Pediatric Myelodysplasia Note Taking Guide PDF

Slide Deck 2.2: Myelodysplasia Birth defect, develops when spinal cord does not close during early stages of mother's pregnancy Causes physical and intellectual disabilities Congenital spina bifida (split spine)-occulta and aperta Characterized by varying degree of incomplete closure of the embryoni...

Slide Deck 2.2: Myelodysplasia Birth defect, develops when spinal cord does not close during early stages of mother's pregnancy Causes physical and intellectual disabilities Congenital spina bifida (split spine)-occulta and aperta Characterized by varying degree of incomplete closure of the embryonic neural tube various forms of myelodysplasia 4 Types: SB- spina bifida Meningocele – mildest form; CSF & meninges protrude through abnormal vertebral opening S in lump or “cyst”; no spinal cord involvement S Myelomeningocele (MM): more severe, most common form; protrusion of spinal cord , CSF, spina bifida cystica -bc cystic sac & meninges in cyst through vertebral opening; sometimes skin is absent & Myeloschisis: most severe form; spinal cord is fully exposed and a cleft forms in the spinal cord when the neural fold fails to close during neural tube development Occulta (hidden or not visible): often asymptomatic; mild -10 % of ppl, L5-S1 area closed Pathophysiology: Damage to anterior horn cells, nerve roots, or peripheral nervous system LB most common Lower motor neuron dysfunction, damage to brain & corticospinal or pyramidal tracts location Can lead to loss or impairment of function below lesions level Paralysis or muscle weakness, loss of sensation, impaired bowel and bladder function Etiology causes Abnormal neurulation (folding of the ectoderm; abnormalities cephalad to S2) -LB Neural tube closure occurs simultaneously in cephalad and caudal directions -failure to close Genetics: MM arises from genetic and environmental factors Teratogens: alcohol, anticonvulsant medication, pregestational diabetes --> all increase risk Nutritional Deficiencies: Primary prevention strategy: folic acid periconceptually -SDOH; a lot of places will offer free prenatal Incidence and Prevalence vitamins Dx around 18 weeks gestation ~around 1st ultrasound Outcomes: termination of pregnancy or c- section prior to rupture of amniotic membranes Dramatically decreased over past 20 years due to recommendations for increased intake of folic acid by women during reproductive years -incidence in US: 3.05 per 10,000 in 2006 Impairments -affects 1,500 to 2,000 babies born in the US yearly Osteoporosis Motor paralysis Sensory deficits Hydrocephalus Learning disability Language dysfunction Upper limb coordination Latex allergy -gloves, bands, NOOO ballons Obesity Cranial nerve palsies ** be careful w shldr girdle in this community bc sci Spasticity Progressive neurologic dysfunction Seizures Neurogenic bladder Skin breakdown (pressure sores) Musculoskeletal Deformities /Postural deviations (MM) Contractures (MM) -WB, lower leg fxn, participation Impairments: Postural Deviations and Contractures Based on Lesion Levels LESION LEVEL POSTURAL DEVIATIONS AND CONTRACTURES High-level (thoracic to L2) Hip flexion, abduction, and external rotation contractures Knee flexion and ankle plantar flexion contractures Lordotic lumbar spine Crouched standing Mid to lower lumbar (L3L5) Hip and knee flexion contractures Increased lumbar lordosis Genu and calcaneal valgus malalignment Pronated position of the foot when weight-bearing Crouched standing Sacral level Mild hip and knee flexion contractures Increased lumbar lordosis Ankle & foot can be varus or valgus, combined with pronated or supinated forefoot Crouched standing Associated Conditions Hydrocephalus: often requires a shunt Chiari malformation type II: movement of brainstem caudally through foramen magnum Comorbidity Symptoms Shunt Malfunction Headache, irritability, fever, nausea, vision or speech changes, changes in balance and postural stability Chiari malformation type 2 Ataxia, changes in bowel and bladder control, spasticity (hypertonicity), and in upper extremity function Tethered cord syndrome Progressive loss of strength or sensation, changes in bowel or bladder function, changes in functional mobility & gait pattern, back or LE pain, changes in spasticity, loss of ROM, changes in foot positioning or progression of deformity CLOSE monitoring Summary: Definition Etiology -Sac containing spinal fluid, meninges, and neural tissue protrudes through a posterior opening of spinal vertebra -Exact cause unknown; a combination of genetics and environment may contribute -Appears to be relationship between inadequate vitamin and folic acid intake and neural tube defects Alterations in Body Functions and Structures -Diminished or absent trunk/lower extremity (LE) sensation -Decreased or absent trunk/LE strength -Impaired bowel and bladder control -Changes in posture and alignment -Decreased balance -Possible poor motor control Potential Activity Limitations and Participation Restrictions -Decreased mobility and transfers -Decreased walking long distances -Decreased activity tolerance, for example, running -Decreased ability to maintain sustained active play with peers or family -Decreased participation in organized sports and active recreation activities Potential Management -Initial medical management following birth will include closure of neural sac followed by observation and assessment of hydrocephalus with implantation of VP shunt if appropriate -bowel/bladder program -PT intervention: strengthening innervated muscles, teaching compensatory patterns of movement, functional exercise and electrical stimulation, and providing assistive/adaptive equipment for mobility -Prevent secondary complications (i.e contractures, scoliosis, & pressure ulcers) -Lifelong fitness and family education Summary Birth defect, incomplete closing of spine & membranes around spinal cord in early pregnancy 3 main types: spina bifida occulta, meningocele and myelomeningocele Occulta: no or only mild signs, may include hairy patch, dimple, dark spot or swelling on back Meningocele and myelomeningocele may be grouped as spina bifida cystica Meningocele causes mild problems, with a sac of fluid present at gap in spine Associated with poor ability to walk, impaired bladder or bowel control, hydrocephalus, latex allergy