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Neuropsychological profile in parents of adult phenylketonuria patients

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Abstract

Phenylketonuria (PKU) is a disorder caused by an inborn error of metabolism, causing cognitive and behavioral disorders when not treated. Heterozygotes (i.e., patients’ parents) were described with low verbal intelligence quotient, but no study systematically investigated cognitive functions in PKU parents. To obtain a neuropsychological profile in heterozygotes, we compared cognitive performance of heterozygotes and healthy controls (HC) on cognitive battery. Twelve heterozygotes and 14 HCs underwent standardized neuropsychological tasks assessing frontal/executive functions, memory, and visuospatial abilities. No significant difference between heterozygotes and HC was found on demographic aspects. Heterozygotes performed worse than HC on immediate verbal recall, on test assessing set-shifting, divided attention, and sensitivity to processing speed. No difference was found on the remaining cognitive tests.

In conclusions, we observed less efficient control/executive functions in heterozygotes when compared to HCs. Further studies in large sample of heterozygotes should be performed to confirm our results.

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Authors and Affiliations

  1. Department of Psychology, University of Campania “Luigi Vanvitelli”, Caserta, Italy

    Gabriella Santangelo, Fausta Piscopo & Luigi Trojano

  2. UOS Disorders of Amino Acid Metabolism, Department of Clinical Neurosciences, Anesthesiology, Pharmacoutilization, Naples, Italy

    Franco Santangelo

  3. Department of Neuroscience Reproductive and Odontostomatologic Sciences, University of Naples Federico II, Naples, Italy

    Franco Santangelo

  4. Salvatore Maugeri Foundation, Scientific Institute of Telese, Telese Terme (BN), Italy

    Luigi Trojano

Authors
  1. Gabriella Santangelo
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  2. Fausta Piscopo
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  3. Franco Santangelo
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  4. Luigi Trojano
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Corresponding author

Correspondence to Gabriella Santangelo.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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The authors declare that they have no conflict of interest.

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Santangelo, G., Piscopo, F., Santangelo, F. et al. Neuropsychological profile in parents of adult phenylketonuria patients. Neurol Sci 39, 161–164 (2018). https://doi.org/10.1007/s10072-017-3181-5

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  • DOI: https://doi.org/10.1007/s10072-017-3181-5

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