“This is exactly what I’m interested in, this is what I’m passionate about and this is extremely clinically relevant to the population of children I see', Dr Kirsten Furley, Paediatric, Doctor in Training (DiT), says.
Dr Furley (pictured) is researching the biological overlaps that exist between Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). It is the first time the disorders have been examined together in this way.
She has been awarded an Avant Doctor in Training Research Scholarship to complete this research project under the supervision of Professor Mark Bellgrove, an internationally renowned authority on the neurobiology of ADHD.
Dr Penny Browne, Chair of the Avant Foundation Board, says she is proud Avant can support this life-changing work. “Congratulations to Dr Furley for contributing to the improvement of medicine. This fascinating, world-first research is – at its heart – all about enhancing the lives of patients and their families,” she praises.
Child development and behaviour has always interested Dr Furley. She actually completed an Honours Degree in Psychology before stepping into an accelerated medical training program in the United Kingdom.
A life-changing decision to exchange to the Royal Children’s Hospital in Brisbane for specialty training in paediatrics, strengthened her resolve to dual train in general paediatrics and community child health. Dr Furley says she felt very supported throughout her paediatric training in Australia, the country she now calls home.
Coupled with this passion for paediatrics, is Dr Furley’s enthusiasm for research, which she says appealed to her early on as a student in psychology. In a previous research project, Dr Furley was part of a team that found mothers of children with ADHD exhibit greater ADHD symptoms compared to other mothers and that siblings were also often affected. This study highlighted the importance of involving the entire family when assessing and managing a child with a diagnosis of ADHD.
An opportunity came up to meet with lead researchers of her current project on ADHD and ASD, Dr Beth Johnson and Professor Bellgrove, while Dr Furley was working in community paediatrics at the Monash Children's Hospital.
Buoyed when her keen questioning was met with equal enthusiasm, it clicked as being the logical next step in her career, “This is exactly what I’m interested in, this is what I’m passionate about and this is also extremely clinically relevant to the population of children I see,” Dr Furley reflects.
Hope for families
It’s estimated that one in 20 children in Australia have ADHD and around one in 150 people in Australia are affected by ASD.
ADHD and ASD symptoms co-occur in 20-50% of cases, and share common genes. Despite this, patients are often diagnosed and treated for separate disorders.
Dr Furley is acutely aware that families with an ASD or ADHD diagnosis go through some extremely challenging times.
“At the moment there are challenges in diagnosing ASD and ADHD and individualising and optimising management', she says. “So with this study, we’re aiming to be able to identify and support the symptoms the person is experiencing better,” Furley adds, 'I’d like to think we’re giving families some hope by filling in the gaps.”
The biological signature
Dr Furley says it’s the first time anyone in the work has looked at the genetic underpinnings of symptoms of both ASD and ADHD together.
“There have been investigations on ASD and ADHD – both highly complex conditions – but, as far as I’m aware, there’s never been research looking at symptoms of both disorders and then trying to map whether there are any genetic changes specific to a patient's particular symptoms,” Dr Furley says.
Using sensitive neuro-cognitive measures, Dr Furley’s project will record the full ASD-ADHD genetic spectra and identify traits that provide robust, characteristic biological signatures that define subgroups across the spectrum.
Lately, Dr Furley has been busy recruiting participant families and sending out DNA kits to collect samples for analysis.
Participants will then also undergo clinical assessments with Dr Furley, so she can dimensionally index neuro-cognitive domains central to ASD-ADHD symptomology.
The goal of this is to identify the behavioural signatures that best define ADHD and ASD subtypes, and link these to genetic risk profiles. This approach has been used successfully for psychiatric disorders, such as schizophrenia and bipolar disorders.
A better model for all
Dr Furley hopes that by identifying the biological signatures of ASD and ADHD, diagnosis will be quicker and more accurate.
For a child it will mean tailored support and medication management based on their individual symptoms and gene characteristics.
For families it will mean fewer visits to clinicians and allied health professionals.
For clinicians like herself, Dr Furley says it will be extremely useful to know exactly which symptoms to target. There is also the potential to help clinicians predict outcomes for patients as well as responses to treatment.
According to Dr Furley, the Avant grant has been instrumental in allowing the project to go ahead, but also in growing her career and skill-set. She is humbled to be able to contribute to medicine in this way. “I’m very thankful to Avant for helping me be a part of this bigger picture,” Dr Furley says.