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| content:epilepsy_aphasia_disorders [2020/02/16 22:52] – created icna | content:epilepsy_aphasia_disorders [2024/03/17 22:03] (current) – biju.hameed@gmail.com | ||
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| The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia). The language problems can affect speaking, reading, and writing. The conditions are also charactarised by distinct EEG patterns. Individuals with the condition develop recurrent seizures and have mild to severe intellectual disability. | The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia). The language problems can affect speaking, reading, and writing. The conditions are also charactarised by distinct EEG patterns. Individuals with the condition develop recurrent seizures and have mild to severe intellectual disability. | ||
| - | The conditions in the epilepsy-aphasia spectrum, which all begin in childhood, include | + | The conditions in the epilepsy-aphasia spectrum, which all begin in childhood, include |
| + | * [Landau-Kleffner syndrome]] (LKS) | ||
| + | * [[epileptic encephalopathy with continuous spike-and-wave during sleep syndrome]] ([[ECSWS]]) | ||
| + | * [[autosomal dominant rolandic epilepsy with speech dyspraxia]] (ADRESD) | ||
| + | * [[intermediate epilepsy-aphasia disorder]] (IEAD) | ||
| + | * [[atypical childhood epilepsy with centrotemporal spikes]] (ACECTS), and | ||
| + | * [[childhood epilepsy with centrotemporal spikes]] (CECTS). | ||
| [[Landau-Kleffner syndrome|LKS]] and [[epileptic encephalopathy with continuous spike-and-wave during sleep syndrome|ECSWS]] are at the severe end of the spectrum. In both these conditions the EEG shows a continuous spike and waves during slow-wave sleep (CSWS). | [[Landau-Kleffner syndrome|LKS]] and [[epileptic encephalopathy with continuous spike-and-wave during sleep syndrome|ECSWS]] are at the severe end of the spectrum. In both these conditions the EEG shows a continuous spike and waves during slow-wave sleep (CSWS). | ||
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| The other conditions in the epilepsy-aphasia spectrum are less common and fall in the middle of the spectrum. Children with IEAD usually have delayed development or regression of language skills. Some have seizures and most have abnormal sleep EEGs although not prominent enough to be classified as CSWS. ACECTS features seizures and developmental regression that can affect movement, language, and attention. Children with ACECTS have abnormal EEG sometimes charactaristic of CSWS. ADRESD is characterized by focal seizures, speech difficulties due to dyspraxia, and learning disability. | The other conditions in the epilepsy-aphasia spectrum are less common and fall in the middle of the spectrum. Children with IEAD usually have delayed development or regression of language skills. Some have seizures and most have abnormal sleep EEGs although not prominent enough to be classified as CSWS. ACECTS features seizures and developmental regression that can affect movement, language, and attention. Children with ACECTS have abnormal EEG sometimes charactaristic of CSWS. ADRESD is characterized by focal seizures, speech difficulties due to dyspraxia, and learning disability. | ||
| ===== Etiology ===== | ===== Etiology ===== | ||
| - | * mutations in the GRIN2A gene can result in conditions in the epilepsy-aphasia spectrum. | + | * mutations in the //GRIN2A// gene can result in conditions in the epilepsy-aphasia spectrum. |
| - | * The GRIN2A gene provides instructions for making the GluN2A protein, a subunit of a subset of NMDA receptors. | + | * The //GRIN2A// gene provides instructions for making the GluN2A protein, a subunit of a subset of NMDA receptors. |
| * NMDA receptor signalling is involved in normal brain development, | * NMDA receptor signalling is involved in normal brain development, | ||
| - | * GRIN2A variants are found in up to 20 percent of people with LKS or ECSWS and about 5 percent of people with CECTS. | + | * //GRIN2A// variants are found in up to 20 percent of people with LKS or ECSWS and about 5 percent of people with CECTS. |
| - | * even in individuals with GRIN2A variants some have a mild condition while others are severely affected even within the same family. The cause of this is not known | + | * even in individuals with //GRIN2A// variants some have a mild condition while others are severely affected even within the same family. The cause of this is not known |
| - | * there are possibly other unidentified genes associated with epilepsy-aphasia spectrum disorders. Environmental factors may also play a role in the development of these conditions. | + | * there are possibly other unidentified genes associated with epilepsy-aphasia spectrum disorders. |
| + | * Environmental factors may also play a role in the development of these conditions. | ||