Measuring functional status in children with genetic impairments

One of the consequences of genetic impairments in early childhood is their long-term effect on children's developmental skills in communication, learn ing, and adaptive behaviors. Functional assessment provides families and cl inicians with a common language for describing a child's strengths and limi tations in self-care (feeding, dressing, grooming, bathing, continence), mo bility, and communication/social cognition. The National Center for Medical Rehabilitation Research described a model of disablement that includes fiv e dimensions: pathophysiology, impairment, functional limitations, disabili ty, and societal limitations. Using this framework, along with the Function al Independence Measure for children, the WeeFIM(R), we describe functional strengths and challenges in children with Down syndrome, spina bifida, con genital limb anomalies, congenital heart disease, urea cycle disorders, sev ere multiple developmental disabilities, and DiGeorge malformation sequence . We also briefly describe several pediatric functional/adaptive assessment instruments used by developmental professionals (Battelle Developmental In ventory, Vineland Adaptive Behavior Scales, Amount of Assistance questionna ire). By tracking functional status, health professionals can prioritize se condary and tertiary prevention strategies that optimize self-care, mobilit y, communication, and learning. When functional limitations interfere with the acquisition of these essential skills, family and community support pro grams can be maximized. (C) 1999 Wiley-Liss, Inc.