Autistic regression is a well known condition that occurs in one third of children with pervasive developmental disorders, who, after normal development in the first year of life, undergo a global regression during the second year that encompasses language, social skills and play. In a portion of these subjects, epileptiform abnormalities are present with or without seizures, resembling, in some respects, other epileptiform regressions of language and behaviour such as Landau-Kleffner syndrome. In these cases, for a more accurate definition of the clinical entity, the term autistic epileptifom regression has been suggested. As in other epileptic syndromes with regression, the relationships between EEG abnormalities, language and behaviour, in autism, are still unclear. We describe two cases of autistic epileptiform regression selected from a larger group of children with autistic spectrum disorders, with the aim of discussing the clinical features of the condition, the therapeutic approach and the outcome.
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Genes (Basel)
December 2024
Division of Basic Biomedical Sciences, Sanford School of Medicine, University of South Dakota, Vermillion, SD 57069, USA.
Background: (absent, small, or homeotic-like 1), a histone methyltransferase, has been identified as a high-risk gene for autism spectrum disorder (ASD). We previously showed that postnatal severe deficiency in the prefrontal cortex (PFC) of male and female mice caused seizures. However, the synaptic mechanisms underlying autism-like social deficits and seizures need to be elucidated.
View Article and Find Full Text PDFEur J Hum Genet
August 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Front Cell Dev Biol
March 2024
Pediatric Neurology Department Sant Joan de Déu (SJD) Children's Hospital, Barcelona, Spain.
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.
View Article and Find Full Text PDFJ Neurosci
April 2024
Department of Neurology, Massachusetts General Hospital, Charlestown, Massachusetts 02129
Zh Nevrol Psikhiatr Im S S Korsakova
July 2023
Moscow Research and Clinical Centre for Neuropsychiatry, Moscow, Russia.
Psychogenic non-epileptic seizures (PNES) are paroxysmal conditions that resemble epileptic seizures, but are not accompanied by epileptiform activity on the electroencephalogram and are not associated with other neurological or somatic disorders. Unrecognized PNES places a heavy burden on the patient and family, and on the health care system. Among many possible combinations of PNES with psychiatric disorders, autistic spectrum disorders are the least studied.
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