Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked FMR1 gene. Work in animal models has described altered synaptic plasticity, a result of the up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling, as a putative downstream effect. Post hoc analysis of a randomized, placebo-controlled, crossover phase 2 trial suggested that the selective mGluR5 antagonist mavoglurant improved behavioral symptoms in FXS patients with completely methylated FMR1 genes. We present the results of two phase 2b, multicenter, randomized, double-blind, placebo-controlled, parallel-group studies of mavoglurant in FXS, designed to confirm this result in adults (n = 175, aged 18 to 45 years) and adolescents (n = 139, aged 12 to 17 years). In both trials, participants were stratified by methylation status and randomized to receive mavoglurant (25, 50, or 100 mg twice daily) or placebo over 12 weeks. Neither of the studies achieved the primary efficacy end point of improvement on behavioral symptoms measured by the Aberrant Behavior Checklist-Community Edition using the FXS-specific algorithm (ABC-C(FX)) after 12 weeks of treatment with mavoglurant. The safety and tolerability profile of mavoglurant was as previously described, with few adverse events. Therefore, under the conditions of our study, we could not confirm the mGluR theory of FXS nor the ability of the methylation state of the FMR1 promoter to predict mavoglurant efficacy. Preclinical results suggest that future clinical trials might profitably explore initiating treatment in a younger population with longer treatment duration and longer placebo run-ins and identifying new markers to better assess behavioral and cognitive benefits.
In modern psychotherapy, digital health technology offers advanced and personalized therapy options, increasing availability as well as ecological validity. These aspects have proven to be highly relevant for children and adolescents with obsessive-compulsive disorder (OCD). Exposure and Response Prevention therapy, which is the state-of-the-art treatment for OCD, builds on the reconstruction of everyday life exposure to anxious situations. However, while compulsive behavior predominantly occurs in home environments, exposure situations during therapy are limited to clinical settings. Telemedical treatment allows to shift from this limited exposure reconstruction to exposure situations in real life.In the SSTeP KiZ study (smart sensor technology in telepsychotherapy for children and adolescents with OCD), we combine video therapy with wearable sensors delivering physiological and behavioral measures to objectively determine the stress level of patients. The setup allows to gain information from exposure to stress in a realistic environment both during and outside of therapy sessions.In a first pilot study, we explored the sensitivity of individual sensor modalities to different levels of stress and anxiety. For this, we captured the obsessive-compulsive behavior of five adolescents with an ECG chest belt, inertial sensors capturing hand movements, and an eye tracker.Despite their prototypical nature, our results deliver strong evidence that the examined sensor modalities yield biomarkers allowing for personalized detection and quantification of stress and anxiety. This opens up future possibilities to evaluate the severity of individual compulsive behavior based on multivariate state classification in real-life situations.Clinical relevance-Our results demonstrate the potential for efficient personalized psychotherapy by monitoring physiological and behavioral changes with multiple sensor modalities in ecologically valid real-life scenarios. *This work is funded by the Bundesministerium für Gesundheit (BMG) project SSTeP KiZ (2520DAT700)
BackgroundAutism spectrum disorder (ASD) is characterized by impaired cognitive and social skills, including emotional dysregulation, and symptoms have been suspected to partly arise from impaired formation of memory representations regulating these behaviours. Sleep, which is subjectively impaired in ASD, is critical for forming long‐term memories and abstracted gist‐based representations. We expected a generally reduced memory benefit from sleep in children with ASD, and a diminished enhancement of gist representations, in particular.MethodsWe compared effects of sleep on memory consolidation between boys (9–12 years) with ASD (n = 21) and typically developing (TD, n = 20) boys, matched for age and IQ, in a within‐subjects crossover design. We employed an emotional picture recognition task and the Deese–Roediger–McDermott (DRM) word list task for assessing gist memory formation in the emotional and nonemotional domain, respectively. Learning took place before retention intervals of nocturnal sleep and daytime wakefulness, and retrieval was tested afterwards.ResultsSurprisingly, on the DRM task, children with ASD showed an enhanced sleep‐dependent formation of gist‐based memory (i.e. more recall of ‘critical lure words’ after sleep compared to wakefulness) than TD children, with this effect occurring on top of a diminished veridical word memory. On the picture recognition task, children with ASD also showed a stronger emotional enhancement in memory (i.e. relatively better memory for negative than neutral pictures) than TD children, with this enhancement occurring independent of sleep. Sleep polysomnography was remarkably comparable between groups.ConclusionsChildren with ASD show well‐preserved sleep‐dependent memory consolidation. Enhanced gist memory formation in these children might reflect a compensatory response for impairments at earlier stages of memory processing, that is during encoding.
Since the addicted persons often show little motivation for a behavioural change we consider it a promising approach to treat and train their relatives with the aim of increasing the motivation for a behavioural change of the addicted person.
Zusammenfassung. Für die Diagnostik der Internetabhängigkeit liegen inzwischen Vorschläge zur Aufnahme des Störungsbildes in das DSM-V vor. Mit der ,Compulsive Internet Use Scale’ (CIUS) existiert für den angloamerikanischen Sprachraum eine Konzeptualisierung zur psychometrischen Erfassung einer abhängigen Internetnutzung. Ziel der vorliegenden Arbeit war die Untersuchung der Faktorenstruktur der deutschen Version der CIUS mittels einer konfirmatorischen Faktorenanalyse sowie der psychometrischen Kennwerte. N = 2.506 Probanden nahmen an der Onlineuntersuchung teil. Erhoben wurde die deutsche Version der CIUS und die tägliche Internetnutzungsdauer. Für die deutsche Version der CIUS konnte hierbei die Ein-Faktorenstruktur bestätigt werden. Es kann geschlussfolgert werden, dass auch die deutsche Version der CIUS ein kurzes und reliables Screeninginstrument zur Erfassung einer auffälligen Internetnutzung ist.
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