6/03/2011

JOUBERT SYNDROME AND AUTISM

WHEN THE LITERATURE SUPPORTS IT...JOUBERT SYNDROME AND AUTISM



One study concludes that children with Joubert Syndrome do not have classic autism. Indeed, they don't; they may have syndromic autism: "These children would be considered to have secondary autism, that is, secondary to another genetic or medical diagnosis" (Takahashi et al., 2005). There you go; even this study proves the point. If that's not enough, the authors conclude: "There are a number of limitations of the study that must be acknowledged. The JS population was strongly biased by its selection at a Joubert Foundation Meeting,which undoubtedly accounts for the large number of multiplex families. Moreover, the JS population size is too small to explore questions of heterogeneity within JS. Nevertheless, our data indicate quite strongly that the genetic bases of JS and autism do not etiologically overlap, and that JS is not a frequent cause of autism."





"Many ID syndromes have an incidence of autism that is significantly higher than the incidence for the general population. For example, A current review of the literature shows that 25–47% of individuals with fragile X syndrome, 5–10% of individuals with Downs syndrome, and 16–48% of individuals with tuberous sclerosis (TSC) have a concomitant autism/PDD diagnosis, compared to 0.3–0.6% in the general population (Fombonne 2003, Molloy et al. 2009). Other ID syndromes that have high incidences of concordant autism include Angelman syndrome, Rett syndrome, Joubert Syndrome and Cohen syndrome" (Kaufman et al. 2010).


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