Dan Parton writes (18th July 2012) : News from Barcelona this week of a development by geneticists that could ensure that learning disabilities are diagnosed more quickly is welcome for all concerned.


Speaking at the 8th FENS Forum of Neuroscience, Dr Joris Veltman from Radboud University Nijmegen Medical Center in the Netherlands described the first results of a single blood test to screen a person’s entire DNA to diagnose genetic brain disorders.


The process, called whole exome sequencing, could help to quickly identify children who have a learning disability – and what the disability is.


This is potentially great news because getting a formal diagnosis of a learning disability can be a difficult and time-consuming process. For example, a recent survey by the National Autistic Society found that nearly two thirds of families found it took more than a year to receive an autism diagnosis after first raising concerns, with 34% saying it took at least 3 years. The same is true for many other learning disabilities, from what I’ve heard.


So, if a relatively simple test can be developed from this research to help diagnose a learning disability more quickly, then it can only be a good thing.


Getting a diagnosis is crucial for families of children with learning disabilities, because only then can they start to identify the right support and access the help they need. And the quicker the child with learning disabilities can receive the right support, the better their quality of life will be and it can help them to lead the life they want to lead.


While more research and testing of this is on-going, hopefully a test will be publicly available in the next few years. If it is as good as claimed, then it will certainly be a valuable tool for clinicians.


Dr Veltman adds that this research on the biological origin of a learning disability also gives hope for new therapy development. However, there is no reason to get too excited about this news; much more research will need to be done before there is any suggestion of new treatments being brought to market.