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

Sarah WenteSimone SchröderJohannes BuckardHans-Martin BüttelFlorian von DeimlingWilfried DienerMartin HäusslerSusanne HübschleSilvia KinderGerhard KurlemannChristoph KretzschmarMichael LingenWiebke MaroskeDirk MundtIciar Sánchez-AlbisuaJürgen SeegerSandra P ToelleEugen BoltshauserKnut Brockmann

Published in: Orphanet journal of rare diseases (2016)

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.

Keyphrases

early onset
cognitive impairment
late onset
young adults
electronic health record
big data
clinical practice
machine learning