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Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2016
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Title
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study
Published in
Orphanet Journal of Rare Diseases, July 2016
DOI 10.1186/s13023-016-0486-z
Pubmed ID
Authors

Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P. Toelle, Eugen Boltshauser, Knut Brockmann

Abstract

The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA. Ocular motor apraxia (OMA) was recognized during the first year of life and confined to horizontal pursuit in all patients. OMA attenuated over the years in most cases, regressed completely in two siblings, and persisted unimproved in one individual. Accompanying clinical features included early onset ataxia in most patients and cognitive impairment with learning disability (n = 6) or intellectual disability (n = 4). Re-evaluation of MRI data sets revealed a hitherto unrecognized molar tooth sign diagnostic for Joubert syndrome in 11 patients, neuroimaging features of Poretti-Boltshauser syndrome in one case and cerebral malformation suspicious of a tubulinopathy in another subject. In the remainder, MRI showed vermian hypo-/dysplasia in 4 and no abnormalities in another 4 patients. There was a strong trend to more severe cognitive impairment in patients with Joubert syndrome compared to those with inconclusive MRI, but otherwise no significant difference in clinical phenotypes between these two groups. Systematical renewed analysis of neuroimaging data resulted in a diagnostic reappraisal in the majority of patients with early-onset OMA in the cohort reported here. This finding poses a further challenge to the notion of COMA constituting a separate entity and underlines the need for an expert assessment of neuroimaging in children with COMA, especially if they show cognitive impairment.

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Mendeley readers

The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 33 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 18%
Student > Doctoral Student 5 15%
Student > Master 5 15%
Student > Ph. D. Student 4 12%
Lecturer 2 6%
Other 8 24%
Unknown 3 9%
Readers by discipline Count As %
Medicine and Dentistry 12 36%
Psychology 4 12%
Biochemistry, Genetics and Molecular Biology 3 9%
Nursing and Health Professions 3 9%
Sports and Recreations 2 6%
Other 4 12%
Unknown 5 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 August 2016.
All research outputs
#5,903,789
of 8,155,605 outputs
Outputs from Orphanet Journal of Rare Diseases
#840
of 1,117 outputs
Outputs of similar age
#167,497
of 257,792 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#37
of 46 outputs
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