Biology-Based Candidate Intermediate Phenotypes In Autism Research: Hope or Hype?

Many research reports claim the potential of findings for improving diagnosis if not also treatment of ASD.  Such claims have been made for IQ profiles, motor skills, various neuropsychological or cognitive findings, gaze or scan path patterns, and now neuroimaging. All of these past findings led to their premature application in clinical practice for diagnosis until their validity was refuted. Some of these findings became the basis for treatments arising in the community and advertised to families as supported by these scientific findings with no evidence of the validity of such claims or the efficacy of the treatments. Perhaps the largest contributor to the misinterpretation and misuse of science is the media, which typically rely on hyperbole to create drama and rely on the 30-60 second format. Clinicians providing direct care for individuals with autism often do not read the scientific literature in which these findings are published but rely instead on the primary journal for their particular field.  Even if they access the original articles, they lack the expertise to judge and critique such reports. One tragic example of the serious consequences of the unbridled distortion of science and the scientific process was the vaccine debacle initiated by poor judgment in the publication of the original paper and sustained by the frenzy of a media that gave equal or more credibility to the perspectives of lay people as they did to science.  The autism community has been embroiled in one “cure” after another that ultimately were put to rest by the scientific process. However, the outcome is that parents and their children invested their time and finances in unworthy efforts, and lost the opportunity to pursue better avenues. The poverty of universal diagnostic and assessment standards and of interventions to address the myriad of issues that arise in daily life has left families feeling neglected by and skeptical of science. While there have been important scientific advances, they have not fulfilled their potential for improving lives.  Better communication on many fronts and from many sources, and support for translational science that achieves solid advances from basic investigation to clinical research to clinical practice and education is urgently needed. This talk will focus on recognizing the scope of the problem, the forces that are driving it, and possible solutions.