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Neonatal neurological assessment of offspring in maternal phenylketonuria
S E Waisbren1, P Chang, H L Levy
1Children's Hospital, Boston, Massachusetts 02115, USA.
Insights
Maternal phenylketonuria (PKU) offspring showed lower birth measurements and developmental delays. The home environment significantly impacted developmental outcomes more than maternal metabolic control.
Area of Science:
- Neuroscience
- Developmental Pediatrics
- Metabolic Disorders
Background:
- Maternal phenylketonuria (PKU) poses risks to offspring development.
- Prenatal and postnatal factors require assessment in managing maternal PKU.
Purpose of the Study:
- To evaluate the impact of prenatal and postnatal factors on offspring of mothers with PKU.
- To identify key determinants of developmental outcomes in maternal PKU.
Main Methods:
- Administered the Dubowitz Neurological Assessment to newborns.
- Utilized Bayley Scales of Infant Development, REEL, and HOME Scale at 1 year.
- Compared 56 maternal PKU offspring with 45 controls.
Main Results:
- Maternal PKU offspring had lower birth weight, length, and head circumference.
- Higher rates of abnormal neurological ratings and developmental delays (language, motor) observed.
- Home environment correlated with developmental quotient (DQ) and was a greater risk determinant than maternal metabolic control.
Conclusions:
- Prenatal and postnatal factors, particularly the home environment, are crucial for mitigating risks in maternal PKU.
- Targeted treatment strategies should address both maternal metabolic control and postnatal environmental support.
- Early intervention focusing on the home environment may improve developmental trajectories in offspring exposed to maternal PKU.
Abstract:
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 pregnancy (OR = 0.85, p = 0.02). These results suggest that treatment strategies addressing both prenatal and postnatal factors will most effectively reduce risks in maternal PKU.