%0 Journal Article
%T Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
%A AlBanji MH
%A AlSaad AN
%A AlAnazi RF
%A Aleisa ZA
%A Alam DS
%A Alhashim AH
%J Mol Genet Metab Rep
%V 25
%N 0
%D Dec 2020
%M 33101984
%F 2.082
%R 10.1016/j.ymgmr.2020.100665
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.