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Spanish researchers in largest-ever genetic autism study make ground-breaking discoveries
04 February 2020 @ 09:08

IN THE LARGEST-EVER genetic study into autism, researchers at Madrid's Gregorio Marañón Hospital have successfully identified 102 genes after analysing more than 700 patients.

Some 35,000 individuals took part in the study, including people with Autism Spectrum Disorders (ASDs) and also mentally-disabled persons with neuro-developmental delay (NDD), plus confederates and scientists.

And 30 of the genes identified are completely new.

ASDs cover a multitude of neurological differences – there is some debate over whether Asperger is a form of high-functioning autism, and it is often the most 'invisible' on the spectrum as those with it lead normal lives and are often of very high intelligence and abilities, whilst other, more severe strains can mean the patient is, in medical and psychological terms, retarded (typically characterised as with an IQ of 70 or less) meaning they need round-the-clock care.

Some autistic people are non-verbal and show developmental delays, although at the higher-functioning end of the spectrum, advanced development is often a feature.

Mental disability or learning difficulties are not necessarily associated with autism per se, but the two often overlap in the severely-autistic.

Until now, it has often been questioned whether autism is passed on through generations – in the case of high-functioning autism, or Asperger's parents, their children will often receive the same diagnosis.

But the Gregorio Marañón study has found both 'rare', or unrelated, genes, as well as hereditary genes, involved in both ASDs and NDD.



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