Epilepsy in autism

Tuchman, Roberto; Rapin, Isabelle

doi:10.1016/s1474-4422(02)00160-6

Cited by 637 publications

(443 citation statements)

References 88 publications

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“…The rates of epilepsy among individuals with ASD in this sample are notably lower than rates typically reported in the ASD population. Previous studies have reported epilepsy rates among individuals with ASD of between 5% and 40% (Tuchman and Rapin, 2002). The rate reported here of 2 out of 100 (2%) is more in keeping with rates in the general population (2.9%; U.S. Department of Health and Human Services, 2007) and very low for typical ASD samples.…”

Section: Discussionsupporting

confidence: 73%

Demographic and Cognitive Profile of Individuals Seeking a Diagnosis of Autism Spectrum Disorder in Adulthood

Happé

Mansour

Barrett³

et al. 2016

J Autism Dev Disord

108

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Section: Discussionsupporting

confidence: 73%

Demographic and Cognitive Profile of Individuals Seeking a Diagnosis of Autism Spectrum Disorder in Adulthood

Happé

Mansour

Barrett³

et al. 2016

J Autism Dev Disord

108

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“…The prospective follow-up of these siblings later diagnosed with ASD has led to the observation that some behavioral abnormalities can appear very early on (e.g.,, sensory issues [e.g., extreme responses to certain sounds/textures, fascination with lights/spinning objects] are already present at 7 months of age), others emerge at 12-14 months (e.g., disengagement of visual attention), while the bulk of more typical autistic abnormalities has an onset between 14 and 24 months [45][46][47][48]. Frequently, comorbid conditions include intellectual disability (65 %), seizures (30 %), and different forms of sleep problems [49][50][51]; less recognized, but equally impairing, are frequent psychiatric comorbidities, that include anxiety disorders, obsessive-compulsive disorders, and depression [52]. Altered neurodevelopment during early pregnancy represents the neuropathological cause of ASD [53,54].…”

Section: Autism Spectrum Disorder: Clinical Traits Neuropsychologicamentioning

confidence: 99%

Endocannabinoid Signaling in Autism

et al. 2015

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Autism spectrum disorder (ASD) is a complex behavioral condition with onset during early childhood and a lifelong course in the vast majority of cases. To date, no behavioral, genetic, brain imaging, or electrophysiological test can specifically validate a clinical diagnosis of ASD. However, these medical procedures are often implemented in order to screen for syndromic forms of the disorder (i.e., autism comorbid with known medical conditions). In the last 25 years a good deal of information has been accumulated on the main components of the Bendocannabinoid (eCB) system^, a rather complex ensemble of lipid signals (Bendocannabinoids^), their target receptors, purported transporters, and metabolic enzymes. It has been clearly documented that eCB signaling plays a key role in many human health and disease conditions of the central nervous system, thus opening the avenue to the therapeutic exploitation of eCB-oriented drugs for the treatment of psychiatric, neurodegenerative, and neuroinflammatory disorders. Here we present a modern view of the eCB system, and alterations of its main components in human patients and animal models relevant to ASD. This review will thus provide a critical perspective necessary to explore the potential exploitation of distinct elements of eCB system as targets of innovative therapeutics against ASD.Key Words Autism spectrum disorder . endocannabinoid system . fragile X syndrome . metabolic regulation . reward system The Endocannabinoid SystemTwenty-five years after the cloning and expression of a complementary DNA that encoded a G protein-coupled receptor, named type-1 cannabinoid (CB 1 ) receptor [1], there is a good deal of information on the main components of the so-called Bendocannabinoid (eCB) system^, as well as on its role in controlling cannabinergic signaling in human health and disease [2][3][4]. Anandamide (AEA) and 2-arachidonoylglycerol (2-AG) are the most active eCBs as yet identified, although this family of bioactive lipids includes other arachidonic acid (AA) derivatives with cannabimimetic properties (i.e., noladin ether, virodhamine, N-arachidonoyldopamine, to name but a few). The classical dogma that eCBs are synthesized and released Bon demand^upon (patho)physiological stimuli has been recently revisited on the basis of unexpected evidence for intracellular reservoirs and transporters of eCBs. These new entities have been shown to drive intracellular trafficking of eCBs, adding a new dimension to the regulation of their biological activity [5]. To date, several metabolic routes have B. Chakrabarti, A. Persico and N. Battista are equal first authors.

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“…2,3 Other abnormalities include high prevalence of mental retardation, with rate estimates of 40-55% or higher, 4,5 and co-morbid epilepsy, observed in approximately 30% of autistic subjects. 6 These symptoms underscore the catastrophic consequences of the genetic inheritance for brain function and behavior. Disease etiology is thought to involve an interaction between genetic susceptibility, mediated by multiple genes, and possible environmental factors, leading to aberrant neurodevelopment.…”

Section: Introductionmentioning

confidence: 99%

Advances in behavioral genetics: mouse models of autism

2007

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Autism is a neurodevelopmental syndrome with markedly high heritability. The diagnostic indicators of autism are core behavioral symptoms, rather than definitive neuropathological markers. Etiology is thought to involve complex, multigenic interactions and possible environmental contributions. In this review, we focus on genetic pathways with multiple members represented in autism candidate gene lists. Many of these pathways can also be impinged upon by environmental risk factors associated with the disorder. The mouse model system provides a method to experimentally manipulate candidate genes for autism susceptibility, and to use environmental challenges to drive aberrant gene expression and cell pathology early in development. Mouse models for fragile X syndrome, Rett syndrome and other disorders associated with autistic-like behavior have elucidated neuropathology that might underlie the autism phenotype, including abnormalities in synaptic plasticity. Mouse models have also been used to investigate the effects of alterations in signaling pathways on neuronal migration, neurotransmission and brain anatomy, relevant to findings in autistic populations. Advances have included the evaluation of mouse models with behavioral assays designed to reflect disease symptoms, including impaired social interaction, communication deficits and repetitive behaviors, and the symptom onset during the neonatal period. Research focusing on the effect of gene-by-gene interactions or genetic susceptibility to detrimental environmental challenges may further understanding of the complex etiology for autism.

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Epilepsy in autism

Cited by 637 publications

References 88 publications

Demographic and Cognitive Profile of Individuals Seeking a Diagnosis of Autism Spectrum Disorder in Adulthood

Demographic and Cognitive Profile of Individuals Seeking a Diagnosis of Autism Spectrum Disorder in Adulthood

Endocannabinoid Signaling in Autism

Advances in behavioral genetics: mouse models of autism

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