P2.3 – Neuropsychological assessment of NEOCYST patients

Responsible Center

Project management:

Universität Gießen/Marburg

Primary Tasks and Objectives

The sub-project P2.3 attends to the systematic collection and characterization of neuropsychological symptoms in children suffering from polycystic kidney disease. A two-level neuropsychological assessment will be conducted. First, questionnaires (demographic data, medical history, and psychopathology) as well as intelligence diagnostics will be conducted (expenditure of time: from 30 to 120 minutes). Children or adolescents who exceed a cut-off score in the questionnaires will be invited to a second, more comprehensive diagnostic assessment. The second assessment is a voluntary service for all affected families. Families will be offered a clinical routine examination in the Department for Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg, which will be conducted to appraise the anomalies found in the screening in greater depth. Families will be counseled intensively and, if necessary, supported to launch additional therapeutic interventions.

The objective of this study is the comprehensive assessment of the neuropsychological phenotype and the establishment of reliable genotype-phenotype-correlations. From this derives a deeper knowledge of the disease, and early diagnostic offerings for children suffering from polycystic kidney disease can be developed to achieve an improvement in quality of life on a long-term basis for the affected families.

Inclusion criteria: All children and adolescents suffering from polycystic kidney disease with intragenic HNF1B mutations and patients with non-HNF1B mutations with polycystic kidney disease/ciliopathy aged from one to 24 years. Parents should have sufficient knowledge of the German language to complete the questionnaires.

Leading investigators

	Prof. Dr. med. Stefanie Weber Director of University Children’s Hospital, Director of the Center for Pediatric Nephrology, University of Marburg Principal investigator for the HNF1ß – register and the neuropsychological assessment of NEOCYST patients (P2.3) The group of S. Weber in Marburg has successfully been working on the biology and genetics of renal development for many years. S. Weber established the GPN-supported HNF1B registry, which has been included in the NEOCYST network. Empowered by the ESPN CAKUT Working Group, S. Weber is working on the implementation of a European registry of familial CAKUT cases (EURECA) including children with cystic kidney disease.
	Prof. Dr. phil. Inge Kamp-Becker Senior psychologist, professor for Autism Spectrum Disorders in the Department for Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg Principal investigator for the neuropsychological assessment of NEOCYST patients (P2.3) I. Kamp-Becker and her team have demonstrated substantial expertise in diagnostic, differential diagnostic and treatment of neurodevelopmental disorders for more than 15 years. Focal points of her clinical work and research are the early detection, differential diagnostics and treatment of autism spectrum disorder (ASD). She coordinates the German research network ASD-Net, which aims to develop diagnostic instruments and therapeutic strategies through fundamental and clinical research. The multi-disciplinary ASD-Net includes prestigious experts, the greatest German cohort of children, adolescents and adults with autism spectrum disorder as well as genetic and neurobiological research strategies.
	Prof. Dr. med. Katja Becker Director of Department for Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Marburg Principal investigator for the neuropsychological assessment of NEOCYST patients (P2.3) K. Becker is head of Department for Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy in Marburg. She has a longstanding expertise in longitudinal studies on children at high risk for psychiatric disorders, gene-environment interactions as well as etiology, diagnostics, course and therapy in different child psychiatric disorders. She is founding member of the German network for anorexia nervosa in minors and acts as consortium member and principal investigator in the BMBF-financed multi-center studies ESCA (Evidence-based, stepped-care of ADHD along the life span) and Pro-HEAD (Promoting Help-Seeking by E-Technology in Adolescents with Mental Health Problems). Focal points of her research are the etiology, diagnostics and therapy of ADHD in infants, children and adolescents.
	Dipl. Psych. Clara Nittel C. M. Nittel is a certified psychologist and psychotherapist (behavioral therapy) and research assistant in the subproject 2.3. She coordinates the neuropsychological assessments, setup, organization and maintenance of the data management as well as the entry and analysis of the data of the neuropsychological assessments.