Historically, epilepsy and other common neurological disorders such as autism have been described based on their clinical features. They were grouped this way to assess response to treatment and to aid in diagnosis. In the modern era, genetics increasingly plays a role in determining these disorders’ etiology and influencing treatment decisions.
For children with autism spectrum disorder, a chromosomal microarray analysis is indicated as part of the initial diagnostic evaluation for all children. Additionally, other clinical features may guide further genetic testing in those with autism spectrum disorders (ASDs). Examples include: Fragile X testing, which is indicated for boys with ASD, MECP2 sequencing, which is indicated for girls with ASD, and PTEN mutation testing for children with ASD and macrocephaly. Further genetic testing can be performed, if indicated, after these baseline studies have been completed (1,2).
In epilepsy, copy number variations play an important role. In many types of epilepsy, copy number variation can define the underlying etiology. In light of this, chromosome microarray analysis is indicated in the evaluation of unexplained epilepsy, even if it appears to be a primary generalized epilepsy. (3)
1. Graf WD, Miller G, Epstein LG, Rapin I. The Autism “Epidemic”. Neurology, 2017; 88 (14): 1371-1380.
2. Jeste SS, Schor NF. Autism Today. Neurology, 2017; 88(14): 1303-1304.
3. Olson H, Shen Y, Aballone J, Sheidley BR et al. Copy number variation plays an important role in clinical epilepsy. Ann Neurol, 2014; 75(6): 943-958.