title: Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A.
abstract: OBJECTIVE
  To investigate differences in nerve cross-sectional area (CSA) as measured by peripheral nerve ultrasound in children with Charcot-Marie-Tooth disease type 1A (CMT1A) compared to healthy controls.
  
  
  METHODS
  This was a cross-sectional, matched, case-control study. CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with CMT1A and controls at each nerve site was determined. The relationship between nerve CSA and age/body metrics, and between nerve CSA and neurologic disability in CMT1A, was also evaluated.
  
  
  RESULTS
  Twenty-nine children with CMT1A and 29 age- and sex-matched controls were enrolled. Nerve CSA was significantly increased in children with CMT1A compared to controls (1.9- to 3.5-fold increase, p < 0.001). The increase in nerve CSA with age was disproportionately greater in those with CMT1A. Nerve CSA showed a strong positive linear correlation with age, height, and weight in both the CMT1A and control groups. Disease severity correlated with both nerve CSA and age.
  
  
  CONCLUSIONS
  Children with CMT1A have significantly increased nerve CSA compared to controls, and the increase in nerve CSA with age is disproportionately greater in CMT1A, suggesting ongoing nerve hypertrophy throughout childhood. Nerve CSA correlates with neurologic disability. These findings demonstrate the utility of peripheral nerve ultrasound as a diagnostic tool in pediatric neuropathies, and as an outcome measure in natural history studies and clinical trials in CMT1A.
  
  
  METHODS
  This study provides Class IV evidence that measurement of nerve CSA by peripheral nerve ultrasound accurately identifies patients with CMT1A.
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia. eppie.yiu@rch.org.au.
authors.forename: Eppie M
authors.initials: EM
authors.lastname: Yiu
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Cain R
authors.initials: CR
authors.lastname: Brockley
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Katherine J
authors.initials: KJ
authors.lastname: Lee
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Kate
authors.initials: K
authors.lastname: Carroll
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Katy
authors.initials: K
authors.lastname: de Valle
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Rachel
authors.initials: R
authors.lastname: Kennedy
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Padma
authors.initials: P
authors.lastname: Rao
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
authors.affiliation: From the Bruce Lefroy Centre for Genetic Health Research (E.M.Y., M.B.D.), Neurosciences Research (E.M.Y., K.C., K.d.V., R.K., M.M.R.), and Clinical Epidemiology and Biostatistics Unit (K.J.L.), Murdoch Childrens Research Institute; the Departments of Neurology (E.M.Y., K.C., K.d.V., R.K., M.M.R.) and Medical Imaging (C.R.B., P.R.), Royal Children's Hospital, Melbourne; the Department of Paediatrics (E.M.Y., K.J.L., P.R., M.B.D., M.M.R.), The University of Melbourne; and the Department of Clinical Genetics (M.B.D.), Austin Health, Heidelberg, Australia.
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
mesh_terms: D000293:Adolescent; D000367:Age Factors; D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D006233:Persons with Disabilities; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000000981:diagnostic imaging; D008297:Male; D008475:Median Nerve / Q000000981:diagnostic imaging / Q000473:pathology; D015588:Observer Variation; D010525:Peripheral Nerves / Q000000981:diagnostic imaging* / Q000473:pathology*; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D012720:Severity of Illness Index; D013497:Sural Nerve / Q000000981:diagnostic imaging / Q000473:pathology; D013979:Tibial Nerve / Q000000981:diagnostic imaging / Q000473:pathology; D014459:Ulnar Nerve / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography