DEMOGRAPHICS

Prevalence:      ~1% to 2% of all childhood epilepsies.

Age at Onset:      6 months to 6 years, peak 2-4 years.

Genetics:             There is often a strong family history of epilepsy including other epilepsy syndromes. A proportion of these patients are SCN1a positive. SLC2A1 has also been found (Glucose Transporter gene)

SYMPTOMS AND SIGNS

Seizure Semiology: Myoclonic astatic seizures are the defining symptoms (100%), manifesting with symmetrical myoclonic jerks immediately followed by loss of muscle tone (atonic component).  They cause lightning-like falls, head nodding, or bending of the knees. 

•  More than half of patients have brief absence seizures, often together with myoclonic jerks, facial myoclonias, and atonic events.
• Atonic and absence seizures are frequent and sometimes many occur each day.
• Tonic seizures are not a major feature.
• Non-convulsive status epilepticus for hours or days affects 1/3 of patients.
• In 2/3's of patients, febrile and non-febrile generalised tonic clonic seizures appear first, several months prior to myoclonic astatic seizures.
• The seizure frequency can become very severe and sometimes refractory to treatment. However, despite this, the outcome for most is favourable. 

Neurological and Mental State: Normal prior to the onset of seizures.

INVESTIGATIONS

EEG:

• Usually normal background particularly at onset of syndrome, with frequent generalised discharges of 2 to 3 Hz spike/polyspike wave. With time background may show generalised slowing.
• Epileptogenic activity increases in sleep.
• Photic stimulation may trigger generalised spike/wave or myoclonic astatic seizures.
• Non-convulsive status leads to continuous or discontinuous and repetitive 2 to 3 Hz spike/ wave.

Neuro Imaging:

• Symptomatic causes need to be excluded.

DIFFERENTIAL DIAGNOSIS

• Lennox Gastaut Syndrome.
• Atypical childhood epilepsy with centrotemporal spikes
• Dravet syndrome

PROGNOSIS

• Half of patients (probably with the idiopathic form) achieve seizure freedom and normal development. 
• The others (probably symptomatic cases) continue with seizures, severe impairment of cognitive functions, and behavioural abnormalities.
• Ataxia and motor linguistic disturbances may emerge.

MANAGEMENT OPTIONS

• Early referral to paediatric neurology.
• Sodium valproate.
• Ethosuximide.
• Lamotrigine.
• Levetiracetam.
• Refractory cases may respond to the ketogenic diet.

Discussion with family

• Safety
• Epilepsy Medical Record
• Potential of performing baseline educational assessment (through school counsellor)
• Drug Handout

LINK TO USEFUL RESOURCES

• Epilepsy Action (UK) have information for Parents on Epilepsy with Myoclonic Astatic Seizures (Doose Syndrome)

This page was created in March 2012. It was last reviewed in December 2017.

REFERENCES:

Panayiotopoulos CP. The epilepsies: Seizures, syndromes and management: Based on the ILAE classifications and practice parameter guidelines. Chipping Norton, Oxfordshire: Bladen Medical Publishing; 2005.

Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence (4^th ed).  Montrouge, France: John Libbey Eurotext Ltd ; 2005.