Reliability of phenotypic early-onset ataxia assessment: a pilot study

Tjitske F. Lawerman, Rick Brandsma, Joke T. van Geffen, Roelineke J. Lunsing, Huibert Burger, Marina A. J. Tijssen, Jeroen J. de Vries, Tom J. de Koning, Deborah A. Sival*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)

Abstract

AIM To investigate the interobserver agreement on phenotypic early-onset ataxia (EOA) assessment and to explore whether the Scale for Assessment and Rating of Ataxia (SARA) could provide a supportive marker.

METHOD Seven movement disorder specialists provided independent phenotypic assessments of potentially ataxic motor behaviour in 40 patients (mean age 15y [range 5-34]; data derived from University Medical Center Groningen medical records 1998-2012). We determined interobserver agreement by Fleiss' kappa. Furthermore, we compared percentage SARA subscores ([subscore/ total score] 9100%) between 'indisputable' (primary ataxia recognition by at least six observers) and 'mixed' (ataxia recognition, unfulfilling 'indisputable' criteria) EOA phenotypes.

RESULTS Agreement on phenotypic EOA assessment was statistically significant (p 30%, primary ataxia was more frequently present than in those with subscores <30% (p=0.001).

INTERPRETATION Among movement-disorder professionals from different disciplines, interobserver agreement on phenotypic EOA recognition is of limited strength. SARA gait subscores can provide a supportive discriminative marker between EOA phenotypes. Hopefully, future phenotypic insight will contribute to the inclusion of uniform, high-quality data in international EOA databases.

Original languageEnglish
Pages (from-to)70-76
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Volume58
Issue number1
DOIs
Publication statusPublished - Jan-2016

Keywords

  • CEREBELLAR-ATAXIA
  • GOSR2 MUTATION
  • BASAL GANGLIA
  • CHILDREN
  • CLASSIFICATION
  • PREVALENCE
  • CHILDHOOD
  • DYSTONIA
  • SCALES

Cite this