title: Horizontal head titubation in infants with Joubert syndrome: a new finding.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland; 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.
authors.forename: Andrea
authors.initials: A
authors.lastname: Poretti
authors.forename: Hans-Jürgen
authors.initials: HJ
authors.lastname: Christen
authors.forename: Lindsay E
authors.initials: LE
authors.lastname: Elton
authors.forename: Manuela
authors.initials: M
authors.lastname: Baumgartner
authors.forename: Georg Christoph
authors.initials: GC
authors.lastname: Korenke
authors.forename: Biayna
authors.initials: B
authors.lastname: Sukhudyan
authors.forename: Sven
authors.initials: S
authors.lastname: Hethey
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Cross
authors.forename: Maja
authors.initials: M
authors.lastname: Steinlin
authors.forename: Eugen
authors.initials: E
authors.lastname: Boltshauser
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D017668:Age of Onset; D002526:Cerebellar Diseases / Q000150:complications / Q000503:physiopathology*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000150:complications / Q000503:physiopathology*; D005260:Female; D019416:Head Movements / Q000502:physiology*; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000503:physiopathology*; D008297:Male; D009069:Movement Disorders / Q000209:etiology / Q000503:physiopathology*; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology; D012189:Retrospective Studies