In recent years, the field of neuropsychological genetics and genomics is gradually progressing from a predominantly diagnostic orientation (e.g., structure-function, genotype-phenotype associations) to a more treatment oriented approach. Knowledge on the genetic, neurobiological and cognitive mechanisms is increasingly being translated in therapeutic strategies that stimulate adaptive change in the patient and/or promote specific compensatory circumstances in the patient’s environment. Via clinical research on four different rare neurodevelopmental disorders, i.e., Noonan syndrome, Prader-Willi syndrome, Kleefstra syndrome, and Witteveen-Kolk syndrome, in this symposium, next to the presentation of empirical findings, various approaches to treatment and clinical management will be reviewed and reflected upon.
In the first presentation on problematic executive functioning and social cognition in children and adults with Noonan syndrome spectrum disorders, an eHealth training will be investigated as to its potential for cognitive change. This is followed by a study on disturbed sensory information processing in adults with Prader-Willi syndrome and the putative impact for these individuals of incorporating variables from the sensory processing domain in the treatment of this patient group. After a reflective intermezzo on the role of the general or primary care practitioner in the early recognition and treatment of genetic neurodevelopmental disorders, the fourth presentation concerns the clinical management of the so called ‘regressive phenotype’ in Kleefstra syndrome that, however, may actually be regarded as a phenomenon in the psychosis-spectrum rather than an irreversible loss of skills. The design and realisation of the highly personalized treatment program for the severe challenging behaviours of a patient with Witteveen-Kolk Syndrome forms the final presentation. The symposium will be concluded with a discussion of the presented findings in terms of their potential for the further development of cognitive phenotype-driven therapeutic interventions.
Jennifer Kramer, Vincent van Gogh Centre of Excellence for Psychiatry, Venray, Netherlands Renée Roelofs, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Ellen Wingbermühle, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Sarah Pieters, Radboud University, Behavioural Science Institute, Nijmegen, Netherlands Jos Egger, Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands
Anja Bos-Roubos, Vincent van Gogh Centres of Excellence for Psychiatry, Venray, Netherlands Ellen Wingbermühle, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Rosalie Brinke, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Laura Graaff, Erasmus University Medical Centre, Department of Internal Medicine, Rotterdam, Netherlands Jos Egger, Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands
Elisa Houwink, Mayo Clinic, Department of Family Medicine, Rochester, United States Eric Klee, Mayo Clinic, College of Medicine and Science, Rochester, United States John Presutti, Mayo Clinic, Department of Family Medicine, Rochester, United States
Joost Kummeling, Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands Karlijn Vermeulen, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Tjitske Kleefstra, Erasmus University Medical Centre, Department of Genetics, Rotterdam, Netherlands Jos Egger, Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands
Vincent Janssen, Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands Linde Van Dongen, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Maud Custers, Vincent van Gogh Centres of Excellence for Neuropsychiatry, Venray, Netherlands Marjolein Willemsen, Radboud University Medical Centre, Department of Human Genetics, Nijmegen, Netherlands Tjitske Kleefstra, Erasmus University Medical Centre, Department of Genetics, Rotterdam, Netherlands Jos Egger, Radboud University, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, Netherlands
