rare genetic disorder – ASF Weekly Science Podcasts

Everyone knows cognitive ability is critical for understanding autism, however, how does it affect developmental trajectories of autism traits, and can it be accurately measured in those with severe intellectual disabilities? We discuss. Plus, more evidence that tylenol doees not cause autism. https://pubmed.ncbi.nlm.nih.gov/41207796 https://www.aaidd.org/docs/default-source/prepressarticles/which...

Gene therapies have been in the news lately. They are being used to help individuals who have a genetic variant linked to a disorder or disease, including but not limited to: spinal muscular atrophy, carbamoyl phosphate synthetase 1 (CPS1) deficiency, diabetes and some types of cancers. What is the promise in rare genetic forms of … Continue reading "Genetic therapies in store for neurodevel...

This year’s International Society of Autism Research Meeting was filled with great presentations about causes, diagnosis, interventions, mechanisms, supports, understanding sex differences and different populations of those with autism. But not everyone could fly to Seattle to attend. This week’s podcast provides a short summary of just some of the science presented. Michael Lombardo p...

Animal models of autism, including cell based models, have received criticism because autism is a uniquely human condition so there is no value in studying it in a model like a mouse or a cell. On the other hand, model systems have been used for decades to develop therapies for a myraid of other conditions … Continue reading "The Importance of Model Systems"

In part 2 of the GI series in ASD, a new paper in the Journal of Nutrition and Gastroenterology describing the www.candidgi.com meeting is described. While sometimes doctors may be know-it-alls, sometimes they do not know-it-all and need experts to advise them, especially when they encounter individuals who may be hard to diagnose and treat. … Continue reading "Catching up with CANDID"

Nobody ever talks about catatonia in autism. This podcast explores the symptoms of catatonia, how to measure it, what parents should know about tracking the symptoms, what the treatments are, and what the causes are. Dr. Martine Lamy from Cincinnati Children’s Hospital explains her work looking at genetic causes in those with catatonia and neurodevelopmental … Continue reading "Nobody...

Thanks to Dr. Susan Kuo at Broad Research Institute and MIT, there is an analysis of 17,000 individuals with autism across 4 different studies that all looked at how developmental milestones emerged. The results show a great deal of diversity – across different studies, time, intellectual disability and genetic background. Different groups of people with … Continue reading "Why develop...

At this year’s International Society of Autism Research meeting in Austin, TX, there was a variety of themes explored. From early development and milestones, to intervention and supports, to different features like sensory issues, treatment, and how to solve the problem of heterogeneity. It comes down to this: Autism means different things to different people. … Continue reading "Autis...

What causes some of the differences across people with autism? Can you predict who will have what features of autism by looking first at genetics? This week’s ASFpodcast is the first 20 minutes of a webinar with Samuel Chawner from Cardiff University that explains his findings about behavioral features across people with autism with difference … Continue reading "A genetic first approa...