References
- Albrecht, J., Garbade, S. F., & Burgard, P. (2009). Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis. Neuroscience and Biobehavioral Reviews, 33, 414–421.
- Arnold, G. L., Kramer, B. M., Kirby, R. S., Plumeau, P. B., Blakely, E. M., Sanger Cregan, L. S., & Davidson, P. W. (1998). Factors affecting cognitive, motor, behavioral and executive functioning in children with phenylketonuria. Acta Paediatrica, 87, 565–570.
- Batson, C. D., Early, S., & Salvanari, G. (1997). Perspective taking: Imagining how another feels versus imagining how you would feel. Personality and Social Psychology Bulletin, 23, 751–758.
- Batson, C. D., Fultz, J., & Schoenrade, P. A. (1987). Distress and empathy: Two qualitatively distinct vicarious emotions with different motivational consequences. Journal of Personality, 55, 19–39.
- Beck, A. T., Steer, R. A., & Brown, G. K. (1996). Manual for the Beck depression inventory-II. San Antonio, TX: Psychological Corporation.
- Bilder, D. A., Burton, B. K., Coon, H., Leviton, L., Ashworth, J., Lundy, B. D., … Longo, N. (2013). Psychiatric symptoms in adults with phenylketonuria. Molecular Genetics and Metabolism, 108, 155–160.
- Björklund, A., & Dunnett, S. B. (2007). Dopamine neuron systems in the brain: An update. Trends in Neuroscience, 30, 194–202.
- Blau, N., van Spronsen, F. J., & Levy, H. L. (2010). Phenylketonuria. Lancet, 376, 1417–1427.
- Boccia, M., Sulpizio, V., Teghil, A., Palermo, L., Piccardi, L., Galati, G., & Guariglia, C. (2019). The dynamic contribution of the high‐level visual cortex to imagery and perception. Human Brain Mapping, 40, 2449–2463.
- Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., … Abeling, N. G. G. M. (2017). Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria. Psychological Medicine, 47, 2854–2865.
- Bosch, A. M., Burlina, A., Cunningham, A., Bettiol, E., Moreau-Stucker, F., Koledova, E., … Regnault, A. (2015). Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet Journal of Rare Diseases, 10, 80.
- Bosch, A. M., Tybout, W., van Spronsen, F. J., de Valk, H. W., Wijburg, F. A., & Grootenhuis, M. A. (2007). The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria. Journal of Inherited Metabolic Disease, 30, 29–34.
- Brumm, V. L., Bilder, D., & Waisbren, S. E. (2010). Psychiatric symptoms and disorders in phenylketonuria. Molecular Genetics and Metabolism, 99(Suppl 1), S59–63.
- Burgard, P., Rupp, A., Konecki, D. S., Trefz, F. K., Schmidt, H., & Lichter-Konecki, U. (1996). Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. European Journal of Pediatrics, 155, S11–S15.
- Burlina, A., Bonafé, L., Ferrari, V., Suppiej, A., Zacchello, F., & Burlina, A. (2000). Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment. Journal of Inherited Metabolic Disease, 23, 313–316.
- Cazzorla, C., Cegolon, L., Burlina, A. P., Celato, A., Massa, P., Giordano, L., … Burlina, A. B. (2014). Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria. BMC Public Health, 14, 1243.
- Channon, S., German, E., Cassina, C., & Lee, P. (2004). Executive functioning, memory, and learning in phenylketonuria. Neuropsychology, 18, 613–620.
- Channon, S., Goodman, G., Zlotowitz, S., Mockler, C., & Lee, P. J. (2007). Effects of dietary management of phenylketonuria on long-term cognitive outcome. Archives of Disease in Childhood, 92, 213–218.
- Channon, S., Mockler, C., & Lee, P. (2005). Executive functioning and speed of processing in phenylketonuria. Neuropsychology, 19, 679–686.
- Christ, S. E., Huijbregts, S. C. J., de Sonneville, L. M. J., & White, D. A. (2010). Executive function in early-treated phenylketonuria: Profile and underlying mechanisms. Molecular Genetics and Metabolism, 99(Suppl 1), S22–32.
- Cleary, M., Trefz, F., Muntau, A. C., Feillet, F., van Spronsen, F. J., Burlina, A., & MacDonald, A. (2013). Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes. Molecular Genetics and Metabolism, 110, 418–423.
- Corsi, P. M. (1972). Human memory and the medial temporal region of the brain (Unpublished doctoral dissertation). McGill University, Montreal.
- Crone, M. R., van Spronsen, F. J., Oudshoorn, K., Bekhof, J., van Rijn, G., & Verkerk, P. H. (2005). Behavioural factors related to metabolic control in patients with phenylketonuria. Journal of Inherited Metabolic Disease, 28, 627–637.
- Davis, M. H. (1980). A multidimensional approach to individual differences in empathy. JSAS Catalog of Selected Documents in Psychology, 10, 85.
- Davis, M. H., & Franzoi, S. (1991). Stability and change in adolescent selfconsciousness and empathy. Journal of Research in Personality, 25, 70–87.
- De Corte, K., Buysse, A., Verhofstadt, L. L., Roeyers, H., Ponnet, K., & Davis, M. H. (2007). Measuring empathic tendencies: Reliability and validity of the Dutch version of the Interpersonal Reactivity Index. Psychologica Belgica, 47, 235–260.
- DeRoche, K., & Welsh, M. (2008). Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: Intelligence and executive function. Developmental Neuropsychology, 33, 474–504.
- Eisenberg, N., & Eggum, N. D. (2009). Empathic responding: Sympathy and personal distress. In J. Decety & W. Ickes (Eds.), The social neuroscience of empathy (pp. 71–83). Cambridge, MA: MIT Press.
- Evans, S., & Davis, M. H. (2015). Hierarchical organization of auditory and motor representations in speech perception: Evidence from searchlight similarity analysis. Cerebral Cortex, 25, 4772–4788.
- Farivar, S. S., Cunningham, W. E., & Hays, R. D. (2007). Correlated physical and mental health summary scores for the SF-36 and SF-12 health survey, V.I. Health Qual Life Outcomes, 5, 54.
- Froming, K. B., Levy, C. M., Schaffer, S. G., & Ekman, P. (2006). The comprehensive affect testing system. Gainesville, FL: Psychology Software, Inc.
- Griffiths, P., Paterson, L., & Harvie, A. (1995). Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria. Journal of Intellectual Disability Research, 39, 365–372.
- Hawk, S. T., Keijsers, L., Branje, S. J., Graaff, J. V., Wied, M. D., & Meeus, W. (2013). Examining the Interpersonal Reactivity Index (IRI) among early and late adolescents and their mothers. Journal of Personality Assessment, 95, 96–106.
- Hays, R. D., Sherbourne, C. D., & Mazel, R. M. (1993). The rand 36‐item health survey 1.0. Health Economics, 2, 217–227.
- Hofman, D. L., Champ, C. L., Lawton, C. L., Henderson, M., & Dye, L. (2018). A systematic review of cognitive functioning in early treated adults with phenylketonuria. Orphanet Journal of Rare Disease, 13, 150.
- Hood, A., Grange, D. K., Christ, S. E., Steiner, R., & White, D. A. (2014). Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Molecular Genetics and Metabolism, 111, 445–451.
- Jahja, R., Huijbregts, S. C., de Sonneville, L. M., van der Meere, J. J., Bosch, A. M., Hollak, C. E., & van Spronsen, F. J. (2013). Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study. Molecular Genetics and Metabolism, 110(Suppl), S57–61.
- Jahja, R., Huijbregts, S. C., de Sonneville, L. M., van der Meere, J. J., Legemaat, A. M., Bosch, A. M., … de Vries, M. C. (2017a). Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study. Neuropsychology, 31(4), 437.
- Jahja, R., van Spronsen, F. J., de Sonneville, L. M., van der Meere, J. J., Bosch, A. M., Hollak, C. E., … Janssen, M. C. (2016). Social-cognitive functioning and social skills in patients with early treated phenylketonuria: A PKU-COBESO study. Journal of Inherited Metabolic Disease, 39, 355–362.
- Jahja, R., van Spronsen, F. J., De Sonneville, L. M., van der Meere, J. J., Bosch, A. M., Hollak, C. E., … Janssen, M. C. (2017b). Long-term follow-up of cognition and mental health in adult phenylketonuria: A PKU-COBESO study. Behavior Genetics, 47, 486–497.
- Janzen, D., & Nguyen, M. (2010). Beyond executive function: Non-executive cognitive abilities in individuals with PKU. Molecular Genetics and Metabolism, 99(Suppl), S47–51.
- Jensen, A. R. (2001). Vocabulary and general intelligence. Behavioral and Brain Science, 24, 1109–1110.
- Koch, R., Burton, B., Hoganson, G., Peterson, R., Rhead, W., Rouse, B., … Azen, C. (2002). Phenylketonuria in adulthood: A collaborative study. Journal of Inherited Metabolic Disease, 25, 333–346.
- Kohler, C. G., Turner, T. H., Gur, R. E., & Gur, R. C. (2004). Recognition of facial emotions in neuropsychiatric disorders. CNS Spectrums, 9, 267–274.
- Kongs, S. K., Thompson, L. L., Iverson, G. L., & Heaton, R. K. (2000). WCST-64: Wisconsin card sorting test–64 card version, professional manual. Odessa, FL: Psychological Assessment Resources.
- Kriegeskorte, N., Mur, M., & Bandettini, P. A. (2008). Representational similarity analysis-connecting the branches of systems neuroscience. Frontiers in Systems Neuroscience, 2, 4.
- Kulkarni, S. K., & Dhir, A. (2009). Current investigational drugs for major depression. Expert Opinion on Investigational Drugs, 18, 767–788.
- Landolt, M. A., Nuoffer, J. M., Steinmann, B., & Superti-Furga, A. (2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. Journal of Pediatrics, 140, 516–521.
- Latzman, R. D., & Markon, K. E. (2010). The factor structure and agerelated factorial invariance of the Delis–Kaplan Executive Function System (D-KEFS). Assessment, 17, 172–184.
- Leggio, G. M., Salomone, S., Bucolo, C., Platania, C., Micale, V., Caraci, F., & Drago, F. (2013). Dopamine D(3) receptor as a new pharmacological target for the treatment of depression. European Journal of Pharmacology, 719, 25–33.
- Long, X. Y., Zuo, X. N., Kiviniemi, V., Yang, Y., Zou, Q. H., Zhu, C. Z., … Li, K. C. (2008). Default mode network as revealed with multiple methods for resting-state functional MRI analysis. Journal of Neuroscience Methods, 171, 349–355.
- Manti, F., Nardecchia, F., Chiarotti, F., Carducci, C., Carducci, C., & Leuzzi, V. (2016). Psychiatric disorders in adolescent and young adult patients with phenylketonuria. Molecular Genetics and Metabolism, 117, 12–18.
- Marazziti, D., Consoli, G., Picchetti, M., Carlini, M., & Faravelli, L. (2010). Cognitive impairment in major depression. European Journal of Pharmacology, 626, 83–86.
- McCrimmon, A. W., & Smith, A. D. (2013). Review of the Wechsler abbreviated scale of intelligence, (WASI-II). Journal of Psychoeducational Assessment, 31, 337–341.
- McKean, C. (1972). The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain. Brain Research, 47, 469–476.
- Miyake, A., Friedman, N. P., Emerson, M. J., Witzki, A. H., Howerter, A., & Wager, T. D. (2000). The unity and diversity of executive functions and their contributions to complex “frontal lobe” tasks: A latent variable analysis. Cognitive Psychology, 41, 49–100.
- Moyle, J. J., Fox, A. M., Arthur, M., Bynevelt, M., & Burnett, J. R. (2007). Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychology Review, 17, 91–101.
- Moyle, J. J., Fox, A. M., Bynevelt, M., Arthur, M., & Burnett, J. R. (2007). A neuropsychological profile of off-diet adults with phenylketonuria. Journal of Clinical and Experimental Neuropsychology, 29, 436–441.
- Nardecchia, F., Manti, F., Chiarotti, F., Carducci, C., Carducci, C., & Leuzzi, V. (2015). Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study. Molecular Genetics and Metabolism, 115, 84–90.
- Palermo, L., Geberhiwot, T., MacDonald, A., Limback, E., Hall, S. K., & Romani, C. (2017). Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains. Neuropsychology, 31, 255–267.
- Pascucci, T., Rossi, L., Colamartino, M., Gabucci, C., Carducci, C., Valzania, A., … Ventura, R. (2018). A new therapy prevents intellectual disability in mouse with phenylketonuria. Molecular Genetics and Metabolism, 124, 39–49.
- Pietz, J., Fätkenheuer, B., Burgard, P., Armbruster, M., Esser, G., & Schmidt, H. (1997). Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics, 99, 345–350.
- Press, W. H., Teukolsky, S. A., Vetterling, W. T., & Flannery, B. P. (1992). Numerical recipes in fortran77: The art of scientific computing (2nd ed.). Cambridge: Cambridge University Press.
- Preston, S. D. (2013). The origins of altruism in offspring care. Psychological Bulletin, 139, 1305–1341.
- Puglisi-Allegra, S., Cabib, S., Pascucci, T., Ventura, R., Cali, F., & Romano, V. (2000). Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria. Neuroreport, 11, 1361–1364.
- Reitan, R. M. (1958). Validity of the Trail Making Test as an indicator of organic brain damage. Perceptual and Motor Skills, 8, 271–276.
- Rey, A. (1964). L’examen clinique en psychologie [Clinical examination in psychology]. Paris: Presses Universitaires de France.
- Ris, M. D., Weber, A. M., Hunt, M. M., Berry, H. K., Williams, S. E., & Leslie, N. (1997). Adult psychosocial outcome in early-treated phenylketonuria. Journal of Inherited Metabolic Disease, 20, 499–508.
- Romani, C., MacDonald, A., De Felice, S., & Palermo, L. (2018). Speed of processing and executive functions in adults with phenylketonuria: Quick in finding the word, but not the ladybird. Cognitive Neuropsychology, 35, 222–226.
- Romani, C., Manti, F., Nardecchia, F., Valentini, F., Fallarino, F., Carducci, C., … Leuzzi, V. (in press). Adult cognitive outcomes in phenylketonuria: Explaining causes of variability beyond average Phe levels. Orphanet.
- Romani, C., Palermo, L., MacDonald, A., Limback, E., Hall, S. K., & Geberhiwot, T. (2017). The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages. Neuropsychology, 31, 242–254.
- Romani, C., Tsouknida, E., & Olson, A. (2015). Encoding order and developmental dyslexia: A family of skills predicting different orthographic components. Quarterly Journal of Experimental Psychology, 68, 99–128.
- Rosen, W. G. (1980). Verbal fluency in aging and dementia. Journal of Clinical Neuropsychology, 2, 135–146.
- Sahakian, B. J., Jones, G. M. M., Levy, R., Gray, J. A., & Warburton, D. M. (1989). The effects of nicotine on attention, information processing, and short-term memory in patients with dementia of the Alzheimer type. British Journal of Psychiatry, 154, 797–800.
- Sahakian, B. J., Morris, R. G., Evenden, J. L., Heald, A., Levy, R., Philpot, M., & Robbins, T. W. (1988). A comparative study of visuospatial memory and learning in Alzheimer-type dementia and Parkinson’s disease. Brain, 111, 695–718.
- Schmidt, E., Rupp, A., Burgard, P., Pietz, J., Weglage, J., & de Sonneville, L. (1994). Sustained attention in adult phenylketonuria: The influence of the concurrent phenylalanine-blood-level. Journal of Clinical and Experimental Neuropsychology, 16, 681–688.
- Schmidt, M. (1996). Rey auditory verbal learning test: A handbook. Los Angeles, CA: Western Psychological Services.
- Shallice, T. (1982). Specific impairments of planning. Philosophical Transactions of the Royal Society of London, 298, 199–209.
- Simon, E., Schwarz, M., Roos, J., Dragano, N., Geraedts, M., Siegrist, J., … Wende, U. (2008). Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health and Quality of Life Outcomes, 6, 25.
- Skuse, D. H., & Gallagher, L. (2009). Dopaminergic-neuropeptide interactions in the social brain. Trends in Cognitive Sciences, 13, 27–35.
- Smith, M. L., Klim, P., Mallozzi, E., & Hanley, W. B. (1996). A test of frontal-specificity hypothesis in the cognitive performance of adults with phenylketonuria. Developmental Neuropsychology, 12, 327–341.
- Smyser, C. D., Snyder, A. Z., Shimony, J. S., Mitra, A., Inder, T. E., & Neil, J. J. (2016). Resting-state network complexity and magnitude are reduced in prematurely born infants. Cerebral Cortex, 26, 322–333.
- Stroop, J. R. (1935). Studies of interference in serial verbal reactions. Journal of Experimental Psychology, 18, 643–662.
- Sullivan, J. E. (2001). Emotional outcome of adolescents and young adults with early and continuously treated phenylketonuria. Journal of Pediatric Psychology, 26, 477–484.
- Ten Hoedt, A. E., de Sonneville, L. M. J., Francois, B., Ter Horst, N. M., Janssen, M. C. H., Rubio-Gozalbo, M. E., … Bosch, A. M. (2011). High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: A randomised, double-blind, placebo-controlled, crossover trial. Journal of Inherited Metabolic Disease, 34, 165–171.
- Thomas, J., Levy, H., Amato, S., Vockley, J., Zori, R., Dimmock, D., … Merilainen, M. (2018). Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM). Molecular Genetics and Metabolism, 124, 27–38.
- Trites, R. (1977). Grooved Pegboard Test. Lafayette, IN: Lafayette Instrument.
- Uzefovsky, F., Shalev, I., Israel, S., Edelman, S., Raz, Y., Perach-Barzilay, N., … Ebstein, R. P. (2014). The dopamine D4 receptor gene shows a gender-sensitive association with cognitive empathy: Evidence from two independent samples. Emotion, 14, 712–721.
- Vilaseca, M. A., Lambruschini, N., Gómez-López, L., Gutiérrez, A., Fusté, E., Gassió, R., … Campistol, J. (2010). Quality of dietary control in phenylketonuric patients and its relationship with general intelligence. Nutricion Hospitalaria, 25, 60–66.
- Ware, J. E., Kosinski, M., & Keller, S. K. (1994). SF-36® physical and mental health summary scales: A user’s manual. Boston, MA: The Health Institute.
- Ware, J. E., Snow, K. K., Kosinski, M., & Gandek, B. (1993). SF-36® health survey manual and interpretation guide. Boston: New England Medical Center, The Health Institute.
- Wechsler, D. (1997). Wechsler adult intelligence scale—Third edition. San Antonio, TX: The Psychological Corporation.
- Wechsler, D. (1999). Wechsler Abbreviated Scale of Intelligence (WASI). San Antonio, TX: Harcourt Assessment.
- Weglage, J., Fromm, J., van Teeffelen-Heithoff, A., Möller, H. E., Koletzko, B., Marquardt, T., … Feldmann, R. (2013). Neurocognitive functioning in adults with phenylketonuria: Results of a long-term study. Molecular Genetics and Metabolism, 110, S44–8.
- Weglage, J., Fünders, B., Ullrich, K., Rupp, A., & Schmidt, E. (1996). Psychosocial aspects in phenylketonuria. European Journal of Pediatrics, 155, 101–104.
- Weglage, J., Grenzebach, M., Pietsch, M., Feldmann, R., Linnenbank, R., Denecke, J., & Koch, H. G. (2000). Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. Journal of Inherited Metabolic Disease, 23, 487–496.
- Wise, R. A. (2004). Dopamine, learning and motivation. Nature Reviews Neuroscience, 5, 483–494.
- Wood, A. C., Friedmann, C. J., & Steisel, I. M. (1967). Psychological factors in phenylketonuria. American Journal of Orthopsychiatry, 37, 671–679.
- Zschocke, J. (2003). Phenylketonuria mutations in Europe. Human Mutation, 21, 345–356.