Preventing early, prolonged vitamin E deficiency: an opportunity for better cognitive outcomes via early diagnosis through neonatal screening

J Pediatr. 2005 Sep;147(3 Suppl):S51-6. doi: 10.1016/j.jpeds.2005.08.003.


Objective: To evaluate whether early diagnosis of cystic fibrosis (CF) through newborn screening (NBS) and early vitamin E status are associated with cognitive function.

Study design: We assessed cognitive function for 71 children without meconium ileus (ages 7.3-16.9 years) enrolled in the screened (S) or control (C) group of the Wisconsin CF Neonatal Screening Project. The Test of Cognitive Skills, 2nd edition generated the cognitive skills index (CSI; mean = 100, SD = 16). Vitamin E deficiency at diagnosis was defined as plasma alpha-tocopherol (alpha-T) below 300 microg/dL (<300E). Primary analyses evaluated CSI scores across the 4 levels of group (S or C) by using alpha-T status (<300E or >300E) with analysis of covariance.

Results: After adjusting for covariates, CSI in the C<300E group was significantly lower than each of the other groups (C>300E, S<300E, and S>300E; P < .05). The highest proportion of CSI scores >84 occurred in the C<300E group (41%). Patients in this group also had the lowest mean head circumference z-scores at diagnosis.

Conclusions: Our results show that prolonged alpha-T deficiency in infancy is associated with lower subsequent cognitive performance. Thus, diagnosis via NBS may benefit the cognitive development of children with CF, particularly in those prone to vitamin E deficiency during infancy.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Age Factors
  • Analysis of Variance
  • Case-Control Studies
  • Child
  • Child Nutrition Disorders / blood
  • Child Nutrition Disorders / etiology
  • Child Nutrition Disorders / prevention & control*
  • Child, Preschool
  • Cognition Disorders / diagnosis
  • Cognition Disorders / etiology
  • Cognition Disorders / prevention & control*
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / therapy
  • Early Diagnosis
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening / organization & administration*
  • Randomized Controlled Trials as Topic
  • Risk Factors
  • Severity of Illness Index
  • Vitamin A / blood
  • Vitamin E Deficiency / blood
  • Vitamin E Deficiency / etiology
  • Vitamin E Deficiency / prevention & control*
  • Wisconsin
  • alpha-Tocopherol / blood


  • Vitamin A
  • alpha-Tocopherol