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Review
. 2015 Jun:47:191-201.
doi: 10.1016/j.yebeh.2015.03.017. Epub 2015 Apr 19.

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Bo Hoon Lee  1 , Tristram Smith  2 , Alex R Paciorkowski  3
Affiliations
Review

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Bo Hoon Lee et al. Epilepsy Behav. 2015 Jun.

Abstract

There is an increasing recognition of clinical overlap in patients presenting with epilepsy and autism spectrum disorder (ASD), and a great deal of new information regarding the genetic causes of both disorders is available. Several biological pathways appear to be involved in both disease processes, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. We review several genetic disorders where ASD and epilepsy frequently co-occur, and we discuss the screening tools available for practicing neurologists and epileptologists to help determine which patients should be referred for formal ASD diagnostic evaluation. Finally, we make recommendations regarding the workflow of genetic diagnostic testing available for children with both ASD and epilepsy. This article is part of a Special Issue entitled "Autism and Epilepsy".

Keywords: Autism; Autism spectrum disorder; Epilepsy; Genetic testing.

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Conflict of interest statement

Disclosures

The authors have no financial conflicts of interest to disclose.

Figures

Figure 1
Figure 1
Overview of biological pathways common to autism and epilepsy. At least four biological pathways important in neuronal development and function are implicated by involvement of several genes in autism and epilepsy pathogenesis. These pathways include transcriptional regulation (FOXG1, MECP2, MEF2C), cellular growth (PTEN, TSC1, TSC2), synaptic channels (SCN2A), and synaptic structure (CASK, CDKL5, FMR1, SHANK3).
Figure 2
Figure 2
Suggested workflow for evaluation of epilepsy patients who may be at risk for autism. A patient with epilepsy should be screened for impairment in language, social development, and/or behavior. If warranted, the patient should be referred to a trained expert in autism diagnosis. If a diagnosis of autism is confirmed, or if significant other developmental concerns exist (i.e. intellectual disability), genetic evaluation is appropriate. The clinical genetic evaluation for autism and epilepsy may have overlap, and may be tailored by recognition of conditions detailed in this paper where autism and epilepsy overlap. Current clinical genetic evaluation includes sequentially chromosomal microarray (CMA), autism and epilepsy next-generation sequencing gene panels, and if necessary, whole exome sequencing (WES).
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References

    1. Salpekar JA, Mishra G. Key Issues in Addressing the Comorbidity of Attention Deficit Hyperactivity Disorder and Pediatric Epilepsy. Epilepsy Behav. 2014;37C:310–5. - PubMed
    1. Taft LT, Cohen HJ. Hypsarythmia and infantile autism: a clinical report. J Autism Child Schizophr. 1971;3:327–36. - PubMed
    1. Knobloch H, Pasamanick B. Some etiologic and prognostic factors in early infantile autism and psychosis. Pediatrics. 1975;2:182–91. - PubMed
    1. Deykin EY, MacMahon B. The incidence of seizures among children with autistic symptoms. Am J Psychiatry. 1979;10:1310–2. - PubMed
    1. Riikonen R, Amnell G. Psychiatric disorders in children with earlier infantile spasms. Dev Med Child Neurol. 1981;6:747–60. - PubMed

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