Embracing Complexity: new approaches to research in neurodevelopmental conditions

Written by Georgia Harper & Jon Spiers (Autistica)

For World Autism Awareness Day (2 April 2020), autism research charity Autistica (London, UK) have provided insight into the current challenges and developments in the field, along with how a new approach to research could benefit those living with the condition.

Most people with neurodevelopmental conditions have more than one, yet this group is frequently excluded from studies. To ensure research reflects the complex reality of living with neurodevelopmental conditions, we must all work together.


Co-occurring conditions as an autism research priority

Historically, there has been a mismatch between the priorities of autism research and the issues that matter most to autistic people and their families. At Autistica, we want to change that, and we strive to fund research with genuine practical impact. In 2016, we ran a James Lind Alliance Priority Setting Partnership to establish the research priorities of the autism community [1], which continue to guide our work to this day. Our globally leading involvement work [2] ensures that the people we serve play a meaningful role in what we do.

Time and time again, this community makes clear that what many autistic people and families want from research is better ways to deal with the issues that often sit alongside autism. The work we fund is increasingly about co-occurring conditions, not just autism itself  – in just the past couple of years, we’ve funded studies into suicide, anorexia, depression, anxiety, epilepsy, learning disability and gastro-oesophageal reflux [3].

The complex reality of neurodevelopment

In neurodevelopment, this co-occurrence is the norm rather than the exception. Around one in ten people have a neurodevelopmental condition (NDC) – including autism, learning disability, ADHD, dyspraxia, dyslexia, Tourette syndrome and many others – and most of those people have more than one [4]. While researchers and medical professionals have previously sought to distinguish between different NDCs based on outward presentation, there is now growing recognition that NDCs often share symptoms. Many people with different neurodevelopmental diagnoses often struggle in similar domains: concentrating and organization, managing stress and emotions, communication and interacting with others. People with NDCs also face barriers in society that transcend diagnostic labels: poor access to education, unemployment and health inequalities [5].

However, most systems, services and policies are set up to only look at one condition at a time. In practice, this means people with multiple NDCs and their families spend years on waiting lists between disjointed referrals before getting their first diagnosis. Then, rather than prompting further screening and exploration, this diagnosis delays subsequent diagnoses even further as professionals attribute all their symptoms and traits to the first diagnosed condition [6].

“Too complex” to research?

As recognition grows that multimorbidity is a key area of interest for healthcare [7−9], we are also beginning to see research addressing the overlaps across NDCs and the need for a more holistic approach [10]. Yet we still understand far too little about NDCs and the best ways to improve outcomes, particularly in those with multiple conditions. Studies frequently include unrepresentative samples of participants, with those with multiple conditions excluded explicitly by inclusion criteria and implicitly by study designs, which make it difficult for people with various needs to take part. Co-occurring conditions are seen as polluting the data, meaning people with multiple conditions are all too often seen as “too complex” or “too risky.”

This siloed approach can have a dangerous impact on the healthcare people with NDCs receive. For example, there is significant overlap between autism and epilepsies [11]: epilepsy is a leading cause of early death in autistic people with learning disabilities [12], a group who are often resistant to traditional epilepsy treatments [13]. However, when we reviewed over 1400 global treatment trials for epilepsy, we couldn’t find a single one that had included autistic people [14]. Those at greatest risk are typically excluded from research that could otherwise reduce those risks.

Embracing Complexity

This is why we set up Embracing Complexity [15], a coalition of over 50 neurodevelopmental organizations backing the core beliefs that our beneficiaries overlap, their needs are often similar regardless of diagnosis and that we can achieve more to help them in unison than individually. We hope to stimulate more research that crosses diagnostic boundaries, more lobbying and campaigning, which tackles the common challenges of people with NDCs, and more awareness work to help everyone understand the need to embrace the complexity of people’s wants, desires and hopes for the future as well as their challenges.

Our first report [5], based on a survey of 500 people with NDCs and their families and highlighting the barriers people with NDCs face in diagnosis, services and research, formally launched the coalition in May 2019. Later that year, we published Embracing Complexity in Diagnosis [16], a report highlighting four neurodevelopmental services that have implemented pathways to diagnose multiple NDCs simultaneously. Our hope is that this report can empower clinicians to understand emerging multi-diagnostic models and the principles behind them.

Two founding Embracing Complexity members, Autistica and Epilepsy Research UK (London, UK), announced a joint fellowship last summer to support research into epilepsies in autistic people [17]. Epilepsy Research UK also recently announced a similar joint fellowship with another Embracing Complexity member, Young Epilepsy (Surrey, UK) [18]. This year, thanks to children and young people’s mental health research network Emerging Minds UK [19], we plan to carry out a body of work scoping out opportunities and barriers for trans-diagnostic research.

Research needs to change

As the evidence progresses in this direction, services, charities and research funders alike must show willingness to change. Ensuring studies include people with a diverse and often conflicting range of needs adds cost, time and training challenges. But failing to embrace that complexity means abandoning those who have the most to gain from the right services and support. We need to do the right thing, not the easy thing – and we all need to work together.

As researchers, embracing complexity by considering the effects of multiple neurodevelopmental conditions can make all the difference. Strengthening links with other researchers, particularly those who specialize in different conditions, would enable more effective sharing of knowledge and best practice. Now is the time to think differently.

To find out more about Embracing Complexity visit embracingcomplexity.org.uk.
To learn more about Autistica, the autism research charity who founded the coalition, visit autistica.org.uk.

References

[1] Autistica. Your questions: shaping future autism research (2016).
www.autistica.org.uk/downloads/files/Autism-Top-10-Your-Priorities-for-Autism-Research.pdf
[Accessed 13 March 2020]

[2] Autistica. Take part in research.
www.autistica.org.uk/get-involved/take-part-in-research

[Accessed 13 March 2020]

[3] Autistica. Our current research projects.
www.autistica.org.uk/our-research/research-projects

[Accessed 13 March 2020]

[4] Gillberg C. The ESSENCE in child psychiatry: early symptomatic syndromes eliciting neurodevelopmental clinical examinations. Res. Dev. Disabil. 31(6), 1543−1551 (2010).

[5] Embracing Complexity. Embracing complexity: towards new approaches for people with neurodevelopmental conditions (2019).
http://embracingcomplexity.org.uk/assets/documents/Autistica-Embracing-Complexity-Report-Final.pdf
[Accessed 13 March 2020]

[6] Brett D, Warnell F, McConachie H, Parr JR. Factors affecting age at ASD diagnosis in the UK: no evidence that diagnosis age has decreased between 2004 and 2014. J. Autism Dev. Disord. 46(6), 1974–1984 (2016).

[7] The Academy of Medical Sciences (2018). Advancing research to tackle multimorbidity: the UK and LMIC perspectives.
https://mrc.ukri.org/documents/pdf/report-from-multimorbidity-workshop-2018/
[Accessed 13 March]

[8] The BMJ Opinion. Planning for multimorbidity – did the NHS long term plan go far enough? https://blogs.bmj.com/bmj/2019/01/23/planning-for-multimorbidity-did-the-nhs-long-term-plan-go-far-enough/
[Accessed 13 March 2020]

[9] Whitty CJM, MacEwen C, Goddard A et al. Rising to the challenge of multimorbidity. Br. Med. J. 368, 16964 (2020).

[10] Siugzdaite R, Bathelt J, Holmes J, Astle DE. Transdiagnostic brain mapping in developmental disorders. Curr. Biol. doi:10.1016/j.cub.2020.01.078 (2020).

[11] Lukmanji S, Manji SA, Kahhim S, Wirrel EC, Kwon C. The co-occurrence of epilepsy and autism: a systematic review. Epilepsy Behav. 98(Pt A), 238–248 (2019).

[12] Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bölte S. Premature mortality in autism spectrum disorder. Br. J. Psychiatry 207(5), 232–238 (2016).

[13] Sansa G, Carlson C, Doyle W et al. Medically refractory epilepsy in autism. Epilepsia 52(6), 1071–1075 (2011).

[14] Healx. Autism and comorbid epilepsy: translation ready report. (2017, unpublished)

[15] Embracing Complexity (2019).
https://embracingcomplexity.org.uk
[Accessed 13 March]

[16] Embracing Complexity. Embracing complexity in diagnosis: multi-diagnostic pathways for neurodevelopmental conditions (2019).
http://embracingcomplexity.org.uk/assets/documents/Embracing-Complexity-in-Diagnosis.pdf
[Accessed 13 March]

[17] Epilepsy Research UK. ERUK & Autistica announce joint fellowship (2019).
https://epilepsyresearch.org.uk/eruk-autistica-announce-joint-fellowship/
[Accessed 13 March]

[18] Epilepsy Research UK. ERUK and Young Epilepsy announce research collaboration (2020).
https://epilepsyresearch.org.uk/eruk-young-epilepsy-fellowship/
[Accessed 13 March]

[19] Emerging Minds (2019).
https://emergingminds.org.uk
[Accessed 13 March]

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