A R T I C L E Measuring Functional Status in Children With Genetic Impairments MICHAEL E. MSALL* AND MICHELLE R. TREMONT One of the consequences of genetic impairments in early childhood is their long-term effect on children’s developmental skills in communication, learning, and adaptive behaviors. Functional assessment provides families and clinicians with a common language for describing a child’s strengths and limitations in self-care (feeding, dressing, grooming, bathing, continence), mobility, and communication/social cognition. The National Center for Medical Rehabilitation Research described a model of disablement that includes five dimensions: pathophysiology, impairment, functional limitations, disability, and societal limitations. Using this framework, along with the Functional Independence Measure for children, the WeeFIM, we describe functional strengths and challenges in children with Down syndrome, spina bifida, congenital limb anoma- lies, congenital heart disease, urea cycle disorders, severe multiple developmental disabilities, and Di- George malformation sequence. We also briefly describe several pediatric functional/adaptive assessment instruments used by developmental professionals (Battelle Developmental Inventory, Vineland Adaptive Behavior Scales, Amount of Assistance Questionnaire). By tracking functional status, health professionals can prioritize secondary and tertiary prevention strategies that optimize self-care, mobility, communica- tion, and learning. When functional limitations interfere with the acquisition of these essential skills, family and community support programs can be maximized. Am. J. Med. Genet. (Semin. Med. Genet.) 89:62–74, 1999.  1999 Wiley-Liss, Inc. KEY WORDS: functional assessment; genetic disabilities; developmental outcomes; Down syndrome; spina bifida; limb malfor- mations; family supports; inborn errors of metabolism INTRODUCTION One of the key needs of families with children with genetic impairments is to understand the long-term impact of the disorder on the child’s development. This cannot be viewed as a single mea- surement process at one point in time. Although the average intelligence quo- tient (IQ) of children with Down syn- drome at kindergarten entry is two to three standard deviations below that of peers, this assessment will not docu- ment the child’s ability to learn letters and numbers and apply these concepts to reading and mathematics. This IQ score does not tell professionals if the child runs, dresses, maintains conti- nence, communicates basic needs, or plays games with friends. Thus, many activities most familiar to parents and professionals cannot be described by traditional psycho-educational scores. Over the past decade a broader view of functional assessment in essen- tial activities of self-care, mobility, communication, and social learning has emerged simultaneously with enhanced policy mandates established by Public Laws (PL) in early intervention (PL99- 457), special education supports (PL94- 142), employment opportunities (PL101-336), and disability assessment for Supplemental Security Income (SSI) [Perrin and Stein, 1991; Perrin et al., 1999]. The purpose of this review is to describe the use of functional assess- ment in children with genetic impair- ments. Functional assessment will be viewed as a process of describing a child’s strengths and challenges in the context of essential activities that occur within a child’s everyday environment. BACKGROUND More than 60 years ago, Doll under- stood that in order to optimize voca- tional outcomes and independent living in children with mental retardation, measurement of social competency in Michael E. Msall, M.D., is the director of the Child Development Center at Rhode Island Hospital. His clinical activities in- clude the diagnosis, prevention, and management of developmental disabili- ties and family supports for children with disabilities. His research activities have included developmental and functional outcomes of children with Down syn- drome, spina bifida, cerebral palsy, in- born errors of metabolism, and extreme prematurity. Michelle R. Tremont, M.A., works as a senior research assistant at the Child Development Center at Rhode Island Hospital. Her interests include de- velopmental psychology, the complexity of parenting, and developmental surveil- lance in primary care. *Correspondence to: Child Devel- opment Center, Rhode Island Hospital, APC-6, 593 Eddy St., Providence, RI 02903. E-mail: michael_msall@brown.edu Functional assessment will be viewed as a process of describing a child’s strengths and challenges in the context of essential activities that occur within a child’s everyday environment. AMERICAN JOURNAL OF MEDICAL GENETICS (SEMIN. MED. GENET.) 89:62–74 (1999) © 1999 Wiley-Liss, Inc.