COLLEGE OF

PHYSICAL THERAPY

NEURAL TUBE DEFECTS

Monique S. Coloscos, PTRP
 COLLEGE OF
PHYSICAL THERAPY

Development of Spinal Cord

Embryology
• Neural plate 18th day of gestation
• Neural tube- CNS, brain, and spinal
cord
• Cranial end-closes 24th day of
gestation
• Caudal end- closes 26th day of
gestation Neural crest- PNS (CN, PN,
ANS)

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Development of Neural Tube

The neural tube closes in a zipper-like fashion

between the 23rd and 28th day after
conception.

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
NEUROLATION COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
PATHOEMBRYOLOGY COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
NEURAL TUBE DEFECTS PHYSICAL THERAPY

• AKA myelodysplasia
• Aberrations in the neural tube closure (neurolation)
• Group of heterogeneous anomalies of CNS 2° defective
closure of the neural tube during embryogenesis
• MC NTDs are spina bifida, anencephaly, and
encephalocele

(Public Health Agency of Canada, 2013: Hinderer, Hinderer,

& Shurtleff, 2012; Wu, Cohen, Bodeaus, & Stiens, 2008)

-Author/s (Year)
 COLLEGE OF
EPIDEMIOLOGY PHYSICAL THERAPY

• approximately 300,000 pregnancies yearly in the United States.

• NTD prevalence, depend on race and ethnicity,

a. Women of Hispanic ethnicity having highest
b. Women of African American and Asian descent having the
lowest.

• Folic acid fortification can substantially decrease a woman's risk

of an NTD-affected birth.

• In low income countries, NTD accounts 29% of the neonatal

deaths due to observable birth defects.
(Zaganjor et al., 2016)
-Author/s (Year)
 COLLEGE OF
POTENTIAL RISK FACTOR PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
NEURAL TUBE DEFECTS PHYSICAL THERAPY

• Anencephaly • Spina bifida cystica

• Exencephaly
• Iniencephaly
• Craniorachischsis
• Holorachischisis
• Spina bifida occulta
➢Meningocoele
➢Lipomeningocoele
➢Myelomeningocoele
➢lipomyelomeningocoele

-Author/s (Year) 13
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
MYELOSCHISIS COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
CLASSIFICATION OF NTDs PHYSICAL THERAPY

NTDs are classified as:

1. Open: often involve the entire CNS with neural tissue is

exposed and CSF leaking

2. Closed: localized to the spine; brain rarely affected;

neural tissue not exposed although the skin
covering the defect may be dysplastic

-Author/s (Year)
 COLLEGE OF
NEURAL TUBE DEFECTS PHYSICAL THERAPY

3 Major Types of NTD:

1. Anencephaly
• Failure of closure of the anterior neuropore, resulting in variable
loss of cranial structures
• Lethal
2. Encephalocele
• Cystic structure that forms at the craniocervical junction
• Degree of impairment ranges from mild to severe, depending on
the cyst contents
3. Spina bifida
• Failure of the vertebrae to fuse posteriorly

-Author/s (Year)
(Wu, Cohen, Bodeau, & Stiens, 2008)
 COLLEGE OF
PHYSICAL THERAPY
1. Anencephaly

• birth defect in which a

baby is born without parts
of the brain and skull
• upper part of the neural
tube does not close all the
way
• 100% mortality

-Author/s (Year)
 COLLEGE OF
2. Encephalocele PHYSICAL THERAPY

• Sac-like protrusion or projection of

the brain and the membranes that
cover it through an opening in the
skull
• Neural tube is a narrow channel
that folds and closes during the
third and fourth weeks of
pregnancy to form the brain and
spinal cord
• 46% mortality
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
3. Spina Bifida

• Second most common disability in childhood following cerebral

palsy

Epidemiology
• 2nd MC type of birth defect
• 1:1,000 livebirths (De Lisa, 2011)
• Females are slightly more affected than males at about 2.4-5%
• 7% mortality
• Prevalence: North America had the lowest prevalence of spina
bifida and Asia had the highest (Atta et al., 2016)
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
3. Spina Bifida

Etiology
• Folate deficiency
• Most well established risk factor for isolated NTDs
• Gene coding
• C677T variant of the gene coding for 5,10- methylenetetrahydrofolate
reductase, an enzyme involved in folate metabolism
• Risk for spina bifida and anencephaly
• Ethnicity
• Celtic populations, Sikhs, French Canadians, Hispanics
• Environmental exposures
• valproic acid & hyperthermia
(Public Health Agency of Canada, 2013)
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
3. Spina Bifida
Etiology
• Micronutrients
• Vitamin B12
• Low socioeconomic class
• Mid-spring conception
• Maternal obesity, alcohol consumption, cigarette smoking,
caffeine intake
• In-utero exposure to anticonvulsant drugs

(Public Health Agency of Canada, 2013)

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
3. Spina Bifida
Subtypes:
Spina Bifida Occulta
• Most common type (10%)
• Spinal cord and the meninges are not involved
• Asymptomatic
• Presence of hairy tuft, dimples, or hemangioma
• Can be associated tethered cord with development
• Can be associated with pigmented nevus, angioma, hairy patch,
dimple and dermoid sinus

(Hinderer, Hinderer, & Shurtleff, 2012; Wu, Cohen, Bodeau, & Stiens, 2008)
-Author/s (Year)
 COLLEGE OF
3. Spina Bifida PHYSICAL THERAPY

Subtypes:
Spina Bifida Aperta/Cystica
- Bony defect with herniation of spinal canal
elements
➢ Meningocele
• Cystic structure that contains the meninges and
CSF protrudes through the open vertebral defect,
but the spinal cord is not involved
• Repaired at birth

(Hinderer, Hinderer, & Shurtleff, 2012; Wu, Cohen, Bodeau,

& Stiens, 2008)
-Author/s (Year)
 COLLEGE OF
3. Spina Bifida PHYSICAL THERAPY

Subtypes:
Spina Bifida Aperta/Cystica
- Bony defect with herniation of spinal canal elements
➢ Myelomeningocele (MMC)
• Herniation of the spinal cord and the meninges through the vertebral
defect
• MC site: lumbosacral junction
• Neural Deficits:
• Neurogenic bowel and bladder
• Motor and sensory involvement
• Hydrocephalus
• Chiari malformations
• Precise deficits depend on the level of the herniation

(Hinderer, Hinderer, & Shurtleff, 2012; Wu, Cohen, Bodeau, & Stiens, 2008)
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
Arnold-Chiari malformation PHYSICAL THERAPY

• Chiari II malformation, present in over 90% of infants with

open myelomeningocele
• Common cause of hydrocephalus in these infants.
• Most common cause of death for infants and young
children with an open NTD
(Jacobs, Deavenport-Saman, Smith, & Van Speybroeck, 2016)

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
Caudal Regression Syndrome PHYSICAL THERAPY

• Absence of the sacrum and portions of the lumbar

spine
Associated with maternal diabetes
• Associated findings include syringomyelia, anorectal
stenosis, renal abnormalities, external genital
abnormalities, and cardiac problems
• Motor and sensory abnormalities

-Author/s (Year)
 Arnold-Chiari malformation COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
Arnold-Chiari malformation PHYSICAL THERAPY

(Jacobs, Deavenport-Saman, Smith, & Van Speybroeck,

-Author/s (Year)
 COLLEGE OF
Arnold-Chiari malformation PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
S/Sx of ACM II

• Stridor- especially with • Poor feeding

inspiration • Ataxia
• Apnea- when crying, or at • Hypotonia
night • Upper extremity weakness
• Gastroesophageal reflux • Seizures
• Abnormal
• Paralysis of vocal cords extraocular movements
• Swallowing difficulty • Nystagmus
• Bronchial aspiration
• Tongue fasciculations
• Facial palsy

-Author/s (Year)
 COLLEGE OF
NEUROLIGIC MANIFESTATION PHYSICAL THERAPY

• DIASTEMATOMYELIA
o Vertical dissection of the spinal cord secondary to a
congenital bony spur.

• MYELOCYSTOCELE
o Cyst in the spinal cord

• HYDROMYELIA
o H2O in the Spinal Cord

• LIPOMENINGOCELE
o Inc Fat production in the meninges
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
HYDROCEPHALUS
• dilation of the cerebral ventricles caused by blockage
• of the CSF pathways
• characterized by excessive accumulation of CSF in the cerebral
ventricles or subarachnoid space

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
HYDROCEPHALUS
• Non-communicating hydrocephalus
• results from obstruction within the ventricles
• Example: congenital aqueductal stenosis

• Communicating hydrocephalus
• results from blockage outside the ventricle or within the
subarachnoid space
• Example: adhesions after meningitis

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
HYDROCEPHALUS

-Author/s (Year)
 COLLEGE OF
HYDROCEPHALUS
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

HYDROCEPHALUS
• Normal-pressure hydrocephalus
• occurs when the CSF is not absorbed by the arachnoid villi,
possibly secondary to posttraumatic meningeal hemorrhage.
• is characterized clinically by the triad of progressive dementia,
urinary incontinence and ataxic gait (wacky, wobbly, and wet).
• Hydrocephalus ex vacuo
• results from a loss of cells in the caudate nucleus (e.g.,
Huntington disease).

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

HYDROCEPHALUS TRIAD

• Sunset eyes
• Crack pot sign
• Cushing sign
• Bradypnea
• Bradycardia
• Hypertension

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

SIGNS & SYMPTOMS of MMC

• Intellectual function
• Severe physical deficits & greater restriction of early motor
exploration & planning
• Cocktail party syndrome
• Obesity
• Frequent problem among children with myelodysplasia
• Increases the risk of decubiti & UE stress
• Attributed to reduced daily energy expenditure

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
SIGNS & SYMPTOMS of MMC
• Thoracic lesions
• Spare UE, including intercostals, abdominals, and back
muscles weakness
• Respiratory difficulty is common
• Lack of volitional movements
• T6 T12 Lesion
• Complete leg paralysis
• Kyphoscoliosis
• Hip, knee flexion contractures
• Equinus foot
• Bowel & bladder dysfxn
-Author/s (Year)

SIGNS & SYMPTOMS of MMC
L1-L3 Lesion
• Hip flexion & adduction
contractures
• Scoliosis
• Hip dislocation
• Lordosis
• Knee flexion contractures
• Equinus foot
• Bowel & bladder dysfxn
COLLEGE OF
PHYSICAL THERAPY
• L4-L5 Lesion
• Scoliosis
• Lordosis
Hip dislocation
• Calcaneovarus or
calcaneus foot
• Knee extension contractures
• Hip, knee flexion contractures
• Bowel and bladder dysfxn
 COLLEGE OF
PHYSICAL THERAPY

SIGNS & SYMPTOMS of MMC

• Sacral lesions
• Active plantar flexion is stronger & some toe
• movements are present
• Pes cavus
• Bowel and bladder dysfxn
• Obesity
• Frequent problem among children with myelodysplasia
• Increases the risk of decubiti & UE stress
• Attributed to reduced daily energy expenditure

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
SIGNS & SYMPTOMS of MMC
• Sensory deficit
• Partial or complete absence
• Decubitus ulcers & pressure sores

• Other consequences of denervation

• Decrease skin temperature & slight bluish discoloration
• Trophic effects
• Osteoporosis

-Author/s (Year)
 COLLEGE OF
SIGNS & SYMPTOMS of MMC
PHYSICAL THERAPY

• Neurologic bladder dysfunction

• Hypotonic or absent
• Overactive, unstable, or hyperreflective is associated with
uninhibited contractions
• >80 of children with MMC

• Neurogenic bowel dysfunction

• Problems with bowel motility & stool consistency
• Diarrhea or constipation
• 80% of children with MMC
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
ORTHOPEDIC COMPLICATION
ORTHOPEDIC COMPLICATION
T6-T12 Kyphoscoliosis
L1-L3 Severe hip dislocation
L4-L5 Mild hip dislocation
Calcaneovarus
S1 Calcaneocavus
S2 Claw toe
S3-S4 Sphincter Control Problems

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Physical Therapy Examination

• MMT- motor Level is assigned according to the last intact

nerve root found.
• ROM – L2-L3; L3-L4 (Hip Flexion Tightness)
• Sensory Ax

-Author/s (Year)
 COLLEGE OF
Motor Level Criteria for Assigning Motor Levels PHYSICAL THERAPY

• T10 or above T11: Determined by sensory level or palpation of

abdominal muscles
• T12: Some pelvic control is present in sitting or supine (this may come
from the abdominals or paraspinal muscles). Hip hiking from the
quadratus lumborum may also be present
• L1: Weak iliopsoas muscle function is present (Grade2)
• L1-L2: Exceeds criteria for L1 but does not meet L2 criteria
• L2: iliopsoas, sartorius, and the adductors all must be grade 3 or
better
• L3: meets or exceeds the criteria for L2 plus the quds are grade 3 or
better
• L3-L4: exceeds criteria for L3 does not meet L4 criteria
-Author/s (Year)
 COLLEGE OF
Motor Level Criteria for Assigning Motor Levels
PHYSICAL THERAPY

• L4: meets or exceeds the criteria for L3 and the medial hamstrings
or TA is grade 3 or better; weak PT may also be present
• L4-L5: exceeds criteria for L4 but does not meet L5 criteria
• L5: meets or exceeds the criteria for L4 and has lateral hamstring
strength of grade 3 or better plus one of the following g. med grade
2 or better, PT grade 4, or TP grade 3 or better
• L5-S1: exceeds criteria for L5 but does not meet S1
• S1: meets or exceeds criteria for L5 plus at least 2 of the ff:
gastrocnemius grade 2 or better, g.med grade 3 or better, g. max
grade 2 or better
• S1-S2: exceeds criteria for S1 but does not meet S2 criteria

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Motor Level Criteria for Assigning

Motor Levels
• S2: meets or exceeds the criteria for S1, the gastrocsoleus must
be grade 3 or better, and g. med and max are grade 4 or better
• S2-S3: all of the lower limb muscle groups are or normal strength
(may be grade 4 in one or 2 groups). Also includes normal-
appearing infants who are too young to be bowel and bladder
trained
• "no loss" meet all of the criteria for S2-S3 and has no bowel or
bladder dysfunction

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Prenatal Diagnosis

• Measurement of alpha-fetoprotein (AFP) &

acethylcholinesterase
• Testing maternal serum analyzes between week
15 & 22
• Invasive testing
• Amniocentesis
• Chronic villus sampling

-Author/s (Year)
 COLLEGE OF
Prenatal Diagnosis PHYSICAL THERAPY

• Fetal ultrasound
• the fetal spine can be examined by ultrasonography in the sagittal, axial
and coronal planes from late first trimester onwards, providing the
principal and most accurate mode of prenatal diagnosis.
• In the late 1980s, the 'lemon' and 'banana' signs were described.
• The lemon sign refers to a loss of the convex outward shape of the
frontal bones with mild flattening, and is present in virtually all fetuses
with MMC between 16 and 24 weeks' gestation
• less reliable after 24 weeks, when present in only 30-50% of cases

-Author/s (Year)
Copp et al., 2016
 COLLEGE OF
Prenatal Diagnosis PHYSICAL THERAPY

• Fetal ultrasound
• The banana sign refers to the shape of the cerebellum and is thought to
be due to tethering of the spine with downward traction on the
cerebellum (the Chiari II malformation).
• can be detected from 14 weeks onwards. Cerebellar abnormalities are
present in 95% of fetuses irrespective of gestation.
• Cerebellar abnormality seen most commonly' gestation before 24 weeks
is the banana sign (72%) whereas in later pregnancy the cerebellum is more
often absent from view (81%)

Copp et al., 2016

-Author/s (Year)

Ambulation Potential in MMC
Ambulation Potential
Community ambulation
without assistive device
No complete reliance on
wheelchair use; majority are
community ambulators
Partial or complete reliance
on wheelchair use
-Author/s (Year)
COLLEGE OF
PHYSICAL THERAPY
Associated Motor Strength
Grade 4-5 gluteal and tibialis anterior
function
Grade 4-5 iliopsoas and quadriceps
function
Grade 0-3 iliopsoas function
 COLLEGE OF
Prognosis for Ambulation PHYSICAL THERAPY

Level Orthoses/Assistive Device Long-Term Prognosis/

Community Mobility
Thoracic Might use THKAFO or HKAFO for supported Wheelchair
standing when young
L1-2 Might walk for short distances when young using Wheelchair
KAFO and walker or crutches
L3 Might walk at home and for short distances in the Wheelchair
community when young using KAFO and crutches
or walker
L4 Community ambulation with AFO and crutches, Ambulation; wheelchair for
especially when young long distances
L5 Community ambulation without orthoses or with foot Ambulation; may use
orthoses; may use wheelchair may use crutches for wheelchair for sports
long distances because of fatigue

Sacral Community ambulation without orthoses or with for Ambulation; may use
orthoses wheelchair for sports
-Author/s (Year)
 COLLEGE OF
Orthosis & Functional Outcomes PHYSICAL THERAPY

LEVEL ORTHOSIS FUNCTIONAL OUTCOMES

T-6 –T12 Parapodium + THKAFO Wheelchair for all functional
Mobility
L1-L2 RGO + HKAFO Wheelchair for most
functional mobility
L3-L4 KAFO Household amb is possible
L4-S1 AFO + Ground Reaction AFO Household and community
amb is possible c some
limitation
S1 Foot orthosis / Supramalleolar Household and community
Orthosis amb is possible s some
limitation
-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Physical Therapy
Rehabilitation
Monique S. Coloscos, PTRP
 COLLEGE OF
PHYSICAL THERAPY
TREATMENT
• Neurological treatment • Orthopedic treatment
• Ventriculoperitoneal shunt • Pavlik harness
• Cautious on immediate surgery • Achilles’
tendon lengthening
• Flexor tenodesis & plantar
• Urologic treatment fasciotomy
• Anticholinergic medications • Motor development
• Alpha-adrenergic agents • Caster cart
• Antibiotics

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Orthoses to Improve Ambulation

• 2-3 y/o is a prerequisite to learn the principles of crutch

• upper lumbar or low thoracic lesions- have the physical
ability for the task at 4-5 y/o

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

Orthosis & Functional Outcomes

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
Orthoses to Improve Ambulation
Level of Injury Orthotics Description
Midthoracic Therapeutic ambulation in early are, but later
requiring wheelchair

• Parapodium • Provides structural support from the midthoracic

level to the feet Ambulate therapeutically: swing-
through gait (walker or crutches)
• Child grows: larger base plate of parapodium to
maintain stability → ambulation becomes difficult

• Swivel walker • Modification of the parapodium with a footplate

attachment that translates lateral trunk movement
to forward propulsion
• Increased ambulation efficiency over the
parapodium
(Wu, Cohen, Bodeau & Stiens, 2008)
-Author/s (Year)
 COLLEGE OF
Orthoses to Improve Ambulation PHYSICAL THERAPY

Level of Injury Orthotics Description

Low thoracic/ high • Reciprocal gait orthosis Household-level ambulation

lumbar • Bilateral HKAFO with an elaborate cable
system that links hip flexion in each hip with
contralateral hip extension
Midlumbar Limited community ambulation
• HKAFO • May be needed for ambulation in presence of
• KAFO hip instability
• AFO • Correct or prevent knee deformity
• May be adequate when knee extension
strength is >3/5
Low lumbar/ sacral Communication ambulation
• Floor reaction orthosis • For nonfixed calcaneal foot deformity, to
increased knee extension moment
• Ankle orthosis • For ankle stabilization
• Shoe modifications • For foot deformities

-Author/s (Year)
(Wu, Cohen, Bodeau & Stiens, 2008)
 COLLEGE OF
PHYSICAL THERAPY
Parapodium HKAFO
 COLLEGE OF
Rehabilitation PHYSICAL THERAPY

• Develop & implement a comprehensive

treatment plan
• Musculoskeletal system
• PROM exercises
• Strengthening exercises
• Examination of motor function

-Author/s (Year)
 COLLEGE OF
Rehabilitation PHYSICAL THERAPY

• Bladder training
• Catheterization, pharmacologic, surgical tx
• Bowel training
• High fiber diet & fluid intake
• Timed evacuation
• Crede's maneuver
• Digital stimulation
• Rectal suppository
• Colonic cleansing enema

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY
Education

• Preschool proggram
• Motor & self-care activities
• Motor & self-care activities
• Social interaction
• Communication skills
• Cognitive tasks

-Author/s (Year)
 COLLEGE OF
Emotional Social Adjustment
PHYSICAL THERAPY

• Low self-esteem, insecurity, self-doubt, & social isolation

• Physical appearance
• Family environment & social experiences

-Author/s (Year)
 COLLEGE OF
PHYSICAL THERAPY

“The key to success is action, and the

essential in action is perseverance” –
Sun Yat Sen

THANK YOU!
GOD BLESS!