title: An assessment of optokinetic nystagmus (OKN) in persons with Down syndrome.
abstract: Down syndrome (DS), the most common genetically defined cause of intellectual disability, is the phenotypic consequence of a supernumerary chromosome 21. Persons with DS commonly display deficits in visuomotor integration, motor coordination, and balance. Despite the key roles of the optokinetic and vestibular systems in these submodalities of motor function, a systematic investigation of the optokinetic nystagmus (OKN) and vestibulo-ocular reflex (VOR) in persons with DS had lacked in the literature. Accordingly, this study generated quantitative data on oculomotor function in persons with DS under optokinetic and sinusoidal smooth pursuit stimulation. Thirty-two participants with DS (14-36 years old, equally divided by gender) and 32 chronological age- and gender-matched typically developing controls were recruited from the community. Eye movements were recorded by binocular video oculography and an LCD projector produced visual stimulation. Assessments of the gain and frequency of slow phase of OKN beats and number and mean amplitude of intruding saccades during smooth pursuit were performed. Individuals with DS displayed angular velocity-dependent reduction in OKN gain and number of produced nystagmus beats compared to controls. The gain of the smooth pursuit was not significantly different between participants with DS and control participants. However, the number and mean amplitude of intruding saccades during smooth pursuit were increased in participants with DS compared to control participants. These findings may have implications to the understanding of the neurological basis of the motor dysfunction that affects performance in many practical tasks persons with DS encounter in their everyday lives.
authors.affiliation: Division of Clinical Pharmacology and Toxicology, Department of Medicine, University of Colorado Denver School of Medicine, 12700 East 19th Avenue, Campus Box C-237, Aurora, CO 80045, USA. Alberto.Costa@ucdenver.edu
authors.forename: Alberto C S
authors.initials: AC
authors.lastname: Costa
mesh_terms: D000293:Adolescent; D000328:Adult; D004185:Disability Evaluation; D004314:Down Syndrome / Q000150:complications / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D009460:Neurologic Examination / Q000379:methods*; D017120:Nystagmus, Optokinetic / Q000502:physiology*; D015835:Ocular Motility Disorders / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology*; D010775:Photic Stimulation / Q000379:methods; D011698:Pursuit, Smooth / Q000502:physiology; D012438:Saccades / Q000502:physiology; D055815:Young Adult