What is myelodysplasia?
- A prenatal diagnosis, characterized by a defect in development of any part of the spinal cord.
- Occurs in 0.4-0.9 per 1,000 individuals in the US
Myelodysplasia is the result of what pathology?
- Myelomeningocele: an opening in the spine that breaks through the integument and presents as a fluid filled sac
- Myelomeningocele is also referred to as Spina Bifuda.
- Spina Bifuda Aperta = “open”
- Spina Bifuda Occulta = “closed”
What are some impairments associated with Myelodysplasia? (Will discuss in depth on other cards)
- Contractures in the LE
- Common postural problems - individuals are more flexible until skeletal maturity (FH, RS, kyphosis, scoliosis, etc.)
- Osteoporosis
- Motor paralysis: defined by the motor level, lowest intact neurological functional segment, and can be complete or incomplete
- Hydrocephalus
- Sensory deficits
- Upper limb dyscoordination
- Cognitive dysfunction
- Muscle tone abnormalities
- Other (skin breakdown, neurogenic bowel, bladder, and seizures)
What are some postural abnormalities in individuals with Myelodysplasia?
- FH, RS, kyphosis, scoliosis, lordosis, rotational deformities of the hip, flexed hips and knees, and ankle & foot deformities
How can one address postural problems with individuals with Myelodysplasia?
- Positioning Interventions: avoid habitual sleeping & sitting postures; anticipate future muscle imbalances
- Orthotics: obtain subtalar neutral while fitting for ankle and foot orthotics
- Refer for surgery if severe
What are the 2 types of Hydrocephalus related to Myelodysplasia?
- Communicating/ non-obstructive - impaired CSF resorption in the absence of obstruction between ventricles and the sub-arachnoid space
- Obstructive - due to mass or external compression
Identify what structures will be affected due to obstructive hydrocephalus if the following structures were impaired:
- Foramen of Monro
- Aqueduct of Sylvius
- 4th Ventricle
- Foramina of Leushka and Magendie
- Foramen of Monro - affects both lateral ventricles
- Aqueduct of Sylvius - affects both lateral ventricles and the 3rd ventricle
- 4th Ventricle - affects aqueduct of sylvius, lateral ventricles and 3rd ventricle
- Foramina of Leushka and Magendie - can affect all of the aforementioned
What is the most common shunt utilized during hydrocephalus?
- Ventriculo-peritoneal shunt (VP)
What is an Arnold-Chiari malformation?
- cerebellar hypoplasia due to caudal displacement of the hindbrain into the foramen magnum causing hydrocephalus
What is Dandy-Walker syndrome?
- a congenital brain malformation involving the cerebellum and the fluid filled spaces around it.
- a KEY FEATURE is the partial or complete absence of the vermis
- occurs in 1/25,000 births, mostly female
What are some signs of shunt dysfunction?
- change in speech, headache, decreased activity level, decreased grip strength, and upwards doll’s eye sign
What are the symptoms of unshunted hydrocephalus?
Enlarged head, but normal face. Pt has difficulty with head control, frontal bossing and “sundown eyes”
What is cocktail party syndrome?
- a cognitive dysfunction, characterized by the overuse of cliches and the inappropriate use of jargon. They appear to have high verbal skills, but their performance is actually limited.
What are the sensory deficits associated with myelodysplasia?
- decreased kinesthesia - pt relies heavily on vision
- skin inspection and pressure relief techniques must be taught (along with limb and joint protection techniques)
What is cord tethering?
An adhesion to the spinal cord and the surrounding tissues that prevents the cord from normal growth. Pt presentation: inexplicably irritable
What are some secondary impairments associated with High Level Lesions (T12-L2) of myelodysplasia?
- Hip flexion, abduction and external rotation contractures
- Knee flexion contractures
- Ankle plantarflexion contractures
- Lumbar lordosis
What are some secondary impairments associated with Mid to Low Lumbar Lesions (L3-L5) of myelodysplasia?
- Hip and knee flexion contractures
- Lumbar lordosis
- Genu valgum
- Calcaneal valgus and pronated feet
- Crouched gait
What are some secondary impairments associated with Low Level Lesions (sacral) of myelodysplasia?
- MILD hip and knee flexion contractures
- lumbar lordosis
- calcaneal valgus or varus
- MILD crouched gait
What were some key findings in the Management of Myelomeningocele (MOMS) study?
- Babies who underwent fetal repair of spina bifida were half as likely to need a ventricular shunt
- Arnold-chiari formation was less common in fetal repair group
- Standardized test scores for motor skills were superior in the fetal surgery group, and 2x as many children were walking independently by 30 months of age (compared to postnatal surgery
