Neural Tube Defects

Catherine R.Thompson, PT, PhD, MS

 Neural tube defect

• Most common congenital defects

• Important cause of fetal loss
• It is an opening in the spinal cord
or brain which occurs very early in
human development
 Contd…

• The development of spinal cord of

embryo begins as a flat region
which roles into a tube called
neural tube, 28days after
fertilization.
• When the neural tube does not
close completely an NTD develops
 Types

• Open: when the brain or spinal cord are

exposed at birth through a defect in the
skull or vertebrae. eg. Spina bifida with
myelomeningocele, anencephaly &
encephalocele
• Closed: when the spinal defect is
covered by skin. Eg.
Lipomyelomeningocele &
lipomeningocele
 Pathogenesis

• Notochord induces ectodermal cells

over it to form the neural plate on
17th day that gives rise to CNS
• By the day 18, the lateral edges of
neural plate becomes more elevated
& form neural folds & depressed mid
region is called neural groove
 Contd…

• By the end of 3rd week, the neural folds

approach each other & fuse in the
middle, thus converting the neural
plate into a neural tube
• The cranial end of neural tube closes
by 24th day & the caudal by 25-26th day
• Neural tube gets covered dorsally by
mesenchyme forming vertebral arches
& skull
 Contd…

• Defective closure of neural tube in

the anterior region results in
anencephalopathy & encephalocele &
in spina bifida in the posterior region
• NTDs develop during the 3rd to 4th
week of gestation due to a
combination of genetic &
environmental factors
 Genetics of NTDs

• Known environmental factors

include deficiency of folic acid,
maternal insulin dependent
diabetes & maternal use of certain
anti- convulsant
• The chance of having a 2nd child
born with an NTD after the first
child born with an NTD increases
 Contd…

• NTDs are a feature of genetic

syndrome such as trisomy 13,18,
certain chromosomal
rearrangements
• 2 mutations of folate dependent
enzyme 5, 10 are associated with
increased risk for NTD
 Spina Bifida

• It is a set of malformations of the

spinal cord due to lack of closure of
neural tube & lack of fusion of
overlying vertebral arches, soft
tissues, skin that cover the back
• The lesion in most cases occur in
lumbo sacral area but it can be more
extensive to involve the entire spinal
cord
 Spina Bifida Occulta

• Mildest form in which vertebral

arches are absent with no
involvement of spinal cord
• The only visible sign is a dimple in
the skin of that area having a hairy
patch
 Spina Bifida With
Meningocele
• Bulge in the lumbo sacral area
consisting of a meningeal sac
protruding through the bone defect
from the spinal cord & CSF
 Spina Bifida With
Myelomeningocele
• It is the condition if the spinal cord & or
its nerve roots are in the meningeal sac
• The larger the cyst & the number of
neural structure it contains, the more
serious the neurological problems
• There may be partial or complete
paralysis, loss of urinary bladder & bowel
control & the absence of reflexes
 Anencephaly

• Cranial bones fail to develop &

initially the brain protrudes through
the cranial vault (exencephaly) &
some parts remain in contact with
amniotic fluid & degenerate
• Only a small vascular mass of
disorganised neural tissue mixed
with choroid plexuses is left
 Contd…

• The eyes evaginate from the

forebrain
• Damage of the hypothalamus
results in adrenal hypoplasia
• Infants are still born or die within a
few days after birth
 Encephalocele

• It is a protrusion of brain through a

defect of skull, usually in the
occipital area
• The protruding part is often
destroyed due to mechanical
disruption & ischemia
• The intracranial part of the brain
around the defect is malformed
 Diagnosis

• Prenatal test:
1.MS – AFP
2. Acetylcholinestrase presence
3. High resolution ultrasound
4. Fetal karyotyping
 Contd…

• Post natal test:

1.Palpation & X-ray
2.CT Scan
3.Cephalic measurements
4.Blood tests, urine analysis & RFT
 Treatment

• Protruding sac can be closed

surgically, after which assessment
of growth & development should
be continued
• Supportive measures should be
taken to prevent further
complications & to promote
independence
 Prevention

• Supplementation of diet of women

with folic acid
• Leafy vegetables, fortified cereal
products, fruits & other vegetables
are rich source of folate
• RDA for folate equevalance for
pregnant women is 600mcg
 Contd…

• Women of child bearing age should eat a

diet high in folic acid or take a multi –
vitamin with 0.4mg of folic acid each day,
1month prior to conception through the
first 3 months of pregnancy
• Women who have had a previous NTD
pregnancy are recommended to take 4mg
of folic acid 1 month prior to conception
through the first 3 months of pregnancy
 Directions
This PowerPoint presentation should be
used in conjunction with the following
resources:
• The “Neural Tube Defects” handout
• Case Study - Spina Bifida handout
• Chapter 5 in Pediatric Physical Therapy
(Tecklin, 1999)
 Introduction

This presentation offers some illustrations of

key concepts listed on the handouts and
described in the text. Follow this
presentation as you use the additional
resources to gain an appreciation of your
role as a PT working with children and
adults with these types of impairments.
When do neural tube defects occur?
 Neural Tube
Development
Normal embryological
development
Neural plate
development -18th day
Cranial closure 24th
day (upper spine)
Caudal closure 26th
day (lower spine)
 What is Spina Bifida?

A midline defect of the

bone,
skin,
spinal column, &/or
spinal cord.
 Clinical Considerations
Note this chart illustrates WEEKS of gestation (pregnancy).

Does the
mother
generally
know she is
pregnant
when the
neural tube
is
developing?
(See Tecklin,
page 166.)
 Clinical considerations:
At what point could health professionals prevent
the development of neural tube defects?
(See Tecklin, page166.)
Consider the role of the PT in health promotion
and prevention through education.
 Preventive Care

• The United States Public Health Service

recommends that: "All women of
childbearing age in the United States
who are capable of becoming pregnant
should consume 0.4 mg of folic acid per day
for the purpose of reducing their risk of having
a pregnancy affected with spina bifida or other
neural tube defects." Folic acid is a "B" vitamin
that can be found in such foods as: cereals,
broccoli, spinach, corn and others, and also as
a vitamin supplement.
 Clinical Considerations

What factors contribute to neural tube defects?

(See Tecklin, pages 163-164)
 Types of Myelodysplasia*

• Spina bifida occulta

• Lipomeningocele
• Meningocele
• Myelomeningocele = Spina Bifida
*defective development of the spinal cord
 Neurologic pathology
Spina bifida
occulta
(occulta = closed)
A condition
involving
nonfusion of the
halves of the
vertebral arches
without
disturbance of
the underlying
 Neurologic pathology
Lipomeningocele
(lipo = fat)
lipoma or fatty
tumor located
over the
lumbosacral
spine. Associated
with bowel &
bladder Lipomeningocele
dysfunction
 Neurologic pathology

Meningocele (cele = sac)

Fluid-filled sac with meninges involved but neural
tissue unaffected
 Types of Myelodysplasia

Myelomeningocele
or spina bifida:
meninges and spinal
tissue protruding
through a dorsal
defect in the
vertebrae
The spinal defect with
myelomeningocele
 Incidence and Prevalence

• Incidence
– 1/1000
• Prevalence
– Increased incidence in families of Celtic and
Irish heritage (genetic or environmental?)
– Increased incidence in minorities (genetic or
environmental?)
– Increased incidence in families
 Etiology

Neural Tube defects may result from:

• Combination of environmental and
genetic causes
• Teratogens – Remember what these
are?
• Nutritional deficiencies - notably, folic
acid deficiency
 Diagnosis and Detection

Amniocentesis
AFP - indication of abnormal leakage
Blood test
Maternal blood samples of AFP
Ultrasonography
For locating back lesion vs. cranial signs
(See Tecklin, pages 167-168.)
 Prognosis

Spina bifida is a:
static
non-progressive defect
with worsening from secondary problems.
The prognosis for a normal life span is generally
good for a child with good health habits and a
supportive family/caregiver.
 Impairments associated with Spina
Bifida

Physiological changes below the level of the

lesion generally include:
abnormal nerve conduction, resulting in:
somatosensory losses
motor paralysis, including loss of bowel and
bladder control
 Impairments associated with Spina
Bifida
Physiological changes below the level of the lesion
generally include:
abnormal nerve conduction, resulting in:
changes in muscle tone*
*Note: Muscle tone can range from flaccid to normal
to spastic; may have UMN signs with/without true
spastic paraparesis; progression of neurologic
dysfunction or change in neurologic status most
concerning
 Impairments associated with
Spina Bifida
Anatomical changes below the level of
lesion:
 musculoskeletal deformities (scoliosis)
 joint and extremity deformities (joint contractures,
club foot, hip subluxations, diminished growth of
non-weight bearing limbs)
 osteoporosis
 abnormal or damaged nerve tissue
 Impairments associated with
Spina Bifida
Anatomical
changes
associated with a
cervical lesion:
An enlarged head
caused by
hydrocephalus
(“water on the
brain” Hydrocephalus
 Arnold Chiari Malformation

Arnold Chiari type II

Malformation:
 cerebellar hypoplasia
(hypoplasia = reduced
growth)
 with caudal displacement
of the hindbrain through
the foramen magnum
 usually associated with
hydrocephalus
 Health Problems associated with the
Arnold Chiari syndrome

Cranial Nerve Palsies

Visual Deficits
Pressure from the enlarged ventricles
affecting adjacent brain structures
(See Tecklin, page 166, for symptoms
associated with Arnold Chiari syndrome.)
 Health Problems associated with the
Arnold Chiari syndrome
Cognitive and perceptual problems:
Potential for lower intellect
Memory deficits
Distractibility
“Cocktail party personality” (chattering
speech - with limited content)
Visual perceptual deficits
 Health Problems associated with
Arnold Chiari syndrome
Motor dysfunction:
Upper limb incoordination: halting and
deliberate movement instead of smooth
continuous movement
Spasticity: related to upper motor neuron
lesions
 Complications leading to progressive
neurological dysfunction
• Syringobulbia (syringes occurring in
the brainstem)
• Syringomyelia (syringes anywhere in
the spinal cord)
• Bowel and/or Bladder Dysfunction:
potential for neurogenic bowel and/or
bladder (requires clean, intermittent
catheterization on a regularly timed
schedule)
Tubular cavitation • (Refer to Tecklin, pages 209-212.)
called a syrinx
 Other Complications
Hydrocephalus
Hydromyelia
Tethering of the spinal cord: fixation or
tethering of the distal end of the spinal cord
causing intermittent bowstringing of the spinal
cord between the normal cephalic attachment and
the point of tether
Seizures
 Related Problems

Skin Breakdown
Decubitus ulcers and other types of
skin breakdown
Obesity
Latex Allergy
 Medical Management

• Surgical closure of
back lesion 24-48 hrs
after birth with shunt
insertion within 6
months
 Medical Management
• Neurosurgical goals
• Orthopedic goals
• Urologic goals
With the potential of numerous complications in
sight, medical management has a variety of
important goals.
(See Tecklin page 180 for tables listing goals.)
 Physical Therapy
Management
Pre-closure:
– MMT, ROM assessment, therapeutic
positioning for sleeping.
Post-closure:
– MMT, sensory assessment, home program
instruction (PROM exercises, handling and
carrying positions, and therapeutic
positioning for sleeping).
 Newborn
Therapeutic positioning pre- and post-surgery for
repair of myelomeningocele.
Keep an eye out for shunt malfunction.
(See Table 5-1 on page 178 in Tecklin.)
(Refer to Tecklin for details of appropriate handling
& positioning, pages 177-178. Keep in mind the
risk of infection to the back and problems with
pressure on the lesion site.)
 The Young Toddler
Typically seen in a transdisciplinary clinic for
management of multiple and varied medical,
surgical needs, and therapeutic needs.
Transdisciplinary teamwork enhances
communication, prevents delays in care,
coordinates management.
Transdisciplinary team consists of: neurosurgeon,
orthopedist, urologist, PT, OT, nurse, social
worker, and may include others.
Concerns for the Young Toddler

Developmental delay: delayed and

abnormal head and trunk control,
righting, and equilibrium responses
(See Tecklin, pages 180-182.)
Handling/Positioning: The child needs to
develop upright head control in many
positions
 Structural Problems:
Club Foot
• Congenital
deformity with
the following
components:
adductus,
equinus, varus,
and medial
rotation
 Structural Problems:
Club Foot
Equinus: due to combination of a plantar-flexed talus,
posterior ankle capsular contracture and shortening of
the gastrocnemius
Varus: frontal plane parallelism of talus and calcaneus,
contracture of the medial subtalar joint capsules and
contracture of the posterior tibialis
Adductus and Medial rotation: metatarsus
adductus, medial deviation of the neck of the talus, and
medial displacement of the talonavicular joint.
Structural Problems

Low Lumbar Paralysis:

“sloppy knees” from
absent lateral
hamstrings (and active
medial hamstrings and
quads)
Consider the nerves that
innervate these
muscles.
 Orthoses and Equipment typical for
children with SB
• Total contact orthosis • HKAFO
• A-frame (Toronto • rollator walker
standing frame) • floor reaction AFO
• parapodium (Orlau (a.k.a. anti-crouch
swivel walker) orthosis)
• Star Cart • articulating ankle joints
• RGO (new isocentric in S1-level lesions
RGO) • twister cables
 Example of a Parapodium
• Commonly used for
children with high lesions
(T12-L3)
• Offers support to the hips,
knees, and ankles.
• (See Tecklin for additional
descriptions and
illustrations of orthoses
used for various lesion
levels.)
 Activities for the Young
Toddler
Stimulate automatic balance responses against
gravity in all positions to activate responses in
the lower extremities.
Encourage brief periods of well-aligned weight-bearing
throughout the day to stimulate acetabular development
(reducing likelihood for hip dysplasia) and prevent
osteoporosis.
Avoid infant walkers, jumper seats, swings, bouncer
chairs, excessive use of infant car seats.
 The Adolescent
Psychosocial issues:
• dependency on parents or caretakers
• poor personal hygiene from lack of
independence and motivation,
• need for vocational training
• loss of “cure fantasy” during adolescence
 Wheelchair Issues
MY OPINION: I disagree with the statement that
the family should wait until the child is age 5
or 6 to obtain the first wheelchair (p. 181).
Consider the child’s health & quality of life
with and without a wheelchair.
Consult with the family & interdisciplinary team
experts (physicians, Seating Clinic staff, PT
with seating experience,vendors.) before
making wheelchair decisions. Errors are
costly.
 The Adult
Need to focus on health promotion and fitness.
Watch for overuse syndrome, especially in
upper extremities. Also, low back pain.
Monitor for safe and properly fitting equipment
(wheelchair, bathroom devices, supportive &
protective shoes
Model advocacy to improve access to
community-based resources.
 The Adult
Need to change the status quo:
Despite 21st century medicine and treatment
advances, many children with SB never
achieve independence - many never marry,
never live away from parents. There is not
necessarily a correlation between the level
of independence and level of lesion.
 The Challenge
• Look at the case study in your “Neural Tube
Defects” handout. Can you answer the
questions posed for the case presented?
• Contact your instructor for answers to
questions posed in the handout.
 Sample Documentation

• Look at the sample documentation of a

case featuring a child with spina bifida.
Can you relate the content of the
medical chart to the development of a
PT diagnosis and appropriate plan of
care? (Give it a try.)
 Summary

There are several types of neural tube

defects with myelomeningocele (or
spina bifida) being the most commonly
seen by physical therapists.
 Summary

A physical therapist examines the

individual with spina bifida for sensory
and motor deficits as well as perceptual
motor deficits that might result from
brain injury secondary to
hydrocephalus or other neurological
complications.
 Summary
Common health problems that require
monitoring include:
• musculoskeletal deformities
(scoliosis), joint and extremity
deformities (joint contractures, club
foot, hip subluxations, diminished
growth of non-weight bearing limbs),
osteoporosis
 Summary
 Neurological/integumentary
complications: abnormal or
damaged nerve tissue (tethering of
spinal cord with growth),skin
breakdown, decubitus ulcers and
other types of skin problems
 Summary
 Cardiopulmonary problems: risk for
poor cardiovascular fitness
 other health concerns: obesity, latex
allergy
 psychosocial problems: diminished
self-esteem, poor body image, learned
helplessness, potentially limited social
interaction
 Summary

• The role of the PT in the care of an

individual with spina bifida is to
promote functional independence,
prevent complications, and promote
optimal health across the life span.
 Illustrations
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 Illustrations
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