Joubert syndrome is not a cause of classical autism

Am J Med Genet A. 2005 Feb 1;132A(4):347-51. doi: 10.1002/ajmg.a.30500.


A previous report noted a 27% prevalence of autism in Joubert syndrome (JS), raising the question of overlapping etiologies. Family studies have shown that autism is characterized by family loading for a number of specific behavioral and psychiatric disorders and that the sib recurrence risk is around 4%. The purpose of this study is to determine whether children with Joubert and their families show behavioral or genetic characteristics similar to autism. Thirty-one volunteer Joubert families were identified. Parents completed a semi-structured family history interview and the Autism Behavioral Checklist. Rates of family loading for neuropsychiatric disorders in the JS families were compared to autism family history data and Down syndrome (DS) controls. The JS families had significantly lower rates of autism, alcoholism, cognitive, and language disorders than the autism families. Their rate of depression was lower, but not significantly different from that found in autism families. None of the JS children met the clinical cut-off for autism based on parental symptom report and the sib recurrence risk was 32% for the JS families compared to 4% for the autism and 0% for DS families. These data indicate that JS is a genetically distinct disorder from autism. Different genes with different inheritance patterns that affect neurodevelopment of the cerebellum could explain the clinical similarities previously reported in JS and autism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics
  • Cerebellum / abnormalities*
  • Child
  • Child, Preschool
  • Developmental Disabilities / pathology*
  • Family Health
  • Female
  • Humans
  • Infant
  • Male
  • Nuclear Family
  • Ocular Motility Disorders / pathology
  • Siblings
  • Syndrome