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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epileptic encephalopathies are progressive clinical and electroencephalographic syndromes where deterioration is thought to be caused by frequent seizures and abundant EEG epileptiform activity. Seizures occur in approximately 10-15% of children with pervasive developmental disorders (PDD) and 8-10% have epileptiform EEG abnormalities without seizures. Thirty percent of children with PDD have regression of social behavior and language at 2-3 years of age. Some authors speculate that the regression is caused by epileptiform activity even in the absence of overt clinical seizures ("autism with epileptic regression") and suggest that elimination of the epileptiform activity, either medically or surgically, should lead to improvement in behavior. This review examines the data showing that interictal epileptiform discharges are associated with transient clinical dysfunction and discusses the implications of these observations for autistic behavioral abnormalities. The results of resective surgery, vagal nerve stimulation, and multiple subpial transaction on children with autism and epileptiform EEG abnormalities are also discussed. I conclude that there is no evidence that interictal discharges per se cause (or contribute to) the complex behavioral phenotype of autism. There is no justification to support the use of anticonvulsant medication or surgery in children with PDD without seizures; that is, there is no evidence that treatment to eliminate EEG spikes will have a therapeutic effect on the behavioral abnormalities of PDD and autism.
Ment Retard Dev Disabil Res Rev 2004
PMID:Epileptic encephalopathies and their relationship to developmental disorders: do spikes cause autism? 1536 70

The efficacy of antiepileptic drugs (AEDs) and psychotropic medications in children with autism is limited to the treatment of seizures or to specific behaviors such as irritability, impulsivity, hyperactivity, repetitive behaviors, or aggression. The reliability and value of the available data--to determine the efficacy of these medications in autism--are limited by lack of controlled clinical trials, the small number of subjects, the heterogeneity of the population studied, and the brief duration of most drug trials. Indeed, few controlled clinical trials using AEDs in autism, with or without seizures, have been conducted. Because some AEDs also have a positive effect on mood, the benefits that children with autism sometimes obtain from these medications may not be due to the treatment of the abnormal electrical activity or the seizures per se but to an effect on common neuronal systems responsible for both behavior and epilepsy. The relationship between epilepsy and autism, and specifically the effects that abnormal electrical activity may have on the developing brain, may provide some valuable insights into the type of studies that are needed to help us understand the pathophysiology of autism.
Ment Retard Dev Disabil Res Rev 2004
PMID:AEDs and psychotropic drugs in children with autism and epilepsy. 1536 71

The occurrence of developmental regression in autism is one of the more puzzling features of this disorder. Although several studies have documented the validity of parental reports of regression using home videos, accumulating data suggest that most children who demonstrate regression also demonstrated previous, subtle, developmental differences. Counter to clinical intuition, the earlier development of social, language, and attachment behaviors followed by regression does not seem to support later recovery of skills or better developmental outcomes compared to children who never had speech or typical social responsivity. In fact, this regressive group may have somewhat greater developmental impairment than the nonregressive group, though the two groups do not appear to present different behavioral phenotypes. Although autism is not the only condition in which regression occurs, it appears to be the most frequent condition. Other disorders that demonstrate an early regression with no known etiology include total blindness from birth and childhood disintegrative disorder, both of which demonstrate behavioral relations to autism. In addition, two biological conditions with known etiologies also involve regression with some behaviors resembling autism behavioral phenotype: Rett syndrome (a genetic disorder; see Glaze, this issue) and Landau-Kleffner syndrome (see McVicar and Shinnar, this issue), which involves a seizure disorder.
Ment Retard Dev Disabil Res Rev 2004
PMID:Developmental regression in autism spectrum disorders. 1536 72

Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females. Regression is a defining feature of RTT. During the regression stage, RTT girls display many autistic features, such as loss of communication and social skills, poor eye contact, and lack of interest, and initially may be given the diagnosis of autism. The discovery of the genetic cause of RTT, mutations in the MECP2 gene, a transcriptional repressor, has promoted the early diagnosis of RTT and development of mouse models. The phenotype of one mouse model includes features such as regression and abnormal behavioral and social interactions. The timing of the period of regression in RTT--during ages 1 to 2 years--parallels the period of intense synaptic development. The effects of the MECP2 mutation also increases concomitantly with peak synaptogenesis. Neuropathological findings in Rett include the selective reduction of dendritric spines in the pyramidal cells of RTT brains; this feature has also been reported in autism. Studies have observed that MECP influences the expression of brain-derived neurotrophic factor and thus may influence synaptic plasticity. Abnormalities in synapse maintenance and modulation may contribute to regression in RTT and autism. Studies of the clinical aspects of the regression period and of the mouse model may be useful in understanding the pathophysiology of RTT and other neurodevelopmental disorders such as autism. A recent study observed abnormal expression of MeCP2 in RTT and other neurodevelopmental disorders such as autism. Although the genetic background and certain clinical features differ in RTT and autism, a similar mechanism involving MeCP2 regulation and expression may contribute to regression.
Ment Retard Dev Disabil Res Rev 2004
PMID:Rett syndrome: of girls and mice--lessons for regression in autism. 1536 75

The effects of functional communication training on the generalized reduction of problem behavior with three 4- to 5-year-old children with autism and problem behavior were evaluated. Participants were assessed in primary teaching settings and in three secondary, generalization settings. Through baseline analysis, lower effort interventions in the secondary settings were documented as ineffective when implemented alone. Higher effort interventions incorporating functional communication training were documented within a multiple baseline design to reduce problem behavior in the primary setting, but not in secondary settings until the lower effort interventions were re-introduced. Results demonstrate the need for trans-situational interventions based on a common functional assessment hypothesis across settings and including intensive interventions that enhance the effects of lower intensity interventions.
Am J Ment Retard 2005 Jan
PMID:Generalized reduction of problem behavior of young children with autism: building trans-situational interventions. 1556 65

Two primary care practices were used to recruit adults with and without disability. Disability groups included autism, Down syndrome, cerebral palsy, and mental retardation. The patients without disability had an epilepsy prevalence rate of 1%. The prevalence of epilepsy within the disability groups was 13% for cerebral palsy, 13.6% for Down syndrome; 25.4% for autism, 25.5% for mental retardation, and 40% for adults with both cerebral palsy and mental retardation. During the decades of adulthood, the prevalence of epilepsy declined for those with cerebral palsy and mental retardation. The prevalence of epilepsy increased with advancing years for adults with Down syndrome, autism, and those without disability. Nonetheless, during each decade the prevalence of epilepsy was higher in all of the disability groups compared to those without disability.
Am J Ment Retard 2005 Jan
PMID:Prevalence of epilepsy in adults with mental retardation and related disabilities in primary care. 1556 66

People with mental retardation, autism, and related developmental disabilities who self-injure are treated with a wide array of behavioral techniques and psychotropic medications. Despite numerous reports documenting short-term and some long-term changes in self-injury associated with the opiate antagonist naltrexone hydrochloride, no quantitative review of its efficacy has been reported. We conducted a quantitative synthesis of the peer-reviewed published literature from 1983 to 2003 documenting the use of naltrexone for the treatment of self-injurious behavior (SIB). Individual-level results were analyzed given subject and study characteristics. A sample of 27 research articles involving 86 subjects with self-injury was reviewed. Eighty percent of subjects were reported to improve relative to baseline (i.e., SIB reduced) during naltrexone administration and 47% of subjects SIB was reduced by 50% or greater. In studies reporting dose levels in milligrams, males were more likely than females to respond. No significant relations were found between treatment outcomes and autism status or form of self-injury. Results are discussed with respect to future efficacy work related to study outcomes and the pharmacological treatment of self-injury.
Ment Retard Dev Disabil Res Rev 2004
PMID:Self-injurious behavior and the efficacy of naltrexone treatment: a quantitative synthesis. 1561 82

Preverbal communication and joint attention have long been of interest to researchers and practitioners. Both attending to social partners and sharing attentional focus between objects or events and others precede the onset of a child's first lexicon. In addition, these prelinguistic acts also appear to have important implications with regard to learning to socialize. The construct of joint attention has been noted as an early developing area prior to the transition to symbolic communication. Thus, the importance of joint attention in typically developing children, and the lack thereof in children with autism, has interested researchers for use in diagnosis and intervention for autism. That is, joint attention has been gaining momentum as an area that not only helps characterize children with autism, but also as a prognostic indicator and a potential intervention goal. In this paper, the status of the literature about initiation of joint attention by young typically developing children and young children with autism was examined. Empirical studies regarding joint attention behaviors, including eye gaze alternation, the use of protodeclaratives and protoimperatives, and studies that investigated joint attention as a predictor of language acquisition were reviewed. Possible areas for future research for children with autism are discussed.
Ment Retard Dev Disabil Res Rev 2004
PMID:Joint attention and children with autism: a review of the literature. 1561 88

Recent representations of autism frequently include an assumption that autism is the result of a "theory of mind" deficit (i.e., an inability to understand others' mental states). This notion is examined using a social constructionist perspective. The belief that autism is a sort of "mind-blindness" has much in common with earlier representations of autism that depict it as a puzzle and, paradoxically, as a single entity defined by core characteristics. Theory of mind theorists also, like their predecessors, define autism as a form of insufficiency and as requiring fixing rather than accommodation. Alternative narratives about autistic minds that incorporate the perspectives of people labeled autistic are an important counterbalance to the limitations of such professional viewpoints.
Ment Retard 2005 Feb
PMID:Unauthorized minds: how "theory of mind" theory misrepresents autism. 1562 30

New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to features of chromosome 15q11-q13 disorders. Paternally or maternally derived deficiencies of 15q11-q13 result in Prader-Willi or Angelman syndromes, and we first use a global approach to review potential autism susceptibility genes in the 15q11-q13 region. We then use a more trait-based approach to suggest possible ties between specific phenotypic characteristics of autism and Prader-Willi syndrome, namely savant-like skills. We conclude with insights from pathophysiological studies that implicate altered development of specific neuron types and circuits in the cerebral cortex as part of the pathophysiological processes associated with autism and mental retardation.
Ment Retard Dev Disabil Res Rev 2004
PMID:Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues. 1566 33


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