Behavioral phenotypes and recent developments in genetic technologies
background Recent developments in genetic technologies make it possible to find a causative genetic defect in about 60% of patients diagnosed with neurodevelopmental disorders. A genetic etiology may provide insight into associated psychopathology, somatic comorbidity, course and direction for treatment.
aim To provide an overview of recent developments in genetic technologies, of genetic syndromes and their associated psychopathology. This is illustrated by describing two recently described syndromes.
method Clinical expertise combined with a search in Pubmed with the key words ‘behavioural phenotype’, ‘intellectual disabilit*’, ‘next generation sequencing’, ‘exome’ and ‘genome’.
results We provide an overview of developments in genetic technologies. A schematic overview of syndromes, which may present in clinical practice, is offered and completed with implications for treatment. Findings in recently reported syndromes are illustrated.
conclusion There is an increase in genetic diagnosis in patients with neurodevelopmental disorders. Knowledge about recent developments in genetics is helping psychiatrists to deal with considerations about referral for genetic diagnostics and putting a genetic syndrome in the context of psychiatric treatment.