Evaluation des Nationalen Aktionsplans der Bundesregierung zur Umsetzung der UN-Behindertenrechtskonvention: Abschlussbericht

Mit dem im Juni 2011 vom Bundeskabinett beschlossenen Nationalen Aktionsplan (NAP) zur Umsetzung der UN-Behindertenrechtskonvention (UN-BRK) wurde erstmals eine behindertenpolitische Gesamtstrategie verabschiedet, die politikfeldübergreifend die Ziele und Maßnahmen zur Umsetzung der Konvention auf Bundesebene zusammenführt. Im vorliegenden Gutachten werden sowohl die inhaltliche Ausgestaltung des NAP - d.h. sein konzeptioneller Aufbau und die enthaltenen Maßnahmen - als auch die Rolle der verschiedenen Akteure sowie die Prozesse während der Entwicklung und bisherigen Umsetzung des NAP im Kontext der Anforderungen der UN-BRK untersucht. Das Gutachten beschäftigt sich zudem mit der Frage, inwiefern das Thema Wirkungsanalyse im gegenwärtigen NAP bereits verankert ist und umgesetzt wird

Abschlussbericht: Evaluation der Niedersächsischen Aktionspläne Inklusion - Ein gemeinsames Projekt der Prognos AG und des Deutschen Instituts für Menschenrechte

Im Auftrag des Niedersächsichen Ministeriums für Soziales, Gesundheit und Gleichstellung haben die Prognos AG und die Monitoring-Stelle UN-Behindertenrechtskonvention des Deutschen Instituts für Menschenrechte die Niedersächsischen Aktionspläne Inklusion untersucht und Empfehlungen zur Fortschreibung abgegeben

The Functional DRD3 Ser9Gly Polymorphism (rs6280) Is Pleiotropic, Affecting Reward as Well as Movement

Abnormalities of motivation and behavior in the context of reward are a fundamental component of addiction and mood disorders. Here we test the effect of a functional missense mutation in the dopamine 3 receptor (DRD3) gene (ser9gly, rs6280) on reward-associated dopamine (DA) release in the striatum. Twenty-six healthy controls (HCs) and 10 unmedicated subjects with major depressive disorder (MDD) completed two positron emission tomography (PET) scans with [11C]raclopride using the bolus plus constant infusion method. On one occasion subjects completed a sensorimotor task (control condition) and on another occasion subjects completed a gambling task (reward condition). A linear regression analysis controlling for age, sex, diagnosis, and self-reported anhedonia indicated that during receipt of unpredictable monetary reward the glycine allele was associated with a greater reduction in D2/3 receptor binding (i.e., increased reward-related DA release) in the middle (anterior) caudate (p<0.01) and the ventral striatum (p<0.05). The possible functional effect of the ser9gly polymorphism on DA release is consistent with previous work demonstrating that the glycine allele yields D3 autoreceptors that have a higher affinity for DA and display more robust intracellular signaling. Preclinical evidence indicates that chronic stress and aversive stimulation induce activation of the DA system, raising the possibility that the glycine allele, by virtue of its facilitatory effect on striatal DA release, increases susceptibility to hyperdopaminergic responses that have previously been associated with stress, addiction, and psychosis

Evaluation der Ergänzenden unabhängigen Teilhabeberatung

Im Jahr 2018 startete die modellhafte Einführung der Ergänzenden unabhängigen Teilhabeberatung (EUTB®) nach § 32 Neuntes Buch Sozialgesetzbuch (SGB IX). Mit ihr wurden rund 500 Angebote in ganz Deutschland gefördert, in denen Menschen mit Behinderungen und ihre Angehörigen über Fragen der Rehabilitation und Teilhabe informiert und beraten werden. Die wissenschaftliche Begleitung der EUTB® adressiert grundsätzliche Fragen zu den Umsetzungs- und Wirkungsbedingungen der EUTB®. Ihre Ergebnisse zeigen, dass es der EUTB® auftragsgemäß gelungen ist, ein breit akzeptiertes Informations- und Beratungsangebot zu entwickeln, das die vorhandene Beratungsinfrastruktur im Bereich Rehabilitation und Teilhabe ergänzt. Im Zuge ihrer Etablierung konnte für die EUTB® - in der Regie der Fachstelle Teilhabeberatung - ein umfassendes System der Qualifizierung und Qualitätssicherung entwickelt werden, so dass zum Ende der Förderphase einheitliche Qualitätsstandards für die Beratung vorliegen und weiterentwickelt werden können. Die Zufriedenheit der Ratsuchenden mit der Beratung durch die EUTB® ist hoch. Die Klärung ihrer Anliegen und die Erreichung der wichtigsten Ziele gelingen nach ihrer Selbsteinschätzung häufig. Damit kann die EUTB® nachweislich zur Stärkung der Selbstbestimmung und gesellschaftlichen Teilhabe der Ratsuchenden beitragen. Die Beratung von Betroffenen für Betroffen als "Peer-Beratung" trägt zu einer wesentlichen Unterstützung des Angebots bei

Roadmap for a precision-medicine initiative in the Nordic region

The Nordic region, comprising primarily Denmark, Estonia, Finland, Iceland, Norway and Sweden, has many of the necessary characteristics for being at the forefront of genome-based precision medicine. These include egalitarian and universal healthcare, expertly curated patient and population registries, biobanks, large population-based prospective cohorts linked to registries and biobanks, and a widely embraced sense of social responsibility that motivates public engagement in biomedical research. However, genome-based precision medicine can be achieved only through coordinated action involving all actors in the healthcare sector. Now is an opportune time to organize scientists in the Nordic region, together with other stakeholders including patient representatives, governments, pharmaceutical companies, academic institutions and funding agencies, to initiate a Nordic Precision Medicine Initiative. We present a roadmap for how this organization can be created. The Initiative should facilitate research, clinical trials and knowledge transfer to meet regional and global health challenges.Non peer reviewe

Perampanel as Precision Therapy in Rare Genetic Epilepsies

Objective: Perampanel, an antiseizure drug with AMPA-receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Special interest holds epilepsies with loss of GABA inhibition (e.g. SCN1A), overactive excitatory neurons (e.g. SCN2A, SCN8A ), and variants in glutamate receptors (e.g. GRIN2A). We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to detect possible subgroups with high efficacy. Methods: A multicenter project based on the framework of NETRE (Network for Therapy in Rare Epilepsies), a web of pediatric neurologists treating rare epilepsies. Retrospective data from patients with genetic epilepsies treated with perampanel was collected. Outcome measures were responder rate (50% seizure reduction), and percentage of seizure reduction after 3 months of treatment. Subgroups of etiologies with high efficacy were identified. Results: 137 patients, with 79 different etiologies, aged 2 months-61 years (mean 15.48±9.9) were enrolled. The mean dosage was 6.45±2.47 mg, and treatment period was 2.0±1.78 years (1.5 months-8 years). 62 patients (44.9%) were treated for &gt;2 years. 98 patients (71%) were responders, and 93 (67.4%) chose to continue therapy. The mean reduction in seizure frequency was 56.61±34.36%. 60 patients (43.5%) sustained over 75% reduction in seizure frequency, including 38 (27.5%) with &gt; 90% reduction in seizure frequency. The following genes showed high treatment efficacy: SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, POLG1, POLG2, NEU1. 11/17 (64.7%) of patients with SCN1A, 35.3% of which had over 90% seizure reduction. Other etiologies remarkable for over 90% reduction in seizures were GNAO1 and PIGA. 14 patients had a CSWS EEG pattern and in 6 subjects perampanel reduced epileptiform activity. Significance: Perampanel demonstrated high safety and efficacy in patients with rare genetic epilepsies, especially in SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1 and POLG, suggesting a targeted effect related to glutamate transmission

Response Properties of Human Amygdala Subregions: Evidence Based on Functional MRI Combined with Probabilistic Anatomical Maps

The human amygdala is thought to play a pivotal role in the processing of emotionally significant sensory information. The major subdivisions of the human amygdala—the laterobasal group (LB), the superficial group (SF), and the centromedial group (CM)—have been anatomically delineated, but the functional response properties of these amygdala subregions in humans are still unclear. We combined functional MRI with cyto-architectonically defined probabilistic maps to analyze the response characteristics of amygdala subregions in subjects presented with auditory stimuli. We found positive auditory stimulation-related signal changes predominantly in probabilistically defined LB, and negative responses predominantly in SF and CM. In the left amygdala, mean response magnitude in the core area of LB with 90–100% assignment probability was significantly larger than in the core areas of SF and CM. These differences were observed for pleasant and unpleasant stimuli. Our findings reveal that the probabilistically defined anatomical subregions of the human amygdala show distinctive fMRI response patterns. The stronger auditory responses in LB as compared with SF and CM may reflect a predominance of auditory inputs to human LB, similar to many animal species in which the majority of sensory, including auditory, afferents project to this subdivision of the amygdala. Our study indicates that the intrinsic functional differentiation of the human amygdala may be probed using fMRI combined with probabilistic anatomical maps