Cognitive outcomes following epilepsy in infancy: A longitudinal community-based study.

OBJECTIVE: Onset of epilepsy before 2 years of age is associated with poor cognitive outcome; however, the natural course of the range of epilepsies that occur at this age is unknown. The aim of this prospective community-based study was to investigate the neuropsychological development of infants with newly diagnosed epilepsy longitudinally and to identify the clinical factors that predict long-term impairment. METHODS: Sixty-six infants <24 months of age were enrolled in the baseline phase of this study; 40 were seen again at 1-year follow-up and 40 at 3-year follow-up. Children underwent a neurological and neuropsychological assessment at each time point. RESULTS: More than 55% of children demonstrated impaired cognitive functioning at each assessment, with a similar percentage showing impaired memory and attention at 3-year follow-up. Cognitive scores obtained at each time point were correlated. More than 20 seizures/seizure clusters prior to assessment and an abnormal neurologic examination predicted poor cognitive functioning at baseline, whereas continuing seizures and baseline cognitive score predicted 3-year intelligence quotient (IQ)/cognitive score. SIGNIFICANCE: These findings demonstrate the following: (1) infants who are performing poorly at baseline continue to display impaired development at follow-up, (2) these children are delayed across a range of neuropsychological functions, and (3) a high number of seizures close to initial diagnosis and continuing seizures at follow-up independently predict cognitive impairment. These findings help to identify those infants with new-onset epilepsy who are most at risk for poor developmental outcome and suggest that multimodal interventions should be instituted early in the course of the disorder to improve outcomes.

Critical evaluation of four different seizure detection systems tested on one patient with focal and generalized tonic and clonic seizures.

For long-term home monitoring of epileptic seizures, the measurement of extracerebral body signals such as abnormal movement is often easier and less obtrusive than monitoring intracerebral brain waves with electroencephalography (EEG). Non-EEG devices are commercially available but with little scientifically valid information and no consensus on which system works for which seizure type or patient. We evaluated four systems based on efficiency, comfort, and user-friendliness and compared them in one patient suffering from focal epilepsy with secondary generalization. The Emfit mat, Epi-Care device, and Epi-Care Free bracelet are commercially available alarm systems, while the VARIA (Video, Accelerometry, and Radar-Induced Activity recording) device is being developed by our team and requires offline analysis for seizure detection and does so by presenting the 5% or 10% (patient-specific) most abnormal movement events, irrespective of the number of seizures per night. As we chose to mimic the home situation, we did not record EEG and compared our results to the seizures reported by experienced staff that were monitoring the patient on a semicontinuous basis. This resulted in a sensitivity (sens) of 78% and false detection rate (FDR) of 0.55 per night for Emfit, sens 40% and FDR 0.41 for Epi-Care, sens 41% and FDR 0.05 for Epi-Care Free, and sens 56% and FDR 20.33 for VARIA. Good results were obtained by some of the devices, even though, as expected, nongeneralized and nonrhythmic motor seizures (involving the head only, having a tonic phase, or manifesting mainly as sound) were often missed. The Emfit mat was chosen for our patient, also based on user-friendliness (few setup steps), comfort (contactless), and possibility to adjust patient-specific settings. When in need of a seizure detection system for a patient, a thorough individual search is still required, which suggests the need for a database or overview including results of clinical trials describing the patient and their seizure types.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two mutations arose de novo, and two were familial. These findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency.

Polyarthritis and humeral epiphysial separation in an infant with acute disseminated histoplasmosis.

The case of an immunocompetent infant with disseminated histoplasmosis is described. The case is unusual in its clinical presentation in that it is dominated, apart from respiratory infection, by the presence of polyarthritis and complicated by epiphysial separation of both humeri. There was only little involvement of reticuloendothelial tissues. Treatment consisted of surgical correction and itraconazole.