within the spinal cord can develop later in life This can lead to more loss of function such as scoliosis, foot or ankle problems, dislocated hips, joint tightness or contractures

What produces AFP?

yolk sac and liver of unborn fetus;