Cerebral Palsy
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show | A clinical set of static encephalopathies linked by their expression of variable disabilities of movement/posture (*Not progressive)
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show | The concept that the brain has a limited number of ways of expressing itself (phenotype) when something goes wrong
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Common neurologic phenotypes | show 🗑
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show | 1. Cortical 2. Basal ganglia 3. Cerebellum 4. Long tracts 5. Anterior horn cells 5. Spinal cord 6. Peripheral nerves 7. muscles
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show | 1. MR 2. Epilepsy 3. Behavioral changes 4. Movement disorders
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show | Uncommon, prevalence 2/1000
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show | 86/1000
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Cases of CP in term infants | show 🗑
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show | has not decreased despite decades of improvement in prenatal/perinatal care
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show | Spastic quadraparesis (6%), Spastic diplegia (44%), Spastic monoplegia/hemiplagia (33%), ataxic/dyskinetic (12%)
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show | Only type associated with asphyxia in term infants (6%)
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Spastic diplegia | show 🗑
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show | A single limb is affected, not associated with asphyxia (33%)
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show | more discordinated movements, around 26 weeks HEI
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show | 20% prenatal, 35% prenatal and perinatal, 35% perinatal, 10% postnatal *Can acquire CP at any point in life
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show | Can identify etiology 75% of time (10% prenatal, 605 perinatal/neonatal, 30% not clear)
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CP Etiology: Term infants | show 🗑
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show | 70% of time, with only 20% being "medically preventable"
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show | 30% of the time, with only 6-10% being "medically preventable"
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show | 4
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Why is the pattern of CP seen in premature infants notably different than that seen in term babies? | show 🗑
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Premature viability is now seen at... | show 🗑
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Cerebellar anomalies... | show 🗑
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show | -A developmental disruption, -<1000g <26 weeks -Enlargement of posterior ventricles
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show | 1. Hypoxic-ischemic encephalopathy 2. Genetic syndromes 3. Chromosome anomalies 4. MCA without unifying diagnosis 5. Cerebral dysgenesis 6. Teratogenic 7. Metabolic disorders 8. Coagulopathies 9. Trauma 10. Slowly progressive neuromotor disorders
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HIE | show 🗑
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HIE must be associated with all 3 of the following perinatal events: | show 🗑
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show | 1. Defined as decreased APGAR's, fetal acidosis or both 2. Occurs in only 20% of all cases of CP (motor dysfunctions)
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Asphyxia can occur... | show 🗑
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Neonatal Neurologic Syndrome | show 🗑
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Neonatal neurologic syndrome (birth to 12 hours) | show 🗑
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show | 1. Stupor or coma 2. Respiratory arrest 3. Brainstem oculomotor and pupillary disturbances 4. Catastrophic deterioration with intraventricular hemorrhage (premature)
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NNS >72 hours | show 🗑
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NNS, when associated with clinically significant encephalopathy... | show 🗑
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Multi-organ system dysfunction | show 🗑
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show | 1. Evidence of fetal distress 2. Depression at birth 3. Neonatal Neurologic syndrome
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show | already compromised fetus
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show | Macrocrania without megalencephaly - Increased sizes of fluid filled spaces in the brain - subtle markers of cerebral dysgenesis - hypoplasia of the cerebellar vermis
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Sotos syndrome: Secondary CNS changes | show 🗑
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Etiology of CP | show 🗑
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Rett Syndrome: Expanded phenotype/females | show 🗑
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Rett Syndrome: Expanded phenotype/ males | show 🗑
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show | ARX mutations (esp. if infantile spasms) gene sequencing
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ARX mutations... phenotype spectrum | show 🗑
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show | fibroblast karyotype if the lymphocytic karyotype is normal
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Minor malformations are common in what % of CP... | show 🗑
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show | minor malformations
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show | 1. Fetal malformations, 2. Maternal MR, 3. Low Birth weight
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Subtle markers of Cerebral Dysgenesis | show 🗑
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show | 1. Serum 2. Urine
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show | Common: Factor V Leiden, Prothrombin (factor 2), hperhomocysteinemia, MTHFR Rare: Protein S or C deficiency, Abnormal antithrombin III, Dysfibrinoginemia... May account for 70-80% of all pathologic thrombi
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Coagulopathies: Clear relationship between hemiplegic CP and... | show 🗑
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Full coagulopathy workup if neuroimagining indications of | show 🗑
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Associated with increased incidence of adverse pregnancy outcomes... | show 🗑
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For coagulopathies, test... | show 🗑
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show | 1. Shaken infant 2. Spinal cord injury
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Etiology of CP: Progressive neuromuscular disease | show 🗑
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show | Several CP Genes recently identified by linkage but there is currently no clinical testing available
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Proposed work-up for CP: (3 tiers) First... | show 🗑
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show | 1. Karyotype 2. CGH 3. MECP-2 gene testing 4. Coagulopathy panel 5. Metabolic screening 6. Infectious titers **First two tiers give an 80% diagnostic yield***
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Proposed work-up for CP (3 tiers) Third... | show 🗑
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Diagnosis a disorder based on... | show 🗑
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show | Genotype!
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