Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry
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...
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
November 2021 |
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Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 |
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| Umfang: |
14 |
| Übergeordnetes Werk: |
Enthalten in: Journal of inherited metabolic disease - Hoboken, NJ : Wiley, 1978, 44(2021), 6 vom: Nov., Seite 1489-1502 |
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| Übergeordnetes Werk: |
volume:44 ; year:2021 ; number:6 ; month:11 ; pages:1489-1502 ; extent:14 |
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| DOI / URN: |
10.1002/jimd.12416 |
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| Katalog-ID: |
1855014254 |
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| 245 | 1 | 0 | |a Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders |b Data from the iNTD registry |c Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung |
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| 520 | |a 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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. | ||
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10.1002/jimd.12416 doi (DE-627)1855014254 (DE-599)KXP1855014254 (OCoLC)1425063175 DE-627 ger DE-627 rda eng Keller, Mareike verfasserin (DE-588)1242124411 (DE-627)1772054992 aut Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung November 2021 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. behavioral phenotype cognitive impairment iNTD intelligence neurotransmitter deficiencies quality of life Brennenstuhl, Heiko 1987- verfasserin (DE-588)1105686965 (DE-627)862755344 (DE-576)473681382 aut Kuseyri Hübschmann, Oya 1985- verfasserin (DE-588)1038105617 (DE-627)756673372 (DE-576)392127156 aut Manti, Filippo verfasserin (DE-588)1192824482 (DE-627)167135673X aut Julia Palacios, Natalia Alexandra verfasserin aut Friedman, Jennifer R. verfasserin (DE-588)1158639155 (DE-627)1020628928 (DE-576)504272365 aut Yıldız, Yılmaz verfasserin (DE-588)129877893X (DE-627)1854646575 aut Koht, Jeanette Aimee verfasserin aut Wong, Suet-Na verfasserin aut Zafeiriou, Dimitrios I. verfasserin aut López-Laso, Eduardo verfasserin aut Pons, Roser verfasserin aut Kulhánek, Jan verfasserin aut Jeltsch, Kathrin 1981- verfasserin (DE-588)144019353 (DE-627)656815140 (DE-576)340367520 aut Serrano-Lomelin, Jesus verfasserin aut Garbade, Sven 1971- verfasserin (DE-588)129234362 (DE-627)707186889 (DE-576)297554263 aut Opladen, Thomas 1974- verfasserin (DE-588)124489656 (DE-627)642820481 (DE-576)335321291 aut Goez, Helly verfasserin aut Burlina, Alberto verfasserin aut Cortès-Saladelafont, Elisenda verfasserin aut Fernández Ramos, Joaquín Alejandro verfasserin aut García-Cazorla, Angeles verfasserin aut Hoffmann, Georg F. 1957- verfasserin (DE-588)115652868 (DE-627)077386116 (DE-576)261230042 aut Kiat Hong, Stacey Tay verfasserin aut Honzík, Tomáš verfasserin aut Kavecan, Ivana verfasserin aut Kurian, Manju A. verfasserin aut Leuzzi, Vincenzo verfasserin aut Lücke, Thomas verfasserin aut Manzoni, Francesca verfasserin aut Mastrangelo, Mario verfasserin aut Mercimek-Andrews, Saadet verfasserin aut Mir, Pablo verfasserin aut Oppebøen, Mari verfasserin aut Pearson, Toni S. verfasserin aut Sivri, H. Serap verfasserin aut Steel, Dora verfasserin aut Stevanović, Galina verfasserin aut Fung, Cheuk-Wing verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 44(2021), 6 vom: Nov., Seite 1489-1502 Online-Ressource (DE-627)320457753 (DE-600)2006875-X (DE-576)105704652 1573-2665 nnns volume:44 year:2021 number:6 month:11 pages:1489-1502 extent:14 https://doi.org/10.1002/jimd.12416 Resolving-System Verlag kostenfrei Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 Verlag kostenfrei Volltext GBV_USEFLAG_U GBV_ILN_2011 ISIL_DE-16 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_2013 GBV_ILN_2403 GBV_ILN_2013 ISIL_DE-16-250 GBV_ILN_2403 ISIL_DE-LFER AR 44 2021 6 11 1489-1502 14 2011 01 DE-16 4367079287 00 --%%-- --%%-- --%%-- --%%-- l01 17-08-23 2013 01 DE-16-250 4364175730 00 --%%-- --%%-- --%%-- --%%-- l01 09-08-23 2403 01 DE-LFER 4374551824 00 --%%-- --%%-- n --%%-- l01 12-09-23 2403 01 DE-LFER https://doi.org/10.1002/jimd.12416 2403 01 DE-LFER https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 2013 01 DE-16-250 00 s hd2021 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_39 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1772055239 Keller, Mareike 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1677253622 Brennenstuhl, Heiko 2013 01 DE-16-250 05 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_2 2013 01 DE-16-250 06 p (DE-627)149386369X Kuseyri Hübschmann, Oya 2013 01 DE-16-250 06 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_3 2013 01 DE-16-250 07 p (DE-627)1497344778 Jeltsch, Kathrin 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_14 2013 01 DE-16-250 08 p (DE-627)1529261783 Garbade, Sven 2013 01 DE-16-250 08 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_16 2013 01 DE-16-250 09 p (DE-627)1484119673 Opladen, Thomas 2013 01 DE-16-250 09 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_17 2013 01 DE-16-250 10 p (DE-627)1436198674 Hoffmann, Georg F. 2013 01 DE-16-250 10 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_23 |
| spelling |
10.1002/jimd.12416 doi (DE-627)1855014254 (DE-599)KXP1855014254 (OCoLC)1425063175 DE-627 ger DE-627 rda eng Keller, Mareike verfasserin (DE-588)1242124411 (DE-627)1772054992 aut Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung November 2021 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. behavioral phenotype cognitive impairment iNTD intelligence neurotransmitter deficiencies quality of life Brennenstuhl, Heiko 1987- verfasserin (DE-588)1105686965 (DE-627)862755344 (DE-576)473681382 aut Kuseyri Hübschmann, Oya 1985- verfasserin (DE-588)1038105617 (DE-627)756673372 (DE-576)392127156 aut Manti, Filippo verfasserin (DE-588)1192824482 (DE-627)167135673X aut Julia Palacios, Natalia Alexandra verfasserin aut Friedman, Jennifer R. verfasserin (DE-588)1158639155 (DE-627)1020628928 (DE-576)504272365 aut Yıldız, Yılmaz verfasserin (DE-588)129877893X (DE-627)1854646575 aut Koht, Jeanette Aimee verfasserin aut Wong, Suet-Na verfasserin aut Zafeiriou, Dimitrios I. verfasserin aut López-Laso, Eduardo verfasserin aut Pons, Roser verfasserin aut Kulhánek, Jan verfasserin aut Jeltsch, Kathrin 1981- verfasserin (DE-588)144019353 (DE-627)656815140 (DE-576)340367520 aut Serrano-Lomelin, Jesus verfasserin aut Garbade, Sven 1971- verfasserin (DE-588)129234362 (DE-627)707186889 (DE-576)297554263 aut Opladen, Thomas 1974- verfasserin (DE-588)124489656 (DE-627)642820481 (DE-576)335321291 aut Goez, Helly verfasserin aut Burlina, Alberto verfasserin aut Cortès-Saladelafont, Elisenda verfasserin aut Fernández Ramos, Joaquín Alejandro verfasserin aut García-Cazorla, Angeles verfasserin aut Hoffmann, Georg F. 1957- verfasserin (DE-588)115652868 (DE-627)077386116 (DE-576)261230042 aut Kiat Hong, Stacey Tay verfasserin aut Honzík, Tomáš verfasserin aut Kavecan, Ivana verfasserin aut Kurian, Manju A. verfasserin aut Leuzzi, Vincenzo verfasserin aut Lücke, Thomas verfasserin aut Manzoni, Francesca verfasserin aut Mastrangelo, Mario verfasserin aut Mercimek-Andrews, Saadet verfasserin aut Mir, Pablo verfasserin aut Oppebøen, Mari verfasserin aut Pearson, Toni S. verfasserin aut Sivri, H. Serap verfasserin aut Steel, Dora verfasserin aut Stevanović, Galina verfasserin aut Fung, Cheuk-Wing verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 44(2021), 6 vom: Nov., Seite 1489-1502 Online-Ressource (DE-627)320457753 (DE-600)2006875-X (DE-576)105704652 1573-2665 nnns volume:44 year:2021 number:6 month:11 pages:1489-1502 extent:14 https://doi.org/10.1002/jimd.12416 Resolving-System Verlag kostenfrei Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 Verlag kostenfrei Volltext GBV_USEFLAG_U GBV_ILN_2011 ISIL_DE-16 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_2013 GBV_ILN_2403 GBV_ILN_2013 ISIL_DE-16-250 GBV_ILN_2403 ISIL_DE-LFER AR 44 2021 6 11 1489-1502 14 2011 01 DE-16 4367079287 00 --%%-- --%%-- --%%-- --%%-- l01 17-08-23 2013 01 DE-16-250 4364175730 00 --%%-- --%%-- --%%-- --%%-- l01 09-08-23 2403 01 DE-LFER 4374551824 00 --%%-- --%%-- n --%%-- l01 12-09-23 2403 01 DE-LFER https://doi.org/10.1002/jimd.12416 2403 01 DE-LFER https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 2013 01 DE-16-250 00 s hd2021 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_39 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1772055239 Keller, Mareike 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1677253622 Brennenstuhl, Heiko 2013 01 DE-16-250 05 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_2 2013 01 DE-16-250 06 p (DE-627)149386369X Kuseyri Hübschmann, Oya 2013 01 DE-16-250 06 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_3 2013 01 DE-16-250 07 p (DE-627)1497344778 Jeltsch, Kathrin 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_14 2013 01 DE-16-250 08 p (DE-627)1529261783 Garbade, Sven 2013 01 DE-16-250 08 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_16 2013 01 DE-16-250 09 p (DE-627)1484119673 Opladen, Thomas 2013 01 DE-16-250 09 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_17 2013 01 DE-16-250 10 p (DE-627)1436198674 Hoffmann, Georg F. 2013 01 DE-16-250 10 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_23 |
| allfields_unstemmed |
10.1002/jimd.12416 doi (DE-627)1855014254 (DE-599)KXP1855014254 (OCoLC)1425063175 DE-627 ger DE-627 rda eng Keller, Mareike verfasserin (DE-588)1242124411 (DE-627)1772054992 aut Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung November 2021 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. behavioral phenotype cognitive impairment iNTD intelligence neurotransmitter deficiencies quality of life Brennenstuhl, Heiko 1987- verfasserin (DE-588)1105686965 (DE-627)862755344 (DE-576)473681382 aut Kuseyri Hübschmann, Oya 1985- verfasserin (DE-588)1038105617 (DE-627)756673372 (DE-576)392127156 aut Manti, Filippo verfasserin (DE-588)1192824482 (DE-627)167135673X aut Julia Palacios, Natalia Alexandra verfasserin aut Friedman, Jennifer R. verfasserin (DE-588)1158639155 (DE-627)1020628928 (DE-576)504272365 aut Yıldız, Yılmaz verfasserin (DE-588)129877893X (DE-627)1854646575 aut Koht, Jeanette Aimee verfasserin aut Wong, Suet-Na verfasserin aut Zafeiriou, Dimitrios I. verfasserin aut López-Laso, Eduardo verfasserin aut Pons, Roser verfasserin aut Kulhánek, Jan verfasserin aut Jeltsch, Kathrin 1981- verfasserin (DE-588)144019353 (DE-627)656815140 (DE-576)340367520 aut Serrano-Lomelin, Jesus verfasserin aut Garbade, Sven 1971- verfasserin (DE-588)129234362 (DE-627)707186889 (DE-576)297554263 aut Opladen, Thomas 1974- verfasserin (DE-588)124489656 (DE-627)642820481 (DE-576)335321291 aut Goez, Helly verfasserin aut Burlina, Alberto verfasserin aut Cortès-Saladelafont, Elisenda verfasserin aut Fernández Ramos, Joaquín Alejandro verfasserin aut García-Cazorla, Angeles verfasserin aut Hoffmann, Georg F. 1957- verfasserin (DE-588)115652868 (DE-627)077386116 (DE-576)261230042 aut Kiat Hong, Stacey Tay verfasserin aut Honzík, Tomáš verfasserin aut Kavecan, Ivana verfasserin aut Kurian, Manju A. verfasserin aut Leuzzi, Vincenzo verfasserin aut Lücke, Thomas verfasserin aut Manzoni, Francesca verfasserin aut Mastrangelo, Mario verfasserin aut Mercimek-Andrews, Saadet verfasserin aut Mir, Pablo verfasserin aut Oppebøen, Mari verfasserin aut Pearson, Toni S. verfasserin aut Sivri, H. Serap verfasserin aut Steel, Dora verfasserin aut Stevanović, Galina verfasserin aut Fung, Cheuk-Wing verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 44(2021), 6 vom: Nov., Seite 1489-1502 Online-Ressource (DE-627)320457753 (DE-600)2006875-X (DE-576)105704652 1573-2665 nnns volume:44 year:2021 number:6 month:11 pages:1489-1502 extent:14 https://doi.org/10.1002/jimd.12416 Resolving-System Verlag kostenfrei Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 Verlag kostenfrei Volltext GBV_USEFLAG_U GBV_ILN_2011 ISIL_DE-16 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_2013 GBV_ILN_2403 GBV_ILN_2013 ISIL_DE-16-250 GBV_ILN_2403 ISIL_DE-LFER AR 44 2021 6 11 1489-1502 14 2011 01 DE-16 4367079287 00 --%%-- --%%-- --%%-- --%%-- l01 17-08-23 2013 01 DE-16-250 4364175730 00 --%%-- --%%-- --%%-- --%%-- l01 09-08-23 2403 01 DE-LFER 4374551824 00 --%%-- --%%-- n --%%-- l01 12-09-23 2403 01 DE-LFER https://doi.org/10.1002/jimd.12416 2403 01 DE-LFER https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 2013 01 DE-16-250 00 s hd2021 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_39 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1772055239 Keller, Mareike 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1677253622 Brennenstuhl, Heiko 2013 01 DE-16-250 05 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_2 2013 01 DE-16-250 06 p (DE-627)149386369X Kuseyri Hübschmann, Oya 2013 01 DE-16-250 06 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_3 2013 01 DE-16-250 07 p (DE-627)1497344778 Jeltsch, Kathrin 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_14 2013 01 DE-16-250 08 p (DE-627)1529261783 Garbade, Sven 2013 01 DE-16-250 08 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_16 2013 01 DE-16-250 09 p (DE-627)1484119673 Opladen, Thomas 2013 01 DE-16-250 09 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_17 2013 01 DE-16-250 10 p (DE-627)1436198674 Hoffmann, Georg F. 2013 01 DE-16-250 10 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_23 |
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10.1002/jimd.12416 doi (DE-627)1855014254 (DE-599)KXP1855014254 (OCoLC)1425063175 DE-627 ger DE-627 rda eng Keller, Mareike verfasserin (DE-588)1242124411 (DE-627)1772054992 aut Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung November 2021 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. behavioral phenotype cognitive impairment iNTD intelligence neurotransmitter deficiencies quality of life Brennenstuhl, Heiko 1987- verfasserin (DE-588)1105686965 (DE-627)862755344 (DE-576)473681382 aut Kuseyri Hübschmann, Oya 1985- verfasserin (DE-588)1038105617 (DE-627)756673372 (DE-576)392127156 aut Manti, Filippo verfasserin (DE-588)1192824482 (DE-627)167135673X aut Julia Palacios, Natalia Alexandra verfasserin aut Friedman, Jennifer R. verfasserin (DE-588)1158639155 (DE-627)1020628928 (DE-576)504272365 aut Yıldız, Yılmaz verfasserin (DE-588)129877893X (DE-627)1854646575 aut Koht, Jeanette Aimee verfasserin aut Wong, Suet-Na verfasserin aut Zafeiriou, Dimitrios I. verfasserin aut López-Laso, Eduardo verfasserin aut Pons, Roser verfasserin aut Kulhánek, Jan verfasserin aut Jeltsch, Kathrin 1981- verfasserin (DE-588)144019353 (DE-627)656815140 (DE-576)340367520 aut Serrano-Lomelin, Jesus verfasserin aut Garbade, Sven 1971- verfasserin (DE-588)129234362 (DE-627)707186889 (DE-576)297554263 aut Opladen, Thomas 1974- verfasserin (DE-588)124489656 (DE-627)642820481 (DE-576)335321291 aut Goez, Helly verfasserin aut Burlina, Alberto verfasserin aut Cortès-Saladelafont, Elisenda verfasserin aut Fernández Ramos, Joaquín Alejandro verfasserin aut García-Cazorla, Angeles verfasserin aut Hoffmann, Georg F. 1957- verfasserin (DE-588)115652868 (DE-627)077386116 (DE-576)261230042 aut Kiat Hong, Stacey Tay verfasserin aut Honzík, Tomáš verfasserin aut Kavecan, Ivana verfasserin aut Kurian, Manju A. verfasserin aut Leuzzi, Vincenzo verfasserin aut Lücke, Thomas verfasserin aut Manzoni, Francesca verfasserin aut Mastrangelo, Mario verfasserin aut Mercimek-Andrews, Saadet verfasserin aut Mir, Pablo verfasserin aut Oppebøen, Mari verfasserin aut Pearson, Toni S. verfasserin aut Sivri, H. Serap verfasserin aut Steel, Dora verfasserin aut Stevanović, Galina verfasserin aut Fung, Cheuk-Wing verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 44(2021), 6 vom: Nov., Seite 1489-1502 Online-Ressource (DE-627)320457753 (DE-600)2006875-X (DE-576)105704652 1573-2665 nnns volume:44 year:2021 number:6 month:11 pages:1489-1502 extent:14 https://doi.org/10.1002/jimd.12416 Resolving-System Verlag kostenfrei Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 Verlag kostenfrei Volltext GBV_USEFLAG_U GBV_ILN_2011 ISIL_DE-16 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_2013 GBV_ILN_2403 GBV_ILN_2013 ISIL_DE-16-250 GBV_ILN_2403 ISIL_DE-LFER AR 44 2021 6 11 1489-1502 14 2011 01 DE-16 4367079287 00 --%%-- --%%-- --%%-- --%%-- l01 17-08-23 2013 01 DE-16-250 4364175730 00 --%%-- --%%-- --%%-- --%%-- l01 09-08-23 2403 01 DE-LFER 4374551824 00 --%%-- --%%-- n --%%-- l01 12-09-23 2403 01 DE-LFER https://doi.org/10.1002/jimd.12416 2403 01 DE-LFER https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 2013 01 DE-16-250 00 s hd2021 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_39 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1772055239 Keller, Mareike 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1677253622 Brennenstuhl, Heiko 2013 01 DE-16-250 05 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_2 2013 01 DE-16-250 06 p (DE-627)149386369X Kuseyri Hübschmann, Oya 2013 01 DE-16-250 06 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_3 2013 01 DE-16-250 07 p (DE-627)1497344778 Jeltsch, Kathrin 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_14 2013 01 DE-16-250 08 p (DE-627)1529261783 Garbade, Sven 2013 01 DE-16-250 08 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_16 2013 01 DE-16-250 09 p (DE-627)1484119673 Opladen, Thomas 2013 01 DE-16-250 09 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_17 2013 01 DE-16-250 10 p (DE-627)1436198674 Hoffmann, Georg F. 2013 01 DE-16-250 10 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_23 |
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10.1002/jimd.12416 doi (DE-627)1855014254 (DE-599)KXP1855014254 (OCoLC)1425063175 DE-627 ger DE-627 rda eng Keller, Mareike verfasserin (DE-588)1242124411 (DE-627)1772054992 aut Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung November 2021 14 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. behavioral phenotype cognitive impairment iNTD intelligence neurotransmitter deficiencies quality of life Brennenstuhl, Heiko 1987- verfasserin (DE-588)1105686965 (DE-627)862755344 (DE-576)473681382 aut Kuseyri Hübschmann, Oya 1985- verfasserin (DE-588)1038105617 (DE-627)756673372 (DE-576)392127156 aut Manti, Filippo verfasserin (DE-588)1192824482 (DE-627)167135673X aut Julia Palacios, Natalia Alexandra verfasserin aut Friedman, Jennifer R. verfasserin (DE-588)1158639155 (DE-627)1020628928 (DE-576)504272365 aut Yıldız, Yılmaz verfasserin (DE-588)129877893X (DE-627)1854646575 aut Koht, Jeanette Aimee verfasserin aut Wong, Suet-Na verfasserin aut Zafeiriou, Dimitrios I. verfasserin aut López-Laso, Eduardo verfasserin aut Pons, Roser verfasserin aut Kulhánek, Jan verfasserin aut Jeltsch, Kathrin 1981- verfasserin (DE-588)144019353 (DE-627)656815140 (DE-576)340367520 aut Serrano-Lomelin, Jesus verfasserin aut Garbade, Sven 1971- verfasserin (DE-588)129234362 (DE-627)707186889 (DE-576)297554263 aut Opladen, Thomas 1974- verfasserin (DE-588)124489656 (DE-627)642820481 (DE-576)335321291 aut Goez, Helly verfasserin aut Burlina, Alberto verfasserin aut Cortès-Saladelafont, Elisenda verfasserin aut Fernández Ramos, Joaquín Alejandro verfasserin aut García-Cazorla, Angeles verfasserin aut Hoffmann, Georg F. 1957- verfasserin (DE-588)115652868 (DE-627)077386116 (DE-576)261230042 aut Kiat Hong, Stacey Tay verfasserin aut Honzík, Tomáš verfasserin aut Kavecan, Ivana verfasserin aut Kurian, Manju A. verfasserin aut Leuzzi, Vincenzo verfasserin aut Lücke, Thomas verfasserin aut Manzoni, Francesca verfasserin aut Mastrangelo, Mario verfasserin aut Mercimek-Andrews, Saadet verfasserin aut Mir, Pablo verfasserin aut Oppebøen, Mari verfasserin aut Pearson, Toni S. verfasserin aut Sivri, H. Serap verfasserin aut Steel, Dora verfasserin aut Stevanović, Galina verfasserin aut Fung, Cheuk-Wing verfasserin aut Enthalten in Journal of inherited metabolic disease Hoboken, NJ : Wiley, 1978 44(2021), 6 vom: Nov., Seite 1489-1502 Online-Ressource (DE-627)320457753 (DE-600)2006875-X (DE-576)105704652 1573-2665 nnns volume:44 year:2021 number:6 month:11 pages:1489-1502 extent:14 https://doi.org/10.1002/jimd.12416 Resolving-System Verlag kostenfrei Volltext https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 Verlag kostenfrei Volltext GBV_USEFLAG_U GBV_ILN_2011 ISIL_DE-16 SYSFLAG_1 GBV_KXP GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_266 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 GBV_ILN_2013 GBV_ILN_2403 GBV_ILN_2013 ISIL_DE-16-250 GBV_ILN_2403 ISIL_DE-LFER AR 44 2021 6 11 1489-1502 14 2011 01 DE-16 4367079287 00 --%%-- --%%-- --%%-- --%%-- l01 17-08-23 2013 01 DE-16-250 4364175730 00 --%%-- --%%-- --%%-- --%%-- l01 09-08-23 2403 01 DE-LFER 4374551824 00 --%%-- --%%-- n --%%-- l01 12-09-23 2403 01 DE-LFER https://doi.org/10.1002/jimd.12416 2403 01 DE-LFER https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 2013 01 DE-16-250 00 s hd2021 2013 01 DE-16-250 01 s (DE-627)1410508463 wissenschaftlicher Artikel (Zeitschrift) 2013 01 DE-16-250 02 s per_39 2013 01 DE-16-250 03 s s_14 2013 01 DE-16-250 04 p (DE-627)1772055239 Keller, Mareike 2013 01 DE-16-250 04 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 04 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 04 s pos_1 2013 01 DE-16-250 05 p (DE-627)1677253622 Brennenstuhl, Heiko 2013 01 DE-16-250 05 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 05 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 05 s pos_2 2013 01 DE-16-250 06 p (DE-627)149386369X Kuseyri Hübschmann, Oya 2013 01 DE-16-250 06 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 06 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 06 s pos_3 2013 01 DE-16-250 07 p (DE-627)1497344778 Jeltsch, Kathrin 2013 01 DE-16-250 07 k (DE-627)1416822720 Extern 2013 01 DE-16-250 07 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 07 s pos_14 2013 01 DE-16-250 08 p (DE-627)1529261783 Garbade, Sven 2013 01 DE-16-250 08 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 08 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 08 s pos_16 2013 01 DE-16-250 09 p (DE-627)1484119673 Opladen, Thomas 2013 01 DE-16-250 09 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 09 k (DE-627)1416466967 Medizinische Fakultät Heidelberg 2013 01 DE-16-250 09 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 09 s pos_17 2013 01 DE-16-250 10 p (DE-627)1436198674 Hoffmann, Georg F. 2013 01 DE-16-250 10 k (DE-627)1416740988 Zentrum für Kinder- und Jugendmedizin 2013 01 DE-16-250 10 s (DE-627)1410501914 Verfasser 2013 01 DE-16-250 10 s pos_23 |
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Enthalten in Journal of inherited metabolic disease 44(2021), 6 vom: Nov., Seite 1489-1502 volume:44 year:2021 number:6 month:11 pages:1489-1502 extent:14 |
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Keller, Mareike @@aut@@ Brennenstuhl, Heiko @@aut@@ Kuseyri Hübschmann, Oya @@aut@@ Manti, Filippo @@aut@@ Julia Palacios, Natalia Alexandra @@aut@@ Friedman, Jennifer R. @@aut@@ Yıldız, Yılmaz @@aut@@ Koht, Jeanette Aimee @@aut@@ Wong, Suet-Na @@aut@@ Zafeiriou, Dimitrios I. @@aut@@ López-Laso, Eduardo @@aut@@ Pons, Roser @@aut@@ Kulhánek, Jan @@aut@@ Jeltsch, Kathrin @@aut@@ Serrano-Lomelin, Jesus @@aut@@ Garbade, Sven @@aut@@ Opladen, Thomas @@aut@@ Goez, Helly @@aut@@ Burlina, Alberto @@aut@@ Cortès-Saladelafont, Elisenda @@aut@@ Fernández Ramos, Joaquín Alejandro @@aut@@ García-Cazorla, Angeles @@aut@@ Hoffmann, Georg F. @@aut@@ Kiat Hong, Stacey Tay @@aut@@ Honzík, Tomáš @@aut@@ Kavecan, Ivana @@aut@@ Kurian, Manju A. @@aut@@ Leuzzi, Vincenzo @@aut@@ Lücke, Thomas @@aut@@ Manzoni, Francesca @@aut@@ Mastrangelo, Mario @@aut@@ Mercimek-Andrews, Saadet @@aut@@ Mir, Pablo @@aut@@ Oppebøen, Mari @@aut@@ Pearson, Toni S. @@aut@@ Sivri, H. Serap @@aut@@ Steel, Dora @@aut@@ Stevanović, Galina @@aut@@ Fung, Cheuk-Wing @@aut@@ |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a2200265 4500</leader><controlfield tag="001">1855014254</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20240306115732.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230809s2021 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1002/jimd.12416</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)1855014254</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-599)KXP1855014254</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(OCoLC)1425063175</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Keller, Mareike</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(DE-588)1242124411</subfield><subfield code="0">(DE-627)1772054992</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders</subfield><subfield code="b">Data from the iNTD registry</subfield><subfield code="c">Mareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Filippo Manti, Natalia Alexandra Julia Palacios, Jennifer Friedman, Yılmaz Yıldız, Jeanette Aimee Koht, Suet-Na Wong, Dimitrios I. Zafeiriou, Eduardo López-Laso, Roser Pons, Jan Kulhánek, Kathrin Jeltsch, Jesus Serrano-Lomelin, Sven F. Garbade, Thomas Opladen, Helly Goez, International Working Group on Neurotransmitter related Disorders (iNTD), Alberto Burlina, Elisenda Cortès-Saladelafont, Joaquín Alejandro Fernández Ramos, Angeles García-Cazorla, Georg F. Hoffmann, Stacey Tay Kiat Hong, Tomáš Honzík, Ivana Kavecan, Manju A. Kurian, Vincenzo Leuzzi, Thomas Lücke, Francesca Manzoni, Mario Mastrangelo, Saadet Mercimek-Andrews, Pablo Mir, Mari Oppebøen, Toni S. Pearson, H. Serap Sivri, Dora Steel, Galina Stevanović, Cheuk-Wing Fung</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">November 2021</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">14</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Online veröffentlicht: 9. Juli 2021</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">Gesehen am 09.08.2023</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. 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assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disordersdata from the intd registry |
| title_auth |
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders Data from the iNTD registry |
| abstract |
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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 |
| abstractGer |
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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 |
| abstract_unstemmed |
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 BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits. Online veröffentlicht: 9. Juli 2021 Gesehen am 09.08.2023 |
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| title_short |
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders |
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https://doi.org/10.1002/jimd.12416 https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12416 |
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Keller, Mareike Marta Keller, Mareike Brennenstuhl, H. Brennenstuhl, Heiko Hübschmann, Oya Kuseyri Kuseyri, Oya Kuseyri Hübschmann, Oya Manti, Filippo Friedman, Jennifer Friedman, Jennifer R. Yıldız, Yılmaz Jeltsch, Kathrin Sonja Jeltsch, Kathrin Garbade, S. F. Garbade, Sven Friedrich Garbade, Sven F. Garbade, Sven Opladen, Thomas Hoffmann, G. F. Hoffmann, Georg-Friedrich Hoffmann, Georg Hoffmann, Georg Friedrich Hoffmann, Georg F. |
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Keller, Mareike Marta Keller, Mareike Brennenstuhl, H. Brennenstuhl, Heiko Hübschmann, Oya Kuseyri Kuseyri, Oya Kuseyri Hübschmann, Oya Manti, Filippo Friedman, Jennifer Friedman, Jennifer R. Yıldız, Yılmaz Jeltsch, Kathrin Sonja Jeltsch, Kathrin Garbade, S. F. Garbade, Sven Friedrich Garbade, Sven F. Garbade, Sven Opladen, Thomas Hoffmann, G. F. Hoffmann, Georg-Friedrich Hoffmann, Georg Hoffmann, Georg Friedrich Hoffmann, Georg F. |
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