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3. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

Huijbregts, Stephan C.J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C.G.J., De Sonneville, Leo M.J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E.M., Janssen, Mirian C.H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018
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4. Epidemiology of community-acquired pneumonia (CAP) in Europe during the COVID-19 pandemic –preliminary results of PNEUMO study Europe

Author

Hessels, Lisa, primary, Hullegie, Sebastiaan, additional, Jahja, Rianne, additional, Rodriguez-Baño, Jesús, additional, Blasi, Francesco, additional, François, Bruno, additional, Chalmers, James D., additional, Barten-Neiner, Grit, additional, Recio Rufián, Manuel, additional, Menéndez Villanueva, Rosario, additional, Cobo Reinoso, Javier, additional, Viglino, Damien, additional, Di Marco, Fabiano, additional, Garcia Gutiérrez, Manuel, additional, Johnson, Kelly D., additional, Weiss, Thomas, additional, Ruggieri, Madelyn, additional, Bonten, Marc, additional, and Prat Aymerich, Cristina, additional

Published
2023
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5. Quality of life following CAP hospitalization: preliminary results from the PNEUMO study Europe

Author

Hessels, Lisa, primary, Hullegie, Sebastiaan, additional, Jahja, Rianne, additional, Rodriguez-Baño, Jesús, additional, Morales Barroso, Isabel, additional, Blasi, Francesco, additional, François, Bruno, additional, Froget, Rachel, additional, Recio Rufián, Manuel, additional, Corsico, Angelo, additional, Quindos, Brigida, additional, Johnson, Kelly D, additional, Weiss, Thomas, additional, Ruggieri, Madelyn, additional, Bonten, Marc, additional, and Prat-Aymerich, Cristina, additional

Published
2023
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6. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M., Gissen, Paul, Goyens, Philippe J., McKiernan, Patrick J., Wilcox, Gisela, Morris, Andrew A. M., Jameson, Elisabeth A., Huijbregts, Stephan C. J., and van Spronsen, Francjan J.

Published
2019
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13. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria:A comparison between two genetic disorders affecting the same metabolic pathway

Author

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., van Spronsen, Francjan J., van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Abstract

Tyrosinemia type 1 (TT1) and phenylketonuria (PKU) are both inborn errors of phenylalanine–tyrosine metabolism. Neurocognitive and behavioral outcomes have always featured in PKU research but received less attention in TT1 research. This study aimed to investigate and compare neurocognitive, behavioral, and social outcomes of treated TT1 and PKU patients. We included 33 TT1 patients (mean age 11.24 years; 16 male), 31 PKU patients (mean age 10.84; 14 male), and 58 age- and gender-matched healthy controls (mean age 10.82 years; 29 male). IQ (Wechsler-subtests), executive functioning (the Behavioral Rating Inventory of Executive Functioning), mental health (the Achenbach-scales), and social functioning (the Social Skills Rating System) were assessed. Results of TT1 patients, PKU patients, and healthy controls were compared using Kruskal–Wallis tests with post-hoc Mann–Whitney U tests. TT1 patients showed a lower IQ and poorer executive functioning, mental health, and social functioning compared to healthy controls and PKU patients. PKU patients did not differ from healthy controls regarding these outcome measures. Relatively poor outcomes for TT1 patients were particularly evident for verbal IQ, BRIEF dimensions “working memory”, “plan and organize” and “monitor”, ASEBA dimensions “social problems” and “attention problems”, and for the SSRS “assertiveness” scale (all p values <0.001). To conclude, TT1 patients showed cognitive impairments on all domains studied, and appeared to be significantly more affected than PKU patients. More attention should be paid to investigating and monitoring neurocognitive outcome in TT1 and research should focus on explaining the underlying pathophysiological mechanism.

Published
2022

14. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Integrale & Alg. Kindergen Patientenzorg, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., van Spronsen, Francjan J., Metabole ziekten patientenzorg, Child Health, Infection & Immunity, Integrale & Alg. Kindergen Patientenzorg, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, Santra, Saikat, De Laet, Corinne, Goyens, Philippe J., Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Gissen, Paul, Bierau, Jörgen, van Hasselt, Peter M., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., de la Parra, Alicia, Arias, Carolina, Garcia, Maria I., Cornejo, Veronica, Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C., de Vries, Maaike C., Janssen, Mirian C.H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Published
2022

15. Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Author

van Vliet, Kimber, primary, van Ginkel, Willem G., additional, Jahja, Rianne, additional, Daly, Anne, additional, MacDonald, Anita, additional, Santra, Saikat, additional, De Laet, Corinne, additional, Goyens, Philippe J., additional, Vara, Roshni, additional, Rahman, Yusof, additional, Cassiman, David, additional, Eyskens, Francois, additional, Timmer, Corrie, additional, Mumford, Nicky, additional, Gissen, Paul, additional, Bierau, Jörgen, additional, van Hasselt, Peter M., additional, Wilcox, Gisela, additional, Morris, Andrew A. M., additional, Jameson, Elisabeth A., additional, de la Parra, Alicia, additional, Arias, Carolina, additional, Garcia, Maria I., additional, Cornejo, Veronica, additional, Bosch, Annet M., additional, Hollak, Carla E. M., additional, Rubio‐Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Hofstede, Floris C., additional, de Vries, Maaike C., additional, Janssen, Mirian C. H., additional, van der Ploeg, Ans T., additional, Langendonk, Janneke G., additional, Huijbregts, Stephan C. J., additional, and van Spronsen, Francjan J., additional

Published
2022
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18. A lifetime with Phenylketonuria:Towards a better understanding of therapeutic targets

Author

Jahja, Rianne, Jahja, Rianne, Jahja, Rianne, and Jahja, Rianne

Abstract

Dit proefschrift ‘A lifetime with Phenylketonuria. Towards a better understanding of therapeutic targets’ bevat de eerste bevindingen van het Nederlandse multicenter Phenylketonurie-COBESO onderzoek, uitgevoerd tussen 2012-2015. COBESO staat voor de cognitieve (COgnitive), gedrags- (BEhavioral) en sociale (SOcial) maten die onderzocht zijn in deze studie. 108 Patiënten met phenylketonurie (PKU) uit zes universitair medische centra en 112 gezonde controles van verschillende leeftijden zijn geïncludeerd. De doelstelling was het onderzoeken van cognitief functioneren, mentale gezondheid, sociaal cognitief functioneren en sociale vaardigheden bij vroeg en continu behandelde PKU patiënten in relatie tot hun metabole controle (gemeten aan de hand van phenylalaninewaarden in het bloed), behandeling en behandelrichtlijnen. Cognitieve en internaliserende gedragsproblemen zijn met name gevonden bij volwassen PKU patiënten. Adolescenten met PKU hadden ook problemen met sociale cognitie, maar deze problemen waren het meest uitgesproken bij volwassen patiënten. Problemen op alle gebieden waren gerelateerd aan hoge phenylalaninewaarden tijdens verschillende levensfasen. Er zijn meerdere belangrijke bevindingen betreffende behandelrichtlijnen. Patiënten met phenylalanine concentraties onder de 360 µmol/L in de kindertijd en boven de 360 µmol/L vanaf adolescentie hadden betere cognitieve uitkomsten in volwassenheid dan degenen met phenylalanine boven de 360 µmol/L gedurende hun leven. Phenylalanine in de kindertijd lijkt het meest belangrijk voor cognitieve en gedragsuitkomsten in volwassenheid. Verder lijkt een grotere toename van phenylalanine in de adolescentie ook belangrijk voor cognitieve uitkomsten in de volwassenheid. Bovendien, een phenylalanine level van 240 µmol/ L in de kindertijd is mogelijk een betere behandelrichtlijn voor beter cognitief functioneren vergeleken met de meest geadviseerde phenylalanine bovengrens van 360 µmol/L., The thesis ‘A lifetime with Phenylketonuria. Towards a better understanding of therapeutic targets’ provides the first findings of the Dutch multicentre Phenylketonuria-COBESO study, conducted between 2012-2015. COBESO stands for the COgnitive, BEhavioural and SOcial issues examined in this study. 108 Patients with phenylketonuria (PKU) from six university medical centres and 112 healthy controls of various ages were included. The objective was to examine cognitive functioning, mental health, social cognitive functioning and social skills of early and continuously treated patients with PKU in relation to their metabolic control (as measured by blood phenylalanine levels), treatment and treatment guidelines. Cognitive and internalizing behavioural problems were mainly observed in adult PKU patients. Among adolescents with PKU, problems with social cognition were also observed, but generally such difficulties were most pronounced in adult patients. Problems in all domains were related to high phenylalanine levels at different stages in life. There are several important findings concerning treatment guidelines. Patients with phenylalanine concentrations below 360 µmol/L in childhood and above 360 µmol/L from adolescence onwards had better cognitive outcome in adulthood than those with phenylalanine above 360 µmol/L during their lifespan. Childhood phenylalanine seemed most important for cognitive and mental health outcomes in adulthood. A greater increase of phenylalanine between childhood and adolescence also seemed important for cognitive outcome in adulthood. Moreover, a phenylalanine level of 240 µmol/L may be a better treatment target in childhood for better cognitive functioning compared to the most widely recommended upper target phenylalanine limit of 360 µmol/L.

Published
2017

19. MOESM3 of Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

Kimber Vliet, Ginkel, Willem, Jahja, Rianne, Daly, Anne, MacDonald, Anita, Laet, Corinne, Vara, Roshni, Yusof Rahman, Cassiman, David, Francois Eyskens, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, Hasselt, Peter, Gissen, Paul, Goyens, Philippe, McKiernan, Patrick, Wilcox, Gisela, Morris, Andrew, Jameson, Elisabeth, Huijbregts, Stephan, and Francjan Spronsen

Abstract

Additional file 3. Summarized results of correlation analyses between phenylalanine and tyrosine concentrations and neurocognitive outcome scores. Summarized results of correlation analyses between phenylalanine and tyrosine concentrations and neurocognitive outcome scores. Only scales with significant correlations, with p-values

Published
2019
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20. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

Author

Cluster C, Metabole ziekten patientenzorg, Child Health, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M., Gissen, Paul, Goyens, Philippe J., McKiernan, Patrick J., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., Huijbregts, Stephan C.J., van Spronsen, Francjan J., Cluster C, Metabole ziekten patientenzorg, Child Health, van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M., Gissen, Paul, Goyens, Philippe J., McKiernan, Patrick J., Wilcox, Gisela, Morris, Andrew A.M., Jameson, Elisabeth A., Huijbregts, Stephan C.J., and van Spronsen, Francjan J.

Published
2019

21. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J., Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018

22. The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Author

DT Papegaai, Child Health, Algemeen management, Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., Van Spronsen, Francjan J., DT Papegaai, Child Health, Algemeen management, Huijbregts, Stephan C. J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C. G. J., De Sonneville, Leo M. J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Rubio-Gozalbo, M. Estela, Van der Meere, Jaap J., Van der Ploeg, Ans T., and Van Spronsen, Francjan J.

Published
2018

23. A lifetime with Phenylketonuria: Towards a better understanding of therapeutic targets

Author

Jahja, Rianne, van Spronsen, Francjan, van der Meere, Jaap, and Huijbregts, S. C. J.

Abstract

Dit proefschrift ‘A lifetime with Phenylketonuria. Towards a better understanding of therapeutic targets’ bevat de eerste bevindingen van het Nederlandse multicenter Phenylketonurie-COBESO onderzoek, uitgevoerd tussen 2012-2015. COBESO staat voor de cognitieve (COgnitive), gedrags- (BEhavioral) en sociale (SOcial) maten die onderzocht zijn in deze studie. 108 Patiënten met phenylketonurie (PKU) uit zes universitair medische centra en 112 gezonde controles van verschillende leeftijden zijn geïncludeerd. De doelstelling was het onderzoeken van cognitief functioneren, mentale gezondheid, sociaal cognitief functioneren en sociale vaardigheden bij vroeg en continu behandelde PKU patiënten in relatie tot hun metabole controle (gemeten aan de hand van phenylalaninewaarden in het bloed), behandeling en behandelrichtlijnen. Cognitieve en internaliserende gedragsproblemen zijn met name gevonden bij volwassen PKU patiënten. Adolescenten met PKU hadden ook problemen met sociale cognitie, maar deze problemen waren het meest uitgesproken bij volwassen patiënten. Problemen op alle gebieden waren gerelateerd aan hoge phenylalaninewaarden tijdens verschillende levensfasen. Er zijn meerdere belangrijke bevindingen betreffende behandelrichtlijnen. Patiënten met phenylalanine concentraties onder de 360 µmol/L in de kindertijd en boven de 360 µmol/L vanaf adolescentie hadden betere cognitieve uitkomsten in volwassenheid dan degenen met phenylalanine boven de 360 µmol/L gedurende hun leven. Phenylalanine in de kindertijd lijkt het meest belangrijk voor cognitieve en gedragsuitkomsten in volwassenheid. Verder lijkt een grotere toename van phenylalanine in de adolescentie ook belangrijk voor cognitieve uitkomsten in de volwassenheid. Bovendien, een phenylalanine level van 240 µmol/ L in de kindertijd is mogelijk een betere behandelrichtlijn voor beter cognitief functioneren vergeleken met de meest geadviseerde phenylalanine bovengrens van 360 µmol/L.

Published
2017

24. Cognitive profile and mental health in adult phenylketonuria : A PKU-COBESO study

Author

Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J., Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and van Spronsen, Francjan J.

Published
2017

25. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study

Author

DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., van Spronsen, Francjan J., DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, Huijbregts, Stephan C. J., De Sonneville, Leo M J, van der Meere, Jaap J., Legemaat, Amanda M, Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and van Spronsen, Francjan J.

Published
2017

26. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Author

DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., DT Papegaai, Algemeen management, Child Health, Jahja, Rianne, van Spronsen, Francjan J., De Sonneville, Leo M J, van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2017

27. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients

Author

Tanguay, RM, van Ginkel, Willem G., Jahja, Rianne, Huijbregts, Stephan C. J., van Spronsen, Francjan J., Tanguay, RM, van Ginkel, Willem G., Jahja, Rianne, Huijbregts, Stephan C. J., and van Spronsen, Francjan J.

Abstract

Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. However, recurrent neurological crises are another main finding in these patients when they are treated with a tyrosine and phenylalanine restricted diet only. This is caused by the accumulation of delta-aminolevulinic acid due to the inhibitory effect of succinylacetone on the enzyme that metabolizes d-aminolevulinic acid. Due to the biochemical and clinical resemblance of these neurological crises and acute intermittent porphyria, this group of symptoms in HTI patients is mostly called porphyria-like-syndrome. The neurological crises in HTI patients disappeared after the introduction of treatment with 2-(2 nitro-4-3 trifluoro-methylbenzoyl)-1,3-cyclohexanedione (NTBC). However, if NTBC treatment is stopped for a while, severe neurological dysfunction will reappear.If NTBC treatment is started early and given continuously, all clinical problems seem to be solved. However, recent research findings indicate that HTI patients have a non-optimal neurocognitive outcome, showing (among others) a lower IQ and impaired executive functioning and social cognition. Unfortunately the exact neuropsychological profile of these HTI patients is not known yet, neither are the exact pathophysiological mechanisms underlying these impairments. It may be hypothesized that the biochemical changes such as high blood tyrosine or low blood phenylalanine concentrations are important in this respect, but an direct toxic effect of NTBC or production of toxic metabolites (that previously characterized the disease before introduction of NTBC) cannot be excluded either. This chapter discusses the neurological and neuropsychological symptoms associated with HTI in detail. An extended section on possible underlying pathophysiological mechanisms of such symptoms is also included.

Published
2017

28. Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

Author

Jahja, Rianne, primary, Huijbregts, Stephan C. J., additional, de Sonneville, Leo M. J., additional, van der Meere, Jaap J., additional, Legemaat, Amanda M., additional, Bosch, Annet M., additional, Hollak, Carla E. M., additional, Rubio-Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Hofstede, Floris C., additional, de Vries, Maaike C., additional, Janssen, Mirian C. H., additional, van der Ploeg, Ans T., additional, Langendonk, Janneke G., additional, and van Spronsen, Francjan J., additional

Published
2017
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29. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Author

DT Papegaai, Child Health, Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, Huijbregts, Stephan C J, DT Papegaai, Child Health, Jahja, Rianne, van Spronsen, Francjan J, de Sonneville, Leo M J, van der Meere, Jaap J, Bosch, Annet M, Hollak, Carla E M, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J, Hofstede, FC, de Vries, Maaike C, Janssen, Mirian C H, van der Ploeg, Ans T, Langendonk, Janneke G, and Huijbregts, Stephan C J

Published
2016

30. Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Author

Van Ginkel, Willem W.G., Goyens, Philippe, McKiernan, Patrick, Van Spronsen, Francjan, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M L W I.M.L.W., Van Ginkel, Willem W.G., Goyens, Philippe, McKiernan, Patrick, Van Spronsen, Francjan, Jahja, Rianne, Huijbregts, Stephan C J, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, and Körver-Keularts, Irene M L W I.M.L.W.

Abstract

Background: Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disorder caused by a defect in the enzyme Fumarylacetoacetate Hydrolase. Due to this defect, toxic products accumulate which, in turn, cause liver and kidney dysfunction. Treatment with 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and diet has diminished these problems, but recent data indicate that HT1 patients have neurocognitive problems. However, the neuropsychological profile of these patients is unknown. Therefore, this study aimed to investigate this neuropsychological profile by comparing HT1 patients with healthy controls. Methods: Neurocognitive testing was performed in a heterogeneous group of 19 NTBC and dietary treated HT1 patients (five female, fourteen male; mean age 12.9 ± 4.8 years; range 7.9-23.6 years) and 19 age and gender matched controls (five female, fourteen male; mean age 13.2 ± 4.6 years; range 8.1-24.8 years). IQ scores were estimated and all participants performed the Amsterdam Neuropsychological Tasks, measuring executive functions (inhibition, cognitive flexibility and working memory) and social cognition (face recognition and identification of facial emotions). Results: HT1 patients showed poorer estimated IQ, executive functioning (working memory and cognitive flexibility), and social cognition compared to healthy controls. Lower IQ scores in HT1 patients were mostly unrelated to scores on executive function- and social cognition tasks and therefore did not account for group differences in these domains. Further analyses within the HT1 patient group (comparing different groups of patients based on the age at diagnosis and the clinical symptoms at diagnosis) did not reveal any significant results. The duration of NTBC treatment was negatively correlated with IQ. Conclusions: Despite the heterogeneity of the patient group, these data clearly show that IQ, executive functioning and social cognition are affected in HT1 patients, and that IQ screening is, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

31. Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

Author

van Ginkel, Willem G., primary, Jahja, Rianne, additional, Huijbregts, Stephan C. J., additional, Daly, Anne, additional, MacDonald, Anita, additional, De Laet, Corinne, additional, Cassiman, David, additional, Eyskens, François, additional, Körver-Keularts, Irene M. L. W., additional, Goyens, Philippe J., additional, McKiernan, Patrick J., additional, and van Spronsen, Francjan J., additional

Published
2016
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32. Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Author

MDL patientenzorg, Child Health, Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., Huijbregts, Stephan C. J., MDL patientenzorg, Child Health, Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, FC, de Vries, Maaike C., Janssen, Mirian C. H., van der Ploeg, Ans T., Langendonk, Janneke G., and Huijbregts, Stephan C. J.

Published
2015

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