Around 20% of people with SAS also have epilepsy. This usually starts before the age of seven. The most common seizure type is focal seizure with impaired consciousness. This presents as staring, reduced responsiveness and automated behaviours (fidgeting, aimlessly walking around), and typically lasts a few minutes. Other seizure types are also possible, mostly generalized tonic-clonic seizures (grand mal) or atonic seizures (suddenly falling down).
In a minority (±20%) of children with SAS and epilepsy, there is also a specific kind of epilepsy during sleep: electrical status epilepticus in sleep (ESES) or by another name continuous spikes and waves during slow sleep (CSWS). This cannot be observed as seizures, but is visible on the EEG (electro-encephalogram) during sleep. When this is present it’s important to treat it, as it may lead to cognitive regression and behavioural issues.
In the only study in people with SAS so far, there was no relationship between abnormalities on brain MRI and epilepsy (the presence of clinical seizures).
Management:
When epileptic seizures are suspected, a (child) neurologist can do diagnostic investigations. This includes an EEG, which should preferably include sleep stages. For some children it’s very difficult or impossible to tolerate the electrodes being attached to their scalp or to leave them in place. Unfortunately, an EEG cannot be done under general anesthesia or other forms of sedation, as this influences brainwaves and renders the investigation useless.
Treatment is with standard antiseizure medication, tailored to the type of seizures. No drug has yet been demonstrated to be specifically effective for seizures in SAS. Most antiseizure drugs seem to be tolerated well in SAS, with the exception of levetiracetam, which is frequently discontinued because of aggressive behaviours.
See also: *Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
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