Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study
Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a...
Ausführliche Beschreibung
Autor*in: |
Mohammed H. AlBanji [verfasserIn] Abdulaziz N. AlSaad [verfasserIn] Riyam F. AlAnazi [verfasserIn] Zahra A. Aleisa [verfasserIn] Dalya S. Alam [verfasserIn] Aqeela H. Alhashim [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2020 |
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Übergeordnetes Werk: |
In: Molecular Genetics and Metabolism Reports - Elsevier, 2015, 25(2020), Seite 100665- |
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Übergeordnetes Werk: |
volume:25 ; year:2020 ; pages:100665- |
Links: |
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DOI / URN: |
10.1016/j.ymgmr.2020.100665 |
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Katalog-ID: |
DOAJ016842251 |
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520 | |a Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. | ||
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10.1016/j.ymgmr.2020.100665 doi (DE-627)DOAJ016842251 (DE-599)DOAJ4655b5a7ad4e493d95c322ddf08e199e DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Mohammed H. AlBanji verfasserin aut Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. Central hypotonia Peripheral hypotonia Mixed hypotonia Whole exome sequencing MRI brain Molecular genetics Medicine (General) Biology (General) Abdulaziz N. AlSaad verfasserin aut Riyam F. AlAnazi verfasserin aut Zahra A. Aleisa verfasserin aut Dalya S. Alam verfasserin aut Aqeela H. Alhashim verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 25(2020), Seite 100665- (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:25 year:2020 pages:100665- https://doi.org/10.1016/j.ymgmr.2020.100665 kostenfrei https://doaj.org/article/4655b5a7ad4e493d95c322ddf08e199e kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426920301117 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 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_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 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_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 25 2020 100665- |
spelling |
10.1016/j.ymgmr.2020.100665 doi (DE-627)DOAJ016842251 (DE-599)DOAJ4655b5a7ad4e493d95c322ddf08e199e DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Mohammed H. AlBanji verfasserin aut Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. Central hypotonia Peripheral hypotonia Mixed hypotonia Whole exome sequencing MRI brain Molecular genetics Medicine (General) Biology (General) Abdulaziz N. AlSaad verfasserin aut Riyam F. AlAnazi verfasserin aut Zahra A. Aleisa verfasserin aut Dalya S. Alam verfasserin aut Aqeela H. Alhashim verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 25(2020), Seite 100665- (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:25 year:2020 pages:100665- https://doi.org/10.1016/j.ymgmr.2020.100665 kostenfrei https://doaj.org/article/4655b5a7ad4e493d95c322ddf08e199e kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426920301117 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 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_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 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_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 25 2020 100665- |
allfields_unstemmed |
10.1016/j.ymgmr.2020.100665 doi (DE-627)DOAJ016842251 (DE-599)DOAJ4655b5a7ad4e493d95c322ddf08e199e DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Mohammed H. AlBanji verfasserin aut Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. Central hypotonia Peripheral hypotonia Mixed hypotonia Whole exome sequencing MRI brain Molecular genetics Medicine (General) Biology (General) Abdulaziz N. AlSaad verfasserin aut Riyam F. AlAnazi verfasserin aut Zahra A. Aleisa verfasserin aut Dalya S. Alam verfasserin aut Aqeela H. Alhashim verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 25(2020), Seite 100665- (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:25 year:2020 pages:100665- https://doi.org/10.1016/j.ymgmr.2020.100665 kostenfrei https://doaj.org/article/4655b5a7ad4e493d95c322ddf08e199e kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426920301117 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 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_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 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_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 25 2020 100665- |
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10.1016/j.ymgmr.2020.100665 doi (DE-627)DOAJ016842251 (DE-599)DOAJ4655b5a7ad4e493d95c322ddf08e199e DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Mohammed H. AlBanji verfasserin aut Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. Central hypotonia Peripheral hypotonia Mixed hypotonia Whole exome sequencing MRI brain Molecular genetics Medicine (General) Biology (General) Abdulaziz N. AlSaad verfasserin aut Riyam F. AlAnazi verfasserin aut Zahra A. Aleisa verfasserin aut Dalya S. Alam verfasserin aut Aqeela H. Alhashim verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 25(2020), Seite 100665- (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:25 year:2020 pages:100665- https://doi.org/10.1016/j.ymgmr.2020.100665 kostenfrei https://doaj.org/article/4655b5a7ad4e493d95c322ddf08e199e kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426920301117 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 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_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 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_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 25 2020 100665- |
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10.1016/j.ymgmr.2020.100665 doi (DE-627)DOAJ016842251 (DE-599)DOAJ4655b5a7ad4e493d95c322ddf08e199e DE-627 ger DE-627 rakwb eng R5-920 QH301-705.5 Mohammed H. AlBanji verfasserin aut Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study 2020 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. Central hypotonia Peripheral hypotonia Mixed hypotonia Whole exome sequencing MRI brain Molecular genetics Medicine (General) Biology (General) Abdulaziz N. AlSaad verfasserin aut Riyam F. AlAnazi verfasserin aut Zahra A. Aleisa verfasserin aut Dalya S. Alam verfasserin aut Aqeela H. Alhashim verfasserin aut In Molecular Genetics and Metabolism Reports Elsevier, 2015 25(2020), Seite 100665- (DE-627)826105033 (DE-600)2821908-9 22144269 nnns volume:25 year:2020 pages:100665- https://doi.org/10.1016/j.ymgmr.2020.100665 kostenfrei https://doaj.org/article/4655b5a7ad4e493d95c322ddf08e199e kostenfrei http://www.sciencedirect.com/science/article/pii/S2214426920301117 kostenfrei https://doaj.org/toc/2214-4269 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 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_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 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_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 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_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 AR 25 2020 100665- |
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Mohammed H. AlBanji |
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Mohammed H. AlBanji misc R5-920 misc QH301-705.5 misc Central hypotonia misc Peripheral hypotonia misc Mixed hypotonia misc Whole exome sequencing misc MRI brain misc Molecular genetics misc Medicine (General) misc Biology (General) Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study |
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R5-920 QH301-705.5 Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study Central hypotonia Peripheral hypotonia Mixed hypotonia Whole exome sequencing MRI brain Molecular genetics |
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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study |
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Mohammed H. AlBanji |
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Mohammed H. AlBanji Abdulaziz N. AlSaad Riyam F. AlAnazi Zahra A. Aleisa Dalya S. Alam Aqeela H. Alhashim |
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utility of hypotonia diagnostic investigations: a 12-year single center study |
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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study |
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Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. |
abstractGer |
Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. |
abstract_unstemmed |
Introduction: Hypotonia is a common presentation that child neurologists encounter daily. The hypotonic neonate represents a diagnostic challenge as a lesion at any level in the neuro-axis may cause hypotonia. In this paper, we study the diagnostic yield of investigations commonly used as part of a hypotonia work-up. Methods: A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, laboratory tests, imaging and genetic studies were reviewed from the patient's electronic health records. Results: 164 patients were identified as fitting the inclusion criteria of the study. 50% had central hypotonia, 18% peripheral hypotonia and 32% mixed hypotonia. Molecular testing was performed for 82% (74) of patients. 65 Microarray studies were done; 27% abnormal and 9% diagnostic. 55 gene panels were done; 58% abnormal and 30% diagnostic. 53 single-gene tests were done; 57% abnormal and 40% diagnostic. 61 whole exome sequences were done; 72% positive and 59% diagnostic. 126 MRIs were reviewed; 56% abnormal and 33% contributed to the diagnosis. Conclusion: Molecular genetic testing is our recommended next step in the diagnosis of patients with hypotonia after careful phenotyping. Neuroimaging is helpful to guide further costly workup of patients with hypotonia. |
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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study |
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