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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