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84 Cards in this Set

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  • Back
What is the most common childhood abnormality/disability?
Second most common?
1. CP
2. Spina Bifida
Where is the highest incidence of spina bifida?
highest = UK
lowest = japan
Name 5 environmental risk factors for developing spina bifida
1. Low socioeconomic
2. midSPRING conception
3. Maternal OBESITY
4. Anticonvulsant exposure (valproic acid, carbamazepine)
5. Maternal febrile illness
What supplement has been shown to significantly reduce the ocurrence & recurrence of neural tube defects?

*0.4 mg/day
In the embryo when does normal neural tube closure begin?
3rd week of gestation

*starts mid cervical and goes both cephalad and caudal
*defect in closure is thought to actually happen at around day 26
Which body fluids are tested in order to detect neural tube defects prenatally -how are they collected?
What two substances are measured specifically?
Maternal serum, amniotic fluid collected via blood draw & AMNIOCENTESIS
- Measuring
1. Alpha Feto Protein (AFP) in amniotic fluid
2. Acetylcholinesterase
What is the ideal time to have an amniocentesis performed in order to look for neural tube defects?
16-18 weeks gestation
*nearly 100% accurate for detecting elevated amniotic fluid AFP
*80% reliable in weeks 13-15
How is it possible for a child to be born with a neural tube defect even though amniocentesis at 16-18 weeks showed normal amniotic fluid AFP levels?
Amniocentesis can only detect elevated AFP if the neural tube defect is OPEN (not covered by skin)
- CSF needs to be able to leak out in order for AFP to be elevated
What is the ideal time to have a fetal ultrasound performed in order to look for neural tube defects?
16-24 weeks gestation

*>90% reliability
What are the two major types of Spina Bifida?
1. Occulta - no herniation
2. Cystica - there is hernation of spinal cord contents
- meningocele
- myelomeningocele
- myelocele
What does spina bifida "APERTA" mean?
refers to any NTD lesion in which deformity is OPEN TO THE ENVIRONMENT (ie, any category of spina bifida CYSTICA)
What is are some frequent physical exam findings that indicate spina bifida occulta?
- pigmented nevus
- angioma
- hirsute patch
- dimple
- dermal sinus

*usually lumbosacral
What type of spina bifida is associated with Arnold-Chiari malformation?
Motor paralysis in spina bifida is usually UMN or LMN type?
What type of spina bifida?
Failure of fusion of the posterior elements of the vertebrae.
What type of spina bifida?
The protruding sac contains meninges and spinal fluid but NOT the spinal cord.

*meningo = meninges
What type of spina bifida?
The protruding sac contains meninges, spinal cord, & spinal fluid.

*myelo = spinal cord
*meningo = meninges
What type of spina bifida?
Cystic cavity is in FRONT of the spinal cord

*This is not a cystic "sac" it is an actual CAVITY that pushes the spinal cord out through the defect
What type of spina bifida?
Arnold-Chiari malformation Complicated by hydrocephalus in over 90% of the cases
What type of spina bifida?
Occurs in <10% of spina bifida cystica
What type of spina bifida?
In the absence of other underlying malformation neurologic signs are normal
What type of spina bifida?
Rare associated with SACRAL LIPOMA and TETHERED CORD

*these children should be followed closely for these reasons
What type of spina bifida?
Motor paralysis, sensory deficits, neurogenic bowel and
What is the most common veretebral level for spina bifida occulta to occur?
What type of spina bifida?
Affects the overwhelming majority of those with spina bifida cystica
What type of spina bifida?
Exposed spinal cord without overlying skin or even meninges
40% of the associated deficits caused by spina bifida are due to a lesion at what spinal cord levels?
What are the deficits seen?
- complete leg paralysis (flaccid>spastic)
- hip/knee flexion contractures (frog leg)
- kyphosis/scoliosis
- equinus foot
- bowel/bladder dysfxn
EARLY hip dislocation is a deficit caused by spina bifida due to lesions at what spinal cord levels?
LATE hip dislocation is a deficit caused by spina bifida due to lesions at what spinal cord levels?
Knee EXTENSION contracture is a deficit caused by spina bifida due to lesions at what spinal cord levels?
*knee extension via quads (L2, L3, L4) is unopposed by paralyzed hamstrings (L5, S1)
DORSIFLEXION (calcaneous foot deformity) of the ankle is a deficit caused by spina bifida due to lesions at what spinal cord levels?
L4-L5 -lower lumbar

*Tibialis anterior (L4,L5,S1) may still be innervated while gastroc/soleus (S1,S2) are completely paralyzed
*Lower thoracic or upper lumbar = rigid club foot
What associated deficits will a patient with spina bifida that affects only the sacral levels (S1,S2,S3,S4) have?
1. Bowel and bladder dysfunction
2. Pes cavus foot due to intrinsic muscle denervation
3. Clawing of toes due to intrinsic muscle denervation

*plantar branches of tibial nerve innervate foot intrinsics
If a child has hydrocephalus at birth when does it become symptomatic?
During the first week of life
What is an Arnold-Chiari malformation?
ACM II: downward displacement of the medulla and brainstem through the foramen magnum with associated kinking of the brainstem.
If a child with spina bifida has an Arnold-Chiari malformation he/she likely has what type?
He/she also likely has what associated complication?
How do you typically treat hydrocephalus associated with spina bifida?
>80% of children require ventriculoperitoneal shunting with revision.

*revision in 1st yr =3-50%, 2nd yr = 50-75%, 5 yrs =100%
What are the two most common complications following shunting of a hydrocephalus associated with spina bifida?
2. obstruction
What correlation exists between the occurrence of hydrocephalus and the level that spina bifida occurs at?
Thoracic >> lumbar >> sacral

*the higher relative to the thoracic level the NTD lesion is, the more likely to develop hydrocephalus
Decompression of ACM II is sometimes necessary to halt the progression of what spina bifida associated complication?
forebrain & hindbrain malformations
A spina bifida patient that presents with progressive weakness, pain, urologic dysfunction, & possible scoliosis should be worked up for what spina bifida associated complication?
1. TETHERED CORD -can go undiagnosed for several years
2. Syringomyelia

*tethered = abnormal attachment of cord at distal end
*remember the bone growth in the spine outpaces the lengthening of the spinal cord so spinal cord normally ends at L1-L2 level
Syringomyelia usually occurs in what region of the spine?
What is the most frequent single cause of death in myelodysplasia?
central RESPIRATORY dysfunction
hypERtonic (spastic) bladder is most common in myelomeningocele patients that are affected at what region of the spine?

*contains SYMPATHETIC innervation, which serves to relax the bladder wall and constrict the neck (storage)
hypOtonic (flaccid) bladder is most common in myelomeningocele patients that are affected at what region of the spine?

*contains PARASYMPATHETIC innervation, which serves to contract the bladder wall and relax the neck (emptying)
#1 delayed self care task in myelomeningocele
independence with toileting (10-15 years old)
Patients with a myelomeningocele lesion ABOVE what level are capable of maintaining anal sphincter tone despite not having rectal sensation?

*lesions below this level destroy the spinal reflex arc that maintains tone to the anal sphincter at baseline
Why is the presence of a bulbocavernous or anocavernous reflex associated with a greater chance of bowel continence?
Indicates that the spinal reflex arc is INTACT

*lesions below L2 destroy the spinal reflex arc that maintains tone to the anal sphincter at baseline
Increased pressure on the HYPOTHALAMUS due to ACM II from myelomeningocele may cause what spina bifida associated complication?

*10-20% of myelomeningocele with hydrocephalus
What effect does hydrocephalus have on IQ?
Hydrocephalus alone does not exclude normal cognitive function. However, its complications,
such as repeated CNS complications with meningitis, can lead to significant deficit.
What correlation exists between IQ and the level that spina bifida occurs at?
When is neurosurgical repair of cystic lesions associated with spina bifida usually performed?
1st day of life
Routine screening intravenous pyelogram is recommended for those with myelomeningocele at what age?
2 years old

*Renal US should be performed at 2 WEEKS old to characterize anatomy (look for malformations)
RAPIDLY progressing SCOLIOSIS should prompt a workup for what spina bifida associated complication?
Spina bifida associated spinal deformities (scoliosis, kyphosis) occur most commonly in those with NTD lesions in what region of the spine?
A spina bifida patient presents with BILATERAL hip dislocation, how do you treat it?
You don't -best left alone if there is no restriction of joint motion

*unilateral you do want to treat as they can lead to asymmetric contractures, pelvic obliquity, decubiti, etc.
How severe can a knee flexion contracture get before it starts to significantly affect ambulation?
less than or equal to 20% (knee can extend to ~145 degrees)
What is one possible surgical treatment for a calcaneous foot?

Posterior transfer of TIBIALIS ANTERIOR

*performed at >5 yo
All spina bifida patients should be screened for what ALLERGY to what?

*59% of spina bifida patients have sensitivty to it
*500x increased risk of ANAPHYLAXIS in OR vs control
What levels of the spinal cord need to be spared in order for a child wit spina bifida to be able to SIT normally?
A patient with spina bifida may be able to use AFOs to assist in ambulation if what level is spared?
L3 - need to have intact knee extension
A child with spina bifida needs to be at least how old to start to learn how to cruch walk?
MENTAL age of 2-3 years old
In order for a patient with spina bifida to use a RECIPROCATING GAIT ORTHOSIS to aid in ambulation, what muscle action must be preserved?

*some lower lumbar spina bifida patients retain this (NTD lesion below L2)
Approximately what % of all thoracic, high lumbar, and low lumbar (<15 yo) achieve some degree of community ambulation

*15-31 yo low lumbar, 95% reach functional community ambulation
*100% of sacral lesions are able to reach functional community ambulation
Male sexual function is present in spina bifida patients with lesions below what level?

*Reproductive potential is related to LOWER and less severe lesions
SMA (spinal muscular atrophy) primarily affects what part of the motor unit?
ANTERIOR HORN CELL (cell body of motor neuron)
Hepatosplenomegaly is a common sign of what type of neuromuscular disease?

*acid maltase deficiency (Pompe's)
Typically how strong are plantarflexors compared to dorsiflexors?
Plantarflexors are SIX TIMES as strong as dorsiflexors

*explains why PLANTARFLEXION contractures of the are seen when both doriflexors & plantarflexors are dysfunctional
Name the 4 main categories of NEUROMUSCULAR DISEASE
1. Motor neuron disease
2. Peripheral neuropathy
3. NMJ disease
4. Myopathy
Which group of muscles exhibits weakness EARLIEST in DUCHENNE?
NECK FLEXORS -preschool age
In DUCHENNE which muscle group is typically weaker:
1. knee extensors vs. knee flexors
2. hip extensors vs. hip flexors
1. knee EXTENSORS are WEAKER (quads)
Dystrophin protein is found in what areas of the body?
1. Skeletal muscle
2. CARDIAC muscle
3. Brain
When do BECKER's patients typically lose the ability to ambulate?
Late teens

*duchenne patients are on average wheelchair bound by age 10
Which FACIAL muscles in FSH Dystrophy are characteristically spared?
- Extraocular muscles
- Masseter
- Temporalis
- Pharyngeal muscles

*Distinguished from Congenital Myotonic Dystrophy "Hatchet Face" = wasting of temporalis & masseter
Posterior & lateral scapular winging, high riding scapula, & hyperlordosis can be seen in association with what neuromuscular disease?
FacioSCAPULOhumeral Dystrophy

What is the gene locus affected by FSH dystrophy?
Deficiency in EMERIN leads to what neuromuscular disease?
Pattern of inheritance?
EMERY-dreifuss muscular dystrophy (EMD)
When does Emery-Dreifuss Muscular Dystrophy (EMD) usually present?
adolescence to early adulthood
Focal wasting of CALVES & BICEPS is characteristic of what neuromuscular disease?
What is the hallmark sign of this disease?
Emery-Dreifuss Muscular Dystrophy (EMD)

Early presence of ELBOW FLEXION CONTRACTURE -d/t wasting of biceps

*may also see heel cord tightness with plantarflexion contractures d/t wasting of calves, tight spine extensors limit cervical/thoracic flexion
Those with Emery-Dreifuss Muscular Dystrophy (EMD) also may have abnormalities of what other organ system?
CARDIAC -can be lifte threatening, may need pacer

*holter monitoring is sometimes necessary to detect abnormalities
Pattern of inheritance for LIMB GIRDLE MUSCULAR DYSTROPHY?
Age of onset?
Auto RECESSIVE or DOMINANT (wide spectrum of different genetic anomalies)
- onset varies from early childhood to adult

*Can present like Duchenne or Becker's but genetic defects are distinct (not at all related to Xp21).
What is the pattern of inheritance for MINICORE myopathy?

*CENTRAL core is auto DOMINANT, so think of MINI core as a smaller/mini/less dominant (ie, recessive) type of central core
What is the pattern of inheritance for Schwartz Jampel Syndrome?
What are some of its characteristic features?
- hypotonia
- diffuse BONE DISEASE
- micrognathia w/ flattened face

*nonprogressive congenital myotonic myopathy
What is the prognosis like for Transient Neonatal Myasthenia?
Self limited - resolution in approximately 2-3 weeks

*mother with MG transfers some of her Anti-ACh receptor Abs to neonate through placenta, but child eventually clears them, can also administer pyridostigmine/prostigmine
What is the pattern of inheritance for Congenital or Infantile Myasthenia?
Auto-RECESSIVE -but multifactorial

*AChR antibodies are ABSENT, mothers do not have MG in this case