Szemere E.,Swiss Epilepsy Center |
Szemere E.,Neuroscience Center Zurich |
Szemere E.,Foundations in Learning, Inc. |
Jokeit H.,Swiss Epilepsy Center |
Jokeit H.,Neuroscience Center Zurich
Quality of life (QoL) for people with epilepsy is considered worse than the condition's clinical and medical prognosis would predict. Quantity and quality of social interaction considerably determine QoL. Research shows that a significant proportion of patients with epilepsy experience difficulties with social functioning that is thought to be related to impaired QoL. The aim of this review article is to provide an evidence base for conceptualising and developing interventions to improve quality of life through social functioning, for adults with epilepsy. Previous and current research is considered initially with regards to why such difficulties arise and established interventions that address social competence and functioning are reviewed and explored from the field of schizophrenia, a condition also associated with similar difficulties in social cognition, cognition and negative symptoms. The paper considers the advantages and disadvantages of these interventions, the outcomes and emerging research in this area. Positive findings are found from interventional studies in schizophrenia such as the enhancing potential and generalisation of training in social cognition, the benefits of an integrated approach to improving social functioning and proposal of 'online' interaction approaches. These findings provide interesting and exciting directions for the ultimate goal towards interventions for the improvement of social functioning and quality of life in patients with epilepsy. This is of particular significance as at present there is currently no such dedicated program for people with epilepsy. © 2014 British Epilepsy Association. Source
Berger W.,University of Zurich |
Berger W.,Neuroscience Center Zurich |
Berger W.,Zurich Center for Integrative Human Physiology |
Kloeckener-Gruissem B.,University of Zurich |
And 2 more authors.
Progress in Retinal and Eye Research
During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions. Although belonging to the group of orphan diseases, they affect probably more than two million people worldwide. Most excitingly, treatment of a particular form of congenital retinal degeneration is now possible. A major advantage for treatment is the unique structure and accessibility of the eye and its different components, including the vitreous and retina. Knowledge of the many different eye diseases affecting retinal structure and function (night and colour blindness, retinitis pigmentosa, cone and cone rod dystrophies, photoreceptor dysfunctions, as well as vitreoretinal traits) is critical for future therapeutic development. We have attempted to present a comprehensive picture of these disorders, including biological, clinical, genetic and molecular information. The structural organization of the review leads the reader through non-syndromic and syndromic forms of (i) rod dominated diseases, (ii) cone dominated diseases, (iii) generalized retinal degenerations and (iv) vitreoretinal disorders, caused by mutations in more than 165 genes. Clinical variability and genetic heterogeneity have an important impact on genetic testing and counselling of affected families. As phenotypes do not always correlate with the respective genotypes, it is of utmost importance that clinicians, geneticists, counsellors, diagnostic laboratories and basic researchers understand the relationships between phenotypic manifestations and specific genes, as well as mutations and pathophysiologic mechanisms. We discuss future perspectives. © 2010 Elsevier Ltd. Source
Graser J.V.,University of Zurich |
Graser J.V.,Neuroscience Center Zurich |
Letsch C.,University of Zurich |
Letsch C.,ETH Zurich |
And 2 more authors.
Background: The 10-Meter Walk Tests (10MWT) and the 6-Minute Walk Test (6MinWT) are applied to assess gait capacity in paediatric patients. To better objectify changes in qualitative aspects of gait, temporo-spatial parameters like stride length or step symmetry could be simultaneously assessed with a GAITRite system. Reliability has not yet been evaluated in a heterogeneous sample of children with various neurological gait disorders such as is representative for paediatric neuro-rehabilitation. The aim of this study was to assess test-retest reliability of the 10MWT, the 6MinWT and simultaneously recorded gait parameters captured with the GAITRite system in children with neurological gait disorders. Methods: This is a cross-sectional study with two measurement time-points. Thirty participants (9 females; mean (standard deviation) age 13.0 (3.6) years, 10 with cerebral palsy, 6 after stroke, among other diagnoses) performed the 10MWT at preferred (10MWTpref) and maximum speed (10MWTmax) and the 6MinWT on two occasions (mean time interval: 7.0 (1.9) days). Relative reliability was quantified with an intra-class correlation coefficient (ICC); the measurement error reflecting absolute reliability was quantified with the standard error of measurement and the smallest real difference. Results: ICCs of timed walking tests (time measured with a stopwatch, step count for the 10MWT and walking distance for the 6MinWT) ranged from 0.89-0.97. ICCs of temporo-spatial gait parameters ranged from 0.81-0.95 (10MWTpref), from 0.61-0.90 (10MWTmax) and from 0.88-0.97 (6MinWT). In general, absolute reliability was greatest in the 6MinWT. Conclusion: Timed walking tests and temporo-spatial gait parameters obtained from the GAITRite system appear reliable in children with neurological gait disorders. However, especially in children with poorer walking ability, the reliability of temporo-spatial parameters might have been positively influenced, as unclear steps had to be removed using the GAITRite software. As absolute reliability is rather low, the responsiveness of these measures needs to be further evaluated. © 2016 Graser et al. Source
Anisimov V.N.,Moscow State University |
Herbst J.A.,University of Zurich |
Abramchuk A.N.,Luxoft |
Latanov A.V.,Moscow State University |
And 3 more authors.
The main obstacle for investigating vocal interactions in vertebrates is the difficulty of discriminating individual vocalizations of rapidly moving, sometimes simultaneously vocalizing individuals. We developed a method of recording and analyzing individual vocalizations in free-ranging animals using ultraminiature back-attached sound and acceleration recorders. Our method allows the separation of zebra finch vocalizations irrespective of background noise and the number of vocalizing animals nearby. © 2014 Nature America, Inc. Source
Schmid F.,University of Zurich |
Hiller T.,University of Zurich |
Korner G.,University of Zurich |
Glaus E.,University of Zurich |
And 4 more authors.
Human Gene Therapy
Splicing is an essential cellular process to generate mature transcripts from pre-mRNA. It requires the splice factor U1 small nuclear ribonucleoprotein (U1), which promotes exon recognition by base-pairing interaction with the splice donor site (SD). After U1 dissociation, exon recognition is maintained by U6 small nuclear ribonucleoproteins (U6). It has been shown that SD mutations lower the binding affinity of U1 and cause splice defects in about 10% of patients with monogenetic diseases. U1 isoforms specifically designed to bind the mutated SD with increased affinity can correct these splice defects. We investigated the applicability of this gene therapeutic approach for different mutated SD positions. A minigene-based splicing assay was established to study a typical SD derived from the gene BBS1. We found that mutations at seven SD positions caused splice defects. In four cases, mutation-adapted U1 isoforms completely corrected these splice defects. Partial correction was found for splice defects induced by the mutation at SD position +5. The limited therapeutic efficacy at this position was alleviated by applying a combined treatment with mutation-adapted U1 and U6. The sequence complementarity between U6 and three SD positions (+4, +5,and +6) was relevant for the outcome of the therapy. Between 30 and 100% of the normal transcripts can be restored. The treatment significantly decreased both exon skipping and intron retention. Massive missplicing of off-target transcripts was not detected. Our study helps to assess the therapeutic efficacy of mutation-adapted U snRNAs in gene therapy and illustrates their strong potential to correct splice defects, which cause many different inherited conditions. © Copyright 2013, Mary Ann Liebert, Inc. 2013. Source