spina bifida Flashcards
what is spina bifida
a type of neural tube defect that occurs when one or more vertebrae fail to fuse at approx 28 days gestation, leaving the spinal cord unprotected in utero
prevalance of spina bifida
0.4-0.9 per 1,000 babies (less than CP)
higher prevalance in hispanics and caucasians compared to african americans and asians
90-95% have no family history
open spinal dysraphism (OSD)
meninges and/or nerve tissue are exposed to the external environment. most prevalant
closed spinal dysraphism (CSD)
meninges and nerve tissue are covered by skin. mildest form of the condition
prenatal diagnosis at 13-15 weeks
blood lab - alpha fetoprotein (AFP), 80% reliable
prenatal diagnosis 16 - 18 weeks
amniocentessis -100%
prenatal diagnosis 16-24 weeks
fetal ultrasound >90% reliable
most common location
L5-S1
complexity
Complications can range from minor to severe
physical and mental disabilities.
Impact determined by:
* Size/Location of malformation
* Open vs closed
* Which spinal nerves are involved
The higher the malformation occurs on the
back, the greater the amount of nerve
damage and loss of muscle function and
sensation.
causes
genetic
environmental
nutritional
folic acid relationship
(vitamin b9) when taken by the mother prenatally reduces the risk of neural tube defects by up to 70%
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.
NM, 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 (73%)
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 and symptoms
headache
nausea
lethargy
vision problems
hoarse cry
swallow issues
changes in speech
seizures
arnold-chiari malformation type 2
portion of the brain stem descends into the cervical spine
arnold-chiari malformation type 2 : signs and symptoms
changes in breathing pattern
swallowing problems (gagging)
ocular muscle palsies
weakness/spasticity in arms
bradycardia
club foot
20-50% of infants w spina bifida
many factors:
- muscle imbalance
- contractures
-intrauterine positioning
- spasticity
thethered 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
signs and symptoms tethered cord
weakness
scoliosis
pain
orthopedic deformity
urologic dysfunction
dimple or y gluteal cleft
motor testing
motor level determined by which muscle group can be graded 3/5 MMT scale
common assessments - body function and structure
goni - ROM
myotomes and dermatomes
HHD or MMT
gait
common assessments - acticity 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
motor development first 6 months
motor development is close to typical (head control and hand use) but less LE movement
motor development - rolling
children with THORACIC level SB usually roll by 18 months with compensatory strategies, many will progress to crawling
motor development - sitting
children with MID LUMBAR SB can sit with support with delay and increased lordosis, typically development in L4-L5 lesions
motor development - pull to stand/cruise
children with LOW LUMBAR lesions, may progress to ambulation with AD with an average onset of age 3
ambulation prediction for lower motor level
lower motor level = need good quad strength
no history of shunt = cognitive function necessary for ambulation
no history of hip or knee contracture surgery
functional ability by motor level T6-T12
wc for mobility
non-functional ambulation and standing
degree achieving community ambulation 0-33%
functional ability by motor level L1-L3
wc for mobility
limited household ambu
dg acheiving community ambu ~30%
functional ability by motor level L3-L4
household ambu
limited community ambu
wc for long distances
dg achieving community ambu ~30%
functional ability by motor level L4-L5
household and community ambu
wc for long distances
dg achieving community ambu 38%
functional ability by motor level S1-S2
community ambu
ALL
trendelenberg gait
Hip abductor weakness (Motor
innervation L4-S1)
* Associated with weak hip extensors
and plantar flexors
* Trunk sways side to side
* Knee valgus
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
(Houtrow, 2020)
- Fetal surgery is higher risk to
the baby and the mother
medical management next 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
medical management 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 angle > 40 dg
surgical options include fusion or growing rods
medical management orthopedics - hip sublux and dislocation
fractures 11-30% in children with SB related to osteopenia (most common: distal femur and femoral neck)
SB 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 BW 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 ~2months sooner
age 1-5 rec
monitor for change - neuro level, strength, gait, sensation, bowel/bladder, MSK
get them upright and WB everyday - standing frame and mobility device if not pulling to stand
discuss mobility options
- ambu w orthotics and or AD
manual vs power wc
6-12 age recc
monitor for change - neuro level, strength, gait, sensation, bowel/bladder, MSK
discuss benefits of diff mobility devices for diff settings - school, home, community
flexibilty and strengthening exercises - emphasize UE strength to improve wc mobility and functional activities
explore adapted recreational sports options - promote daily PA and WB activities
ambulation in children w SB
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
motor function into adulthood w SB
considerations for PT management and family ed:
increasing body size
joint degradation
decrase in bone density
painful movement
motivation
independent living 30-60%
employment rate 25-50%
