Roberto Tuchman

Epilepsy in autism

There is an increased but variable risk of epilepsy in autism. Three main factors--age, cognitive level, and type of language disorder--account for variability in the reported prevalence of epilepsy. The prevalence is highest in studies that have included adolescents and young adults, individuals with moderate to severe mental retardation and those with motor deficits, and individuals with severe receptive language deficits. The association of autism with clinical or subclinical epilepsy might denote common genetic factors in some cases. Whether subclinical epilepsy has adverse effects on cognition, language, and behaviour is debated, as is the relation of autistic regression with an epileptiform electroencephalogram to Landau-Kleffner syndrome. There is no evidence-based treatment recommendation for individuals with autism, regression, and subclinical epilepsy. Double-blind studies with sufficient power to resolve this issue are urgently needed.

Longitudinal examination of the behavioral, language, and social changes in a population of adolescents and young adults with autistic disorder

This follow-up study evaluates the behavioral, language, and social outcomes in a population of autistic patients initially examined in childhood. We evaluated 102 (63%) of the 163 eligible subjects, including 54 adolescents (12-17 years of age) and 45 adults (> or = 18 years of age). Three patients had died in the interim. Behavior difficulties continued to be a problem in 69% of adolescents and adults. Thirty-five percent of adolescents and 49% of adults engaged in self-injurious behavior, and slightly more than 50% of adolescents and adults exhibited some stereotypic behaviors. Over 90% of both adolescents and adults had persisting social deficits. Language improved with age, although only 35% achieved normal or near-normal fluency. Comprehension also improved, although only 29% of subjects had achieved normal or near-normal comprehension of oral language. At the time of last follow-up, 28% of all patients and 53% of adults were living in residential placement. Only 11% of adults were employed on the open market, all in menial jobs; an additional 16% were employed in sheltered workshops. The social, behavioral, and language deficits identified in early life in autistic children tend to persist into adolescence and young adulthood.

Language regression in childhood

Language regression is observed both in autistic regression and as part of acquired epileptic aphasia (Landau-Kleffner Syndrome). We prospectively identified 177 children with language regression at four major medical centers, and their clinical characteristics were recorded. Their mean age at regression was 22.8 months. The mean time-to-specialist referral was 38 months of age. Most children (88%) met criteria for autism or manifested autistic features. Males (P = 0.02) and children less than 3 years of age who regressed (P = 0.016) had a higher probability of developing autistic behaviors. Seizures were more common in children who regressed after they reached 3 years of age (P < 0.001), and children with seizures were less likely to have associated autistic regression (P < 0.001). Electroencephalogram abnormalities were reported in 37% of patients and were more common in children with seizures (P < 0.001). At last follow-up, language function was impaired in 88% of the children, although some improvement was noted in 57%. We conclude that the loss of previously acquired language at any age, even if that language only includes a few words or communicative gestures, is often associated with a more global regression in cognition and/or behavior and has serious implications for future function. Early identification and referral of these children is necessary to allow for diagnosis and intervention.Language regression is observed both in autistic regression and as part of acquired epileptic aphasia (Landau-Kleffner Syndrome). We prospectively identified 177 children with language regression at four major medical centers, and their clinical characteristics were recorded. Their mean age at regression was 22.8 months. The mean time-to-specialist referral was 38 months of age. Most children (88%) met criteria for autism or manifested autistic features. Males (P = 0.02) and children less than 3 years of age who regressed (P = 0.016) had a higher probability of developing autistic behaviors. Seizures were more common in children who regressed after they reached 3 years of age (P < 0.001), and children with seizures were less likely to have associated autistic regression (P < 0.001). Electroencephalogram abnormalities were reported in 37% of patients and were more common in children with seizures (P < 0.001). At last follow-up, language function was impaired in 88% of the children, although some improvement was noted in 57%. We conclude that the loss of previously acquired language at any age, even if that language only includes a few words or communicative gestures, is often associated with a more global regression in cognition and/or behavior and has serious implications for future function. Early identification and referral of these children is necessary to allow for diagnosis and intervention.

Epilepsy and epileptiform EEG: Association with autism and language disorders

The relationship between epilepsy, language, behavior, and cognition is not well understood. Developmental and acquired disabilities such as autistic spectrum disorders, Landau-Kleffner Syndrome, electrical status epilepticus in sleep, and developmental dysphasias have been associated with epileptiform abnormalities. These disorders share many common features and raise important questions regarding this intricate relationship. This article reviews these disorders and discusses the proposed interaction between epileptiform abnormalities and cognitive dysfunction. Diagnostic and treatment issues will also be reviewed.

Social and nonsocial factors in the Childhood Autism Rating Scale

The Childhood Autism Rating Scale (CARS) was factor analyzed to determine if distinct and independent “subgroups” of symptoms could be derived, which would be consistent with the current multidimensional theory and nosology for autism. To address this issue, the CARS was factor analyzed for a sample of 90 children with diagnoses of either autism or PDDNOS, based on DSM-III-R diagnostic criteria. Five factors emerged: Social Communication, Emotional Reactivity, Social Orienting, Cognitive and Behavioral Consistency, and Odd Sensory Exploration. Factor-based scales were created. These factor-based scales were demonstrated to distinguish subjects with autism from subjects with PDDNOS and nonautistic subjects. Factor-based scores were examined to determine the degree to which they were associated with individual differences (such as age, IQ, gender, history of regression, and history of abnormal EEGs) among children with pervasive developmental disorders (PDDs). The application of these distinct and independent factors may have important clinical and research implications. The generation of factor-based scales may provide information on the nature of the individual differences that are thought to be present among children with autism. Additionally, the use of factor-based scale scores may increase the sensitivity of the CARS for identifying younger and/or higher functioning individuals within the PDD spectrum.

Antiepileptic drugs: affective use in autism spectrum disorders

Antiepileptic drugs are widely administered to individuals with autistic spectrum disorders. There are several reasons for the use of antiepileptic drugs in autistic spectrum disorders, including the high incidence of epilepsy in these individuals, the anecdotal reports suggesting an improvement of communication and behavior in autistic subjects with epileptic discharges, and the increased awareness that some disruptive behaviors may be manifestations of an associated affective disorder. In this study, data on the current use of antiepileptic drugs in the treatment of autism, and on the association of affective disorders with epilepsy and autism, are reviewed. The evidence supporting the hypothesis that there may be a subgroup of autistic children with epilepsy and affective disorders that preferentially respond to antiepileptic drugs is still very preliminary, and further investigations with double-blind controlled studies are needed. Although the role of antiepileptic drugs at the present time is not established, there is evidence that autism, epilepsy, and affective disorders commonly co-occur, and that they may share a common neurochemical substrate, which is the common target of the psychotropic mechanism of action of different antiepileptic drugs.

Treatment of Seizure Disorders and EEG Abnormalities in Children with Autism Spectrum Disorders

The treatment of seizure disorders EEG epileptiform abnormalities without epilepsy in children with autism spectrum disorders (ASD) is considered within the context of the relationship of epilepsy and epileptiform disorders to language, behavior, and cognition. There is an increased prevalence of both epilepsy and abnormal potentially epileptogenic activity in children with ASD. Anecdotal evidence suggests that the use of anticonvulsants to treat epileptiform discharges thought to be producing dysfunction in selected aspects of cognition, language, or behavior makes a positive difference in a subgroup of children with ASD, but there is inadequate evidence on which to base specific recommendations. There is, at present, no scientific justification for considering epilepsy surgery in children with ASD in the absence of intractable clinical seizures.

Risk and Correlates of Autism Spectrum Disorder in Children With Epilepsy: A Community-Based Study

The prevalence of autism spectrum disorders for children with epilepsy in the general population is unknown. In a prospective community-based study of newly diagnosed childhood epilepsy, autism spectrum disorder was determined from parental interviews, medical records, and expert reviews by a child psychiatrist. A total of 28 (5%) participants had autism spectrum disorders. West syndrome (prevalence ratio = 4.53, P = .002) and intellectual impairment (prevalence ratio = 4.34, P = .002) were independently associated with autism spectrum disorder. Absent West syndrome, male gender was associated with autism spectrum disorder (prevalence ratio = 3.71, P = .02). For participants with overall normal cognitive abilities, 2.2% had autism spectrum disorder, which is substantially higher than estimates from the general population (0.5%-0.9%). In addition to West syndrome, which has repeatedly been shown to have a special relationship with autism spectrum disorder, the most important determinants of autism spectrum disorder in the general population (intellectual impairment and male sex) are also important in young people with epilepsy.

Carbon monoxide poisoning: bilateral lesions in the thalamus on MR imaging of the brain

Magnetic Resonance (MR) Imaging of the brain in a child with carbon monoxide poisoning revealed bilateral diffuse high signal in the centrum semiovale and the previously unreported finding of bilateral high intensity lesions in the anterior thalami. This case illustrates a previously unrecognized effect of carbon monoxide poisoning and demonstrates the superiority of MR imaging over computed tomography in cases of carbon monoxide poisoning.

Autism and Epilepsy: What Has Regression Got to Do with It?

The relationship among epilepsy, autism, and regression is a poorly understood and controversial subject. In this brief review, examples of epileptic encephalopathies associated with regression of language and behavior and their overlap with autistic regression are discussed.