title: Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
abstract: OBJECTIVE
  To describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function.
  
  
  METHODS
  All available brain MRIs done for clinical indications on individuals enrolled in a DG natural history study (NCT00313677) were reviewed. Reports were reviewed when MRI was not available. MRIs were categorized as follows: (1) cortical, brainstem, and cerebellar malformations; (2) cortical and cerebellar malformations; or (3) normal. Language development was assigned to 1 of 3 categories by a speech pathologist. Maximal motor function and presence of epilepsy were determined by history or examination.
  
  
  RESULTS
  Twenty-five MRIs and 9 reports were reviewed. The most common MRI abnormalities were cobblestone cortex or dysgyria with an anterior-posterior gradient and cerebellar hypoplasia. Seven individuals had MRIs in group 1, 8 in group 2, and 19 in group 3. Language was impaired in 100% of those in MRI groups 1 and 2, and degree of language impairment correlated with severity of imaging. Eighty-five percent of the whole group achieved independent walking, but only 33% did in group 1. Epilepsy was present in 8% of the cohort and rose to 37% of those with an abnormal MRI.
  
  
  CONCLUSIONS
  Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, and brainstem bowing are hallmarks of DG and should prompt consideration of these diagnoses. Brain imaging in individuals with DG helps to predict outcomes, especially language development, aiding clinicians in prognostic counseling.
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: Brianna N
authors.initials: BN
authors.lastname: Brun
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: Shelley R H
authors.initials: SR
authors.lastname: Mockler
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: Katie M
authors.initials: KM
authors.lastname: Laubscher
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: Carrie M
authors.initials: CM
authors.lastname: Stephan
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Wallace
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: Julia A
authors.initials: JA
authors.lastname: Collison
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: M Bridget
authors.initials: MB
authors.lastname: Zimmerman
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.affiliation: From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA. katherine-mathews@uiowa.edu.
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
mesh_terms: D000293:Adolescent; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000000981:diagnostic imaging / Q000503:physiopathology / Q000523:psychology; D005260:Female; D006801:Humans; D007223:Infant; D007802:Language; D007805:Language Development Disorders / Q000000981:diagnostic imaging / Q000503:physiopathology; D007807:Language Tests; D008279:Magnetic Resonance Imaging; D008297:Male; D009043:Motor Activity; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging* / Q000503:physiopathology* / Q000523:psychology; D012189:Retrospective Studies