Nobody ever talks about catatonia

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 disorders. It’s important to do genetic testing on all individuals who present with catatonia because this information led to better treatments in some people. Identifying a genetic cause of not just catatonia but also neurodevelopmental disorders like ASD gives families a community but also allows them to identify more targeted interventions.

https://pubmed.ncbi.nlm.nih.gov/37864080/

https://pubmed.ncbi.nlm.nih.gov/37642312/

https://pubmed.ncbi.nlm.nih.gov/36708735/

https://globalgenes.org/rare-disease-patient-services/

What is the point of genetic testing?

If only 10% of people with ASD have a known genetic mutation associated with autism, what is the point? Why bother? This week we discuss why it is important for that 10%, what the benefits are, and how genetic testing may help the other 90% as well.

https://www.sciencedirect.com/science/article/pii/S0002929720301130

https://pediatrics.aappublications.org/content/146/4/e20193211

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869000/