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Horizontal head titubation in infants with Joubert syndrome: a new finding


Poretti, Andrea; Christen, Hans-Jürgen; Elton, Lindsay E; Baumgartner, Manuela; Korenke, Georg Christoph; Sukhudyan, Biayna; Hethey, Sven; Cross, Elizabeth; Steinlin, Maja; Boltshauser, Eugen (2014). Horizontal head titubation in infants with Joubert syndrome: a new finding. Developmental Medicine and Child Neurology, 56(10):1016-1020.

Abstract

Aim: 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.
Method: Detailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos.
Results: 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.
Interpretation: 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.

Aim: 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.
Method: Detailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos.
Results: 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.
Interpretation: 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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:October 2014
Deposited On:12 Feb 2015 13:09
Last Modified:05 Apr 2016 18:50
Publisher:Mac Keith Press
ISSN:0012-1622
Publisher DOI:https://doi.org/10.1111/dmcn.12489
Permanent URL: https://doi.org/10.5167/uzh-105193

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