Neonatal neurological assessment of offspring in maternal phenylketonuria

S. E. Waisbren, P. Chang, H. L. Levy, H. Shifrin, E. Allred, C. Azen, F. De La Cruz, W. Hanley, R. Koch, Reuben Matalon, B. Rouse

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)39-48
Number of pages10
JournalJournal of Inherited Metabolic Disease
Volume21
Issue number1
DOIs
StatePublished - 1998

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Maternal Phenylketonuria
Language Development Disorders
Parturition
Mothers
Phenylketonurias
Child Development
Birth Weight
Gestational Age
Language
Logistic Models
Head
Regression Analysis
Observation
Newborn Infant
Pregnancy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Waisbren, S. E., Chang, P., Levy, H. L., Shifrin, H., Allred, E., Azen, C., ... Rouse, B. (1998). Neonatal neurological assessment of offspring in maternal phenylketonuria. Journal of Inherited Metabolic Disease, 21(1), 39-48. https://doi.org/10.1023/A:1005359313883

Neonatal neurological assessment of offspring in maternal phenylketonuria. / Waisbren, S. E.; Chang, P.; Levy, H. L.; Shifrin, H.; Allred, E.; Azen, C.; De La Cruz, F.; Hanley, W.; Koch, R.; Matalon, Reuben; Rouse, B.

In: Journal of Inherited Metabolic Disease, Vol. 21, No. 1, 1998, p. 39-48.

Research output: Contribution to journalArticle

Waisbren, SE, Chang, P, Levy, HL, Shifrin, H, Allred, E, Azen, C, De La Cruz, F, Hanley, W, Koch, R, Matalon, R & Rouse, B 1998, 'Neonatal neurological assessment of offspring in maternal phenylketonuria', Journal of Inherited Metabolic Disease, vol. 21, no. 1, pp. 39-48. https://doi.org/10.1023/A:1005359313883
Waisbren, S. E. ; Chang, P. ; Levy, H. L. ; Shifrin, H. ; Allred, E. ; Azen, C. ; De La Cruz, F. ; Hanley, W. ; Koch, R. ; Matalon, Reuben ; Rouse, B. / Neonatal neurological assessment of offspring in maternal phenylketonuria. In: Journal of Inherited Metabolic Disease. 1998 ; Vol. 21, No. 1. pp. 39-48.
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AU - Levy, H. L.

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AU - Allred, E.

AU - Azen, C.

AU - De La Cruz, F.

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