Autism spectrum disorder in children with and without epilepsy: impact on social functioning and communication

Turk, Jeremy; Bax, Martin; Williams, Clare; Amin, Pooja; Eriksson, Mats; Gillberg, Christopher

doi:10.1111/j.1651-2227.2008.01184.x

Cited by 65 publications

(50 citation statements)

References 24 publications

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“…In the human ASD literature, there have been suggestions of subtle phenotypic differences between ASD with and without epilepsy. Children with ASD and epilepsy, for instance, showed significantly reduced social interaction with peers of a similar age (Turk et al 2009). We suggest that in TSC the neurobiological abnormalities caused by gene mutation may be sufficient to lead to some autisticlike social deficit behaviors, and that seizures may have a direct and additive effect by inducing further social deficits to increase the likelihood and range of autistic-like behaviors.…”

Section: Discussionmentioning

confidence: 96%

Epilepsy and Tsc2 Haploinsufficiency Lead to Autistic-Like Social Deficit Behaviors in Rats

et al. 2010

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There is a strong association between autism spectrum disorders (ASD), epilepsy and intellectual disability in humans, but the nature of these correlations is unclear. The monogenic disorder Tuberous Sclerosis Complex (TSC) has high rates of ASD, epilepsy and cognitive deficits. Here we used the Tsc2 ?/-(Eker) rat model of TSC and an experimental epilepsy paradigm to study the causal effect of seizures on learning and memory and social behavior phenotypes. Status epilepticus was induced by kainic acid injection at P7 and P14 in wild-type and Tsc2 ?/-rats. At the age of 3-6 months, adult rats were assessed in the open field, light/dark box, fear conditioning, Morris water maze, novel object recognition and social interaction tasks. Learning and memory was unimpaired in naïve Tsc2 ?/-rats, and experimental epilepsy did not impair any aspects of learning and memory in either wild-type or Tsc2 ?/-rats. In contrast, rearing in the open field, novel object exploration and social exploration was reduced in naïve Tsc2 ?/-rats. Seizures induced anxiety and social evade, and reduced social exploration and social contact behavior in wild-type and Tsc2 ?/-rats. Our study shows that Tsc2 haploinsufficiency and developmental status epilepticus in wild-type and Tsc2 ?/-rats independently lead to autistic-like social deficit behaviors. The results suggest that the gene mutation may be sufficient to lead to some social deficits, and that seizures have a direct and additive effect to increase the likelihood and range of autistic-like behaviors.

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Section: Discussionmentioning

confidence: 96%

Epilepsy and Tsc2 Haploinsufficiency Lead to Autistic-Like Social Deficit Behaviors in Rats

et al. 2010

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“…This meta-analysis also found that the greater the intellectual disability the higher the risk for epilepsy, and that moderate to severe intellectual disability accounts for the greatest part of the statistical association between autism and epilepsy. In general, recent studies have found that individuals with autism and epilepsy have poorer cognitive (lower IQ), adaptive, behavioral, and social outcomes than those with autism without epilepsy [5,6]. In sum, a consistent set of results show that epilepsy is the most common central nervous system disorder associated with autism, that intellectual disability is a significant risk factor for the development of epilepsy in autism, and that epilepsy accounts for increased morbidity and mortality in individuals with autism [7][8][9].…”

Section: Epilepsy and Autism: Clinical Conundrum?mentioning

confidence: 99%

Epilepsy and Autism: Neurodevelopmental Perspective

Tuchman

Cuccaro

2011

Curr Neurol Neurosci Rep

109

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Epilepsy and autism coexist in up to 20% of children with either disorder. Current studies suggest that a frequent co-occurring condition in epilepsy and autism is intellectual disability, which shows a very high prevalence in those with both autism and epilepsy. In addition, these recent studies suggest that early-onset seizures may index a group of infants at high risk for developing autism, usually with associated intellectual deficits. In this review we discuss recent advances in the conceptualization of shared anatomical and molecular mechanisms that may account for the coexistence of epilepsy, autism, and intellectual disability. A major contribution to our improved understanding of the relationship among these three phenotypes is the discovery of multiple genomic variants that cut across them as well as other neurobehavioral phenotypes. As these discoveries continue they are very likely to elucidate causal mechanisms for the various phenotypes and pinpoint biologic pathways that may be amenable to therapeutic interventions for this group of neurodevelopmental disorders.

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“…Hrdlicka suggests that there is not a significant relationship between epilepsy and regression except in datasets enriched for epilepsy/seizures (Hrdlicka et al 2005). Turk and colleagues (Turk et al 2009) noted that children with autism and epilepsy showed a higher rate of motor problems including clumsiness. However, Ming and colleagues found no relationship between specific motor impairments (hypotonia, motor apraxia, gross motor delay, reduced ankle mobility, and toe walking) and the presence of epilepsy (Ming et al 2007).…”

Section: Introductionmentioning

confidence: 96%

“…Turk and colleagues noted that children with autism and autism plus epilepsy differed on select repetitive behaviors (Turk et al 2009). Specifically, children with autism were more likely than those with autism and epilepsy to show an unusual fascination with objects.…”

Section: Introductionmentioning

confidence: 97%

Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis

Cuccaro

Tuchman

Hamilton

et al. 2011

J Autism Dev Disord

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Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster solution with one cluster showing a high rate of epilepsy (29%), earlier age at first recognition, and high rates of repetitive object use and unusual sensory interests. We also conducted LCCA on an ASD-epilepsy subset from the overall dataset (N = 64) which yielded three clusters, the largest of which had impairments in language and motor development; the remaining clusters, while not as developmentally impaired were characterized by different levels of repetitive and sensory behaviors.

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Autism spectrum disorder in children with and without epilepsy: impact on social functioning and communication

Abstract: Results support important between-group differences with diagnostic and therapeutic implications. asds often present atypically in children with seizures. However, both groups showed widely varying social and linguistic presentations.

Cited by 65 publications

References 24 publications

Epilepsy and Tsc2 Haploinsufficiency Lead to Autistic-Like Social Deficit Behaviors in Rats

Epilepsy and Tsc2 Haploinsufficiency Lead to Autistic-Like Social Deficit Behaviors in Rats

Epilepsy and Autism: Neurodevelopmental Perspective

Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis

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