A systematic review of cognitive functioning in early treated adults with phenylketonuria

Orphanet Journal of Rare Diseases
Denise Leonne HofmanLouise Dye

Abstract

Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the result of elevated levels of phenylalanine throughout life. Research on cognitive functioning in adults with PKU (AwPKU) often focuses on domains shown to be compromised in children with PKU, such as attention and executive functions, whereas other cognitive domains have received less attention. This systematic review aimed to provide an overview of cognitive functioning across domains examined in early treated (ET) AwPKU. A systematic search was performed in Ovid MEDLINE(R), PsycINFO, Web of Science, Cochrane, Scopus, Embase, ScienceDirect, and PubMed for observational studies on cognitive performance in ET AwPKU. Twenty-two peer-reviewed publications, reporting on outcomes from 16 studies were reviewed. Collectively, the results most consistently showed deficits in vigilance, working memory and motor skills. Deficits in other cognitive domains were less consistently observed or were understudied. Furthermore, despite reports of several associations between cognitive performance and phenylalanine (Phe) levels throughout l...Continue Reading

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Citations

Jun 22, 2019·Developmental Medicine and Child Neurology·Ramesh LamsalJennifer D Zwicker
Nov 2, 2019·Journal of Inherited Metabolic Disease·Emma R L C VardyDenise L Hofman
Nov 30, 2019·Orphanet Journal of Rare Diseases·Cristina RomaniVincenzo Leuzzi
Jul 24, 2020·Nutrients·María José de CastroMaría Luz Couce
Nov 26, 2019·Journal of Clinical Laboratory Analysis·Lili LiangXuefan Gu
Dec 4, 2019·Journal of Clinical and Experimental Neuropsychology·Liana PalermoCristina Romani
Oct 28, 2019·Molecular Genetics and Metabolism·Geoffrey Y BerguigHaoling H Weng
Oct 24, 2020·Neurology·Andrea PilottoDaniela Berg
Jan 5, 2021·The Neurologist·Lina PalaiodimouGeorgios Tsivgoulis
Jan 19, 2021·NeuroImage. Clinical·Sarah C HellewellStuart M Grieve
May 1, 2021·International Journal of Neonatal Screening·Kenji YamadaTakeshi Taketani
Jun 20, 2021·Journal of Inherited Metabolic Disease·Lynne AitkenheadElaine Murphy

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Software Mentioned

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