Mary Coleman Lecture 2015

Summary

"The Autisms and What They Teach Us About the Social Brain"

More than 250 people had gathered to attend the Mary Coleman lecture on the 25th of September 2015. The lecture that took place at the Wallenberg Hall in Gothenburg is the first in a series of named lectures, that will occur every two years by a distinguished researcher in the field of autism and related conditions. The first lecture in this series was held by Professor emeritus Mary Coleman herself. The title of her talk was ‘The autisms and what they teach us about the social brain’. Mary Coleman is Emeritus Clinical Professor of Pediatrics (Neurology) Georgetown University School of Medicine in Washington. Professor Mary Coleman began her interest in autism in the 1960’s and early on she noticed several cases with minor or major neurological abnormalities or other medical conditions. Mary Coleman initiated her talk addressing five questions and the outline of her lecture built on responding these questions one by one. Her first question was: ‘Is there such a thing as a single disease called autism? ’ She then gave several examples of different disorders and biochemical and genetic abnormalities that can give the same behaviour pattern and therefore the answer is ‘No, there is no unique entity called autism’. The second question was if children with autism should have a genome sequencing as part of their work-up. Mary Coleman gave several examples of how a well-known cause of autism such as Angelman syndrome with a deletion on chromosome 15 can be mimiced by other syndromes with another known chromosomal aberration. It is therefore important to make genomic screening in children who are not yet diagnosed. The screening has become more affordable and the known genome may lead to a targeted treatment in the future. The third question dealt with the skewed ratio boys to girls in the autisms ranging between three to six boys to one girl. The simple explanation is that most underlying diseases mainly occur in males. Many syndromes are X-chromosome linked. Females have two X-chromosomes but males only one, which is one explanation to why males are more susceptible to gene mutations than females and therefore develop autism more often. The fourth question concerned regression in children who initially appear to develop normally. This phenomenon has mainly to do with the timing of particular mutated genes which are designed to produce a protein in significant amount. The last inquiry addressed the chance of developing a medical therapy for a child with autism. Professor Mary Coleman’s reply was the importance of studying each individual one by one since targeted medical therapy for each child is the ideal. So far the majority of individuals with autism remain undiagnosed. Reasons for this include that the genomic variation is so diverse and we are just in the beginning of understanding the role of epigenetics. The lecture ended with questions from the audience.