Persistent figure‐eight and side‐to‐side head shaking is a marker for rhombencephalosynapsis. Issue 14 (18th September 2013)

• Record Type: Journal Article
• Authors: Tully, Hannah M.; Dempsey, Jennifer C.; Ishak, Gisele E.; Adam, Margaret P.; Mink, Jonathan W.; Dobyns, William B.; Gospe, Sidney M.; Weiss, Avery; Phillips, James O.; Doherty, Dan
• Is Part Of: Movement disorders. Volume 28:Issue 14(2013)
• Page Start: 2019
• Page End: 2023
• Publication Date: 2013-09-18
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.25634
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="mds25634-sec-0001" sec-type="section"> <title>Background</title> <p>Head‐shaking stereotypies have been described in patients with neurological impairment. We noted an unusual preponderance of head shaking in patients with rhombencephalosynapsis (RES). We sought to delineate the movements further and determine whether oculomotor and vestibular testing could reveal their cause.</p> </sec> <sec id="mds25634-sec-0002" sec-type="section"> <title>Methods</title> <p>Information was collected from direct observation, video review and parental questionnaire from 59 patients with RES. Oculomotor and vestibular testing was performed in 4 children.</p> </sec> <sec id="mds25634-sec-0003" sec-type="section"> <title>Results</title> <p>Of 59 patients, 50 had persistent head shaking that was often observed years before RES was recognized. Three affected children demonstrated abnormal central vestibular processing.</p> </sec> <sec id="mds25634-sec-0004" sec-type="section"> <title>Conclusions</title> <p>Head‐shaking is common in RES. These characteristic movements may provide input to a defective vestibular system or may represent a motor pattern that is usually suppressed by vestibular feedback. Persistent head shaking should alert clinicians to the possible presence of a congenital hindbrain abnormality that affects the vestibulocerebellum, particularly RES. © 2013 International Parkinson and Movement Disorder Society</p> </sec> </abstract>