Shared Etiology in Autism Spectrum Disorder and Epilepsy with Functional Disability

Overview

Journal Behav Neurol

Publisher Wiley

Specialty Psychiatry

Date 2022 May 9

PMID 35530166

Authors

Aqeela Zahra

Yunfu Wang

Qun Wang

Jianping Wu

Affiliations

Soon will be listed here.

Abstract

Autism spectrum disorders and epilepsies are heterogeneous human disorders that have miscellaneous etiologies and pathophysiology. There is considerable risk of frequent epilepsy in autism that facilitates amplified morbidity and mortality. Several biological pathways appear to be involved in disease progression, including gene transcription regulation, cellular growth, synaptic channel function, and maintenance of synaptic structure. Here, abnormalities in excitatory/inhibitory (E/I) balance ratio are reviewed along with part of an epileptiform activity that may drive both overconnectivity and genetic disorders where autism spectrum disorders and epilepsy frequently co-occur. The most current ideas concerning common etiological and molecular mechanisms for co-occurrence of both autism spectrum disorders and epilepsy are discussed along with the powerful pharmacological therapies that protect the cognition and behavior of patients. Better understanding is necessary to identify a biological mechanism that might lead to possible treatments for these neurological disorders.

Citing Articles

Treatment options in autism with epilepsy.

Cano-Villagrasa A, Moya-Faz F, Porcar-Gozalbo N, Lopez-Zamora M Front Child Adolesc Psychiatry. 2025; 3():1265081.

PMID: 39816614 PMC: 11731780. DOI: 10.3389/frcha.2024.1265081.

A missense mutation in the gene in a patient with autism spectrum disorder and epilepsy.

Capisizu A, Sandu C, Caragea R, Capisizu A J Med Life. 2025; 17(11):1023-1029.

PMID: 39781307 PMC: 11705475. DOI: 10.25122/jml-2024-0312.

Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD.

Lob K, Sawka D, Gaitanis J, Liu J, Nie D J Autism Dev Disord. 2024; .

PMID: 39136901 DOI: 10.1007/s10803-024-06512-1.

Aging Well and Autism: A Narrative Review and Recommendations for Future Research.

Klein C, Klinger L Healthcare (Basel). 2024; 12(12).

PMID: 38921321 PMC: 11203987. DOI: 10.3390/healthcare12121207.

A novel approach for ASD recognition based on graph attention networks.

Wang C, Xiao Z, Xu Y, Zhang Q, Chen J Front Comput Neurosci. 2024; 18:1388083.

PMID: 38659616 PMC: 11039788. DOI: 10.3389/fncom.2024.1388083.

References

Lee C, Hannay J, Hrachovy R, Rashid S, Antalffy B, Swann J . Spatial learning deficits without hippocampal neuronal loss in a model of early-onset epilepsy. Neuroscience. 2001; 107(1):71-84. DOI: 10.1016/s0306-4522(01)00327-x. View

Berkel S, Marshall C, Weiss B, Howe J, Roeth R, Moog U . Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010; 42(6):489-91. DOI: 10.1038/ng.589. View

Smalley S, Tanguay P, Smith M, Gutierrez G . Autism and tuberous sclerosis. J Autism Dev Disord. 1992; 22(3):339-55. DOI: 10.1007/BF01048239. View

Levisohn P . The autism-epilepsy connection. Epilepsia. 2007; 48 Suppl 9:33-5. DOI: 10.1111/j.1528-1167.2007.01399.x. View

Riedel G, Platt B, Micheau J . Glutamate receptor function in learning and memory. Behav Brain Res. 2003; 140(1-2):1-47. DOI: 10.1016/s0166-4328(02)00272-3. View

Hughes R, Poon W, Harvey A . Limited role for routine EEG in the assessment of staring in children with autism spectrum disorder. Arch Dis Child. 2014; 100(1):30-3. DOI: 10.1136/archdischild-2014-306400. View

Zhang G, Raol Y, Hsu F, Brooks-Kayal A . Long-term alterations in glutamate receptor and transporter expression following early-life seizures are associated with increased seizure susceptibility. J Neurochem. 2003; 88(1):91-101. DOI: 10.1046/j.1471-4159.2003.02124.x. View

Leclezio L, de Vries P . Advances in the treatment of tuberous sclerosis complex. Curr Opin Psychiatry. 2015; 28(2):113-20. DOI: 10.1097/YCO.0000000000000136. View

Swann J . The effects of seizures on the connectivity and circuitry of the developing brain. Ment Retard Dev Disabil Res Rev. 2004; 10(2):96-100. DOI: 10.1002/mrdd.20018. View

10.

Bartolini E, Campostrini R, Kiferle L, Pradella S, Rosati E, Chinthapalli K . Epilepsy and brain channelopathies from infancy to adulthood. Neurol Sci. 2019; 41(4):749-761. DOI: 10.1007/s10072-019-04190-x. View

11.

Chahrour M, Jung S, Shaw C, Zhou X, Wong S, Qin J . MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008; 320(5880):1224-9. PMC: 2443785. DOI: 10.1126/science.1153252. View

12.

Costa A, Lucchi C, Malkoc A, Rustichelli C, Biagini G . Relationship between Delta Rhythm, Seizure Occurrence and Allopregnanolone Hippocampal Levels in Epileptic Rats Exposed to the Rebound Effect. Pharmaceuticals (Basel). 2021; 14(2). PMC: 7914513. DOI: 10.3390/ph14020127. View

13.

Buono R, Bradfield J, Wei Z, Sperling M, Dlugos D, Privitera M . Genetic Variation in on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy. Genes (Basel). 2021; 12(9). PMC: 8472138. DOI: 10.3390/genes12091441. View

14.

Valente K, Koiffmann C, Fridman C, Varella M, Kok F, Andrade J . Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13. Arch Neurol. 2006; 63(1):122-8. DOI: 10.1001/archneur.63.1.122. View

15.

Bender A, Natola H, Ndong C, Holmes G, Scott R, Lenck-Santini P . Focal Scn1a knockdown induces cognitive impairment without seizures. Neurobiol Dis. 2013; 54:297-307. PMC: 3628954. DOI: 10.1016/j.nbd.2012.12.021. View

16.

Tuchman R, Rapin I . Epilepsy in autism. Lancet Neurol. 2003; 1(6):352-8. DOI: 10.1016/s1474-4422(02)00160-6. View

17.

Wolff M, Casse-Perrot C, Dravet C . Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia. 2006; 47 Suppl 2:45-8. DOI: 10.1111/j.1528-1167.2006.00688.x. View

18.

Zappella M . Autism and hypomelanosis of Ito in twins. Dev Med Child Neurol. 1993; 35(9):826-32. DOI: 10.1111/j.1469-8749.1993.tb11734.x. View

19.

Sierra-Arregui T, Llorente J, Minguez P, Tonnesen J, Penagarikano O . Neurobiological Mechanisms of Autism Spectrum Disorder and Epilepsy, Insights from Animal Models. Neuroscience. 2020; 445:69-82. DOI: 10.1016/j.neuroscience.2020.02.043. View

20.

Peters S, Beaudet A, Madduri N, Bacino C . Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004; 66(6):530-6. DOI: 10.1111/j.1399-0004.2004.00362.x. View