Evidence map›Paper›PMID 28087826›Full record

ArticleNeurology2017

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Anne M Wallace, Julia A Collison, M Bridget Zimmerman, William B Dobyns, Katherine D Mathews

Registry-linked trialOpen access · bronzeAbstract readClinical StudyComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00313677 (Clinical Trial Readiness for the Dystroglycanopathies), which is not on this map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 27% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT00313677 recruitingnot on this map

Clinical Trial Readiness for the Dystroglycanopathies

TypeobservationalSponsorKatherine MathewsRan2006 to 2030Enrolled190ConditionsMuscular Dystrophy
3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 18 citations in OpenAlex.

  1. UDP-glucose dehydrogenase variants cause dystroglycanopathy.Annals of clinical and translational neurology · 2025
    Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Review
  7. Article
  8. Lissencephaly: Expanded imaging and clinical classification.American journal of medical genetics. Part A · 2017
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Brianna N BrunFrom 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.
Shelley R H MocklerFrom 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.
Katie M LaubscherFrom 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.
Carrie M StephanFrom 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.
Anne M WallaceFrom 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.
Julia A CollisonFrom 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.
M Bridget ZimmermanFrom 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.
William B DobynsFrom 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 D MathewsFrom 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.
University of Iowa Stead Family Children’s Hospital · USUniversity of Washington · USUniversity of Iowa · US

Funding

Therapeutic Potential of ESC-Derived Myogenic PrecursorsU54NS053672 · NINDS · UNIVERSITY OF IOWA · PI CAMPBELL, KEVIN P. · 2005 to 2019
$22.0M
Year 9 Administrative Supplement to INSPPIRE 2U01DK108334 · NIDDK · UNIVERSITY OF IOWA · PI MARK E. LOWE, Aliye Uc · 2015 to 2026
$10.5M
The Genetic Basis of Mid-Hindbrain MalformationsR01NS050375 · NINDS · UNIVERSITY OF MINNESOTA · PI DOBYNS, WILLIAM B. · 2005 to 2019
$9.9M
Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
The University of Iowa Clinical and Translational Science AwardU54TR001356 · NCATS · UNIVERSITY OF IOWA · PI WINOKUR, PATRICIA · 2015 to 2016
$7.1M
Fibromyalgia Activity Study with TENS "FAST"UM1AR063381 · NIAMS · UNIVERSITY OF IOWA · PI CROFFORD, LESLIE J, SLUKA, KATHLEEN A · 2013 to 2017
$3.4M
Family obesity intervention: Motivational Interviewing and community supportR01HL119882 · NHLBI · UNIVERSITY OF IOWA · PI LAROCHE, HELENA HILLMAN · 2014 to 2018
$3.4M
Behavioral Influences on Ovarian Cancer Progression: Role of ChemoresistanceR01CA193249 · NCI · UNIVERSITY OF IOWA · PI LUTGENDORF, SUSAN K · 2016 to 2020
$3.2M
Comparing Behavioral Assessments Using Telehealth for Children with AutismR01MH104363 · NIMH · UNIVERSITY OF IOWA · PI BERG, WENDY K, O'BRIEN, MATTHEW J · 2015 to 2018
$2.6M
Preventing Persistent Post-Surgical Pain & Opioid Use in Veterans: Effect of ACTR34AT008349 · NCCIH · UNIVERSITY OF IOWA · PI RAKEL, BARBARA · 2014 to 2015
$669k
NCATS NIH HHS U54 TR001356NCCIH NIH HHS R34 AT008349NCI NIH HHS R01 CA193249NHLBI NIH HHS R01 HL119882NIAMS NIH HHS UM1 AR063381NICHD NIH HHS U54 HD083091NIDDK NIH HHS U01 DK108334NIMH NIH HHS R01 MH104363NINDS NIH HHS R01 NS050375NINDS NIH HHS U54 NS053672
6 · The paper itself

Abstract

objectiveTo describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function.

methodsAll 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.

resultsTwenty-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.

conclusionsDevelopmental 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.

Indexed as

LanguageMagnetic Resonance ImagingMotor ActivityAdolescentBrainChildChild, PreschoolEpilepsyFemaleHumansInfantLanguage Development DisordersLanguage TestsMaleMuscular DystrophiesRetrospective Studies

Identifiers

PMID28087826
PMCPMC5317381
OpenAlexW2579079044

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.