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

Dev Med Child Neurol. 2014 Oct;56(10):1016-20. doi: 10.1111/dmcn.12489. Epub 2014 May 10.

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.

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Age of Onset
  • Cerebellar Diseases / complications
  • Cerebellar Diseases / physiopathology*
  • Cerebellum / abnormalities
  • Child
  • Child, Preschool
  • Eye Abnormalities / complications
  • Eye Abnormalities / physiopathology*
  • Female
  • Head Movements / physiology*
  • Humans
  • Infant
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / physiopathology*
  • Male
  • Movement Disorders / etiology
  • Movement Disorders / physiopathology*
  • Retina / abnormalities*
  • Retina / physiopathology
  • Retrospective Studies

Supplementary concepts

  • Agenesis of Cerebellar Vermis