[An Explorative Study about Educational Pathways after a Moderate and Severe Traumatic Brain Injury]. / Eine explorative Studie zu den schulischen Verlaufswegen nach einem mittelschweren bis schweren Schädel-Hirn-Trauma.

PURPOSE: Empirical data on educational pathways after a traumatic brain injury (TBI) are rare and obsolete. Less is known about the success of executed initial recommendations and the following school career. This study examines the course of school career after a moderate to severe TBI. In particular, based on the school recommendations at the end of inpatient rehabilitation, the linearity or nonlinearity of the processes and the long-term success in the educational system should be understood. METHODS: The sample included 49 students. We analysed descriptive clinical data, school-related recommendations and standardised questionnaires for evaluating scholastic reintegration. 2-9 years later a standardized questionnaire was used to evaluate the outcome and success of the course in the school system. The analysis is based on descriptive statistics due to Stata 15.1. RESULTS: 59,2% of the respondents returned in their former school class immediately after hospital discharge. 24,5% initially changed the educational institution. All in all, there were changes and ruptures in more than a half of the cases as aftereffect of the TBI. CONCLUSION: The results of the study are discussed regarding the discontinuities in school careers. The study confirms a high level of breaks and nonlinearity in the scholastic pathway after a moderate to severe TBI. Recommendations of the rehabilitation clinic appear helpful, but they are no guarantee for an obstacle-free re-education. Professional guidance in the process of school re-habilitation is recommended. The results of the study verify the requirement of a professional, systemic and individualized follow-up care in each particular school context. More empirical research about courses of TBI in the school system is needed to identify the aspects, which increase the risks of disruptions or prevents the fitting in the school career and to identify the aspects which support the success of fitting for the individual student.

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a pathophysiologic relationship between the various epilepsies arising from the rolandic region. The etiology of these epilepsies is elusive, but a genetic component is assumed given the heritability of the characteristic electrographic trait. Herein we report on three patients with intellectual disability, various dysmorphic features, and epilepsies involving the rolandic region, carrying previously undescribed deletions in 16p13. The only gene located in the critical region shared by all three patients is GRIN2A coding for the alpha-2 subunit of the neuronal N-methyl-D-aspartate(NMDA) receptor.