Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation.

Eyelid myoclonia with absences is recently included in the category of childhood epileptic syndromes. It is clinically characterized by brief seizures of eyelid myoclonia, sometimes followed by absences, and it is associated to EEG generalized discharges of polyspikes or polyspike-waves, which are triggered by eyes closure in a well-lit room. This epileptic syndrome probably has a genetic origin, as well as other genetic generalized epilepsies, in particular photosensitive epilepsies. We describe the case of a patient affected by eyelid myoclonia with absences, intellectual disability, and attention deficit hyperactivity disorder (ADHD), with a de novo mutation of the RORB gene (retinoid-related orphan receptor ß); this gene is involved in vivo in different neuronal processes among which are migration and differentiation. We suggest that its mutation in our patient can be considered the cause of the aberrant functioning of the cerebral cortex, which is clinically expressed by epilepsy and neurodevelopment disorders.

Startle epilepsy associated with infantile hemiplegia (SEIH): video-polygraphic features and long-term outcome.

OBJECTIVE: The aim of this study was to investigate the video-polygraphic features and the long-term outcome of epilepsy in two patients with startle epilepsy associated with infantile hemiplegia (SEIH). MATERIAL AND METHODS: Two patients (patient 1: a 14-year-old girl; patient 2: a 17 year-and-half-year-old girl), with hemiparesis and moderate mental retardation, underwent a full clinical and neurophysiological examination with video-polygraphic monitoring and recording of startle-evoked seizures. The follow-up was 9 years from epilepsy onset in patient 1, and 8 years from epilepsy onset in patient 2. RESULTS: Firstly, video-polygraphic recordings of startle-evoked seizures, triggered by unexpected auditory stimuli, showed tonic asymmetrical postures with ictal EEG characterized by an abrupt and diffuse electrodecremental pattern or a seizure discharge predominant over the vertex and anterior regions controlateral to the posturing limbs. Electromyogram recording showed a prevalent involvement of proximal muscles with a concomitant tachycardia and apnoea. In particular, in patient 1 ictal heart rate was high, with persisting tachycardia for 60-120 s after the end of seizures. Secondly, a high seizure frequency persisted throughout the course of the disease, as seizures were medically refractory to all currently available anti-epileptic drugs. CONCLUSIONS: The long-term outcome of epilepsy in SEIH, with constantly high seizure frequency, suggests an early surgical intervention, avoiding years with unsuccessful drug treatments and poor quality of life.

Modifiable factors associated with improved cardiac arrest survival in a multicenter basic life support/defibrillation system: OPALS Study Phase I results. Ontario Prehospital Advanced Life Support.

STUDY OBJECTIVES: This study was conducted to identify modifiable factors associated with survival for prehospital cardiac arrest in a large, multicenter EMS system with basic life support/defibrillation (BLS-D) level of care. METHODS: This observational cohort study constitutes Phase I of the 3-phase Ontario Prehospital Advanced Life Support (OPALS) Study. Included were all adults who had cardiac arrest before EMS arrival in 21 urban/suburban communities that operate under the jurisdiction of 1 ambulance services branch, have 911 telephone service, and provide ambulance defibrillation but no prehospital advanced life support (ALS). Central dispatch and ambulance records were reviewed according to the Utstein guidelines. Associations between multiple patient and EMS factors and survival to discharge were assessed by univariate then stepwise logistic regression analyses. RESULTS: From January 1, 1991, to January 31, 1995, 5,335 eligible patients were treated. Of these, 46.8% of cardiac arrests were witnessed by citizens, 14.5% received bystander CPR, 25.6% received CPR by fire or police, and 38.2% had an initial rhythm of ventricular fibrillation/ventricular tachycardia (VF/VT). The mean interval from call received to vehicle stopped was 6.7 minutes. Survival was 3.5% overall and 8.8% for VF/VT. Multivariate analysis found the following factors to be independently associated with survival (odds ratio with 95% confidence intervals): age.81 (. 73,.89), bystander-witnessed arrest 4.05 (2.78, 5.90), bystander CPR 2.98 (2.07, 4.29), CPR by fire or police 2.20 (1.46, 3.31), and response interval call received to vehicle stopped.76 (.71,.82). CONCLUSION: This represents the largest multicenter BLS-D study of prehospital cardiac arrest yet conducted and clearly indicates that patient survival may be improved by optimization of EMS response intervals, bystander CPR, as well as first-responder CPR by fire or police.

The Ontario Prehospital Advanced Life Support (OPALS) Study: rationale and methodology for cardiac arrest patients.

The Ontario Prehospital Advanced Life Support Study represents the largest prehospital study yet conducted, worldwide. This study will involve more than 25,000 cardiac arrest, trauma, and critically ill patients over an 8-year period. The study will evaluate the incremental benefit of rapid defibrillation and prehospital Advanced Cardiac Life Support measures for cardiac arrest survival and the benefit of Advanced Life Support for patients with traumatic injuries and other critically ill prehospital patients. This article describes the OPALS study with regard to the rationale and methodology for cardiac arrest patients.