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), pp. 1016-1020. Blackwell 10.1111/dmcn.12489

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Neuropaediatrics

UniBE Contributor:

Steinlin, Maja

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0012-1622

Publisher:

Blackwell

Language:

English

Submitter:

André Schaller

Date Deposited:

19 Mar 2015 12:34

Last Modified:

29 Oct 2015 10:16

Publisher DOI:

10.1111/dmcn.12489

PubMed ID:

24814865

BORIS DOI:

10.7892/boris.65310

URI:

https://boris.unibe.ch/id/eprint/65310

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