By Alison Singer and Alycia Halladay
Spectrum News recently published “What Baby Siblings Can Teach Us About Autism,” an in-depth exploration of baby siblings research, and particularly initiatives made possible by the Baby Siblings Research Consortium (BSRC), which ASF funds. We are grateful that the writer, Ingfei Chen, and Spectrum have highlighted the impactful work that is being done in what we believe is an extremely significant and exciting area of autism science. However, there are some points of clarification about the article that we think are important to share.
The BSRC is a group of 26 principal investigators around the world who have spent nearly two decades investigating the very earliest signs and symptoms of autism by tracking behavior from early infancy. Because infant siblings show a ~15x greater increase in ASD diagnosis compared to those without such a family connection, the younger sibs of children with autism provide an enriched pool, as 20% of them will likely be diagnosed with autism vs. 1-2% in the general population. Such an approach is not unique to autism, but has been an especially productive avenue to understand ASD symptoms.
Baby siblings research has been a major source of information to families affected by ASD. Even though 80% of the children studied will not go on to receive an ASD diagnoses, we have learned a tremendous amount from the 20% that did. Because all siblings are closely tracked from infancy, clinicians are now more able to help the 80% without a diagnosis who still face considerable challenges. And while it is true that baby sibling research has not yielded a definitive diagnostic test for children at 12 months of age, these studies are hardly a failure. Baby sibs research has identified or confirmed several early warning signs, including lack of response to name, abnormal eye gaze and motor delays. Baby sibs research has helped identify new autism candidate genes that have yielded new targets for drug intervention. And importantly (as the Spectrum story describes), new imaging work through a partnership between the BSRC and the IBIS network has identified two critical new brain based biomarkers that hold important future promise. The Spectrum report mentioned only one of many such biologically based markers of early risk being explored. For example, investigators are exploring other biomarkers that may be more practically implemented, like eye gaze and EEG.
Autism is heterogeneous and highly complex. It requires high risk, high reward type studies. To put it in perspective, when the BSRC first started conducting studies, genetic researchers were searching for what they thought would be one or two autism genes. They now know there are at least 60 autism genes. Our family members with autism need us to think boldly and invest wisely. Instead of considering the early BSRC studies “misguided” because they failed to produce a diagnostic test, we should focus on the fact that these longitudinal studies have produced important advances in diagnosis, intervention, family support, and neurobiology and have spawned important lines of research across the ASD spectrum. Most importantly, these early markers of an autism diagnosis have given families across the world an opportunity to receive the earliest possible intervention. The benefits of these interventions have been well documented.
We consider the BSRC a success for families and look forward to new and important discoveries to come that will improve the lives of people with autism and their families.