Scientists Identify Genetic Switch Left In 'On' Position As Likely Cause Of Autism In Children

[Arthur Little]

http://www.independent.co.uk/news/sc...-10444045.html

Hmm, ... I wonder what my daughter - a Speech & Language Therapist (with a special interest in this condition) for 15 years prior to putting her career on hold for the sake of full-time motherhood - would make of the findings of these scientists?

[grahamw48]

Fascinating stuff Arthur.

[Doc Alan]

It would indeed be interesting to know what your daughter would make of these findings, Arthur.


The tendency now to is to talk about " autism spectrum disorder ". It’s probably several separate disorders, the cause(s) of which are still uncertain - indeed the spectrum includes " variations from normality " through to mental illness. It usually starts in childhood, and the " spectrum " may include problems with social interaction and communication ; thought patterns and physical behaviour ; and learning difficulties in about half ; it’s much commoner in males. It appears to have increased in frequency in the past two decades, a fairly consistent rate across most countries being 1/100. Increased awareness and diagnosis may have contributed to the apparent increase.


The " genetic switch " described in the research identifies ONE mutation that is A likely cause for autism. This was spontaneous ( not seen in the child’s parents ), and the mutated gene in the patient’s cells caused over-production of " dendritic spines " in mice nerve cells. Dendrites are projections from nerve cells which allow communications between them. They are thought to be increased in autism ( and decreased in Down’s syndrome ).


Like most syndromes ( groups of signs and symptoms ), autism involves a genetic component. " Fascinating stuff " indeed, but on its own that doesn’t explain much, as between 500 and 1000 different genes are thought to play a part. So-called " assortative mating " ( where people from similar backgrounds form partnerships ) may play a role ; there’s also a correlation between raised levels of the male hormone testosterone in the womb. Thankfully it’s no longer believed that bad parenting ( a belief based on study of children separated from their parents during World War II ), or dietary factors, play causal roles.



So while there’s no specific cure, education and behaviour support can help – but as Arthur’s daughter will remember, caring for someone with such a disorder is not easy.