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

doi:10.1212/WNL.0000000000003609

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

Journal article

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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 and Katherine D Mathews

Neurology, Vol.88(7), pp.623-629

02/14/2017

DOI: 10.1212/WNL.0000000000003609

PMCID: PMC5317381

PMID: 28087826

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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.

Details

Title: Subtitle: Comparison of brain MRI findings with language and motor function in the dystroglycanopathies
Creators: 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
Resource Type: Journal article
Publication Details: Neurology, Vol.88(7), pp.623-629
DOI: 10.1212/WNL.0000000000003609
PMID: 28087826
PMCID: PMC5317381
NLM abbreviation: Neurology
ISSN: 0028-3878
eISSN: 1526-632X
Language: English
Date published: 02/14/2017
Academic Unit: Neurology; Communication Sciences and Disorders; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Biostatistics; Physical Therapy and Rehabilitation Science; Neurology (Pediatrics)
Record Identifier: 9983997366202771

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