Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels?

Developmental Neuropsychology

Volumn 32, Issue 2, 2007, Pages 645-668

  Anderson, Peter J ^a,b   Wood, Stephen J ^a   Francis, Dorothy E ^b   Coleman, Lee ^b   Anderson, Vicki ^a,b   Boneh, Avihu ^b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE; NORADRENALIN; PHENYLALANINE; SEROTONIN;

ACADEMIC ACHIEVEMENT; ACADEMIC FAILURE; ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; APPARATUS; ARTICLE; ATTENTION; AUSTRALIA; BRAIN DISEASE; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; HUMAN; INTELLIGENCE QUOTIENT; INTELLIGENCE TEST; LEARNING; MALE; MEMORY; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENYLKETONURIA; PRIORITY JOURNAL; SCHOOL CHILD; WHITE MATTER; WHITE MATTER ABNORMALITY;

EID: 34848928466     PISSN: 87565641     EISSN: None     Source Type: Journal    
DOI: 10.1080/87565640701375963     Document Type: Article

References (83)

1. Anderson, P., Anderson, V., & Lajoie, G. (1996). The Tower of London Test: Validation and standardization for pediatric populations. The Clinical Neuropsychologist, 10, 54-65.
2. Anderson, P., Anderson, V., Northam, E., & Taylor, H. G. (2000). Standardization of the contingency naming test for school-aged children: A new measure of reactive flexibility. Clinical Neuropsychological Assessment, 1, 247-273.
3. Anderson, P., Wood, S., Francis, D., Coleman, L., Warwick, L., Casanelia, S., et al. (2004). Neuropsychological functioning in children with early-treated phenylketonuria: Impact of white matter abnormalities. Developmental Medicine & Child Neurology, 46, 230-238.
4. Antshel, K., & Waisbren, S. (2003). Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. Journal of Abnormal Child Psychology, 31, 565-574.
5. Arnold, G. L., Kramer, B. M., Kirby, R. S., Plumeau, P. B., Blakely, E. M., Sanger Cregan, L. S., et al. (1998). Factors affecting cognitive, motor, behavioral, and executive functioning in children with phenylketonuria. Acta Paediatrica, 87, 565-570.
6. Banich, M. T., Passarotti, A. M., White, D. A., Nortz, M. J., & Steiner, R. D. (2000). Interhemispheric interaction during childhood: II. Children with early-treated phenylketonuria. Developmental Neuropsychology, 18, 53-71.
7. Bick, U., Fahrendorf, G., Ludolph, Á., Vassallo, P., Weglage, J., & Ullrich, K. (1991). Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging. European Journal of Pediatrics, 150, 185-189.
8. Bick, U., Ullrich, K., Stöber, U., Möller, H., Schuierer, G., Ludolph, A. C., et al. (1993). White matter abnormalities in patients with treated hyperphenylalaninaemia: magnetic resonance relaxometry and proton spectroscopy findings. European Journal of Pediatrics, 152, 1012-1020.
9. Brozoski, T., Brown, R., Rosvold, H., & Goldman, P. (1979). Cognitive deficit caused by regional depletion of dopamine in prefrontal cortex of rhesus monkey. Science, 205, 929-932.
10. Brumm, V., Azen, C., Moats, R., Stern, A., Broomand, C., Nelson, M., et al. (2004). Neuropsychological outcome of subjects participating in the PKU Adult Collaborative Study: A preliminary review. Journal of Inherited Metabolic Disease, 27, 549-566.
11. Burlina, A., Bonafé, L., Ferrari, V., Suppiej, A., Zacchello, F., Burlina, A. et al. (2000). Measurement of neurotransmitter metabolites in the cerebrospinal fluid of Phenylketonurie patients under dietary treatment. Journal of Inherited Metabolic Disease, 23, 313-316.
12. Channon, S., German, C., Cassina, C., & Lee, P. (2004). Executive functioning, memory, and learning in phenylketonuria. Neuropsychology, 18, 613-620.
13. Chiodo, L., Bannon, M., Grace, A., Roth, R., & Bunney, B. (1984). Evidence for the absence of impulse-regulating somatodendritic and synthesis-modulating nerve terminal autoreceptors of mesocortical dopamine neurons. Neuroscience, 12, 1-16.
14. Cleary, M., Walter, J., Wraith, J., & Jenkins, J. (1995). Magnetic resonance imaging in phenylketonuria: Reversal of cerebral white matter change. Journal of Pediatrics, 127, 251-255.
15. Cleary, M., & Walter, J. H. (2001 ). Assessment of adult phenylketonuria. Annals of Clinical Biochemistry, 38, 450-458.
16. Cleary, M. A., Walter, J. H., Wraith, J. E., Jenkins, J. R R., Alani, S. M., Tyler, K., et al. (1994). Magnetic resonance imaging of the brain in phenylketonuria. The Lancet, 344, 87-90.
17. Craft, S., Gourovitch, M., Dowton, B., Swanson, J., & Bonforte, S. ( 1992). Lateralized deficits in visual attention in males with developmental dopamine depletion. Neuropsychologia, 30, 341-351.
18. Daniel, A. (1983). Power, privilege, and prestige: Occupations in Australia. Melbourne, Australia: Longman-Cheshire.
19. Diamond, A. (1994). Phenylalanine levels of 6-10 mg/dl may not be as benign as once thought. Acta Paediatrics, Suppl 407, 89-91.
20. Diamond, A., Ciaramitaro, V., Donner, E., Djali, S., & Robinson, M. (1994). An animal model of early-treated PKU. Journal of Neuroscience, 14, 3072-3082.
21. Diamond, A., Prevor, M. B., Callender, G., & Druin, D. P. (1997). Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monographs of the Society for Research in Child Development, 62, i-v, 1-208.
22. Dyer, C. A. (1999). Pathophysiology of phenylketonuria. Mental Retardation & Developmental Disabilities Research Reviews, 5, 104-112.
23. Feldmann, R., Denecke, J., Pietsch, M., Grenzebach, M., & Weglage, J. (2002). Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatric Research, 51, 761-765.
24. Filley, C. (1998). The behavioral neurology of cerebral white matter. Neurology, 50, 1535-1540.
25. Filley, C. (2001). The behavioral neurology of cerebral white matter. In C. Filley (Ed.), The behavioral neurology of white matter, (pp. 247-267). New York: Oxford University Press.
26. Gourovitch, M., Craft, S., Dowton, B., Ambrose, P., & Sparts, S. (1994). Interhemispheric transfer in children with early-treated phenylketonuria. Journal of Clinical and Experimental Neuropsychology, 16, 393-404.
27. Griffiths, P., Campbell, R., & Robinson, P. (1998). Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test. Journal of Inherited Metabolic Disease, 21, 125-135.
28. Griffiths, P., Tarrini, M., & Robinson, P. (1997). Executive function and psychosocial adjustment in children with early treated phenylketonuria: correlation with historical and concurrent phenylalanine levels. Journal of Intellectual Disability Research, 41, 317-323.
29. Guttler, F., & Lou, H. (1986). Dietary problems of phenylketonuria: Effect on CNS transmitters and their possible role in behaviour and neuropsychological function. Journal of Inherited Metabolic Disease, 9, 169-177.
30. Hommes, F., Eller, E., & Taylor, E. (1982). Turnover of fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Journal of Inherited Metabolic Disease, 5, 21-27.
31. Huijbregts, S., de Sonneville, L., Licht, R., Sergeant, J., & van Spronsen, F. (2002). Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria. Developmental Neuropsychology, 22, 481-499.
32. Huijbregts, S., de Sonneville, L., Licht, R., van Spronsen, F., Verkerk, P., & Sergeant, J. (2002). Sustained attention and inhibition of cognitive interference in treated phenylketonuria: Associations with concurrent and lifetime phenylalanine concentrations. Neuropsychologia, 40, 7-15.
33. Huijbregts, S., de Sonneville, L., van Spronsen, F., Berends, I., Licht, R., & Verkerk, R (2003). Motor function under lower and higher controlled processing demands in early and continuously treated phenylketonuria. Neuropsychology, 17, 369-379.
34. Huijbregts, S., de Sonneville, L., van Spronsen, F., Licht, R., & Sergeant, J. (2002). The neuropsychological profile of early and continuously treated phenylketonuria: Orienting, vigilance, and maintenance versus manipulation-functions of working memory. Neuroscience & Biobehavioral Reviews, 26, 697-712.
35. Huttenlocher, P. R. (2000). The neuropathology of phenylketonuria: human and animal studies. European Journal of Pediatrics, 159(Suppl 2), S102-106.
36. Kalsner, L., Rohr, F., Strauss, K., Korson, M., & Levy, H. (2001). Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids. Journal of Pediatrics, 139, 421-427.
37. Koch, R., Moats, R., Guttler, F., Guldberg, P., & Nelson, M., Jr. (2000). Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics, 106, 1093-1096.
38. Leuzzi, V., Bianchi, M. C., Tosetti, M., Carducci, C. L., Carducci, C. A., & Antonozzi, I. (2000). Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria. Journal of Inherited Metabolic Disease, 23, 563-570.
39. Leuzzi, V., Pansini, M., Sechi, E., Chiarotti, F., Carducci, C., Levi, G., et al. (2004). Executive function impairment in early-treated PKU subjects with normal mental development. Journal of Inherited Metabolic Disease, 27, 115-125.
40. Lezak, M. (1995). Neuropsychological assessment (3rd ed.). New York: Oxford University Press.
41. Luciana, M., Sullivan, J., & Nelson, C. A. (2001). Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria. Child Development, 72, 1637-1652.
42. Manly, T., Robertson, I., Anderson, V., & Nimmo-Smith, I. (1999). TEA-Ch: The test of everyday attention for children manual. Bury St Edmunds, England: Thames Valley Test Company.
43. Mazzocco, M., Nord, A., Van Doorninck, W., Greene, C., Kovar, C., & Pennington, B. (1994). Cognitive development among children with early-treated phenylketonuria. Developmental Neuropsychology, 10, 133-151.
44. McKean, C. (1972). The effects of high phenylalanine concentrations on serotonin and catecholamine metabolism in the human brain. Brain Research, 47, 469-476.
45. Moats, R. A., Koch, R., Moseley, K., Guldberg. P., Guttler, E., Boles, R. G., et al. (2000). Brain phenylalanine concentration in the management of adults with phenylketonuria. Journal of Inherited Metabolic Disease, 23, 7-14.
46. Moats, R. A., Scadeng, M., & Nelson, M. D. (1999). MR imaging and spectroscopy in PKU. Mental Retardation & Developmental Disabilities Research Reviews, 5, 132-135.
47. Momma, S., Aoyagi, M., Rapoport, S., & Smith, Q. (1987). Phenylalanine transport across the blood-brain barrier as studied with the in situ brain perfusion technique. Journal of Neurochemistry, 48, 1291-1300.
48. Moscovitch, M. (1992). Memory and working-with-memory: A component process model based on modules and central systems. Journal of Cognitive Neuroscience, 4, 257-267.
49. Osterrieth, P. (1944). Le test de copie d'une figure complexe [The complex figure copy test]. Archives de Psychologie, 30, 206-256.
50. Paans, A. M., Pruim, J., Smit, G. P., Visser, G., Willemsen, A. T., & Ullrich, K. (1996). Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study. European Journal of Pediatrics, 155, S78-81.
51. Pearsen, K., Gean-Marton, A., Levy, H., & Davis, K. (1990). Phenylketonuria: MR imaging of the brain with clinical correlation. Radiology, 177, 437-440.
52. Pennington, B. E., Van Doorninck, W. J., McCabe, L. L., & McCabe, E. R. (1985). Neuropsychological deficits in early treated Phenylketonurie children. American Journal of Mental Deficiency, 89, 467-474.
53. Pietz, J. (1998). Neurological aspects of adult phenylketonuria. Current Opinion in Neurology, 11, 679-688.
54. Pietz, J., Dunckelmann, R., Rupp, A., Rating, D., Meinck, H. M., Schmidt, H., et al. (1998). Neurological outcome in adult patients with early-treated phenylketonuria.[comment]. European Journal of Pediatrics, 157, 824-830.
55. Pietz, J., Fatkenheuer, B., Burgard, P., Armbruster, M., Esser, G., & Schmidt, H. (1997). Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics, 99, 345-350.
56. Pietz, J., Kreis, R., Schmidt, H., Meyding-Lamade, U. K., Rupp, A., & Boesch, C. (1996). Phenylketonuria: findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment. Radiology, 201, 413-420.
57. Pietz, J., Meyding-Lamade, U. K., & Schmidt, H. (1996). Magnetic resonance imaging of the brain in adolescents with phenylketonuria and in one case of 6-pyruvoyl tetrahydropteridine synthase deficiency. European Journal of Pediatrics, 155, S69-73.
58. Rey, A. (1941). L'examen clinique en psychologique dans les cas d'encephalopathic traumatique [Psychological examination of traumatic encephalopathy]. Archives de Psychologie, 28, 286-340.
59. Rey, A. (1964). L'examen clinique en psychologie. [Clinical psychological examination]. Paris: Press Universitaire de France.
60. Ris, M., Williams, S., Hunt, M., Berry, H., & Leslie, N. (1994). Early-treated phenylketonuria: Adult neuropsychologic outcome. Journal of Pediatrics, 124, 388-392.
61. Robbins, T. (2000). Chemical neuromodulation of frontal-executive functions in humans and other animals. Experimental Brain Research, 133, 130-138.
62. Sawaguchi, T., & Goldman-Rakic, P. (1991 ). D1 dopamine receptors in prefrontal cortex: involvement in working memory. Science, 251, 947-950.
63. Schmidt, E., Burgard, P., & Rupp, A. (1996). Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria. European Journal of Pediatrics, 155, S82-86.
64. 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.
65. Scriver, C., Kaufman, S., Eisensmith, R., & Woo, S. (1995). The hyperphenylalaninemias. In C. Scriver, A. Beaudet, S. Sly, & D. Valle (Eds.), The metabolic and molecular bases of inherited disease, (pp. 1025-1075). New York: McGraw-Hill.
66. Smith, M., Hanley, W., Clarke, J., Klim, P., Schoonheyt, W., Austin, V., et al. (1998). Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria. Archives of Disease in Childhood, 78, 116-121.
67. Smith, M., Klim, P., & Hanley, W. (2000). Executive function in school-aged children with phenylketonuria. Journal of Developmental & Physical Disabilities, 12, 317-332.
68. Smith, M., Klim, P., Mallozzi, E., & Hanley, W. (1996). A test of the frontal-specificity hypothesis in the cognitive performance of adults with phenylketonuria. Developmental Neuropsychology, 12, 327-341.
69. Spreen, O., & Strauss, E. (1991). A compendium of neuropsychological tests: Administration, norms and commentary. New York: Oxford University Press.
70. Stemerdink, N. B., van der Molen, M. W., Kalverboer, A. F., van der Meere, J. J., Huisman, J., de Jong, L. W., et al. (1999). Prefrontal dysfunction in early and continuously treated phenylketonuria. Developmental Neuropsychology, 16, 29-57.
71. Tam, S., & Roth, R. ( 1997). Mesoprefrontal dopaminergic neurons: Can tyrosine availability influence their functions? Biochemical Pharmacology, 53, 441-453.
72. Thompson, A., Tillotson, S., Smith, I., Kendall, B., Moore, S. G., & Brenton, D. (1993). Brain MRI changes in phenylketonuria: Associations with dietary status. Brain, 116, 811-821.
73. Wechsler, D. (1991). WISC-III: Wechsler Intelligence Scale for Children-Third Edition Manual. San Antonio, TX: The Psychological Corporation.
74. Wechsler, D. (1997). WAIS-III: Wechsler Adult Intelligence Scale - Third Edition Administration and Scoring Manual. San Antonio, TX: The Psychological Corporation.
75. Weglage, J., Pietsch, M., Denecke, J., Sprinz, A., Feldmann, R., Grenzebach, M., et al. (1999). Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence. Journal of Inherited Metabolic Disease, 22, 693-705.
76. Weglage, J., Pietsch, M., Funders, B., Koch, H., & Ullrich, K. (1995). Neurological findings in early treated phenylketonuria. Acta Paediatrica, 84, 411-415.
77. Weglage, J., Pietsch, M., Fünders, B., Koch, H., & Ullrich, K. (1996). Deficits in selective and sustained attention processes in early treated children with phenylketonuria - result of impaired frontal lobe function. European Journal of Pediatrics, 155, 200-204.
78. Weglage, J., Wiedermann, D., Denecke. J., Feldmann, R., Koch, H. G., Ullrich, K., et al. (2001). Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria, [comment]. Annals of Neurology, 50, 463-467.
79. Welsh, M., Pennington, B., Ozonoff, S., Rouse, B., & McCabe, E. (1990). Neuropsychology of early-treated phenylketonuria:Specific executive functions deficits. Child Development, 61, 1697-1713.
80. Welsh, M. C., Pennington, B. F., Ozonoff, S., & Rouse, B. (1990). Neuropsychology of early-treated phenylketonuria: Specific executive function deficits. Child Development, 61, 1697-1713.
81. White, D., Nortz, M., Mandernach, T., Huntington, K., & Steiner, R. (2001). Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychology, 15, 221-229.
82. White, D., Nortz, M., Mandernach, T., Huntington, K., & Steiner, R. (2002). Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. Journal of the International Neuropsychological Society, 8, 1-11.
83. Wilkinson, G. (1993). WRAT3: The Wide Range Achievement Test-Administration Manual. Wilmington, DE: Wide Range Inc.