While still rare, there are cases where an autism diagnosis is not made until adulthood. Why have these people been missed and what do they need? How did they go for so long without anyone recognizing that they needed help? A new study from the lab of Dr. Francesca Happe in the UK investigates the characteristics and features of people who were referred for a diagnosis after 18 years of age. Hear more about how they managed in this week’s podcast.
Two studies recently add to an ever growing literature around undiagnosed siblings of individuals with autism. While in autism features there is evidence of the “broader autism phenotype” in female siblings, there is no evidence of elevated sensory symptoms in those with a brother or system with autism. The more we understand about the psychological and psychiatric features of siblings with autism, the more they can be supported to deal not only with their siblings challenges, but with theirs as well.
This week I am in Minneapolis at an incredibly important meeting of Medical Examiners to pitch them the importance of collecting brain tissue for Autism BrainNet. While I was here I noticed a new study on the blogs that is important for families to hear about. It focused on a known environmental exposure in established genetic groups. The authors of the study, led by Dr. Sara Webb at University of Washington, showed that an environmental exposure can modify symptoms in genetically susceptible narrow subgroups. This is the sort of research that will better describe how environmental exposures are affecting autism risk. Thank you to Dr. Sara Webb for your perspectives and interpretation of the data!
What was impactful this year in autism research? This last podcast of 2015 explores the year of the female, highlighting the relatively new exploration into what makes females with ASD different and what they can tell us about everybody with autism and their families. Some of what is discussed was highlighted in other podcasts, but not all of it. The summary is organized so that what may initially be interpreted as small, nonsignificant discoveries, are viewed as progress. Everything from genetics to getting laws passed is included.
Many times signs and symptoms of autism may be seen prior to 3 years of age, but a diagnosis is not made. It may not be autism, but what is it? Studying children at risk for developing ASD but then don’t go on to receive a diagnosis gives researchers a clue. Dr. Meghan Miller from the University of California at Davis discusses a study that follows up these kids to 9 years of age and finds out what is going on with them. Do they have autism after all? Or do they have absolutely no symptoms at all? Or is there something in between?
A special podcast this week on the Autism Sisters Project, in partnership with Icahn School of Medicine. I talk about how the idea came about, what ASF is doing to help find out what sisters can contribute to the science of autism, and why sisters are in a unique position to do so. Please read Lauren Singer’s special letter to the editor to Molecular Autism about being an undiagnosed sister here: http://www.molecularautism.com/content/pdf/s13229-015-0046-8.pdf