NEONATAL NEUROLOGICAL ASSESSMENT OF OFFSPRING IN MATERNAL PHENYLKETONURIA

This study assesses the impact of prenatal and postnatal factors in ma ternal phenylketonuria (PKU). The Dubowitz Neurological Assessment of the Preterm and Full-term Newborn Infant was administered within the f irst 8 days of life to 56 offspring of women with PKU and 45 controls. Follow-up testing of the maternal PKU offspring at age 1 year consist ed of the Bayley Scales of Infant Development and the Receptive-Expres sive Emergent Language Scale (REEL). In addition, the Home Observation for Measurement of the Environment (HOME Scale) was given. Birth weig ht was lower (z = 2.0, p = 0.045), birth length was lower (z = 2.1, p = 0.03) and birth head circumference was smaller (z = 3.5, p = 0.0005) in the maternal PKU offspring than in the control infants. Examiners rated 29% of the maternal PKU offspring and 9% of the control infants abnormal (Fisher's exact test, p = 0.01). At 1 year of age, 19% of the maternal PKU offspring attained a Bayley Developmental Quotient (DQ) and a score on the Bayley Motor Scale below 85, 19% had receptive lang uage delay; and 26% had expressive language delay. The gestational age at which the mother attained metabolic control was an important facto r associated with birth measurements, the Dubowitz Rating and subseque nt developmental scores. The Dubowitz Neurological Assessment score di d not predict developmental outcome (chi-square = 1.3, p = 0.53), whil e the HOME score correlated with the DQ (r = 0.36, p = 0.02). In logis tic regression analyses, the home environment was a greater determinan t of risk for a low DQ than whether or not the mother attained metabol ic control prior to pregnancy (OR = 0.85, p = 0.02). These results sug gest that treatment strategies addressing both prenatal and postnatal factors will most effectively reduce risks in maternal PKU.