A team of researchers have successfully discovered and decoded genetic and behavioral features that have been observed in some cases of ASD. The team strongly believes these results could help them with the necessary identification of existing subgroups which could result in improved treatments.
Autistic children who have a history of non-inherited and spontaneous changes in ASD-related genes were observed to display ‘muted’ symptoms related to language and social behaviors.
These results were further compared to age, IQ levels and gender differences of autistic children who had no history of genetic abnormalities.
The researchers further observed some key clues that lay in children with spontaneous glitches in starting to walk much later than typical autistic children. The team believes the walking delays could be due to unusual numbers of genetic copies or other underlying mutations.
The nature of the odds with spontaneous abnormal genes was seen to increase by as much as 17 percent for every month walking was delayed.
Audrey Thurm from NIMH Intramural Research Program explains, “Identifying autistic individuals whose autism is associated with a particular genetic abnormality might help us to understand the underlying distinct processes which could further lead to trace specific causes.”
Thurm further says, “The results of our tireless research can help increase awareness about the underlying relationship between late walking and genetic abnormalities.”
Prior to starting the study, the team estimated that in 10 to 15 percent of autistic children with non-inherited genetic copies with suspected disruptions and unusual variations, mutations with extreme severity would be observed.
Interestingly, the discovery offered revelations due to advanced genome technology that seamlessly allows suspect genes to be accurately identified.
Further, the advanced technologies of the present times allow for better identification and rigorous matching of children, either with or without gene abnormalities in comparison to earlier studies.
For instance, the present study was seen to be a controlled study to uncover the confounding potential effects of underlying IQ’s which were previously seen to be much lower in autistic children than usual.
Further, the data obtained highlighted that young children diagnosed with de novo mutations tend to have less impairment in core autism symptoms than their other typical autistic peers who did not have gene abnormalities.
Other children were also seen to have strong verbal, socio-communication and language abilities and clinicians who assessed these children were not confident about accurate autism diagnoses for children who were part of the subgroups.
Children with genetic abnormalities and de novo mutations were seen to walk at an average of 19 months while other typical autistic children walked at an average of 13.6 months.
While other children in the group were seen to meet the criteria for an autism diagnosis, children with probable genetic abnormalities were observed to show other subtle behavioral differences.
The researcher’s highlight that the current findings are in sync with earlier assertions and suggest conferring risks of neurodevelopmental complexities generally, rather than terming them specifically as autism core symptoms.