Stoppage rules and genetic studies of autism.
Ignoring stoppage rules still underestimates autism heritability, but today’s data show the fix is a small tweak, not a wholesale rewrite.
01Research in Context
What this study did
Joyce et al. (1988) re-checked 46 families with more than one child with autism. They looked at how parents decide to stop having kids after a diagnosis. This choice is called a stoppage rule.
The team wanted to see if ignoring stoppage rules makes autism look less genetic than it really is.
What they found
Ignoring stoppage rules pushed the inheritance rate down. When the team fixed the math, the true rate looked higher.
Birth order also looked skewed if stoppage was left out.
How this fits with other research
Au-Yeung et al. (2015) used the whole Danish registry and found the bias is real but small. Their big sample shows the 1988 warning still matters, yet today’s numbers need only a tiny tweak.
Ohan et al. (2015) gave families fresh risk figures after fixing for stoppage: about 25 % for the next child, jumping to 50 % if two older siblings already have ASD. These hard numbers build directly on the 1988 warning.
Ahlborn et al. (2008) and Castermans et al. (2004) review the same gene-hunt field. Both cite stoppage as a built-in trap, showing the 1988 point became standard textbook advice.
Why it matters
When you read a genetics paper or talk to parents about odds, check if the authors adjusted for stoppage. If they did not, the risk figures are probably too low. Quote the updated 25 % or 50 % numbers from Ohan et al. (2015) instead of the raw rates. This keeps parent expectations and your own clinical picture closer to reality.
Get CEUs on This Topic — Free
The ABA Clubhouse has 60+ on-demand CEUs including ethics, supervision, and clinical topics like this one. Plus a new live CEU every Wednesday.
When a parent asks, “What are the odds my next child has autism?” say, “About 1 in 4, higher if two siblings are already diagnosed,” and cite the stoppage-adjusted numbers.
02At a glance
03Original abstract
Parents may respond in various ways to the birth of a seriously affected child. They may, for example, decide not to have any more children or to have one more child and then stop. These various responses are called "stoppage rules" in the genetic literature. Where stoppage rules are operative, the order in which affected and nonaffected children are born is disturbed in definite ways. The present paper shows that stoppage rules are at work in a recently reported data set consisting of 46 multiplex families of childhood autism and, as a consequence, that the segregation ratio was underestimated in the original report. The implications of these results for genetic studies of autism are then discussed.
Journal of autism and developmental disorders, 1988 · doi:10.1007/BF02211816