Neural Tube Defects & Spina Bifida Flashcards

1
Q

what is a neural tube defect

A

most commonly-occurring complex congenital birth defect associated w long-term survival

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2
Q

what development is occurring at an embryonic level

A

mass cell division & early differentiation
- ectoderm
- mesoderm
- endoderm

beginnings of heart, CNS, MS system formation

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3
Q

what does the ectoderm develop into

A

NERVOUS SYSTEM**
skin
teeth

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4
Q

what does the mesoderm develop into

A

blood vessels
ms
bone

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5
Q

what does the endoderm develop into

A

GI
GU
non-ms portion of pulm system (ie lungs)
urinary tract

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6
Q

what is the process of ectoderm development into the nervous system

A

ectoderm ->
neural plate (formed day 18)

** neural tube > CNS
- brain
- SC

** neural crest > PNS
- CNs
- spinal n.
- autonomic n.
- ganglia

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7
Q

when does the neural ectoderm close

A

26-28days after fertilization

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8
Q

what are the 2 processes after the ectoderm closes

A

neurulation (cranial)
canalization (caudal)

starts @C1 and proceeds cephalad and caudal directions simultaneously

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9
Q

what are the 2 theories behind path of NTD and what is the flaw

A
  1. failure of closure
  2. rupture of previously closed neural tube

flaw: neither adequately explains all deficits

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10
Q

what are the assumed causes of NTD

A

genetic vulnerability and/or environmental trigger (ie teratogens, nutritional deficiencies)

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11
Q

what is spinal dysraphism

A

general term to describe congenital abnormalities that include defects of vertebra, SC, or nerve roots

  • many types of NTD/dysraphisms
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12
Q

what is spina bifida occulta

A

non-fusion vertebral arches
no neural problems
- no change to underlying neural tissues

not visible, it is hidden

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13
Q

where is spina bifida occulta most common

A

in lumbo and sacral regions

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14
Q

what may be the only evidence of spina bifida occulta

A

darkened area or pigmentation of skin

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15
Q

what is spina bifida cystica

A

non-fusion vertebral arches
neural damage

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16
Q

what are 2 types of spina bifida cystica

A

meningocele
myelomeningocele

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17
Q

what is meningocele

A

cystic sac w meninges & CSF

SC stays w/i canal but may have abnormalities

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18
Q

what are clinical signs of meningocele

A

none
- or may have (varied)

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19
Q

what is myelomeningocele

A

cystic sac like meningocele, but SC and meninges in sac
- could be open

neural tissue - abnormalities

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20
Q

what are the results of myelomeningocele

A

varying sensory and motor impairment @ level of lesion and below

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21
Q

what is an interchangeable term for meningomyelocele

A

myelodysplasia

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22
Q

what is the risk w open myelomeningocele

A

additional damage d/t exposure to amniotic fluid
- high risk for infection and meningitis

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23
Q

what ethnicity is the incidence of spina bifida the highest

A

hispanic

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24
Q

what are risk factors for spina bifida (8)

A
  1. previous NTD-affected pregnancy
  2. maternal insulin-dependent diabetes
  3. seizure meds
  4. medically diagnosed obesity
  5. maternal hyperthermia
  6. low folic acid levels
  7. lower SES
  8. agent orange
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25
what is a key preventative measure
folic acid - 400mcg/day preconception up to 3mo of pregnancy - 4000mcg/day if prior NTD
26
what do folic acid supplements modify the risk of
modifies inc risk for NTDs for pregnant persons w periconceptual fever
27
what are 2 clinical presentations of NTDs
1. absent sensory/motor below level of lesion (B) 2. loss of neural bowel and bladder control
28
what type of NTDs is absent sensory and motor really common in
myelomeningocele
29
what are the implications for sensory loss
skin safety and skin care - teach for inspection
30
why is ICC important for someone w a loss of neural bowel and bladder control
allows bladder to fully empty and dec risk of infection
31
for people w a loss of neural bowel and bladder control, what are common intervention/management plans
prophylactics for infection bowel programs
32
what does (B) absent sensory and motor below level of lesion look like
may be asymmetrical may skip levels may be incomplete/complete flaccid paralysis unless incomplete -> mix of spasticity & volitional control
33
what does a loss of neural bowel and bladder control look like
neurogenic w sacral plexus involvement - neurological control of bladder & sphincters are impaired or absent
34
what is a red or yellow flag w NTD
new presence of or change in spasticity may be indicative of progressive neurologic dysfunction
35
what is the PT implication w the possibility of skip lesions in NTDs
PT must test motor function - left/rest sides - all myotomes - all dermatomes exam must include tests of spasticity and DTRs
36
what are skip lesions
innervation is intact or partially intact below areas w little to no innervation
37
what are systems w common complications (3)
CNS msk multisystem
38
what are common CNS complications (3)
1. hydrocephalus 2. arnold chiari malformation 3. progressive neurological dysfunction - tethered cord syndrome - hydromyelia
39
what are 2 examples of multisystem complications
latex allergy obesity
40
what is hydrocephalus
abnormal accumulation of CSF in ventricles d/t obstruction - interrupting CSF circulation
41
what are sx of hydrocephalus
"sunsetting" of eyes bulging fontanelle in young infant VS instability
42
what is the treatment for hydrocephalus
shunt - ventriculo-peritoneal (VP)** ----- most common - ventriculo-atrial (VA) - ventriculo-pleural
43
what are reasons for shunt dysfunction
infection disconnected tubing tubing needs to be repaired
44
what are general early warning s/sx of shunt dysfunction (7)
dec activity level dec school performance incontinence visual disturbances neuro sx (sz, spasticity, arousal, HA) infection signs (fever, malaise) speech
45
what is arnold chiari II malformation (ACMII)
cerebellar hypoplasia - caudal displacement of cerebellum and medulla thru foramen magnum severity varies
46
what are sx of ACMII (7)
stridor apnea GE reflux paralysis of vocal cords swallowing problems aspiration (may need tracheostomy)
47
what is ACMII associated with
hydrocephalus
48
what is the path of ACMII that is creating the sx seen
impacts the CNs - think ab bulbar and brainstem functioning and CN compression
49
what are treatment options for ACMII
manage sx cervical laminectomy - relieve pressure on SC
50
what are 3 signs of progressive neurologic dysfunction
1. changes in spasticity, strength, sensation, pain 2. scoliosis development/worsening 3. change in bowel/bladder sphincter control
51
what are 3 causes for progressive neurologic dysfunction
1. tethered cord syndrome 2. severe intervertebral disk herniation into spinal canal 3. hydromyelia
52
what is tethered cord syndrome
scarring to SC to overlying dura or skin leading to traction on neural structures
53
what sx are seen as a result of tethered cord syndrome and why
progressive neurologic changes seen w growth spurts metabolic changes and ischemia can result from stretching of neural tissues
54
what is hydromyelia
UE weakness, changes in spasticity d/t altered communication w higher motor centers
55
what is the intervention for hydromyelia
might put another shunt in - this time a spinal shunt
56
what are complications related to CNS dysfunction
1. perceptual motor deficits 2. communication issues 3. developmental delays 4. vision (ie strabismus, nystagmus)
57
how do communication issues related to CNS complications present
early in language development better expressive than receptive
58
what is strabismus
problem of control of extraocular eye ms - eyes do not align w each other when focused on a target - what is initially received is blurry and confusing
59
what can cause strabismu
multiple etiologies - ex: CN damage
60
what happens if strabismus is untreated
one eye will become more dominant than the other
61
what is nystagmus
involuntary, uncontrolled repetitive eye movement - seen in infancy or acquired
62
what are causes of nystagmus
vestibular main one - others too
63
can nystagmus resolve on its oqn
yes - but depends on severity
64
what nystagmus is the most common
horizontal pendular nystagmus
65
what can inc nystagmus sx
when one eye is occluded (dec vision)
66
what is the role of MSK complications like deformities
primary or secondary impairments
67
what are 5 factors of MSK complications
1. ms imbalance 2. progressive neurological dysfunction 3. intrauterine positioning 4. anomalies 5. deformities after fx
68
what are 4 MSK complications seen at LE
1. developmental dysplasia of hip 2. tibial torsion 3. genu varus/valgus 4. club feet/foot
69
what is a consideration when treating someone w LE MSK complications
might not correct bc of neg impact on prolonged immobilization - depends on pt
70
what MSK complications are seen at the spine
scoliosis lumbar kyphosis
71
what MSK complications are seen at UE and why
overuse syndrome(s) - depending on motor level, may rely heavily on UE for amb and other functions
72
what are 4 complications seen at a multisystem level
osteoporosis & osteoporotic fx skin breakdown latex allergies obesity (multifactorial)
73
what is the PT implication for managing someone w osteoporosis & osteoporotic fx
careful w handling - short lever arms
74
what are 3 medical management interventions
prenatal testing: screening & dx management of neonate general care guidelines
75
what are 2 screening tools for prenatal
alphafetoprotein (AFP) US
76
what is alphafetoprotein (AFP) and how is it used in prenatal testing
AFP produced by fetal liver, which will go up and travel thru mother's blood stream - maternal AFP measured screening tool taken b/w 16-18wks (retest prn)
77
how is US used in prenatal testing
screen/dx tool screens for abnormalities
78
how is amniocentesis used in prenatal testing
dx tool check acetylcholinesterase (more accurate than AFP) - also check for chromosomal abnormalities
79
what are medical treatment options if NTD detected prenatally
can treat intra-uterinely or after birth
80
how is NTD treated intra-uterinely
intra uterine closure of defect - fix baby and pop back in - would rather do closer to gestation (20-26wks gestation)
81
how does intra uterine closure of NTD impact the infant vs mother
infant - reduced complications - improved function mother - inc risk of preterm delivery - thinning of uterus @surgical site
82
how is detected NTD treated after birth
deliver via C-section (esp if open skin lesion) - reduces damage to defect immediate sterile care of lesion - great risk once exposed to area surgical closure w/i 24-72hrs shunt placement prn
83
what is the goal of SBA care guidelines
EBP guidelines to treat and care for individuals not just conditions associated w SB
84
what are the 3 key concepts of SBA care guidelines
care coordination - pt/family centered care w//i medical home care co-management - team based care in community considerations - language - level of acculturation - cultural constructs of care