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.