Genetics of Cerebral Palsy Flashcards
What is the approximate incidence of cerebral palsy?
~1 in 500 births
What are the different categories of CP?
spastic (80-90%), dyskinetic (6%), ataxic (5%), mixed types
What is the test for scoring motor function?
GMFCS (Gross Motor Function Classification System)
What are impairments associated with CP?
ability to walk/talk/see/sleep, pain, epilepsy, behavioral problems, intellectual disability, bladder control problems, saliva control problems
What is the MRI finding periventricular leukomalacia (PVL) associated with?
Preterm birth; spastic diplegia or quadriplegia
What is the MRI finding hypoxic-ischemic encephalopathy associated with?
Term birth but usually some kind of injury like lack of oxygen or something like that; dyskinetic CP
What are maternal CP risk factors?
epilepsy, thyroid disease, smoking advanced maternal age
What are prenatal risk factors of CP?
infection, placental abnormalities, twin gestation, preeclampsia
What are perinatal risk factors of CP?
preterm birth, prolonged delivery, breech presentation, hypoxia
What are postnatal risk factors of CP?
Stroke, head trauma, meningitis
What is the approximate diagnostic yield for exome sequencing/CP?
23%
What is notable about the genes related to CP and other conditions?
A huge overlap was seen among genes that contributed to CP with intellectual disability, epilepsy, and autism spectrum disorder
What is the diagnostic yield for microarray/CP?
5%
What factors increase the likelihood of returning a genetic diagnosis?
No MRI findings and absence of all other risk factors
Why might understanding the etiology of CP be important?
Changes in management, understanding recurrence risks, developing treatments, understanding natural history/prognosis, getting the correct referrals/resources, for support,
