Phenylketonuria (PKU) causes mental retardation in infancy. The disease, if diagnosed at birth, is treated with a restrictive diet. Although universal screening for PKU, which began in the 1950s, is often described as a highly successful public health program, critics have argued that false-positive tests of children caused widespread harm. The researchers in this study sought to discover whether PKU screening programs did, in fact, cause adverse medical outcomes in children who ended up not having the disease. They collected data from medical archives, articles, and electronic databases. They also conducted oral interviews with people involved with the screening program in its early years.
The results suggest this kind of program in the future should follow all identified children, including those with false-positive results, and document both the medical and psychosocial outcomes.