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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

ABSTRACT: 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.

SUBMITTER: AlBanji MH

PROVIDER: S-EPMC7578558 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

AlBanji Mohammed H MH AlSaad Abdulaziz N AN AlAnazi Riyam F RF Aleisa Zahra A ZA Alam Dalya S DS Alhashim Aqeela H AH

Molecular genetics and metabolism reports 20201021

<h4>Introduction</h4>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.<h4>Methods</h4>A 12-year retrospective cohort study was conducted at a tertiary care center in Saudi Arabia from 2007 to 2018. Final diagnoses, clinical presentations, labora ...[more]

PMID: 33101984

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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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