title: Phenotypic plasticity and the perception-action-cognition-environment paradigm in neurodevelopmental genetic disorders.
abstract: Careful study of the phenotype can have implications at several levels, namely clinical diagnosis, pathophysiological reasoning, management planning, and outcome measurement. Behavioural phenotypes involve cognition, communication, social skills, and motor control. They can be documented in a host of neurodevelopmental conditions and approached with the recently refined perception-action-cognition-environment (PACE) paradigm, which focuses on the neurodevelopmental processes that underlie learning and adaption to the environment through perception, action, and cognitive processing. Although this paradigm was originally developed in the context of cerebral palsy, it can be applied along developmental trajectories in several neurogenetic conditions, including Down syndrome, fragile X syndrome, Rett syndrome, Angelman syndrome, and Williams syndrome, to name but a few. It must be recognized, however, that relevant, valid tools for assessment and management strategies still need to be developed.
authors.affiliation: Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium; Laboratory of Neurophysiology and Movement Biomechanics, Université Libre de Bruxelles (ULB), Brussels, Belgium.
authors.forename: Bernard
authors.initials: B
authors.lastname: Dan
authors.forename: Karine
authors.initials: K
authors.lastname: Pelc
authors.forename: Linda
authors.initials: L
authors.lastname: de Meirleir
authors.forename: Guy
authors.initials: G
authors.lastname: Cheron
mesh_terms: D002648:Child; D002652:Child Behavior / Q000502:physiology*; D003071:Cognition / Q000502:physiology*; D004777:Environment; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D010465:Perception / Q000502:physiology*; D010641:Phenotype