2. Introduction
Spina Bifida is a congenital anomaly that arises
from incomplete development of the neural tube.
Spina bifida is a birth defect in which the vertebral
column is open (bifid), often with spinal cord
involvement.
It is commonly used as a nonspecific term
referring to any degree of neural tube closure. It
can be further subdivided into:-
1. Spina bifida Occulta
2. Spina bifida Aperta
Spina bifida literally means “cleft spine”.
3. The human nervous system develops from a
small, specialized plate of cells along the back of
an embryo.
Early in development, the edges of this plate
begin to curl towards each other, creating the
neural tube - a narrow sheath that closes to form
the brain and spinal cord of the embryo. As
development progresses, the top of the tube
becomes the brain and remainder becomes the
spinal cord.
This process usually completes by 28th day of
pregnancy. But, if problem occurs during this
process, the result can be brain disorders or
4. An illustration of an infant with Spina Bifida. Contributed by The Centers for
Disease Control and Prevention (Public Domain)
5. Types of Spina
Bifida
Spina
Bifida
Occulta
Spina Bifida
Aperta
Meningocel
e
Myelomeningocel
e
This is the mildest form.
This is a bony defect
present in spine and not
clinically significant.
Those who have a
lumbo-sacral cutaneous
abnormality(tuft of hair,
dimple, sinus or ‘port
wine’ stain) may have
high incidence of related
underlying defects like
lipoma or dermoid cyst
etc.
These defects may
Cystic CSF filled
cavity-lined with
meninges but
devoid of neural
tissue. The cavity
communicates with
the spinal canal
through the bone
defect(usually
lumbo-sacral.)
The spinal cord and
roots protrude
through the bony
defect and lie within a
cystic cavity, lined
with meninges and/or
skin. In most patients,
the meningeal
covering ruptures and
the spinal cord and
6. Types of spina bifida. Contributed by The Centers for Disease Control and
Prevention (Public Domain)
7. Aetiology
The exact cause of Neural Tube Defects such as spina bifida are
not known but some of the factors have been associated with
Spina Bifida which are:-
1. Maternal nutrition and other factors:- alcohol use, caffeine use,
low folate intake, inadequate dietary intake, elevated glycaemic
index, low serum B12 level, low vitamin C levels, low zinc
levels, smoking, maternal infections and illness, low socio-
economic status, pre-gestational insulin dependent diabetes,
pre-gestational obesity, psychosocial stress have been
associated as potential risk factors for NTDs.
2. Environmental factors:- Ambient air pollution, Nitrate related
compounds, organic solvents, pesticides, polycyclic aromatic
hydrocarbons.
3. Genetics:- Heritability(inheritance) has been associated with
spina bifida. It has been found that there is a 10% greater
chance in 2nd child with spina bifida. Spina bifida has been
8. Epidemiology
The prevalence of NTDs in the USA and many European
countries is estimated at 0.5-0.8/1000 births whereas prevalence
in some regions of China has been reported to be more than 20
times higher. It is estimated that 1,40,000 NTD cases can be seen
per year worldwide.
Within-country differences have been observed between racial
and ethnic groups.
A recent meta-analysis from India reported a prevalence of 4.1
per 1,000 total births, including live and stillbirths(Bhide, Sagoo,
Moorthie, Burton, & Kar, 2013)
In a study conducted by Sangram Singh and Vigya Chourishi on
“To study the epidemiology of spina bifida at our centre in India” it
was found that 1) Incidence is more common in male, 2) Maternal
Fever during first trimester increases the risk of Spina Bifida to
two to three folds, 3)1st and 2nd child are most commonly
affected.
9. Clinical presentations
Spina Bifida
Occulta presents
with:
•Depression or
dimple in the
lower back
•A small patch of
dark hair
•Soft fatty deposits
•Port-wine nevi
(deep red-purple
macular lesions).
Spina Bifida
Meningocele present
s with:
•A Saclike cyst that
protrudes outside the
spine
•Spina Bifida Occulta
and Meningocele
usually do not
present with
neurological deficits;
however, bowel and
bladder incontinence
may be present
depending on the
level of the lesion.
Spine Bifida
Myelomeningocele
produces more severe
impairments:
•Flaccid or spastic
paralysis
•Bladder incontinence
•Musculoskeletal
deformities (scoliosis,
hip dysplasia, hip
dislocation, club foot,
hip/knee contracture)
•Hydrocephalus, alone
with Type I or II Arnold
Chiari malformation
•Trunk hypotonia
•Delayed automatic
postural reactions
10. Diagnosis
1) Before birth
Ultrasound: Foetal ultrasound is the most accurate method to
diagnose spina bifida in your baby before delivery.
Maternal Serum Alpha-FetoProtein (MSAFP) test, a sample of
the mother's blood is drawn and tested for alpha-fetoprotein
(AFP) — a protein produced by the baby. Abnormally high levels
of AFP suggest that the baby has a neural tube defect, such as
spina bifida.
Amniocentesis: During amniocentesis, the doctor uses a needle
to remove a sample of fluid from the amniotic sac that surrounds
the baby.
2) After birth
X-ray, MRI, CT scan can be performed after birth to check the
severity of the lesion.
Meningocele and Myelomeningocele are visible on the
12. Signs and Symptoms
Children with Spina Bifida can have a variety of symptoms which can vary
from mild to severe. The main symptoms include:
Sensory-Motor Symptoms - As the spinal cord and nerves can be
compromised in certain types of Spina Bifida, there are often problems
with muscle control and joint movement. Paralysis of trunk and lower limb
may also be seen in some cases. As the spinal nerves can be damaged
in some forms of Spina Bifida, there may be associated loss of sensation
and feeling in the pelvic region and legs.
Cognitive symptoms - Specifically areas of the brain involved in
memory, learning, as well as concentration, understanding and the
processing of language can be damaged in spina bifida.
Incontinence (Urinary and Bowel) - Most children born with Spina Bifida
will experience some degree of urinary and bowel incontinence.
Orthopaedic Deformities:- Scoliosis, kyphosis, lordosis, hip flexion
deformities, equinovarus(clubfoot), knee flexion/extension contractures, hip
flexion, adduction, and internal rotation, usually leading to a subluxed or
dislocated hip are some of the deformities usually associated with spina
bifida.
13. Osteoporosis:- Because the paralyzed limbs of the child with spina
bifida have increased amounts of unmineralized osteoid tissue, they
are prone to fractures, particularly after periods of immobilization.
Integumentary Impairment:- The presence of paralysis and lack
of sensation on the skin places the child with spina bifida at major
risk for pressure sores and decreased skin integrity.
Growth and nutrition:- Nutritional intake and weight gain and loss
have been found to be problematic in children with
myelomeningocele. Early on, infants with spina bifida may have
feeding issues as a result of an impaired gag reflex, swallowing
difficulties, and a high incidence of aspiration.
14. Occupational Therapy Assessment
Scales
Some of the standardised scales used by occupational
therapists are:
Alberta Infant Motor Scale (AIMS)
Assessment of Motor and Process Skills(AMPS)
Bay Area Functional Performance Evaluation (BaFPE)
Canadian Occupational Performance Measure(COPM)
Denver Developmental Screening Test (DDST)
Functional Independence Measure for Children (WeeFIM)
Home Observation and Measurement of the Environment
(HOME)
Peabody Development Motor Scales (PDMS-2)
Pediatric Evaluation of Disability Inventory (PEDI)
15. Medical management
The mainstay of treatment of NTDs such as spina bifida is actually
prevention. Women of childbearing age should be supplementing their
diet with folate to prevent NTDs.
Spina Bifida Occulta:- There is generally no medical treatment
required
Spina Bifida Meningocele:- Surgery is often performed early after
birth, but the severity of deficits after surgery depends on if there is
neural tissue in the sac. Further treatment is similar to the
management listed below for myelomeningocele.
Spina Bifida Myelomeningocele:
Generally, surgery follows within the first few days of life to close the
spinal cord defect. It is crucial during this time period prior to surgery
to protect the nerves that are exposed in the protruding sac. It is also
important to prevent infection and additional trauma to the exposed
tissues.
Additional surgeries may be required to manage other problems in the
16. The Management of Myelomeningocele Study (MOMS) is a trial
that was done to look at the effectiveness of having fetal surgery to
fix the malformation of the foetus's spine prior to birth in
comparison to waiting until after the child is born to have the
surgery. The idea behind it was that neurological function tends to
decrease as pregnancy progresses, so by performing the surgery
in-utero the baby would not be exposed to such extensive
neurological deficits as it would if the surgery was performed after
birth. However, there is a safety concern for both the mother and
the foetus when this fetal surgery is performed. The success of the
MOMS trial has now made fetal surgery a treatment option in some
cases.
Orthopedic management of the newborn with a myelomeningocele
will generally concentrate on the feet and hips. Soft tissue releases
of the feet may take place during surgery for sac closure. Casting
the feet is also effective in the management of clubfoot deformities.
Short-leg posterior splints (ankle-foot orthoses [AFOs]) may be
used to maintain range and prevent foot deformities.
17.
18. Occupational Therapy
Management
Occupational Therapy management can be understood much
more easily by dividing the plan according to various stages
which are:-
Stage 1- before closure of myelomeningocele (early
newborn period):- Occupational Therapists are called on a
regular basis in large tertiary care centers to carry out
preoperative assessment to help to ascertain functional motor
level. When carrying out the preoperative assessment, great
care must be taken to avoid contaminating an open sac.
Stage 2- After Surgery, during Hospitalization, and
Transition to Home(Newborn through Early Infancy):-
Therapeutic intervention after surgical back closure during
stage 2 is often limited by the infant’s neurological and
orthopedic status.
A major goal during this stage is to prevent contractures and
maintain ROM while giving stimulation to provide as normal an
environment as possible.
19. The prone position is the most advantageous because it
prevents hip flexion contractures and encourages development
of extensor musculature as the child lifts his or her head. Side
lying, which allows the hands to come to midline and generally
encourages symmetrical posture, can be used for alternate
positioning.
A normal sensory experience should be presented to the child
in spite of the hospital setting. Toys of various colours, textures,
and shapes should be available. Stimuli such as squeaky toys
or the human face and voice can be used to encourage visual
and auditory tracking.
In this immediate postsurgical stage, the primary emphasis
should be on attaining good head and trunk control and
eliciting appropriate righting reactions. For example, the child
can be seated on the therapist’s lap, facing the therapist, and
alternately lowered slowly backward and side to side. This
action helps stimulate head righting and strengthen neck and
abdominal muscles. Weight shifting in various positions and
through therapeutic handling is important to enhance
20. Stage 3- Condition Stabilized[Infant to Toddler (Pre-
ambulatory)]:-
In the third stage of rehabilitation, the major emphasis is on
preparing the child mentally and physically for upright standing
and mobility. Goals of preventing contractures and maintaining
ROM will remain throughout the child’s life.
Assuming that the child has previously gained good head and
trunk control, the next step is development of sitting equilibrium
reactions.
As sitting balance improves, fine motor and eye-hand
coordination activities should be introduced. Most children with
spina bifida show decreased fine motor coordination, and this
problem should be addressed as developmentally appropriate.
Early weight bearing is also of utmost importance, both
physiologically and psychologically. The upright position has
beneficial effects on circulation and renal and bladder
functioning as well as on the promotion of bone growth and
density.
Also in this phase of pre-ambulation, transitions from one
21. When the child attempts to pull to a standing position or would
be expected to do so normally (at 10 to 12 months of age), the
use of a standing device is indicated. A standing frame can be
given to achieve the same. Psychologically, weight bearing in an
upright posture allows a normal view of the world and
contributes to more normal perceptual, cognitive, and emotional
growth.
During this pre-ambulatory stage, therapy goals may be
accomplished through a comprehensive home program.
23. References
Neurology and Neurosurgery Illustrated: 5th edition- Kenneth W
Lindsay, Ian Bone, Geraint Fuller
Umphred’s Neurological Rehabilitation: 6th edition- Darcy A.
Umphred, Rolando T. Lazaro, Margaret L. Roller, Gordon U.
Borton
Handbook of Neurological Rehabilitation: 2nd edition- Richard
Greenwood, Michael P. Barnes, Thomas M. McMillan,
Christopher D. Ward
Spina Bifida- Cristina M. Bera; Sunil Munakomi(2020)-
Statpearls[Brea CM, Munakomi S. Spina Bifida. [Updated 2020
Aug 8]. In: StatPearls [Internet]. Treasure Island (FL):
StatPearls Publishing; 2020 Jan-. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK559265/]
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