Autism and epilepsy: Historical perspective
Abstract
Autism spectrum disorders (ASD) and epilepsy co-occur in approximately 30% of individuals with either ASD or epilepsy. While there is no single unifying ASD-epilepsy phenotype, understanding potential commonalities in subgroups of children with an ASD-epilepsy phenotype will help us disentangle the pathophysiology of both ASD and epilepsy. Throughout this brief historical perspective we selectively review critical trends in ASD-epilepsy research and highlight challenges to clinical and research efforts including terminology, heterogeneity of both ASD and epilepsy, and lack of careful characterization of children affected with both ASD and epilepsy. These complex issues continue to burden research on the diagnosis, neurobiology and management of children with ASD and epilepsy. A key concept that has emerged during the past 40 years is the strong association between intellectual disability and a higher prevalence of epilepsy in individuals with ASD. In addition, the two peaks of seizure onset, one in early childhood and one in adolescence and continuing through adulthood may be unique to individuals with ASD. The overlap of language and autistic regression to epilepsy, EEG epileptiform activity, sleep, and to epileptic encephalopathies such as Landau-Kleffner syndrome continue to be controversial areas of research and of clinical interest. An emerging consensus is that shared developmental genetic, molecular and pathophysiological mechanisms exist and account for the common co-occurrence of ASD and epilepsy.
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Mixed findings may be the result of variability in how regression is operationalized across studies and challenges when parents confuse plateauing skills with regression.
“These mixed findings may be the result of variability in how regression is operationalized across studies [59] and the challenges that arise when parents confuse plateauing skills with regression [71,72].”
From DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes (2013) · cites this paper as [59]
Four specific types of regression patterns have been suggested: regression in language skills, regression in language and social skills, regression in motor or adaptive functioning skills, or unspecified regression.
“Four specific types of regression patterns have been suggested: regression in language skills, regression in language and social skills, regression in motor or adaptive functioning skills, or unspecified regression [59].”
From DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes (2013) · cites this paper as [59]
About 30% of individuals with ASD display regressive onset profiles, usually occurring around 18 months of age.
“According to a recent meta-analysis of 85 studies, about 30% of individuals with ASD display regressive onset profiles, usually occurring around 18 months of age [59].”
From DSM-5 and autism spectrum disorders (ASDs): an opportunity for identifying ASD subtypes (2013) · cites this paper as [59]
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- Authors
- Tuchman, R., Cuccaro, M., & Alessandri, M.
- Affiliations
- University of Miami (US)
- Corresponding author
- Tuchman, Roberto
- Venue
- Brain and Development
- Publisher
- Elsevier BV
- Published
- 2010-10
- Volume
- 32
- Issue
- 9
- Pages
- 709-718
- ISSN
- 0387-7604 (ISSN-L)
- OpenAlex
- W2014149482
- Cited by
- 172
- References
- 9
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 7 · 2023: 6 · 2022: 9 · 2021: 12 · 2020: 9 · 2019: 10 · 2018: 9 · 2017: 8 · 2016: 10 · 2015: 21 · 2014: 19 · 2013: 13 · 2012: 18
- FWCI
- 1.07
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain and Development (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- autism spectrum disorder, epilepsy, intellectual disability, seizure onset, autistic regression, Landau-Kleffner syndrome, sleep, pathophysiology
- MeSH terms
- Autistic Disorder, Electroencephalography, Epilepsy, Humans, History, 20th Century, History, 21st Century
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