- Sophie van Rijn
In the search for determinants of risk and protective factors for problem behaviour unique insights can be obtained by studying genetic syndromes. In contrast to psychiatric conditions, which are diagnosed based on a collection of behavioral symptoms, genetic syndromes are defined based on a biological, genetic condition that is present already before birth.
Studying the impact of a genetic variation on cognitive, social, emotional and behavioral development, may help in understanding and identifying early markers of developmental risk and factors that mediate this risk. Our research projects in this area are currently focused on four target groups: 22q11 deletion syndrome, Phenylketonuria (PKU), Neurofibromatosis (NF) and X/Y chromosome trisomies (e.g. 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY).
Connection with other research
- Genetic syndromes
- Efficacy of Self-management training in adolescents and adults with Klinefelter syndrome (XXY)
- Language and self-regulation in XXY
- XXY versus autism: evidence from neuroimaging
- Neurodevelopmental risks in young children with an extra X or Y chromosome: the TRIXY study
- Genetic risk & atypical development: 22q11 Syndrome
- Neurofibromatosis Type I