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.

Gait and postural control patterns and rehabilitation in Down syndrome: a systematic review

“…Down syndrome (DS) has been widely studied in the field of physical rehabilitation with the aim of identifying the relationship between motor characteristics and the impairment of functional performance [1][2][3][4][5][6][7] . The main features of DS are delayed neuropsychomotor development, global muscle hypotonia and ligament laxity, that result in an average of two years for gait acquisition 8) and in compromised cognitive functions 6,9,10) .…”

Construction and disruption of spatial memory networks during development

“…There are multiple pathological conditions that can disrupt the normal development of spatial memory. Genetic causes such as Fragile X, Rett syndrome and Angelman syndrome can result in maldevelopment of networks serving spatial cognition (Dan et al 2015). The Ube3a mouse model of Angelman syndrome, the Ts65Dn trisomy mouse model of Down syndrome, the FXS model of Fragile X syndrome and the Mecp2Bird mouse model of Rett syndrome have demonstrated deficits in spatial cognition (Gomi et al 2010;Sun et al 2016;Leach and Crawley 2018).…”