title: General movements in genetic disorders: A first look into Cornelia de Lange syndrome.
abstract: The assessment of General Movements (GMs), i.e. age-specific motor patterns during the first months of life, has repeatedly proven to be a valuable tool to predict neurodevelopmental outcomes. Abnormal spontaneous GMs were found to be among the most reliable markers for cerebral palsy. To add to the knowledge of the abnormal early motor repertoire we analysed prospectively collected video recordings of a boy clinically diagnosed with Cornelia de Lange syndrome. The observed atypical GMs are a further step to disentangle early motor peculiarities in the light of the genetic impact on the developing brain.
authors.affiliation: Research Unit iDN - Interdisciplinary Developmental Neuroscience, Center for Physiological Medicine, Institute of Physiology, Medical University of Graz , Graz , Austria .
authors.forename: Peter B
authors.initials: PB
authors.lastname: Marschik
authors.forename: Marina
authors.initials: M
authors.lastname: Soloveichick
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
authors.forename: Christa
authors.initials: C
authors.lastname: Einspieler
mesh_terms: D003635:De Lange Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D009068:Movement
keywords: General movements; motor development; spontaneous movements; video analysis