Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
| Autor: | Keller M; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Brennenstuhl H; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Kuseyri Hübschmann O; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Manti F; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Julia Palacios NA; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Friedman J; UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey., Koht JA; Department of Neurology, Oslo University Hospital, Oslo, Norway., Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong., Zafeiriou DI; First Department of Pediatrics Aristotle University of Thessaloniki, Thessaloniki, Greece., López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain., Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece., Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Jeltsch K; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Serrano-Lomelin J; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada., Garbade SF; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany.; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany., Opladen T; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Goez H; Department of Pediatrics, University of Alberta, Glenrose Rehabilitation Hospital, Edmonton, Alberta, Canada., Burlina A; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy., Cortès-Saladelafont E; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain., Fernández Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain., García-Cazorla A; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain., Hoffmann GF; Division of Child Neurology and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany., Kiat Hong ST; KTP-National University Children's Medical Institute, National University Health System, Singapore, Singapore., Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kavecan I; Faculty of Medicine, University of Novi Sad, Institute for Children and Youth Health Care of Vojvodina, Novi Sad, Serbia., Kurian MA; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK., Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Lücke T; University Children's Hospital, St. Josef-Hospital, Ruhr-University Bochum, Bochum, Germany., Manzoni F; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy., Mastrangelo M; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Medical Genetics, University of Alberta, Women and Children's Health Research Institute, Stollery Children's Hospital, Edmonton, Alberta, Canada., Mir P; Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología Clínica Unidad de Gestión Clínica de Neurociencias Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío, Sevilla, Spain., Oppebøen M; Children's Department Division of Child Neurology Oslo University Hospital Rikshospitalet, Oslo, Norway., Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA., Sivri HS; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Pediatric Metabolism, Ankara, Turkey., Steel D; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK., Stevanović G; Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia., Fung CW; Department of Pediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Hong Kong, Hong Kong. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Nov; Vol. 44 (6), pp. 1489-1502. Date of Electronic Publication: 2021 Aug 02. |
| DOI: | 10.1002/jimd.12416 |
| Abstrakt: | Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH (© 2021 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.) |
| Databáze: | MEDLINE |
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