Autism Spectrum Disorders: From Mechanism to Therapy Day 1 of the Cell/Society for Neuroscience conference that I am attending. Some highlights:
• In 1943, Johns Hopkins physician Leo Kanner first described autism as the “innate inability to form usual biologically affective contact with other people”. The next year, Dr. Asperger described some Austrian children he was treating, with similar traits.
• autism has tremendous heterogeneity and it is said that “if you have seen 1 child with autism, you have seen 1 child..”
• autism is associated with many other problems (comorbidity)..1/3 have seizures, also common are attention deficit hyperactivity disorder, intellectual disability, gastrointestinal and immune disorders
• autism is highly inheritable (50-88% concordance in identical twins), but inheritance is complex rather than simple Mendelian. There are many genes (>105) that cause or increase risk, possibly with common pathways.
• environmental factors are involved but unclear. As proof of concept, mothers who have taken valproic acid (for depression) or thalidomide, or have Rubella (German Measles) when pregnant have higher risks of having autistic children
• Mouse models of autism mimic the social impairment, repetitive behavior and language problems. Wait..mice talk? Yes! I heard ultrasonic recordings of pups calling to their mothers, males confronting one another, and romantic love songs between mates! Very cute mouse chat!