Continuous spike-wave during slow sleep syndrome
Alternate names[edit | edit source]
Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; CSWS; CSWSS syndrome; Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Definition[edit | edit source]
Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.
Epidemiology[edit | edit source]
The prevalence is unknown. CSWS is a rare condition that affects 0.5-1.5% of children with epilepsy (in some series) and has a 3:2 male to female ratio.
Cause[edit | edit source]
- Early developmental lesions such as vascular insults, especially affecting the thalamus, or malformations of cortical development have been found in approximately half of all cases.
- Genetic factors, especially mutations in the GRIN2A gene (16p13.2) have been recently linked to CSWS.
Inheritance[edit | edit source]
An autosomal dominant transmission has been proposed in families with a GRIN2A mutation.
Signs and symptoms[edit | edit source]
- CSWS is an age-related epileptic encephalopathy in which the clinical features evolve over time.
- After a normal or only moderately abnormal baseline development, seizures usually present at around 2-4 years of age.
- They are often unilateral, tonic-clonic or clonic and typically occur out of sleep.
- Seizures become more frequent, severe, and treatment-resistant with a marked deterioration in seizures, EEG, and developmental aspects (i.e. language, social interactions, global intelligence, motor skills and behavior) at approximately 5-6 years of age.
- During this acute stage, the seizures (absence seizures, clonic, tonic-clonic and others) and EEG abnormalities are difficult to control.
- Spontaneous improvement in seizures and EEG features occurs before puberty, but most patients remain with severe developmental delay.
Diagnosis[edit | edit source]
- Diagnosis is based on characteristic clinical evolution (with seizures and neurocognitive regression in at least 2 domains) and EEG findings.
- The main EEG feature of CSWS is ESES.
- ESES is characterized by marked potentiation of epileptiform discharges during the transition from wakefulness to sleep leading to (near-) continuous, bilateral or occasionally lateralized slow spikes and waves that occur during a significant proportion of non-rapid eye movement (REM) sleep.
- Magnetic resonance imaging (MRI) is performed in order to identify any brain lesions.
- As of now it is not routine clinical practice to perform genetic tests for GRIN2A in CSWS, but testing is available in certain specialized centers.
Treatment[edit | edit source]
- The main aim of treatment is to control seizures.
- It is unknown whether improvement of EEG abnormalities improves the long-term developmental outcome.
- High-dose nocturnal benzodiazepines like diazepam or clobazam are successful in reducing epileptiform activity acutely and subacutely.
- The antiepileptic drugs most often used include valproate, levetiracetam, lamotrigine, and ethosuximide.
- Corticosteroids are useful but associated with long-term side effects.
- Epilepsy surgery is an efficacious therapy in selected cases, even when epileptiform discharges are bilateral.
Prognosis[edit | edit source]
Although seizures and EEG abnormalities tend to normalize by adolescence, the developmental prognosis is generally poor as neurocognitive regression is permanent in most cases.
NIH genetic and rare disease info[edit source]
Continuous spike-wave during slow sleep syndrome is a rare disease.
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