Psy-GeneKids

Approximately 70% to 80% of rare diseases have a genetic etiology. Significantly more than half of those affected show (initial) symptoms in childhood. Those affected often have global developmental delay or intellectual disability. Approximately half of children and adolescents with intellectual disability meet the diagnostic criteria for at least one comorbid psychiatric disorder.

To date, there is little detailed information in the literature on the child and adolescent psychiatric phenotype of children and adolescents with rare syndromes. A professional psychiatric assessment could provide reliable information on the expected psychiatric phenotypes. Based on this, any necessary child and adolescent psychiatric support could be offered at an early stage. More detailed information on intellectual disability (e.g., severity, homogeneous or heterogeneous cognitive performance profile), information on the course of the disease (e.g., multiple psychotic episodes with deterioration of cognitive abilities or a rather mild course), and response to drug and non-drug therapies are highly relevant for those affected and their caregivers, but are currently hardly ever (systematically) recorded. Information on drug side effects is also clinically relevant. For example, it may be necessary to treat children and adolescents with neuroleptics due to self-directed and external aggression. A significant proportion of those treated experience significant weight gain as a result of medication. The underlying mechanisms of weight gain are not yet fully understood.

The UMEA² project Psy-GeneKids (Longitudinal, psychiatric phenotyping and multiomics characterization of children and adolescents with genetic syndromes), funded by the Federal Ministry of Research, Technology and Space (BMFTR), has the overarching goal of improving child and adolescent psychiatric care for children and adolescents with genetic syndromes. One subproject is initially focusing on collecting data and biomaterial (stool, blood, and saliva samples) with regard to weight development under neuroleptic treatment. The aim is to identify obesity-associated biological profiles that are associated with an increased likelihood of relevant weight gain under neuroleptic treatment. In a longitudinal study, the microbiome of selected patients with and without neuroleptic treatment will be sequenced using shotgun metagenomics analysis. The identified profiles may provide insight into the biological mechanisms underlying weight gain.