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

Authors

  • Andrea Poretti,

    Corresponding author
    1. Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
    2. Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    • Correspondence to Andrea Poretti, Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, Charlotte R Bloomberg Children's Center, Sheikh Zayed Tower, Room 4174, 1800 Orleans Street, Baltimore, MD 21287-0842, USA. E-mail: aporett1@jhmi.edu

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  • Hans-Jürgen Christen,

    1. Department of Pediatric Neurology, Children's Hospital auf der Bult, Hannover, Germany
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  • Lindsay E Elton,

    1. Child Neurology, Pediatric Specialty Services, Austin, TX, USA
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  • Manuela Baumgartner,

    1. Pediatric Neurology, Department of Paediatrics, Hospital Barmherzige Schwestern, Linz, Austria
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  • Georg Christoph Korenke,

    1. Department of Pediatric Neurology, Children's Hospital, Oldenburg, Germany
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  • Biayna Sukhudyan,

    1. Department of Pediatric Neurology, “Arabkir” Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia
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  • Sven Hethey,

    1. Department of Pediatric Neurology, Children's Hospital auf der Bult, Hannover, Germany
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  • Elizabeth Cross,

    1. Child Neurology, Pediatric Specialty Services, Austin, TX, USA
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  • Maja Steinlin,

    1. Department of Pediatric Neurology, University Children's Hospital, Berne, Switzerland
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  • Eugen Boltshauser

    1. Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
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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.

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