Parents of children with ‘profound autism’ report a struggle to have medics investigate health issues that blight their children’s lives. Dr Ben Marlow argues that the medical world should acknowledge them and treat their health needs.
Autism can mean different things to different people. How we interpret its meaning as an individual, parent, medical professional or therapist can vary significantly, reflecting the heterogeneity of phenotype (the diversity of observable traits) within this broad diagnostic term.
From a medical perspective, I see children in my paediatric clinic who stand out with the greatest medical need. ‘Non-verbal’ or ‘preverbal’ children with extreme sensory difficulties or problems with interoception (the feeling of knowing what is happening in your body) tend to experience a plethora of medical challenges that can make their lives extremely challenging. The medical challenges these children face also have a tremendous impact on learning and quality of life.
Let us not forget that the average life expectancy for autistic individuals with significant learning impairment is 39.5 years1. This figure is widely unknown among the medical and research community, especially as perception is increasingly skewed by modern media2. According to The Lancet Commission on the future of care and clinical research in autism: “The media have … focused much of their attention on the growing proportion of autistic people without an intellectual disability. Children and adults with autism and severe and profound intellectual disability have vastly different educational and long-term care needs that cannot be properly planned for if these individuals are not identified.”2 If this population of children is not identified and highlighted, then their medical needs can’t be screened for or adequately treated.
They will be lost within an increasing number of children diagnosed on the autistic spectrum, a large proportion of whom will not require any specialist medical intervention.
The Commission’s report goes on to say that individuals who are minimally verbal or non-verbal “are not able to advocate for themselves and rely on family members to communicate their needs to policy makers, the media, medical professionals, and the scientific community. They and their families are at risk of being marginalised by a focus on more able individuals.2
Profound autism
Therefore, I welcome The Lancet Commission on the future of care and clinical research in autism (2021) in its use of the term ‘profound autism’.2 It says: “The Commission proposes that the designation of profound autism be adopted as an administrative term to apply to children and adults with autism who have, or are likely to have as adults, the following functional needs: requiring 24 h access to an adult who can care for them if concerns arise, being unable to be left completely alone in a residence, and not being able to take care of basic daily adaptive needs. In most cases, these needs will be associated with a substantial intellectual disability, very limited language (eg, limited ability to communicate to a stranger using comprehensible sentences), or both.”2 In my NHS clinic, the expectation people have of me is to discharge children once they are diagnosed on the autism spectrum. For the subgroup of children with ‘profound autism’ I don’t do this, as I know the importance of trying to manage the medical challenges these children face. Recognising ‘profound autism’ will enable the medical community to better prioritise services, and commissioners to better fund them.
Yet, for me, this is only the start to having autism better characterised in terms of underlying biology or ‘pathophysiology’. The reality is that there are many types of autism: syndromic, genetic and immune-related3 and many within these groups will have different developmental trajectories. Some will, unfortunately, show little development (static) and some children will actually regress in developmental milestones.
Diagnostic overshadowing
My son is now eight years old and fits the criteria for ‘profound autism’; we have found autism is a label that diagnostically overshadows all the other medical issues he experiences, especially as a younger child.
Children like my son are not receiving early access to medical care or investigation that may have a positive impact on their medical difficulties and actually afford an improvement in development and quality of life.
A ‘diagnosis and discharge’ model doesn’t serve these children well. Research has shown there is an increased number of co-occurring conditions with ‘profound autism’: gastro-oesophageal reflux disease (GORD), gastric dysmotility, poor immune function, metabolic fragility, and an increased risk of seizures3. These can all impact on health, learning and happiness.
Not all diversity is good
In years to come, we will look back at the medical management of children with ‘profound’ autism’ with confusion. Immunologists and neurometabolic specialists will view our time as a ‘dark age’ – reflecting on the lack of research, lack of pre-emptive medical management and an area of medicine mired in politics.
We are all diverse – but not all diversity is good. With some diversity comes pain, suffering and early mortality. Why shouldn’t that be acknowledged, researched and help provided? If the early path to this is recognising the term ‘profound autism’, at least it’s a start.
As alluded to in my previous article in Autism Eye, for some children with ‘profound autism’ the signs and symptoms they exhibit resemble those of a neurodegenerative or ‘Alzheimer’s’ presentation. There is cognitive clouding with regression, yet with tantalising windows of lucidity. Yet Alzheimer’s is not celebrated.
It has been extensively investigated and prioritised in terms of clinical and research funding for the past few decades. Even so, only now are treatments starting to emerge, reinforcing just how far behind research into ‘profound autism’ remains.
The reality is, in the future for some children, their current label of ‘profound autism’ will be replaced by a more logical and biological construct that better defines their brain development and underlying medical condition.
It will be a diagnosis that affords such individuals access to treatment: ways to enable their learning to improve, pain and systemic medical issues to be ameliorated, and their happiness in life to be increased.
REFERENCES
1Hirvikoski T, Mittendorfer-Rutz E, Boman M, Larsson H, Lichtenstein P, Bölte S: ‘Premature mortality in autism spectrum disorder’, Br J Psychiatry, 2016 Mar;208(3):232-8. doi: 10.1192/bjp.bp.114.160192. Epub 2015 Nov 5. PMID: 26541693. https://pubmed.ncbi.nlm.nih.gov/26541693/
2Lord C, Charman T, Havdahl A, Carbone P, Anagnostou E, Boyd B, Carr T, de Vries PJ, Dissanayake C, Divan G, Freitag CM, Gotelli MM, Kasari C, Knapp M, Mundy P, Plank A, Scahill L, Servili C, Shattuck P, Simonoff E, Singer AT, Slonims V, Wang PP, Ysrraelit MC, Jellett R, Pickles A, Cusack J, Howlin P, Szatmari P, Holbrook A, Toolan C, McCauley JB. The Lancet Commission on the future of care and clinical research in autism. Lancet. 2022 Jan 15;399(10321):271-334. doi: 10.1016/S0140-6736(21)01541-5. Epub 2021 Dec 6. Erratum in: Lancet. 2022 Dec 3;400(10367):1926. PMID: 34883054. https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(21)01541-5.pdf
3Sala R, Amet L, Blagojevic-Stokic N, Shattock P, Whiteley P: ‘Bridging the Gap Between Physical Health and Autism Spectrum Disorder’, Neuropsychiatr Dis Treat. 2020 Jun 30;16:1605-1618. doi: 10.2147/NDT.S251394. PMID: 32636630; PMCID: PMC7335278. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335278/