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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

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Minerva Pediatrica 2006 December;58(6):557-69

language: English, Italian

Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescente

Corsello G. 1, Cicero L. 2, Giuffrè M. 1, La Grutta S. 1, Piccione M. 1, Pusateri F. 1, Ciaccio M. 3, Roccella M. 1

1 Department of Pediatrics, Child Health Institute University of Palermo, Palermo, Italy
2 Department of Psychology University of Palermo, Palermo, Italy
3 Institute of Biochemistry University of Palermo, Palermo, Italy


Maternal hyperphenylalanemia during pregnancy may induce a severe embryopathy characterized by microcephaly, mental retardation, facial dysmorphy and congenital heart defects. Four subjects, two pairs of sibs, with maternal hyperphenylalaninemia syndrome were included in this study and their neuropsychological performances were assessed. Maternal levels of hyperphenylalaninemia were similar in both mothers, one of them had not been diagnosed with the condition until her two children were examined at the ages of 10 and 6 years. A severe cognitive deficit was detected in all 4 subjects, with a typical profile of impaired perceptive abilities, behavioural disturbances, motor difficulties and poor familiar integration.

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