Horizontal head titubation in infants with Joubert syndrome: a new finding. (10th May 2014)

• Record Type: Journal Article
• Authors: Poretti, Andrea; Christen, Hans‐Jürgen; Elton, Lindsay E; Baumgartner, Manuela; Korenke, Georg Christoph; Sukhudyan, Biayna; Hethey, Sven; Cross, Elizabeth; Steinlin, Maja; Boltshauser, Eugen
• Is Part Of: Developmental medicine & child neurology. Volume 56:Number 10(2014:Oct.)
• Page Start: 1016
• Page End: 1020
• Publication Date: 2014-05-10
• Subjects: Child development -- Periodicals; Pediatric neurology -- Periodicals; 616.8
• DOI: 10.1111/dmcn.12489
• Languages: English
• ISSNs: 0012-1622

Abstract

<abstract abstract-type="main" id="dmcn12489-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="dmcn12489-sec-0001" sec-type="section"> <title>Aim</title> <p>Head thrusts are well documented in Joubert syndrome and ocular motor apraxia. We provide a detailed clinical characterization of head titubation in 13 young children with Joubert syndrome.</p> </sec> <sec id="dmcn12489-sec-0002" sec-type="section"> <title>Method</title> <p>Detailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos.</p> </sec> <sec id="dmcn12489-sec-0003" sec-type="section"> <title>Results</title> <p>In 12 of 13 children (eight males, five females; median age 6y, range 2mo–15y) head titubation was first recognized in the first 2 months of age and decreased in severity until spontaneous resolution. In all children, the head titubation was horizontal, high frequency (~3Hz), had small amplitude (5–10°), was never present during sleep, and did not interfere with the neurodevelopment during infancy. In the majority of children, emotion, anxiety, and tiredness were worsening factors for head titubation.</p> </sec> <sec id="dmcn12489-sec-0004" sec-type="section"> <title>Interpretation</title> <p>Head titubation is a benign, early presentation of Joubert syndrome. Head titubation in hypotonic infants should prompt a careful search for Joubert syndrome. Awareness of its occurrence in Joubert syndrome may avoid unnecessary investigations.</p> </sec> </abstract>