(DAE) – nosologically independent form of idiopathic generalized epilepsy, characterized by a debut of 2-8 years, frequent short, typical absence and the presence of generalized peak-wave complexes with a frequency of 3 Hz on EEG.
In 1924, Adie presented a detailed description of this disease: “… This is a disease with a sudden debut between 4 and 14 years, manifested by frequent, short, very light, monotonous small epileptic seizures of the same severity, which are almost always repeated during the day, for months or years, do not affect the normal mental development, and which one day spontaneously stop, never to repeat again … “
In 1989, children’s abscess epilepsy was isolated in an independent form and assigned to the group of idiopathic generalized epilepsy.
The frequency of AED among children aged 1–15 years is 6.3–8: 100,000 (Ols-son, 1988; Loiseau, 1990).
Genetic data. Gene DAE is still not installed. Hereditary burden of epilepsy is observed in 15-40% of patients with AED. According to Mukhin K.Yu. and others (2000), 22% of probands with AED have a positive family history of epilepsy. It should be noted that the individual clinically healthy family members of the probands on the EEG revealed a typical peak-wave activity of 3 Hz in the absence of seizures.
Clinic. The age of manifestation of DAE varies from 2 to 8 years, with a peak of manifestation of clinical manifestations in 5-8 years (Loiseau, 1992; Panayiotopoulos, 1994). The most characteristic clinical manifestations of AED are typical absans (simple and complex), accompanied by sudden and profound impairment of consciousness, gaze stopping and interruption of vigorous activity. During an attack, the patient becomes stationary, with an empty, fixed, missing, hypomimic face (simple absans).
Patients feel abscesses like memory failures, loss of conversation, reading threads, etc. Very short abscesses are not always felt, they can remain unnoticed for others and relatives for a long time, being detected only when performing special tests (for example, with hyperventilation).
According to Janz (1994), in 35% of patients with AED there are simple abscesses, in 43% – complex, in 22% – their combination. The frequency of attacks is high – up to several dozen per day. The second type of seizures, observed in 40% of patients with AED, are generalized tonic-clonic paroxysms (Loiseau, 1992). In 4% of patients, these attacks may be ahead of the development of absences by several months or years. Generalized tonic-clonic paroxysms are usually rare, sometimes patients for the entire period of the disease may be 1-2 such attacks.
The neuropsychic status in most patients is normal. Intellectual disturbances are absent. At the same time, 25% of sick children suffering from AED have signs of hyperactivity and attention deficit disorder: motor disinhibition, restlessness, decreased concentration of attention (Kravtsova E.Yu., 1994). Frequent intractable absansy, as well as hyperactive behavior significantly reduce school performance. Impaired cognitive function may also be the result of improper treatment (use of barbiturates).
EEG. The main pathological EEG pattern is a peak-wave outbreak of 3 Hz (Fig. 1). The frequency of outbreaks increases with hyperventilation. At the time of the attack on EEG, a generalized bilaterial peak-wave activity of 3 Hz is recorded, clearly coinciding in time with the clinical manifestation of absans (with an average duration of 10 seconds). If outbreaks of peak-wave activity are short, no more than 5 seconds, then clinical manifestations of an attack are not observed.
In recent years, the presence of a typical bioaccipital slowdown has been established: periodic rhythmic theta-delta activity. This bioccipital slowdown in the background record is found in at least one third of children suffering from AED.
The frequency of this pattern is maximum in children aged 5-8 years (usually in boys); it is fixed with high consistency in various EEG recordings, and its presence or absence does not correlate with therapeutic efficacy. In most patients with cessation of attacks and the disappearance of peak-wave activity (clinical electroencephalographic remission), occipital theta-delta activity continues to be recorded. Apparently, this phenomenon has a genetic determinism.
At the same time, Egse-govac et al. (1995), after examining a group of patients suffering from absences and having an “occipital delta rhythm” on the EEG, came to the conclusion that rarely joining tonic-clonic seizures and a more favorable prognosis.