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Opiate addiction is common among offenders, and many opiate-dependent lawbreakers are treated in the correctional system according to § 64 STGB. While substitution treatment in prisons has become common practice, substitution treatment in forensic hospitals in the traditionally abstinence-oriented prison system is controversial and also varies from region to region. Basic data on this are lacking so far. The problem is discussed against the background of a current expert opinion case. Current figures from a large forensic hospital in Munich-East show that almost 30% of the patients are treated with substitutes (n=186). The problem of substitution treatment in the prison system is discussed., Competing Interests: Disclosure The authors report no conflicts of interest in this work., (Thieme. All rights reserved.)

The psychopharmacological application practice in forensic and general psychiatry should be investigated comparatively.The 2014-2019 Pharmaco-Epidemiology and Vigilance (Pharmako-EpiVig) surveys of the Bavarian Institute for Data, Analysis and Quality Assurance (BIDAQ) from forensic psychiatry (n = 4,590) and general psychiatry (n = 5,136) of the Isar-Amper-Klinikum Munich East were evaluated.Mean age and diagnosis distribution of the patient clientele differed, as did substance selection and dosage, which was almost consistently higher in forensic psychiatry. In schizophrenic forensic patients, clozapine was given most frequently. In both specialties, the frequent use of valproate was striking.The results could be interpreted as an indication that forensic patients have more severe and refractory illnesses, and that in clinical practice overall a symptom-related anti-aggressive treatment seems to be significant., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and atypical RE (ARE). Here we report on whole-exome sequencing of 194 unrelated patients with RE/ARE and 567 ethnically matched population controls. We identified an exome-wide significantly enriched burden for deleterious and loss-of-function variants only for the established RE/ARE gene GRIN2A. The statistical significance of the enrichment disappeared after removing ARE patients. For several disease-related gene-sets, an odds ratio >1 was detected for loss-of-function variants.

Objective: To test whether mutations in γ-aminobutyric acid type A receptor (GABAA -R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its atypical variants (ARE)., Methods: We performed exome sequencing to compare the frequency of variants in 18 GABAA -R genes in 204 European patients with RE/ARE versus 728 platform-matched controls. Identified GABRG2 variants were functionally assessed for protein stability, trafficking, postsynaptic clustering, and receptor function., Results: Of 18 screened GABAA -R genes, we detected an enrichment of rare variants in the GABRG2 gene in RE/ARE patients (5 of 204, 2.45%) in comparison to controls (1 of 723, 0.14%; odds ratio = 18.07, 95% confidence interval = 2.01-855.07, p = 0.0024, pcorr  = 0.043). We identified a GABRG2 splice variant (c.549-3T>G) in 2 unrelated patients as well as 3 nonsynonymous variations in this gene (p.G257R, p.R323Q, p.I389V). Functional assessment showed reduced surface expression of p.G257R and decreased GABA-evoked currents for p.R323Q. The p.G257R mutation displayed diminished levels of palmitoylation, a post-translational modification crucial for trafficking of proteins to the cell membrane. Enzymatically raised palmitoylation levels restored the surface expression of the p.G257R variant γ2 subunit., Interpretation: The statistical association and the functional evidence suggest that mutations of the GABRG2 gene may increase the risk of RE/ARE. Restoring the impaired membrane trafficking of some GABRG2 mutations by enhancing palmitoylation might be an interesting therapeutic approach to reverse the pathogenic effect of such mutants., (© 2015 American Neurological Association.)

Rolandic epilepsy (RE) and its atypical variants (atypical rolandic epilepsy, ARE) along the spectrum of epilepsy-aphasia disorders are characterized by a strong but largely unknown genetic basis. Two genes with a putative (ELP4) or a proven (SRPX2) function in neuronal migration were postulated to confer susceptibility to parts of the disease spectrum: the ELP4 gene to centrotemporal spikes and SRPX2 to ARE. To reexamine these findings, we investigated a cohort of 280 patients of European ancestry with RE/ARE for the etiological contribution of these genes and their close interaction partners. We performed next-generation sequencing and single-nucleotide polymorphism (SNP)-array based genotyping to screen for sequence and structural variants. In comparison to European controls we could not detect an enrichment of rare deleterious variants of ELP4, SRPX2, or their interaction partners in affected individuals. The previously described functional p.N327S variant in the X chromosomal SRPX2 gene was detected in two affected individuals (0.81%) and also in controls (0.26%), with some preponderance of male patients. We did not detect an association of SNPs in the ELP4 gene with centrotemporal spikes as previously reported. In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE., (Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.)

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 × 10(-18), Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS (P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.

This case report concerns two schizophrenic patients with "psychogenic" polydipsia, without any underlying somatic disease. Although case A showed a correlation between excessive water intake and severity of psychomotor disturbance, this could not be safely diagnosed as a water intoxication because the sodium serum level was normal. The lowered sodium serum level in case B, however, allowed us to conclude that the manifestation of grand mal was a sign of a genuine water intoxication. 27 casuistic studies on 67 patients with the syndrome of self-induced water intoxication in schizophrenics are then reviewed. Finally, a variety of diagnostic and pathogenetic problems of this syndrome is discussed, with special reference to the role of inadequate ADH secretion.

The use of guanidine hydrochloride is reported in the treatment of 4 cases of Werdnig-Hoffmann disease. Improvement was achieved in two cases. Amelioration was initially observed in the third patient, but a relapse occurred during temporary discontinuation of therapy and the disease progressed, albeit at a slower rate, after resumption of therapy. The final case was a terminal one in which, however, slight temporary improvement occurred in response to therapy. A maximum dosage of 0.4 g (based on the assumption of an average body weight of 15 kg in these children) was reached by gradual increments. Side effects like shortlasting vomiting were observed only in case 1. The pharmacological action of guanidine hydrochloride is discussed. According to Otsuka and Endon the mechanism of action may be based on an increase in the end-plate potential amplitude. However, an augmented supply of spinal transmitters may also play a role in the mediation to the pharmacological action.

In 62 out-patients under maintenance treatment with lithium, thyroid function was evaluated. 21% of the patients exhibited goiter II0; 34% showed elevated thyrotrophin (TSH) serum levels; in 42% exaggerated TSH response to intravenous thyrotrophin releasing hormone (TRH) was found.