Laboratory for Behaviour and Neurodevelopment

A major concern of families of patients with a rare disease is the risk of developing a developmental disorder including intellectual disability (ID) and psychopathology. Developmental disorders (DD) are broadly defined as cognitive and/or behavioral conditions that have early onset in childhood and include language disorders, intellectual disability, motor disorders or autism spectrum disorders. In a subgroup of patients, these rare diseases are caused by rare recurrent Copy Number variations (CNV’s). Psychopathology in CNVs encompasses emotional, perceptual, motor, behavioral and social disruptions in domains that cut across traditional diagnostic categories Rare developmental disorders collectively mean an important physical, psychological and socio-economic burden to patients, families, and society.  The multi-system nature of many rare recurrent CNVs requires a multidisciplinary clinical care and research approach.