Figure 4. Proposed Framework for the Genetic Evaluation of an Individual With Cerebral Palsy (CP).

^aRed flags raising the possibility of a genetic disorder include: absence of perinatal risk factors; consanguinity; more than 1 affected family member; progressive or regressive course (not initially apparent but eventually apparent after the diagnosis of CP); presence of congenital anomalies; dysmorphic features; normal brain magnetic resonance imaging (MRI) findings; unexplained biochemical/metabolic disturbances; and mismatch between perinatal history, brain MRI, and motor phenotype/severity (such as prematurity at 36 weeks with minimal neonatal intensive care course yet severe spasticity and intellectual disability; globus pallidus signal changes yet spastic diplegia phenotype). Diagnosis may lead to further action, such as enrollment in research registries and/or clinical trials, genetic counseling, and specific management changes. CMA indicates chromosomal microarray; CNV, copy number variant; ES, exome sequencing; WGS, whole-genome sequencing.