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Neonatal neurological assessment of offspring in maternal phenylketonuria
Author(s) -
Waisbren S.E.,
Chang P.,
Levy H. L.,
Shifrin H.,
Allred E.,
Azen C.,
la Cruz F.,
Hanley W.,
Koch R.,
Matalon R.,
Rouse B.
Publication year - 1998
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005359313883
Subject(s) - offspring , medicine , human genetics , metabolic disease , pediatrics , pregnancy , phenylketonurias , endocrinology , phenylalanine , biology , genetics , amino acid , gene
This study assesses the impact of prenatal and postnatal factors in maternal phenylketonuria (PKU). The Dubowitz Neurological Assessment of the Preterm and Full‐term Newborn Infant was administered within the first 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 consisted of the Bayley Scales of Infant Development and the Receptive‐Expressive Emergent Language Scale (REEL). In addition, the Home Observation for Measurement of the Environment (HOME Scale) was given. Birth weight 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 language delay; and 26% had expressive language delay. The gestational age at which the mother attained metabolic control was an important factor associated with birth measurements, the Dubowitz Rating and subsequent developmental scores. The Dubowitz Neurological Assessment score did not predict developmental outcome (chi‐square = 1.3, p = 0.53), while the HOME score correlated with the DQ (r = 0.36, p = 0.02). In logistic regression analyses, the home environment was a greater determinant of risk for a low DQ than whether or not the mother attained metabolic control prior to prenancy (OR = 0.85, p = 0.02). These suggewst that treatment strategies addressing both prenatal and postnatal factors will most effectively reduce risks in maternal PKU.