Learn More
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5(More)
Over the last two decades, the importance of executive functions in successful adaptive living has been increasingly recognized. Hence, investigation of executive functioning has become a core component of neuropsychological assessment. At present, correct identification is seen as crucial to ensuring adequate treatment, compensation and support. It is(More)
A 3-stage model of intervention is used to contrast the philosophy and treatment practices of 2 behavioral approaches to behavior disorder following traumatic brain injury. The first referred to here as the Operant Neurobehavioral Approach developed from neuropsychology and learning theory. The second referred to as the Relational Neurobehavioral Approach(More)
  • Elizabeth Tighe, Leonard Saxe, Raquel Magidin De Kramer, Daniel Parmer, Begli Nursahedov, David Manchester +7 others
  • 2013
This report could not have been developed without the assistance of a team of researchers. The authors are particularly grateful to the extraordinary work of other members of our meta-analysis team: Their commitment to the project, their attention to detail in data mining and analysis has been critical to the success of this project. We are also(More)
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5(More)
Research in psychiatric settings has found that staff attribute the majority of in-patient aggression to immediate environmental stressors. We sought to determine if staff working with persons with brain injury-related severe and chronic impairment make similar causal attributions. If immediate environmental stressors precipitate the majority of aggressive(More)
A forensic peer group programme adapted for bullying behaviour and antisocial attitudes in three young men with traumatic brain injury (TBI) is presented. Three TBI clients who had previously been resistant to an intensive neurobehavioural rehabilitation residential programme were enrolled into the EQUIP programme. EQUIP focused on teaching pro-social(More)
  • 1