One of the largest population-based disease prevention programs in the US is newborn metabolic screening. The goal of early identification and treatment of metabolic disorders is prevention of the serious medical and developmental consequences of the disorders (e.g., mental retardation [MR]. Despite this goal, the US has no mechanism for systemic surveillance of the developmental status of children who screen positive for and subsequently have metabolic disorders diagnosed. To determine the number of selected developmental disabilities attributable to metabolic disorders detected by newborn screening, CDC conducted a preliminary investigation of children with developmental disabilities and metabolic disorders in the metropolitan Atlanta area using data from the Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP). Of the 362,390 live-born infants of residents of metropolitan Atlanta from 1981 through 1991, an estimated 148 children would have screened positive for at least one of six metabolic disorders and, thereby, have been at risk for having MR if left untreated. However, only two children from these birth cohorts were identified in MADDSP as having MR associated with one of these underlying metabolic disorders. The finding that metropolitan Atlanta children have a low occurrence of serious developmental disabilities attributable to these rare and serious metabolic disorders supports the effectiveness of the newborn screening program. However, the presence of two cases of MR attributable to MSUD and galactosemia suggests a need to monitor the effectiveness of this prevention program.
Learning Objectives: vc
Keywords: Screening,
Presenting author's disclosure statement:
Organization/institution whose products or services will be discussed: None
I do not have any significant financial interest/arrangement or affiliation with any organization/institution whose products or services are being discussed in this session.