Psychiatric symptoms and disorders in phenylketonuria |
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| Authors: | V.L. Brumm D. Bilder S.E. Waisbren |
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| Affiliation: | 1. Department of Psychological Sciences, University of Missouri, Columbia, MO, United States;2. Department of Human Development and Family Studies, University of Missouri, Columbia, MO, United States;3. Department of Child Health, University of Missouri, Columbia, MO, United States;1. Department of Pediatrics, Emma Children''s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;2. Psychosocial Department, Emma Children''s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands;3. Department of Pediatrics, Division of Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands;4. Department of Metabolic Diseases, Wilhelmina Children''s Hospital Utrecht, University Medical Center, Utrecht, The Netherlands;5. Department of Internal Medicine, Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;6. Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands;7. Department of Pediatrics, Free University Medical Center (VUMC), Amsterdam, The Netherlands;8. Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands;9. Division of Metabolic Diseases, Beatrix Children''s Hospital, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands;10. Institute for Genetic and Metabolic Disease, Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;1. Department of Child and Adolescent Neuropsychiatry, SAPIENZA University of Rome, Via dei Sabelli 108, 00185 Rome, Italy;2. Department of Physiology and Pharmacology, SAPIENZA University of Rome, Piazzale Aldo Moro 5, 00185, Rome, Italy;3. Istituto Superiore di Sanità, Department of Cell Biology and Neuroscience, Viale Regina Elena 299, 00161 Rome, Italy;4. Department of Experimental Medicine, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Roma, Italy;1. Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain;2. Unit of Metabolism, Department of Pediatrics, Hospital de Cruces, Group of Metabolism, Biocruces Health Research Institute, CIBERER, Plaza de Cruces s/n, 48903 Barakaldo, Vizcaya, Spain;3. Unit of Metabolopathies, Hospital Universitario la Fe, Bulevarsur s/n, 46021 Valencia, Spain;4. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain;5. Unit of Gastroenterology and Nutrition, Department of Pediatrics, Hospital Clinico Universitario de Santiago, IDIS, Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain;6. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clinico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Travesía da Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain;7. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain;1. Department of Human Neuroscience, Sapienza University of Rome, Italy;2. Department of Internal Medicine and Clinical Nutrition, Sapienza University of Rome, Italy;3. Department of Experimental Medicine, Sapienza University of Rome, Italy |
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| Abstract: | Psychological and psychiatric problems are well documented across the lifespan of individuals with early-treated phenylketonuria (PKU). Early-treated children and adolescents tend to display attentional problems, school problems, lower achievement motivation, decreased social competence, decreased autonomy, and low-self-esteem. As they enter adulthood, early-treated individuals may carry forward low self-esteem and lack of autonomy but also tend to develop depressed mood, generalized anxiety, phobias, decreased positive emotions, social maturity deficits, and social isolation. The correlation between level of metabolic control and severity of symptoms suggests a biological basis of psychiatric dysfunction. Additionally, psychosocial factors such as the burden of living with a chronic illness may contribute to psychological and psychiatric outcomes in PKU. The lack of a PKU-specific psychiatric phenotype combined with the observation that not everyone with PKU is affected highlights the complexity of the problem. More research on psychiatric and psychological outcomes in PKU is required. Of particular importance is the routine monitoring of emotional, behavioral, and psychosocial symptoms in individuals with this metabolic disorder. Longitudinal studies are required to evaluate the impact of new and emerging therapies on psychiatric and psychosocial functioning in PKU. Unidentified or untreated emotional and behavioral symptoms may have a significant, lifelong impact on the quality of life and social status of patients. |
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