Neurodevelopmental disabilities refers to a group of often lifelong conditions that cause functional limitations due to disruptions in childhood brain development. These conditions are heterogenous and can affect multiple domains of function (including gross motor, fine motor, communication, and cognition domains) and can also be associated with impairments in other body systems that can further contribute to functional impairments. Etiologies of neurodevelopmental disabilities include genetic conditions, prematurity, perinatal injury, and postnatal or prenatal environmental exposures. Treatments targeted to etiologies, particularly genetic and metabolic etiologies, are becoming increasingly common. Depending on the symptoms, up to 30% of people with neurodevelopmental disabilities can have a contributing genetic etiology. This has prompted consensus recommendations for genetic testing like whole exome or whole genome sequencing to be included as a part of diagnostic evaluation of neurodevelopmental disabilities. Separate from etiologically-targeted treatments, managing the manifestations of neurodevelopmental disabilities requires an approach understanding the person affected within the context of their environment to ensure that treatments are targeted to optimize that person’s functional goals and societal participation goals. The World Health Organization International Classification of Functioning, Health, and Disability (the ICF framework) provides a guide for considering medical management within the complex interplay between body structure and function, activity, participation, environmental factors, and personal factors. Recent work has also emphasized the importance of planning for lifelong goals and tailoring pediatric treatments to be able to optimize lifespan functioning.
Elsevier, Swaiman's Pediatric Neurology (Seventh Edition), 2024, pp 636-641
