Spina Bifida Flashcards
Spina -
of the spine
Bifida –
split
Spina Bifida =
type of neural tube defect that occurs when one or more vertebrae fail to fuse at approximately 28 days of gestation, leaving the spinal cord unprotected in utero
Prevalence =
0.4 to 0.9 per 1000 births
Higher prevalence in Hispanics and Caucasians compared to African Americans and Asians
90-95% have no family history of Spina Bifida
Neural Tube Development and Spina Bifida:
By day 18-20 of gestation, the ectoderm (outer embryonic layer) thickens to form the neural plate, which will become the CNS
neural plate folds to form a groove, and the sides (neural folds) rise to close this groove into a tube, the neural tube
process of neural tube closure starts in the middle of the embryo and proceeds both toward the head (cranial end) and tail (caudal end), completing by day 28
Neural Tube Defect Leading to Spina Bifida:
occurs when the caudal end of the neural tube (the part that forms the spinal cord and vertebrae) fails to close properly by day 28
incomplete closure leads to the spinal cord and surrounding structures (bones, skin, etc.) being improperly formed or exposed, resulting in a range of physical and neurological impairments
Open spinal dysraphism (OSD) –
Meninges and/or nerve tissue are exposed to the external environment
due to a lack of skin or membrane covering
Most prevalent
generally more severe forms of neural tube defects
Closed spinal dysraphism (CSD) –
defect in the vertebrae or neural tube is covered by skin, and neural tissue is not exposed
Mildest form of the condition - may still cause significant functional impairments
Open Dysraphism (Open Neural Tube Defects) Examples:
Myelomeningocele
Anencephaly
Encephalocele
Closed Dysraphism (Closed Neural Tube Defects) Examples:
Spina Bifida Occulta
Lipomyelomeningocele
Tethered Cord Syndrome
Prenatal Diagnosis:
13-15 weeks: Blood Lab – Alpha-fetoprotein (AFP), 80% reliable
16-24 weeks: Fetal Ultrasound, >90% reliable
16-18 weeks: Amniocentesis, ~100% accurate
Complexity:
Complications can range from minor to severe physical and mental disabilities
The higher the malformation occurs on the back, the greater the amount of nerve damage and loss of muscle function and sensation
___ most common
L5-S1
Impact determined by:
Size/Location of malformation
Open vs closed
Which spinal nerves are involved
Causes and Risk Factors:
Exact cause is still an unknown
Genetic
Nutritional
Environmental
Folic acid
Genetic Factors:
most cases of spina bifida occur in families with no history of the condition
a family history of neural tube defects slightly increases the risk
genetic mutations or variations may affect the body’s ability to process folic acid
genes involved in the folate metabolism pathway, such as the MTHFR gene, have been linked to an increased risk
Nutritional Factors:
Folic Acid Deficiency
* essential for the proper closure of the neural tube
Women who do not get enough folic acid before and during the first trimester have a significantly higher risk of having a child with spina bifida or other NTDs
Malnutrition or deficiencies in other essential vitamins and minerals
Environmental Factors:
Some medications taken during pregnancy, especially anti-seizure drugs like valproic acid and carbamazepine
diabetes, obesity, and hyperthermia (exposure to high body temperatures, such as from fever or hot tub use during early pregnancy)
environmental toxins, such as alcohol, smoking, or certain chemicals
Older maternal age (above 35)
Folic acid =
(vitamin B9), when taken by the mother prenatally reduces the risk of neural tube defects by up to 70%
plays a key role in DNA synthesis and cell division
FDA/CDC Recommendation –
all women of childbearing age ingest 0.4 mg (400 µg) of folic acid every day
Dietary sources include dark leafy greens, whole grains, and legumes
Neuromuscular, Sensory and Motor Deficits:
Loss of sensation
Loss of muscle strength and control
Loss of bowel/bladder control
Muscle contractures
Skeletal Impairments:
Foot abnormalities (eg, club foot)
Shorter legs
Decreased bone density
Scoliosis
Hip subluxation and dislocation
Other Possible Complications:
Hydrocephalus
Arnold Chiari Malformation
Seizures
Cognitive impairments
Tethered Cord
Bowel/bladder complications
Latex allergy
Hydrocephalus =
Caused by a disturbance of formation, flow or absorption of cerebrospinal fluid
Approximately 25% at birth, which increases up to 90% who will require a ventriculoperitoneal (VP) shunt
Hydrocephalus Signs & Symptoms:
Headaches
Nausea
Lethargy
Vision problems
Hoarse cry
Swallow issues
Changes in speech
Seizures
Arnold-Chiari Malformation Type II:
Portion of the brain stem descends into the cervical spine.
structural abnormalities at the junction of the brain and spinal cord
particularly affecting the cerebellum and brainstem
strongly associated with myelomeningocele
Arnold-Chiari Malformation Type II Signs & Symptoms:
Changes in breathing pattern
Swallowing problems (e.g., gagging)
Ocular muscle palsies
Weakness/spasticity in arms
Bradycardia
Club Foot:
congenital talipes equinovarus
20-50% of infants with spina bifida
causes the foot to be twisted inward and downward, making it appear as if the person is walking on the side or top of their foot
can occur in one or both feet and ranges from mild to severe
Key Features of Clubfoot:
Equinus: The foot points downward, like a ballerina pointing the toes.
Varus: The heel is turned inward.
Cavus: The arch of the foot is elevated.
Forefoot Adduction: The front of the foot (forefoot) is turned inward.
Club Foot Many factors:
Muscle imbalance
Contractures
Intrauterine positioning
Spasticity
Club Foot Muscle imbalance =
flexor muscles (which pull the foot downward) may be stronger or tighter than the extensor muscles (which pull the foot upward),
causing the foot to point down and inward
Club Foot Contractures =
tight tendons and ligaments, particularly the Achilles tendon
can prevent the foot from moving into a normal position
pulling it into equinus (pointed downward) and varus (inward-facing) positions
soft tissues can become less elastic, making it difficult to reposition the foot without interventio
Club Foot Intrauterine Positioning =
Oligohydramnios (reduced amniotic fluid) can limit fetal movement, increasing the risk of musculoskeletal deformities
positional clubfoot occurs when the foot is forced into an abnormal position due to lack of space in utero
*more flexible and easier to correct than idiopathic
Club Foot Spasticity =
increased muscle tone and involuntary muscle contractions
can be more challenging to treat because of the ongoing muscle spasticity and abnormal reflexes, often requiring a combination of orthopedic management and spasticity treatments (e.g., botulinum toxin injections or selective dorsal rhizotomy)
Tethered Cord =
20-50% of children with spina bifida and re-tethering occurs for 10-15%
Caused by the spinal cord becoming fastened to part of the vertebral column which results in the spinal cord becoming abnormally stretched with the child’s growth
Tethered Cord Signs and symptoms:
Weakness
Scoliosis
Pain
Orthopedic deformity
Urologic dysfunction
Change in function
Tethered Cord dimple:
potential external signs
at the base of the spine, typically in the lumbosacral region
small indentation in the skin located at the base of the spine (usually above the buttocks)
Tethered Cord “Y” gluteal cleft:
groove between the buttocks
Y” shape may be visible in the lower part of the gluteal cleft due to abnormal skin changes or other indicators like a dimple, patch of hair, or fatty mass
Motor and Sensory Testing:
motor level is determined by the most caudal segment of the spinal cord that has normal function
motor Level determined by which muscle group can be graded at least 3/5 MMT scale
C5
Elbow Flexors
Biceps, brachialis
C6
Wrist extensors
Extensor carpi radialis longus, extensor carpi radialis brevis
C7
Elbow extensors
Triceps
T1
Small finger abductors
Abductor digiti minimi
L2
Hip flexors
Ilipsoas
L3
Knee extensors
Quadriceps
L4
Ankle dorsiflexors
Tibialis anterior
L5
Long toe extensors
Extensor hallucis longus
S1
Ankle plantar flexors
Gastrocnemius, soleus
Common Assessments - ACTIVITY AND PARTICIPATION:
Alberta Infant Motor Scale– Motor function
Pediatric Evaluation of Disability Inventory (PEDI) – goal setting
WeeFIM – validated for use with children with spina bifida
School Function Assessment – Participation in school
Spina Bifida Health-Related Quality of Life
Common Assessments - BODY FUNCTION & STRUCTURE:
Goniometry – Range of motion
Myotomes and Dermatomes
Hand-Held Dynamometry or MMT– Muscle strength
Gait and Movement Analysis – Gait deviations
Motor Development:
First 6 months
Rolling
Sitting
Pull to stand/cruise
First 6 months –
motor development is close to typical (head control and hand use) but less LE movement
Rolling –
Children with thoracic level SB usually roll by 18 months with compensatory strategies, many will progress to crawling
Sitting –
Children with mid-lumbar SB can sit with support with delay and increased lordosis, typical development in L4-L5 lesions
Pull to stand/cruise –
Children with low lumbar lesions, may progress to ambulation with assistive devices with an average onset of age 3
Ambulation Prediction:
Lower motor level - Need good quadriceps strength
No history of shunt - Cognitive function necessary for ambulation
No history of hip or knee contracture surgery
Lower Motor Level:
Good Quadriceps Strength: critical for knee extension and stability during ambulation
If an individual has a lower motor level corresponding to at least L3 (where the quadriceps innervation occurs), and they can achieve at least 3/5 strength, it indicates a good chance for independent ambulation
No History of Shunt:
Cognitive Function: The absence of a shunt often suggests that there may be less risk for hydrocephalus or associated cognitive impairments
Cognitive function is essential for safe ambulation, as it impacts the ability to understand and follow instructions, navigate environments, and react to obstacles or changes in terrain
No History of Hip or Knee Contracture Surgery:
Mobility and Range of Motion: The absence of surgeries for hip or knee contractures is favorable for ambulation
Contractures can limit range of motion and functional mobility
Good joint mobility is crucial for walking mechanics and preventing compensatory patterns that may arise from limited range
Functional Ability by Motor Level & Degree achieving community ambulation: T6-T12
Wheelchair for mobility
Non-functional ambulation and standing
0-33%
Functional Ability by Motor Level & Degree achieving community ambulation: L1-L3
Wheelchair for mobility
Limited household ambulation
~30%
Functional Ability by Motor Level & Degree achieving community ambulation: L3-L4
Household ambulation
Limited community ambulation
Wheelchair for long distances
~30%
Functional Ability by Motor Level & Degree achieving community ambulation: L4-L5
Household and community ambulation
Wheelchair for long distances
38%
Functional Ability by Motor Level & Degree achieving community ambulation: S1-S2
Community ambulation
All
Gait Analysis - Trendelenburg Pattern:
Hip abductor weakness (Motor innervation L4-S1)
Associated with weak hip extensors and plantar flexors
Trunk sways side to side
Knee valgus
Hip Abductor Weakness:
results in an inability to stabilize the pelvis during single-leg stance
affected side will drop during the stance phase of walking
muscles primarily responsible for hip abduction (gluteus medius and minimus) are innervated by the superior gluteal nerve, originating from the lumbar plexus (L4-S1)
Weak Hip Extensors and Plantar Flexors:
Weakness in the hip extensors (gluteus maximus) can lead to decreased stability and propulsion during gait
Weakness in the plantar flexors (gastrocnemius and soleus) affects push-off during the gait cycle
Trunk Sway:
sways side to side to compensate for the drop of the pelvis on the weak side
lateral trunk lean helps to maintain balance and center of mass over the support leg, reducing the demand on the weak hip abductors
Knee Valgus:
(inward angling of the knees) often accompanies a Trendelenburg gait pattern due to compensatory strategies
occur as the individual tries to maintain balance and control over the center of mass, leading to increased stress on the medial structures of the knee and potential risk for further joint issues
Multidisciplinary Approach:
Rehab Medicine
Physical Therapy
Occupational Therapy
Neurosurgery
Orthopedics
Urology
Colorectal/GI
Nurse Clinic Coordinator
Nutritionist
Social Work
Neuropsychology
Medical Management- First Step:
Fetal or Post-natal Surgery
The Management of Myelomeningocele Study (MOMS): Fetal surgery leads to improved mobility and fewer surgeries for shunt placement
Fetal surgery is higher risk to the baby and the mother
Fetal Surgery:
Fetal surgery for myelomeningocele is typically performed between 19 and 25 weeks of gestation and aims to repair the defect before birth
can lead to better motor outcomes in children compared to those who undergo postnatal repair
increased risks for both the mother (including complications from surgery) and the fetus (including premature birth and other complications)
Postnatal Surgery:
typically occurs within the first few days after birth to close the defect in the spinal column
less risky in terms of maternal health compared to fetal surgery and can be performed safely soon after birth
poorer functional outcomes, increased need for additional surgeries, and higher rates of shunt placement for hydrocephalus
Medical Management - Second Step:
Surgery to place shunt
Small hollow tube that drains cerebrospinal fluid from the brain
Additional surgeries are needed as the child outgrows the shunt or it becomes clogged or infected
10-30% have seizure activity – associated with brain malformation or CSF shunt malfunction or infection
Orthopedics - Scoliosis and/or kyphosis:
70% with lesions above L2
Once detected – obtain spine x-ray every 1-2 years, may consider surgery when Cobb angles >40 deg
Surgical options include fusion or growing rods
Orthopedics - Hip subluxation and dislocation:
Fractures 11-30% in children with SB related to osteopenia (most common: distal femur and femoral neck)
SPINA BIFIDA EARLY INTERVENTION:
Monitor joint alignment, muscle imbalance, and development of contractures
Use stretching, orthoses, and positioning splints to maintain alignment
Strengthen trunk and neck with tummy time and prone activities
Determine orthotics for ambulation as soon as they pull to kneel/stand
Power mobility can be introduced around 12 months of age
Partial Body Weight Supported Treadmill Training
Enables parents to provide high repetition and functionally relevant activity
Builds muscle strength and motor control
Improves bone density
Enhancing sensory input led to more steps
Children walked ~2 months sooner
Spina Bifida Guidelines of Care - T6-9
T9-12
L1
possible muscle function:
upper trunk (abdominals), no LE function
abdominals + paraspinals = some pelvic control
complete trunk function
- lower trunk (abdominals)
- hip flexors (weak) 2/5
Spina Bifida Guidelines of Care - T6-9
T9-12
L1
possible orthopaedic concerns:
kyphoscoliosis, lumbar hyperlordosis
coxa valga - hip dislocation
decreased bone density
fractures
contractures
- hip: abduction, flextion, ER
- knee: flexion, extension
- foot: heelcord, clubfoot
Spina Bifida Guidelines of Care - T6-9
T9-12
L1
possible orthotics needed:
TLSO
night splints: body, hip, abduction, KAF, AF
early: parapodium, (10 months of age and up to 2 years)
later: stander, RGO, HKAFO, KAFO
caution: preserve UE function with level transfers, stable seated posture
maintain strength + flexibility of shoulders/arms
Spina Bifida Guidelines of Care - T6-9
T9-12
L1
possible equipment for functional mobility:
community: wheelchair/wheelchair cushion, transfer board
home: walker/crutches, raised and padded commode seat, bath bench, mirror for skin checks
stander: 1 hour/day minimum, starting at 10-12 months of age
driving with hand controls
learn public transportation
Spina Bifida Guidelines of Care - L2
L3
possible muscle function:
hip flexors 3/5
hip adductors 3/5
knee extensors 3/5
Spina Bifida Guidelines of Care - T6-9:
muscle function:
orthopaedic concern:
orthotics needed:
equipment:
function:
Spina Bifida Guidelines of Care - L2
L3
possible orthopaedic concerns:
scoliosis, overuse of UE’s, lumbar hyperlordosis, hip subluxation
coxa valga - hip dislocation
decreased bone density
fractures
contractures:
hip - flexion
knee - flexion, extension
foot - heelcord, clubfoot
Spina Bifida Guidelines of Care - L2
L3
possible orthotics needed:
night hip abduction splint
early: parapodium (10 months - 2 years)
later: stander, RGO, HKAFO, KAFO (if quads are less than 3/5 strength)
L3-5 may be temporarily addressed by twister cables or derotations straps
Spina Bifida Guidelines of Care - L2
L3
possible equipment for functional mobility:
community: wheelchair + cushion
home: stander - 1 hour/day minimum
early: may use walker or crutches
later: wheelchair in home
Spina Bifida Guidelines of Care - executive function
impairments can impact educational, social, and self help skills
Spina Bifida Guidelines of Care - cognitive function
can vary with degree of hydrocephalus number of shunt infections, and involvement of NS
function may not be related to level of lesion or ability to walk
support early assessment of attention difficulties, sensorimotor integration, visual perception, visual motor ability, psychosocial development in addition to fine/gross motor + communication ability
Spina Bifida Guidelines of Care - independent living
OT goals: basic activities of daily living (BADLs) or bathing, dressing, grooming, bowel/bladder program, skin care, moving/transportation in your home/community
instrumental activities of daily living (IADLs)
shopping, meal preparation, use of home appliances
Ages 1-5 Years Spina Bifida Recommendations
Monitor for change = Neurologic level, strength, gait, sensation, bowel/bladder function, and musculoskeletal changes
Get them upright and weight-bearing every day = Standing frame and mobility device if not pulling to stand
Discuss mobility options = Ambulation with orthotics and/or assistive device, Manual vs. power wheelchairs
Orthotics for Children with Spina Bifida:
HKAFO
KAFO
GRAFO
solid AFO
SMAFO
HKAFO (Hip-Knee-Ankle-Foot Orthosis):
For children with high-level lesions (typically thoracic to upper lumbar levels), where there is significant weakness or paralysis in the lower limbs and trunk
Limits independent mobility, but can enable standing and assist in gait training for children with poor trunk control or high lesion levels
KAFO (Knee-Ankle-Foot Orthosis):
For children with low lumbar to high sacral lesions, where hip muscles are strong enough to function, but knee or ankle control is insufficient
Helps children walk with assistive devices like crutches or walkers, but it may also restrict movement, depending on joint rigidity
GRAFO (Ground Reaction Ankle-Foot Orthosis):
Commonly used for children with weak quadriceps and lower sacral lesions
t’s designed to improve knee extension during stance phase
Aids children in walking with improved knee stability, making it easier to walk independently or with minimal assistance
Solid AFO (Ankle-Foot Orthosis):
For children with sacral-level lesions who need control at the ankle and foot due to weak plantarflexors or dorsiflexors
Helps children walk more efficiently by controlling foot drop and improving alignment during gait
SMAFO (Supramalleolar Ankle-Foot Orthosis)
For children with mild involvement or those with lower sacral lesions, needing mild to moderate control of foot and ankle movement
Offers minimal restriction, allowing more natural foot and ankle movement, beneficial for children who have some control but need stability for balance or walking
Equipment for Children with Spina Bifida
stander
mobile stander
manual wheelchair
reverse walker
forearm crutches
Ages 6-12 Years Spina Bifida Recommendations
Monitor for change = Neurologic level, strength, gait, sensation, bowel/bladder function, and musculoskeletal changes
Discuss benefits of different mobility devices for different settings = School, home, community
Flexibility and strengthening exercises = Emphasize UE strength to improve w/c mobility and functional activities
Explore adapted recreational sport options = For promotion of daily physical activity and weight-bearing activities
Ambulation in Children with Spina Bifida:
Some children with spina bifida will gain the strength and motor capacity to walk. Average onset is age 3.
Most likely will need to use a mobility support device.
Many children will lose this capacity later in life. Average offset is age 11.
Considerations for PT management and family education:
Increasing body size
Joint degradation
Decrease in bone density
Painful movement
Motivation
Independent living: 30-60%
Employment rate: 25-50%
Spina Bifida is a ___ defect and the most prevalent type is ___
neural tube
myelomeningocele
There are several ____ complications associated with this diagnosis
neuromuscular, sensory, motor, skeletal, and other medical
___ is delayed and ___ is dependent on the lesion level
Motor development
functional ability
Consider the materials/equipment you use since ___ of individuals with spina bifida have a latex allergy
> 70%
Follow the Guidelines for Care from the ____
Spina Bifida Association
Promote ____ and ___ activities
physical activity
weightbearing
CP Recap – Dosing/Frequency
task specific: Daily, integrated into routine
balance: Daily, integrated into routine
strength/power: 2-3x per week, non-consecutive days
gait training: 2-5x per week, time dependent on child’s fatigue (avg. 15-45 min)
Demonstrate the exercise/activity!
