Version June 2024
| Mandatory | Alerts* | Exclusionary | |
| Seizures | Typical absence seizures | GTCS prior to or during the period of frequent absence seizures Staring spells with typical duration >30 s or with postictal confusion or fatigue Absences occurring less than daily in an untreated patient | Any of the following seizure types:
|
| EEG | Paroxysms of 3-Hz (range = 2.5 to 4 Hz) generalized spike-wave at the start of the absence (may have been obtained historically) | Consistently unilateral epileptiform discharges Lack of HV-activated 2.5 to 4-Hz generalized spike-wave in untreated patient who performs HV well for 3 min or longer Recording a typical staring spell without EEG correlate in a child with a history of 2.5 to 4-Hz generalized spike-wave Persistent slowing of the EEG background in the absence of sedating medication | Diffuse background slowing |
| Age at onset | 2 to 3 or 11 to 13 years | <2 or >13 years | |
| Development at onset | Mild intellectual disability | Moderate to profound intellectual disability | |
| Neurologic exam | Potentially relevant neurologic examination abnormalities, excluding incidental findings | ||
| Comorbidities | Cognitive stagnation or decline | ||
| Imaging | Potentially relevant abnormal neuroimaging, excluding incidental findings | ||
| Other studies: genetics, etc. | Low CSF glucose and/or SLC2A1 pathogenic variant (testing not needed in most cases but strongly recommended in children with onset at ≤3 years, microcephaly, and/or intellectual disability) | ||
| An MRI is not required for diagnosis. An ictal EEG is not required for diagnosis, provided the interictal study shows paroxysms of 2.5 to 4-Hz generalized spike-wave discharge during wakefulness. However, most untreated patients will have a recorded absence seizure on routine EEG. | |||
| Syndrome without laboratory confirmation: In resource-limited regions, CAE can be diagnosed in children without alerts who meet all other mandatory and exclusionary criteria, if they have a witnessed typical absence seizure with HV. | |||
GTCS: generalized tonic-clonic seizures; EEG: electroencephalogram; HV: hyperventilation; CSF: cerebrospinal fluid; MRI: magnetic resonance imaging; CAE: childhood absence epilepsy.
* Criteria that are absent in the vast majority of patients who have a syndrome, but rarely can be seen. Alerts alone would not exclude the syndrome but should cause the clinician to rethink the diagnosis and undertake further investigations to rule out other conditions. The more alerts that are present, the less confident one can be about diagnosis of a specific syndrome.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
