For the third Rosewell Lecture of the year, we were very honoured to welcome Xinhe Zhang, a PhD candidate from the Autism Research Centre of Cambridge University, who delivered a lecture on “Understanding Autism: diversity, diagnosis and new research”.
Autism, clinically known as Autism Spectrum Disorder (ASD), is characterised by “persistent deficits in social communication and social interaction across multiple contexts” resulting in clinically significant impairment. Challenges of ASD include difficulties in understanding social cues, strict adherence to routines, fixated interest, and hyper-reactivity to sensory input. However, Zhang emphasized that the characteristic of ASD is not fixed but it remains an evolving area of research. Current estimates suggest that ASD affects around 1 to 2% of the global population.
There are a range of methods to measure ASD, such as through observations done by specialists (ADOS), or self-report questionnaires (Q-chat or AQ) which are less time-consuming. Perhaps counterintuitive to its name, recent research has shown that ASD is a categorial condition rather than a spectrum, meaning ASD is not evaluated through the severity of traits, but either individuals are autistic or they aren’t.
With reference to new studies, researchers are working to establish subtypes within the disorder to provide better support. One way of studying subtypes is through linking questionnaire data with multi-dimensional factors, such as IQ and age, to try to recognise patterns within these interacting factors. The other way is to establish data-driven subtypes, where researchers use machine learning to let patterns emerge without presuming any related factors. Through the second method, researchers have found 4 subtypes within the autistic population!
Despite advances in research, several obstacles persist in the diagnosis of ASD. Firstly, if the individual is already diagnosed with other known conditions, professionals may misattribute traits of ASD to the pre-existing conditions, causing a delay in the correct diagnosis; a phenomenon known as diagnostic overshadowing. Secondly, some autistic individuals – particularly females – may consciously or unconsciously mask their traits to better fit into society, which can lead to worsened mental health, and make ASD harder to be recognised. Thirdly, there is a gender gap in the diagnosis rate. Approximately four males are diagnosed for every one female, but the female diagnosis rate catches up towards late teenage years. The disparity reflects the fact that early studies of ASD were conducted around males, so psychologists might be biased in their training to recognise ASD in males but not females.
Zhang’s key research areas focus on the genetics of autistic individuals and how that correlates to the timing of diagnosis. Her research help discover that people diagnosed at a similar age share similar underlying genetic profiles, and individuals diagnosed with ASD earlier versus later in life follow different developmental pathways. In addition, the genetic profile of later-diagnosed ASD is more closely associated with other mental health conditions, like depression and ADHD.
In conclusion, the lecture emphasised how ASD is a diverse subject, and multiple approaches is needed to understand ASD. Conversations around ASD will continue to evolve as research advance further.
by Audrey (Y12)