Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria: The Maternal PKU Collaborative Study

Article Abstract:

Women with phenylketonuria (PKU) should begin eliminating phenylalanine from their diet completely as soon as they know they are pregnant. In a study of 253 pregnant women, 149 with severe PKU were started on a restricted diet, whereas 33 with mild PKU and 71 with no history of PKU were not treated. By the age of 4, 47% of the children whose mothers received no treatment for PKU or were not adequately treated scored low on tests of intellectual ability. Overall, almost one-third of the children born to women with PKU had social and behavioral problems.

Health aspects, Causes of, Behavior disorders in children, Childhood mental disorders

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The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: report of a 12-year study

Article Abstract:

Pregnant women with phenylketonuria who eat a diet free of phenylalanine can substantially reduce the risk of damage to their baby. This was the conclusion of a 12-year follow-up of 576 women with phenylketonuria, a metabolic disease that can cause mental retardation.

Prevention, Food and nutrition, Pregnant women, Mental retardation, Diet therapy

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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

Article Abstract:

Expanded newborn screening for up to 20 different metabolic disorders may improve the health of children who test positive, according to a study of 258 children. However, children who have a false positive test may be hospitalized unnecessarily and their parents may be overly stressed. A false positive test means a diagnostic test is positive but the person who was tested doesn't really have the disease.

Psychological aspects, Evaluation, Medical examination, Infants (Newborn), Newborn infants, Genetic screening, Genetic testing, False positive reactions

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