Radiological and Genetic Evaluation in Hypotonic Infants

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dc.contributor.authorGur, Selen
dc.contributor.authorGurbuz, Gurkan
dc.contributor.authorTozkir, Hilmi
dc.date.accessioned2024-10-29T17:59:06Z
dc.date.available2024-10-29T17:59:06Z
dc.date.issued2023
dc.departmentTekirdağ Namık Kemal Üniversitesi
dc.description.abstractObjective: To investigate the importance and diagnostic yield of genetic and radiological evaluations in children with hypotonia. Study Design: Comparative observational study.Place and Duration of the Study: Department of Pediatrics Neurology, Namik Kemal University, Tekirdag, Turkey, between 2019 and 2022. Methodology: Patients' medical histories, laboratory results, radiological examinations, and genetic tests, if any, were obtained retro-spectively from the patients' clinic files. Children with hypotonia detected since the infantile period and who were on regular follow-up were included in the study. Patients who lost the follow-up were excluded.Results: Out of one hundred and seventy patients, 61.8% (n=105) were boys and 38.2% (n=65) were girls. The admission age of the patients ranged from 1 to 121 months; the mean age at presentation was 13.52 +/- 17.35 months. Hypotonia was central in 85.3% (n=145), peripheral in 12.4% (n=21), and mixed in 2.3% (n=4). Cerebral palsy was the predominant, non-genetic clinical cause of hypo-tonia (n=66, 39%). Brain magnetic resonance imaging (MRI) was normal in 48.2% (n=82). The most common MRI abnormality was periventricular leukomalacia in 15.9% (n=27). Sixty-five (38.2%) patients were diagnosed genetically. More than half of the patients with a genetic diagnosis were diagnosed by whole exome sequencing (WES). Conclusion: Brain MRI is the first choice for the patients with central hypotonia. Patients who cannot be diagnosed with clinical findings and brain MRI should undergo WES. This is helpful for the long-term prognosis and management.
dc.identifier.doi10.29271/jcpsp.2023.09.1028
dc.identifier.endpage1034
dc.identifier.issn1022-386X
dc.identifier.issn1681-7168
dc.identifier.issue9en_US
dc.identifier.pmid37691366
dc.identifier.scopus2-s2.0-85170429200
dc.identifier.scopusqualityQ3
dc.identifier.startpage1028
dc.identifier.urihttps://doi.org/10.29271/jcpsp.2023.09.1028
dc.identifier.urihttps://hdl.handle.net/20.500.11776/14626
dc.identifier.volume33
dc.identifier.wosWOS:001128240600024
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherColl Physicians & Surgeons Pakistan
dc.relation.ispartofJcpsp-Journal of The College of Physicians and Surgeons Pakistan
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectHypotonia
dc.subjectWhole exome sequencing
dc.subjectMagnetic resonance
dc.subjectSpinal muscular atrophy
dc.subjectCerebral palsy
dc.titleRadiological and Genetic Evaluation in Hypotonic Infants
dc.typeArticle

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