Neural tube defects

INTRODUCTION

 The human nervous system originates from the primitive ectoderm that
also develops into the epidermis.
 T h e ectoderm, endoderm, and mesoderm form the three primary germ

layers that are developed by the 3rd wk.

 T h e endoderm, particularly the notochordal plate and the intraembryonic

mesoderm, induces the overlying ectoderm to develop the neural plate in

the 3rd wk of development
Failure of normal induction is responsible for most of the NTDs, as well
as disorders of prosencephalic development.
 Neural tube defects (NTDs) account for the largest proportion of
congenital anomalies of the CNS and result from failure of the neural tube
to close spontaneously between the 3rd and 4th wk of in utero
development.

 Although the precise cause of NTDs remains unknown.

 Epidemiology
Occurrence of these types of defects is common and varíes by different regions.
The over- all rate 1 in 1,000 births
Various genetic and environmental factors apparently account for the vari-
ability.
 Risk factors

 Family history of NTDs

 Certain syndromes and chromosomal disorders.

 L o w dietary low folic acid

 Administration of sodium valproate and folic acid antagonists, e.g.

some anti-epileptics, trimethoprim

 Hyperthermia
 Malnutrition
 Low Red Cell Folate Levels
 Chemicals, Radiation
Maternal Obesity Or Diabetes
 Genetic Determinants (Mutations In Folate-responsive Or Folate-
dependent Enzyme Pathways)
 CLASSIFICATION OF NTDs

• NTDs are classified as:

1. Open: often involve the entire CNS with neural tissue is
exposed and CSF leaking
2. Closed: localised to the spine; brain rarely affected; neural tissue
not exposed although the skin covering the defect may be
dysplastic
 Cranial NTDs

Anencephaly
Encephalocele
 Meningocele
 Spinal NTDs

 Spina bifida cystica

 Spina bifida occulta

 Myelomeningocele

 Meningocele
Anencephaly 
• is the absence of a major portion of the brain, skull, and scalp that occurs
during embryonic development.
• It is a cephalic disorder that results from a neural tube defect that
occurs when the rostral (head) end of the neural tube fails to close,
usually between the 23rd and 26th day following conception. T
• T h e cerebral hemispheres and cerebellum are usually absent, and
only a residue of the brainstem can be identified.
• Additional anomalies
 Tw o major forms of dysraphism affect the skull, resulting in
protrusion of tissue through a bony midline defect, called cranium
bifidum.
1.Cranial meningocele consists of a CSF-filled meningeal sac only.
2.Cranial encephalocele contains the sac plus cerebral cortex,
cerebellum, or portions of the brainstem.
Cranial meningocele

• The meningocele is part of neural tube defects.

• It is defined as herniation of the meninges through a cranial bone defect. 
• It is characterized by a bone defect by which protrudes an anechoic sac.
Encephalocele 
• It is a sac-like protrusion or projection of the brain and the membranes
that cover it through an opening in the skull.

•  Encephalocele happens when the neural tube does not close completely

during pregnancy. ( A neural tube is a narrow channel that folds and
closes to form the brain and spinal cord)
 SPINA BIFIDA

Is one of the most serious veterbral defect, is the result of imperfect

fusion or nonunioun of the veterbral arches. Such an abnormalty as
cleft veterbral ( spina bifida)


Occulta
•  is often called hidden spina bifida, as the spinal cord and the nerves are
usually normal and there is no opening on the back.
• In this form of spina bifida, there is only a small defect or gap in the
small bones (vertebrae) that make up the spine.
• However, one in 1,000 individuals will have an occult structural finding
that leads to neurological deficits or disabilities as bowel or bladder
dysfunction, back pain, leg weakness or scoliosis.
Meningocele 
• occurs when the bones do not close around the spinal cord and the
meninges are pushed out through the opening, causing a fluid-filled sac
to form.
• The sac is often covered by skin and may require surgery. This is the
rarest type of spina bifida.
Myelomeningocele
•  accounts for about 75% of all spina bifida cases.
• This is the most severe form of the condition in which a portion of the
spinal cord itself protrudes through the back.
• In some cases, sacs are covered with skin, but in other cases, tissue and
nerves may be exposed.
• The extent of neurological disabilities is directly related to the location
and severity of the spinal cord defect.
• If the bottom of the spinal cord is involved, there may be only bowel and
bladder dysfunction. , while the more severe cases can result in total
paralysis of the legs with accompanying bowel and bladder dysfunction.
 Investigations
 MRI: best for imaging neural tissue & identifying contents
of the defect
 CT: direct visualisation of the bony defect and anatomy
 Ultrasound: for prenatal screening
 X- ray
 Prenatal screening
 Failureof closure of the neural tube allows excretion of fetal substances
(α-fetoprotein [AFP], acetylcholinesterase) into the amniotic fluid,
serving as biochemical markers for a NTD.
 Prenatal screening of maternal serum for AFP in the 16th-18th wk of
gestation is an effective method for identifying pregnancies at risk for
fetuses with NTDs in utero
 Management
 Multidisciplinary approach - to address any associated
physical, developmental, hearing,visual and learning
difficulties
 Keep baby warm and the defect covered with a sterile saline
dressing
 Position baby in prone position to avoid pressure on the defect
 Defect should be closed promptly
 Treatment of hydrocephalus
 Complications
 Infections

 Associated motor and sensory problems, particularly lower limb

 Associated learning disability, developmental delay and hearing
impairment
 Bladder and bowel dysfunction
 Prevention

 Pre-conceptional folate supplementation

 F o o d fortification with the addition of folate
 Nursing Diagnosis

 Hypothermia related to disease condition

 Impaired urinary elimination related to neuromuscular defect.
 Bowel incontinence related to neuromuscular involvement
 Disturbed Body Image related to biophysical, psychosocial factor of
child
 Interrupted family process related to situational crisis of long term
condition of child.
 Risk for Infection related to bacterial invasion of the neural tube sac
 Hypothermia related to disease condition
• Monitor temperature pattern every 2 to 4 hours
• Provide radiant warmer or place infant in an incubator (isolette) based on
hypothermia evaluation keeping sac moist postoperatively.
• Educate parents on how to take temperature and notify of any changes
• Educate parents regarding the appropriate amount of clothing and room
temperature suitable for the infant/child.
 Impaired Urinary Elimination related to neuromuscular defect
• Assess urine for color, amount, odor, and turbidity.Cloudy, dark, bloody,
or strange-smelling urine.
• Assess presence of neurogenic bladder, the degree of incontinence,
potential for rehabilitation, age of the child.
• Keep the genital and anal area clean after each elimination episode or as
needed if incontinent.
• Encourage adequate fluid intake of 30 ml/1lb/day including acid-
containing beverages and addition of foods high in acid content in the
diet.
• Apply barrier creams as prescribed to the perianal area during diapering
• Change diapers as quickly as feasible; cleanse perianal area carefully.
• Perform intermittent catheterization every 3 to 4 hours if indicated to
resolve incontinence.
• Encourage parents to use pad and water-proof undergarment instead of
the use of diapers for a child over 3 years of age.
 Bowel Incontinence related to neuromuscular involvement
• Assess presence of neurogenic bowel, the degree of incontinence, the
potential for rehabilitation.
• Perform scheduled rehabilitation program of placing the child on toilet
or potty chair at same times each day.
• Place child on a toilet or potty chair at the same time each day; use
stimulation and suppository if needed.
• Teach parents on correct cleansing and diapering techniques of
infant/toddler.
• Encourage fluid intake of up to 2,000 ml/day depending on age; include
fiber and roughage in the diet.
• Teach parents and child about program for control of bowel incontinence
(fluids, diet, routine toileting, use of stimulation).
 Disturbed Body Image related to biophysical, psychosocial factor of
child
• Assess child for feelings about strengths and weaknesses in performing
ADL, social interaction, effect on self-concept.
• Encourage expression of feelings and concerns and support
communication of the child with parents and peers.
• Encourage parents to sustain support and care for the child.
• Encourage independence and maximize functioning with the use of aids
for dressing, bathing, grooming, eating, mobility, toileting, and
acknowledge on attempts at self-care activities.
• Advise parents to maintain consistent behavior rules for the child as
other children in the family and to integrate care and activities into the
family routine.
• Notice any positive achievement and avoid mentioning negative
comment.
• Provide touching and hugging, age-appropriate activities with other
children.
• Encourage and teach in the use of assistive aids for ADL.
 Interrupted family process related to situational crisis of long-term
condition of child
• Assess anxiety level of family and child, perception of crisis situation,
coping and problem-solving methods used and effectiveness.
• Encourage family members to vent feelings and reaction to appearance
and condition of infant/child.
• Encourage expression of feelings and provide accurate, honest
information about care with or without surgical repair, abilities, and
disabilities.
• Reinforce positive coping behaviors.
• Explain causes, treatment, and prognosis of condition; inform parents
that they are not at fault for development of the congenital defect.
• Inform need for follow-up appointments with physician and therapists.
 Risk for infection related to bacterial invasion of neural sac.
• Assess neural tube sac for breaks or leakage of CSF, irritation of sac,
redness, swelling, purulent drainage at or around sac area.
• Do hand washing before or after procedures involving the site and
maintain sterile technique when caring for the client.
• Use sterile saline or antibiotic solution as prescribed to make sure a
moist sterile dressing is applied over the sac.
• Reinforce moist dressing with dry sterile dressing and change as needed;
Remove moist dressing after it has dried to avoid damage to sac.
• Apply shield over the sac dressing and tape a plastic sheet below the
defect; following surgical closure on the defect, apply a transparent
occlusive dressing over the area below the sac site.
• Teach parents to cleanse the sac gently with moist cotton balls if soiled,
avoid diapering the infant until after surgery and healing has taken place.
• Following surgical repair of the defect, observe any changes in wound
including redness, swelling, warmth, drainage, fever.
• Following surgery, cleanse wound with antiseptic as ordered and change
dressings when needed using sterile technique for at least 24 hours.
• Maintain the infant in a prone position or side-lying, as permitted, with
head lower than buttocks or hips slightly flexed with a pad between the
knees; anchor position with sandbags.
• Administer antibiotics as ordered.
• Teach parents about signs and symptoms of infection on the surgical site,
and notfiy health care provider accordingly.
• Stress the importance of handwashing, dressing change, use of clean or
sterile linens, gloves, supplies when caring for sac area.