Flashcards in Pediatrics CP, Spina Bifida, Genetic Disorders (Exam 3) Deck (58):
Condition caused by injury to the parts of the brain that control muscles and various body functions. Example: Before birth, during delivery, after birth.
Stiff, irregular movements, uncontrolled body movements, Excessive drooling and difficulties in swallowing or speaking.
Signs of CP
Intrauterine development, exposed to infection, diabetes, or toxemia, RH incompatibility, brain maldevelopment.
Before Birth CP
Anoxia, prolapsed umbilical cord from breech, prematurity, low birth weight.
Cerebral hemorrhage, trauma, infection, anoxia.
After Birth CP
Involvement in entire body. All four extremities.
Two extremities involved.
One side of the body effected.
Without tone, floppy infants.
A continuous succession of slow, writhing, involuntary, movements of the hands, feet, and other body parts (non-purposeful).
Most common type of tone. Increased resistance to passive movement, may not be affected by the speed of movement.(Hypertonous)
Uncommon. Deeper areas of the brain rather than the cortex.
Disordered movement. Difficulty moving.
Loss of coordination resulting from damage to the cerebellum.
Dorsal roots cut to decrease synaptic, afferent activity within the spinal cord which decreases spasticity.
Posterior Rhizotomy (CNS)
Pump allows direct delivery of the medication into the spinal fluid. Decreases spasticity.
Spinal defect with an external sac protruding through a defect vertebrae which contains meninges and spinal cord. Neural tube doesn't completely close.
A condition where there is a confusion of vertebral arches but no disturbance of neural tissue.
Spina Bifida Occulta
1 in 1000 live births.
Incidence of Spina Bifida
A abnormal accumulation of CSF in cranial vault.
Deformity of cerebellum, medulla, and cervical spinal cord.
Arnold-Chiara Type II Malformation
Lower trunk weakness. Difficult with sitting balance. Depressed respiratory function.
Active hip flexors and adductors. At risk for hip dislocation. Household ambulation with KAFOs and UE support. Ambulation aids. Wheelchair for community.
High Lumbar Lesion (L1 - 3)
Strong hip flexion and adduction. Anti-gravity knee extension present. Weak hip rotation. Household ambulation with assistive devices. KAFOs and forearm crutches. Wheelchair as adults and for community use.
Mid Lumbar Lesion L3
Functional ambulation with AFOs and forearm crutches. Maintain alignment of joints during weight bearing to eliminate stress on UE and LEs.
May ambulate without orthoses. May need orthoses to stabilize alignment and facilitate push-off. Bilateral UE support. Uneven terrain difficult.
Greater balance of muscle strength at hip and knee. Hip extension partial to full. Gastric/Soleus may be weak. AFOs used to stabilize ankle. Mid gait deviations likely. Tendon lengthening may be necessary.
Sacral Level Paralysis
Improved hip stability. Ambulation without orthoses and UE support. Weak push-off for running and stair climbing. Fewer foot deformities occur. May use AFOs to promote alignment.
No loss levels. Decreased push-off and stride length in fast walking/running. Bowel and bladder function normal. LE strength normal. Foot orthosis help to maintain subtalar neutral and optimize function.
S2, S3 Levels
Prevent hip flexion contracture. Promote head control.
Midline orientation of head. Bilateral LE function. Rotation/Disassociation of limbs and trunk.
Stimulate balance. Promote head and trunk control.
Leading chromosomal cause of mental retardation. Most frequently reported birth defect. 1 in every 700. Caused by genetic imbalance extra 21st chromosome.
Down Syndrome (Trisomy 21)
Slow motor development. IQ 25-50. Low tone.
Clinical Signs of Down Syndrome
Arm of chromosome 5 deleted. Mental retardation. Cry of a Cat. Microcephaly(Small Head).
Partial deletion of chromosome 15. Clinical Features: Obesity, Underdeveloped gonads, short stature, hypotonia, mild to moderate retardation, obsessed with food at age of 2.
Multiple joint contractures.
Arthorogyposis Multiple Congenita
Autosomal Dominant Disorder. Brittle bones. Short Statue. Bowing of long bones. Average or above average intelligence.
Type I Osteogenesis Imperfecta
Mild to moderate. Mildest Form.
Type II Osteogenesis Imperfecta
In utero contractures. Most severe. Lethal.
Type III Osteogenesis Imperfecta
Type IV Osteogenesis Imperfecta
Moderately severe fragility. More severe than Type I.
Autosomal recessive disorder on chromosome 7. Pancreas does not secrete enzymes to break down fat and enzymes. Respiratory compromise due to abnormally thick mucus build up in lungs. Build-up creates chronic obstructive lung disorder.
Progressive disease of nervous system. Autosomal Recessive Trait.
Spinal Muscular Atrophy (SMA)
Most physically devastating. Birth "frog legged" lower extremity and weak cry. Absent DTR. Normal intelligence. Progressive motor weakness. Death occurs from respiratory compromise. Adaptive equipment for positioning.
Type I Acute Infantile SMA
Later onset 2-18 months. Proximal weakness. Scoliosis is a problem due to weak trunk and can compound pulmonary problems.
Type II Chronic Childhood SMA
Onset 18 months. Less involved form. Onset can be between 2-15 years. Proximal weakness hips, knees, trunk. Gait slow and waddling. Bilateral trendelenburg. Good upper extremity strength. Progression is slow.
Type III Kugelberg-Welander SMA
Genetic cause of mental retardation. Missing an enzyme that converts phenylalanine to tyrosine. Too much phenylalanine causes mental and growth retardation. If caught early the child will not develop mental retardation or any of the other neurological signs.
X-Linked recessive seen only in boys. Females can be carriers. Develop motor skills normally. 3-5 years of age notice difficulty with coming to stand or going up and down stairs. Gower maneuver.
Duchenes Muscular Dystrophy (DMD)
Come to stand by pushing on thighs to achieve standing position.
Lack of the gene that produces the muscle protein dystrophin. Absence of the protein weakens the cell membrane and leads to destruction of muscle fibers. Calves present pseudohypertorphy. Develop cardiomyopathy. Death before age 25.
Duchenes Muscular Dystrophy (DMD)
Onset of symptoms between 5-10 years Boys X-Linked. Rarer than DMD. Lower incidence of mental retardation. Progression of disorder much slower. Longer life expectancy.
Becker Muscular Dystrophy (BMD)
Mental retardation. Poor coordination. Generalized decrease in muscle tone. Enlarged testes. Unusual facial expressions. Joint hyper mobility. Flatfoot. More severe in boys than girls.
Fragile X Syndrome (Martin Bell Syndrome)
Mental retardation. Ataxia. Growth retardation. Brain growth is reduced. Early development normal, symptoms appear during first year. Hand wringing.