NINDS epilepsy and autism spectrum disorders workshop report

Tuchman, Roberto; Hirtz, Deborah; Mamounas, Laura A.

doi:10.1212/wnl.0b013e3182a9f482

Cited by 50 publications

(42 citation statements)

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“…Since the earliest writings about ASD, there has been a known association with epilepsy (Kanner 1968) and a tacit recognition that both conditions often exist in the same individual at a much higher rate than would be expected by chance alone (Tuchman and Rapin 2002;Matsuo et al 2010;Tuchman and Cuccaro 2011;Tuchman et al 2013). This association between epilepsy and ASD has challenged researchers to find the pathophysiological link between the two conditions.…”

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confidence: 99%

Epilepsy and Autism

Buckley

Holmes

2016

Cold Spring Harb Perspect Med

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Epilepsy and autistic spectrum disorder frequently coexist in the same individual. Electroencephalogram (EEG) epileptiform activity is also present at a substantially higher rate in children with autism than normally developing children. As with epilepsy, there are a multitude of genetic and environmental factors that can result in autistic spectrum disorder. There is growing consensus from both animal and clinical studies that autism is a disorder of aberrant connectivity. As measured with functional magnetic resonance imaging (MRI) and EEG, the brain in autistic spectrum disorder may be under-or overconnected or have a mixture of over-and underconnectivity. In the case of comorbid epilepsy and autism, an imbalance of the excitatory/inhibitory (E/I) ratio in selected regions of the brain may drive overconnectivity. Understanding the mechanism by which altered connectivity in individuals with comorbid epilepsy and autistic spectrum disorder results in the behaviors specific to the autistic spectrum disorder remains a challenge.

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confidence: 99%

Epilepsy and Autism

Buckley

Holmes

2016

Cold Spring Harb Perspect Med

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“…Autism spectrum disorder (ASD, or simply 'autism') and epilepsy are common neurodevelopmental disorders that account for a large proportion of child and adult neurologic burden of disease [1], with co-morbidities as high as 30% or more [2][3][4][5]. Some researchers have suggested that the degree of clinical overlap between ASD and epilepsy arises from a common neurodevelopmental dysfunction [6].…”

Section: Introductionmentioning

confidence: 99%

Nonlinear EEG biomarker profiles for autism and absence epilepsy

Bosl

Loddenkemper

Nelson

2017

Neuropsychiatr Electrophysiol

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Background: Although autism and epilepsy are considered to be different disorders, epileptiform EEG activity is common in people with autism even when overt seizures are not present. The relatively high comorbidity between autism and all epilepsy syndromes suggests the possibility of common underlying neurophysiological mechanisms. Although many different epilepsies may be comorbid with autism, absence epilepsy is a generalized epilepsy syndrome with seizures that appear as staring spells, with no motor signs and no focal lesions, making it more difficult to diagnose. Application of nonlinear methods for EEG signal analysis may enable characterization of brain activity that can help to delineate neurophysiological commonalities and differences between autism and epilepsy. Multiscale entropy and recurrence quantitative analysis (RQA) were computed from EEG signals derived from children with autism or absence epilepsy and compared with the goal of finding significant and potentially clinically useful biomarkers neurophysiological differences between these two childhood disorders. Methods: Multiscale entropy and a multiscale version of RQA were computed from EEG data obtained from 92 children were collected in two different settings at Boston Children's Hospital. Short segments of alert resting state EEG were selected for analysis. A complexity index derived from entropy and RQA methods was computed from each of 19 standard EEG channels for all subjects using publicly available software. Statistical comparisons were made between the groups. Machine learning classifiers were also used to determine which derived features were most significantly different among the groups, and to determine classification specificity and sensitivity. Results: Significant differences were found between absence, autism, and control groups in a number of different scalp locations and the values of complexity index. Autism values appeared to be intermediate between epilepsy and control in many locations, and differences between controls and absence patients were more widely distributed across scalp locations. Classification algorithms were able to distinguish absence epilepsy and autism cases from controls with high (>95%) accuracy. Importantly, two independent control groups, although they were derived from different settings and with different equipment were statistically indistinguishable.

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“…Repeated measures during the active phase of epilepsy may be critical to understanding how epileptic activity impacts on (or is associated with) development and behavior. Early identification of ASD and cognitive delays in children with epilepsy could lead to investigations into the genetic and environmental risk factors determining the relationship between ASD and epilepsy 4 and could have a significant impact on outcomes for patients and their families. The corpus callosum is the largest white matter bundle and plays a crucial role in the interhemispheric transfer of information from associative cortices to coordinate and integrate bilateral functionality for diverse motor and cognitive functions.…”

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confidence: 99%

“…An ongoing disease, as supposed by the authors, seems quite possible with respect to the genetic background and untreated abnormal lysine metabolism. Recently, Jansen et al 4 found a reduced antiquitin protein expression and an accumulation of a-aminoadipic semialdehyde (a-AASA), D 1 -piperideine-6-carboxylate (P6C), and pipecolic acid in the brain of a patient with PDE. According to the authors, accumulation of toxic metabolites, lack of other critical activities of antiquitin, and dysfunction of pyridoxal phosphate dependent enzymes could be the causes of the abnormal brain morphology in PDE.…”

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confidence: 99%

“…In addition, pyridoxine treatment has a limited influence on the elevations of a-AASA and P6C and does not prevent accumulation of a-AASA, P6C, and pipecolic acid in the brain. 4 Several studies on abnormal corpus callosum development indicate a relationship between the extent of the corpus callosum abnormalities and cognitive deficits. In the study of Friedman et al 3 the cognitive status of their patients is not reported and further studies are needed to determine the relationship between corpus callosum abnormalities and clinical parameters in individuals with PDE.…”

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confidence: 99%

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