Continuous spike-wave during slow sleep syndrome

Alternate names

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

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

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

• 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

Autosomal dominant pattern, a 50/50 chance.

An autosomal dominant transmission has been proposed in families with a GRIN2A mutation.

Signs and symptoms

• 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

• 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

• 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

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

• NIH info on Continuous spike-wave during slow sleep syndrome

Continuous spike-wave during slow sleep syndrome is a rare disease.

Continuous spike-wave during slow sleep syndrome Resources
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