Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia
Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurolo...
Ausführliche Beschreibung
Autor*in: |
Korner, Mirjam [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2019 |
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Anmerkung: |
© The Author(s). 2019 |
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Übergeordnetes Werk: |
Enthalten in: Orphanet journal of rare diseases - London : BioMed Central, 2006, 14(2019), 1 vom: 26. Feb. |
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Übergeordnetes Werk: |
volume:14 ; year:2019 ; number:1 ; day:26 ; month:02 |
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DOI / URN: |
10.1186/s13023-019-0999-3 |
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Katalog-ID: |
SPR029504953 |
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520 | |a Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. | ||
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10.1186/s13023-019-0999-3 doi (DE-627)SPR029504953 (SPR)s13023-019-0999-3-e DE-627 ger DE-627 rakwb eng Korner, Mirjam verfasserin aut Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. Classical galactosemia (dpeaa)DE-He213 CANTAB (dpeaa)DE-He213 Facial emotion recognition (dpeaa)DE-He213 Visual information processing (dpeaa)DE-He213 Neuropsychology (dpeaa)DE-He213 Executive function (dpeaa)DE-He213 Sustained attention (dpeaa)DE-He213 Kälin, Sonja aut Zweifel-Zehnder, Antoinette aut Fankhauser, Niklaus aut Nuoffer, Jean-Marc aut Gautschi, Matthias (orcid)0000-0003-1358-1759 aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 14(2019), 1 vom: 26. Feb. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:14 year:2019 number:1 day:26 month:02 https://dx.doi.org/10.1186/s13023-019-0999-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2019 1 26 02 |
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10.1186/s13023-019-0999-3 doi (DE-627)SPR029504953 (SPR)s13023-019-0999-3-e DE-627 ger DE-627 rakwb eng Korner, Mirjam verfasserin aut Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. Classical galactosemia (dpeaa)DE-He213 CANTAB (dpeaa)DE-He213 Facial emotion recognition (dpeaa)DE-He213 Visual information processing (dpeaa)DE-He213 Neuropsychology (dpeaa)DE-He213 Executive function (dpeaa)DE-He213 Sustained attention (dpeaa)DE-He213 Kälin, Sonja aut Zweifel-Zehnder, Antoinette aut Fankhauser, Niklaus aut Nuoffer, Jean-Marc aut Gautschi, Matthias (orcid)0000-0003-1358-1759 aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 14(2019), 1 vom: 26. Feb. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:14 year:2019 number:1 day:26 month:02 https://dx.doi.org/10.1186/s13023-019-0999-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2019 1 26 02 |
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10.1186/s13023-019-0999-3 doi (DE-627)SPR029504953 (SPR)s13023-019-0999-3-e DE-627 ger DE-627 rakwb eng Korner, Mirjam verfasserin aut Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. Classical galactosemia (dpeaa)DE-He213 CANTAB (dpeaa)DE-He213 Facial emotion recognition (dpeaa)DE-He213 Visual information processing (dpeaa)DE-He213 Neuropsychology (dpeaa)DE-He213 Executive function (dpeaa)DE-He213 Sustained attention (dpeaa)DE-He213 Kälin, Sonja aut Zweifel-Zehnder, Antoinette aut Fankhauser, Niklaus aut Nuoffer, Jean-Marc aut Gautschi, Matthias (orcid)0000-0003-1358-1759 aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 14(2019), 1 vom: 26. Feb. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:14 year:2019 number:1 day:26 month:02 https://dx.doi.org/10.1186/s13023-019-0999-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2019 1 26 02 |
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10.1186/s13023-019-0999-3 doi (DE-627)SPR029504953 (SPR)s13023-019-0999-3-e DE-627 ger DE-627 rakwb eng Korner, Mirjam verfasserin aut Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. Classical galactosemia (dpeaa)DE-He213 CANTAB (dpeaa)DE-He213 Facial emotion recognition (dpeaa)DE-He213 Visual information processing (dpeaa)DE-He213 Neuropsychology (dpeaa)DE-He213 Executive function (dpeaa)DE-He213 Sustained attention (dpeaa)DE-He213 Kälin, Sonja aut Zweifel-Zehnder, Antoinette aut Fankhauser, Niklaus aut Nuoffer, Jean-Marc aut Gautschi, Matthias (orcid)0000-0003-1358-1759 aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 14(2019), 1 vom: 26. Feb. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:14 year:2019 number:1 day:26 month:02 https://dx.doi.org/10.1186/s13023-019-0999-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2019 1 26 02 |
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10.1186/s13023-019-0999-3 doi (DE-627)SPR029504953 (SPR)s13023-019-0999-3-e DE-627 ger DE-627 rakwb eng Korner, Mirjam verfasserin aut Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. Classical galactosemia (dpeaa)DE-He213 CANTAB (dpeaa)DE-He213 Facial emotion recognition (dpeaa)DE-He213 Visual information processing (dpeaa)DE-He213 Neuropsychology (dpeaa)DE-He213 Executive function (dpeaa)DE-He213 Sustained attention (dpeaa)DE-He213 Kälin, Sonja aut Zweifel-Zehnder, Antoinette aut Fankhauser, Niklaus aut Nuoffer, Jean-Marc aut Gautschi, Matthias (orcid)0000-0003-1358-1759 aut Enthalten in Orphanet journal of rare diseases London : BioMed Central, 2006 14(2019), 1 vom: 26. Feb. (DE-627)50900637X (DE-600)2225857-7 1750-1172 nnns volume:14 year:2019 number:1 day:26 month:02 https://dx.doi.org/10.1186/s13023-019-0999-3 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 14 2019 1 26 02 |
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Korner, Mirjam |
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Korner, Mirjam misc Classical galactosemia misc CANTAB misc Facial emotion recognition misc Visual information processing misc Neuropsychology misc Executive function misc Sustained attention Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia |
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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia Classical galactosemia (dpeaa)DE-He213 CANTAB (dpeaa)DE-He213 Facial emotion recognition (dpeaa)DE-He213 Visual information processing (dpeaa)DE-He213 Neuropsychology (dpeaa)DE-He213 Executive function (dpeaa)DE-He213 Sustained attention (dpeaa)DE-He213 |
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deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia |
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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia |
abstract |
Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. © The Author(s). 2019 |
abstractGer |
Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. © The Author(s). 2019 |
abstract_unstemmed |
Background Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet fails to prevent long-term complications, including cognitive impairment, neurological and psychiatric problems, osteoporosis, premature ovarian failure and infertility. Detailed neuropsychological phenotyping is needed in order to better understand the relevant neurodevelopmental deficiencies and to develop effective treatment strategies. Aim To define specifically and significantly impaired neuropsychological traits in adult CG patients of the Swiss cohort. Methods Prospective cohort study. 22 CG patients, with confirmed genotype and low GALT activity, and 15 controls completed a computer-based neuropsychological test battery (CANTAB). Additionally, broad IQ evaluation was made for the CG patients. Results In most outcome measures of the CANTAB tasks, CG patients performed significantly worse than controls. The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. The deficits in facial emotion recognition have not been described before and could help explain difficulties in social interactions often experienced by patients with CG. © The Author(s). 2019 |
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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia |
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Kälin, Sonja Zweifel-Zehnder, Antoinette Fankhauser, Niklaus Nuoffer, Jean-Marc Gautschi, Matthias |
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The deficits in CG patients were most prominent in tasks that involve rapid visual information processing and facial emotion recognition. Conclusion CG patients have specific cognitive problems such as impaired visual information processing and facial emotion recognition. 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