Is there a connection between Joubert and Autism?
There is a connection, but it remains somewhat unclear. Autism is a relatively common condition, occurring in 1 in 500 children, and is more likely in boys with a 4:1 male:female ratio. There are likely many different causes for this increasingly common diagnosis. Features of classical autism include poor eye contact and limited communication skills as well as repetitive or self-stimulatory behaviors. Autism has been reported in a number of children with Joubert syndrome in several publications [Holroyd et al 1991; Ozonoff et al 1999]. However, more recent surveys suggest that these behavioral disturbances do not represent classic autism, but are more likely to be related to the underlying cerebellar disorder, eye movement problems, and associated developmental disabilities [Takahashi et al 2005]. It is likely that some children with Joubert syndrome have one or more features that are considered part of the diagnosis of autism, but in our personal experience, few children and adolescen