The birthweights of an ethnically homogeneous sample of infants with phenylketonuria, their unaffected siblings, and control infants were compared after adjusting for the effects of: mother's age, mother's date of birth, mother's height and obstetric history, the length of gestation, the infant's sex, the place and date of birth. There were no significant differences between the infants with phenylketonuria and their unaffected siblings either in adjusted or unadjusted birthweights. Control infants had slightly, but statistically significant, greater adjusted and unadjusted birthweights than the combined phenylketonuria and unaffected sibling groups. This effect of the phenylketonuria gene is a previously unreported finding but unlikely to be related to the pathogenesis of phenylketonuria. Our results do not provide support for the "justification" hypothesis that the mental and neurological defects in phenylketonuria result from prenatal tyrosine deprivation which would be reflected in lower birthweights.

Positron emission tomography (PET) has dramatically improved our ability to examine the functioning of the living brain. PET studies of neural pathways of the major sensory modalities--auditory, visual, somatosensory--have confirmed many traditional neuropsychological concepts, such as cross-lateral representation and regional functioning to particular primary sensory cortical areas. Other PET studies have used radioisotopes to examine relationships between radiopharmaceutical agents and neurobehavioral functioning in both normal and neuropathological states. In some areas, PET methodology requires further refinement. For example, effort should be made to develop the technology to do multiple scans within a short time frame; statistical procedures to examine relationships between neuropsychological tasks and the activity or presence of radiopharmaceutical agents in multiple sites; adequate controls for experimental error; and activation paradigms controlling the nonspecific effects of simple arousal. PET activation models of cognition suggest that a "systems efficiency" approach to assessing neuropsychological test performance involving both serial and parallel processing would be useful. These developments will improve empirical methodology and our understanding of brain-behavior relationships.