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An assessment of optokinetic nystagmus (OKN) in persons with down syndrome

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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.

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References

  • Agiovlasitis S, McCubbin JA, Yun J, Mpitsos G, Pavol MJ (2009) Effects of Down syndrome on three-dimensional motion during walking at different speeds. Gait Posture 30:345–350

    Article  PubMed  Google Scholar 

  • Almeida GL, Corcos DM, Hasan Z (2000) Horizontal-plane arm movements with direction reversals performed by normal individuals and individuals with down syndrome. J Neurophysiol 84:1949–1960

    PubMed  CAS  Google Scholar 

  • Aruin AS, Almeida GL, Latash ML (1996) Organization of a simple two-joint synergy in individuals with Down syndrome. Am J Ment Retard 101:256–268

    PubMed  CAS  Google Scholar 

  • Averbuch-Heller L, Dell’Osso LF, Jacobs JB, Remler BF (1999) Latent and congenital nystagmus in Down syndrome. J Neuroophthalmol 19:166–172

    Article  PubMed  CAS  Google Scholar 

  • Baxter LL, Moran TH, Richtsmeier JT, Troncoso J, Reeves RH (2000) Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse. Hum Mol Genet 9:195–202

    Article  PubMed  CAS  Google Scholar 

  • Bedell HE, Yap YL, Flom MC (1990) Fixational drift and nasal-temporal pursuit asymmetries in strabismic amblyopes. Invest Ophthalmol Vis Sci 31:968–976

    PubMed  CAS  Google Scholar 

  • Bense S, Janusch B, Vucurevic G, Bauermann T, Schlindwein P, Brandt T, Stoeter P, Dieterich M (2006) Brainstem and cerebellar fMRI-activation during horizontal and vertical optokinetic stimulation. Exp Brain Res 174:312–323

    Article  PubMed  Google Scholar 

  • Bodensteiner JB, Smith SD, Schaefer GB (2003) Hypotonia, congenital hearing loss, and hypoactive labyrinths. J Child Neurol 18:171–173

    Article  PubMed  Google Scholar 

  • Bucci MP, Kapoula Z, Yang Q, Roussat B, Bremond-Gignac D (2002) Binocular coordination of saccades in children with strabismus before and after surgery. Invest Ophthalmol Vis Sci 43:1040–1047

    PubMed  Google Scholar 

  • Carvalho RL, Almeida GL (2009) Assessment of postural adjustments in persons with intellectual disability during balance on the seesaw. J Intellect Disabil Res 53:389–395

    Article  PubMed  CAS  Google Scholar 

  • Cheng M, Outerbridge JS (1975) Optokinetic nystagmus during selective retinal stimulation. Exp Brain Res 23:129–139

    Article  PubMed  CAS  Google Scholar 

  • Chicoine B, McGuire D, Rubin S (1998) Adults with Down syndrome: specialty clinic perspectives. In: Janicki MP, Dalton AJ (eds) Dementia, aging, and intellectual disabilities: a handbook. Brunner/Mazel, New York, pp 278–293

    Google Scholar 

  • Collewijn H, Martins AJ, Steinman RM (1983) Compensatory eye movements during active and passive eye movements; fast adaptation to changes in visual magnification. J Physiol 340:259–286

    PubMed  CAS  Google Scholar 

  • Cregg M, Woodhouse JM, Stewart RE, Pakeman VH, Bromham NR, Gunter HL, Trojanowska L, Parker M, Fraser WI (2003) Development of refractive error and strabismus in children with Down syndrome. Invest Ophthalmol Vis Sci 44:1023–1030

    Article  PubMed  Google Scholar 

  • da Cunha RP, Moreira JB (1996) Ocular findings in Down’s syndrome. Am J Ophthalmol 122:236–244

    PubMed  CAS  Google Scholar 

  • Davous P, Lamour Y, Roudier M (1989) Standardized neurologic study in senile dementia of Alzheimer’s type. Encephale 15:387–396

    PubMed  CAS  Google Scholar 

  • Dieterich M, Bucher SF, Seelos KC, Brandt T (2000) Cerebellar activation during optokinetic stimulation and saccades. Neurology 54:148–155

    PubMed  CAS  Google Scholar 

  • Gomes MM, Barela JA (2007) Postural control in down syndrome: the use of somatosensory and visual information to attenuate body sway. Mot Control 11:224–234

    Google Scholar 

  • Hiles DA, Hoyme SH, McFarlane F (1974) Down’s syndrome and strabismus. Am Orthopt J 24:63–68

    PubMed  CAS  Google Scholar 

  • Jaeger EA (1980) Ocular findings in Down’s syndrome. Trans Am Ophthalmol Soc 78:808–845

    PubMed  CAS  Google Scholar 

  • Knapp CM, Gottlob I, McLean RJ, Proudlock FA (2008) Horizontal and vertical look and stare optokinetic nystagmus symmetry in healthy adult volunteers. Invest Ophthalmol Vis Sci 49:581–588

    Article  PubMed  Google Scholar 

  • Koo BK, Blaser S, Harwood-Nash D, Becker LE, Murphy EG (1992) Magnetic resonance imaging evaluation of delayed myelination in Down syndrome: a case report and review of the literature. J Child Neurol 7:417–421

    Article  PubMed  CAS  Google Scholar 

  • Lam MY, Hodges NJ, Virji-Babul N, Latash ML (2009) Evidence for slowing as a function of index of difficulty in young adults with Down syndrome. Am J Intellect Dev Disabil 114:411–426

    Article  PubMed  Google Scholar 

  • Latash ML, Anson JG (2006) Synergies in health and disease: relations to adaptive changes in motor coordination. Phys Ther 86:1151–1160

    PubMed  Google Scholar 

  • Leverenz JB, Raskind MA (1998) Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: a regional quantitative analysis. Exp Neurol 150:296–304

    Article  PubMed  CAS  Google Scholar 

  • Levin S, Lipton RB, Holzman PS (1981) Pursuit eye movements in psychopathology: effects of target characteristics. Biol Psychiatry 16:255–267

    PubMed  CAS  Google Scholar 

  • Mann DM, Jones D, Prinja D, Purkiss MS (1990) The prevalence of amyloid (A4) protein deposits within the cerebral and cerebellar cortex in Down’s syndrome and Alzheimer’s disease. Acta Neuropathol 80:318–327

    Article  PubMed  CAS  Google Scholar 

  • Molnar GE (1978) Analysis of motor disorder in retarded infants and young children. Am J Ment Defic 83:213–222

    PubMed  CAS  Google Scholar 

  • Nadel L (2003) Down’s syndrome: a genetic disorder in biobehavioral perspective. Genes Brain Behav 2:156–166

    Article  PubMed  CAS  Google Scholar 

  • Patterson D, Costa AC (2005) Down syndrome and genetics—a case of linked histories. Nat Rev Genet 6:137–147

    Article  PubMed  CAS  Google Scholar 

  • Pennington BF, Moon J, Edgin J, Stedron J, Nadel L (2003) The neuropsychology of Down syndrome: evidence for hippocampal dysfunction. Child Dev 74:75–93

    Article  PubMed  Google Scholar 

  • Post RB, Rodemer CS, Dichgans J, Leibowitz HW (1979) Dynamic orientation responses are independent of refractive error. Invest Ophthalmol Vis Sci (Suppl) 18:140

    Google Scholar 

  • Pueschel SM, Louis S, McKnight P (1991) Seizure disorders in Down syndrome. Arch Neurol 48:318–320

    Article  PubMed  CAS  Google Scholar 

  • Raz N, Torres IJ, Briggs SD, Spencer WD, Thornton AE, Loken WJ, Gunning FM, McQuain JD, Driesen NR, Acker JD (1995) Selective neuroanatomic abnormalities in Down’s syndrome and their cognitive correlates: evidence from MRI morphometry. Neurology 45:356–366

    PubMed  CAS  Google Scholar 

  • Romano C, Tine A, Fazio G, Rizzo R, Colognola RM, Sorge G, Bergonzi P, Pavone L (1990) Seizures in patients with trisomy 21. Am J Med Genet Suppl 7:298–300

    PubMed  CAS  Google Scholar 

  • Shumway-Cook A, Woollacott MH (1985) Dynamics of postural control in the child with Down syndrome. Phys Ther 65:1315–1322

    PubMed  CAS  Google Scholar 

  • Silverman W (2007) Down syndrome: cognitive phenotype. Ment Retard Dev Disabil Res Rev 13:228–236

    Article  PubMed  Google Scholar 

  • Simons B, Buttner U (1985) The influence of age on optokinetic nystagmus. Eur Arch Psychiatry Neurol Sci 234:369–373

    Article  PubMed  CAS  Google Scholar 

  • Smith BA, Kubo M, Black DP, Holt KG, Ulrich BD (2007) Effect of practice on a novel task–walking on a treadmill: preadolescents with and without Down syndrome. Phys Ther 87:766–777

    Article  PubMed  Google Scholar 

  • Smyrnis N (2008) Metric issues in the study of eye movements in psychiatry. Brain Cogn 68:341–358

    Article  PubMed  Google Scholar 

  • Tsiaras WG, Pueschel S, Keller C, Curran R, Giesswein S (1999) Amblyopia and visual acuity in children with Down’s syndrome. Br J Ophthalmol 83:1112–1114

    Article  PubMed  CAS  Google Scholar 

  • Valmaggia C, Proudlock F, Gottlob I (2003) Optokinetic nystagmus in strabismus: are asymmetries related to binocularity? Invest Ophthalmol Vis Sci 44:5142–5150

    Article  PubMed  Google Scholar 

  • van den Berg AV, Collewijn H (1988) Directional asymmetries of human optokinetic nystagmus. Exp Brain Res 70:597–604

    Article  PubMed  Google Scholar 

  • Wagner RS, Caputo AR, Reynolds RD (1990) Nystagmus in Down’s syndrome. Ophthalmology 97:1439–1444

    PubMed  CAS  Google Scholar 

  • Welsh TN, Hoang S, Chandrasekharan S, Paulson S, Lynnes A, Ayres F (2009) Goal-directed saccades of young adults with and without Down Syndrome. Down Syndr Q 11:10–15

    Google Scholar 

  • Wong V, Ho D (1997) Ocular abnormalities in Down syndrome: an analysis of 140 Chinese children. Pediatr Neurol 16:311–314

    Article  PubMed  CAS  Google Scholar 

  • Zigman WB, Lott IT (2007) Alzheimer’s disease in Down syndrome: neurobiology and risk. Ment Retard Dev Disabil Res Rev 13:237–246

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

This study was supported by the Coleman Institute for Cognitive Disabilities, Boulder, Colorado. The author also received salary support from the National Institute of Child Health and Human Development (NICHD) Grants HD37424 and HD056235 and from the Linda Crnic Institute during the data analysis phase of this project. This study could not have been carried out without the enthusiastic support of the participants in the study and the Mile High Down Syndrome Association. The author is indebted to the anonymous expert reviewers of this manuscript for their constructive and insightful comments.

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Authors and Affiliations

  1. 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 C. S. Costa

  2. Neuroscience Training Program, University of Colorado Denver, Aurora, CO, 80045, USA

    Alberto C. S. Costa

  3. Colorado Intellectual & Developmental Disabilities Research Center (IDDRC), Aurora, CO, 80045, USA

    Alberto C. S. Costa

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Correspondence to Alberto C. S. Costa.

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Costa, A.C.S. An assessment of optokinetic nystagmus (OKN) in persons with down syndrome. Exp Brain Res 214, 381–391 (2011). https://doi.org/10.1007/s00221-011-2834-5

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