Sibling Recurrence and the Genetic Epidemiology of Autism

5 Oct

As if to follow up on the Social Demographic Change and Autism paper we recently discussed here on LeftBrainRightBrain, a new paper on autism recurrence risk in families came out today. Sibling Recurrence and the Genetic Epidemiology of Autism is from a team from the Kennedy Krieger Institute at the Johns Hopkins University. From the abstract I would guess that the study uses the IAN Database.

The authors find about 11% recurrence risk, much higehr than the prevalence of autism (about 1%) and quite similar to that of the Bearman group. Further, the Kennedy Kreiger team find that about 20% of non-autistic siblings have a history of language delay.

Am J Psychiatry. 2010 Oct 1. [Epub ahead of print]
Sibling Recurrence and the Genetic Epidemiology of Autism.

Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P.

Departments of Psychiatry and Pediatrics, Washington University School of Medicine, St. Louis; the Center for Autism, Cleveland Clinic, Cleveland; and the Kennedy Krieger Institute, Medical Informatics, Baltimore.

Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multipleincidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.

4 Responses to “Sibling Recurrence and the Genetic Epidemiology of Autism”

  1. esattezza October 7, 2010 at 20:10 #

    Your guess is correct, the did use IAN data. I talked to one of the authors on this paper at IMFAR a few months ago. It’s an interesting paper, and there’s a lot of analyses that they haven’t run that I would be interested in seeing.

  2. Roger Kulp October 8, 2010 at 19:07 #

    Would this be data from people who submitted forms from the IAN website?

    I would be curious if the IAN people ever got back to anyone,if they had submitted forms or data about multiple siblings with autism,to validate it.They never did for me.

  3. Alistair Didinal January 27, 2018 at 12:52 #

    We absolutely do need good support, for them and for those that may care for them. Proper funding for more research. Really good outcomes. I and others strive for this in so much that we do, ensuring that each autistic individuals is able to lead a good life.


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