Research Roundup is a monthly newsletter from N of One’s UK-based science writer, Paul Whiteley, PhD. Each month we summarize a few research papers on a variety of topics in one simple, easy-to-read paragraph. It’s our hope that by skimming these each month, you will broaden your knowledge topics currently being explored by researchers and perhaps find information helpful in your journey of navigating a complex autism landscape.
How prevalent is "profound autism?"
“The prevalence of profound autism varied widely across the six samples—from 11% to 48%.” So said a recent article looking at the frequency of the relatively new concept of profound autism, defined by the US CDC in 2023 as being if someone is autistic and “nonverbal… minimally verbal, or had an intelligence quotient <50.” Researchers from the US and Argentina undertook analysis of the prevalence of autism and the ‘experience’ of profound autism from a parent/caregiver perspective. Their prevalence estimates, while wide and using slightly different criteria, average out roughly in line with the CDC figure of 26% indicating how widespread this classification is. Additional questioning of a small number of parents about their child’s experience of profound autism also revealed two primary themes: family support and advocacy challenges and community perceptions of autism, leading researchers to discuss how important stigma might be to those who fit into the profound autism category. While there continue to be mixed feelings in the community around the definition of profound autism, the need to tailor support to individuals (and their carers) is an important message, especially for those with high dependency and support needs.
“Autism-like” and autoimmune encephalitis: a case report with “complete recovery after immunotherapy”
In the context that there are various known causes of ASD or autistic-like symptoms for some people relating to exposure to various viral and bacterial pathogens, an interesting case report out of the Republic of South Korea adds to this literature. Detailing the experiences of a 15-year old girl admitted to hospital with an array of symptoms including “visual hallucinations, disorganized speech, and abnormal behavior” some of which met, but were not fully consistent with autism, researchers detailed her clinical journey of testing and treatment. Intervention eventually culminated with immunotherapy consisting of intravenous immunoglobulin (IVIg), rituximab and tocilizumab which successfully treated her cognitive and behavioral symptoms, leading her doctors to conclude that “her syndrome derived from inflammation or neural system activation mediated by autoantibodies.” Such work provides some potentially important lessons on how immune system features can affect behavior, as well as a roadmap to greater screening for such conditions in the context of for example, rapid onset of autistic signs and symptoms accompanied by other psychiatric features. Whether such immunotherapies may also be useful for specific ‘types’ of autism is an avenue of great interest that requires further exploration.
[note from J. Rodakis – immune system induced autism may be far more common than realized. For a fascinating similar story involving schizophrenia see: www.washingtonpost.com/wellness/2023/06/01/schizophrenia-autoimmune- lupus-psychiatry/]
Intervention for irritability in autism: risperidone and aripiprazole come out top
A multi-country collaborative review of research looking at interventions for irritability accompanying ASD has concluded that risperidone and aripiprazole are currently the most effective medicines for such behaviors. Among 60 scientific articles on this topic including over 3000 participants, researchers looked for evidence of effects from both pharmacological and non-pharmacological intervention options. Including data pertinent to the certainty of the evidence produced, risperidone and aripiprazole came top, with some potential signals also reported for adjuvant (add-on) therapy coinciding with these medicines including use of sulforaphane, memantine and minocycline. Parent training strategies, as a non-pharmacological intervention, also showed a favorable result but the certainty of evidence was only classed as moderate in that particular case. What this and other data suggest is that there are multiple, viable options for tackling such challenging behaviors with the need for more study on modes of actions, best responders and where such interventions could be improved in terms of safety and efficacy. The review was not also able to include data from the recent trial of CM-AT, a pancreatic replacement therapy, which has recently passed further controlled trials on efficacy for irritability in young children with autism and is currently seeking US FDA fast-track approval.
[note from J. Rodakis: While they may be the "best" pharmaco agents available at this time, that's probably more a function of having a scarcity of options due to a of poor understanding of the ASD, not to mention these drugs come with significant side effects. We are working for a future where a better biological understanding of the condition leads to safer and more efficacious treatments.]
A causal relationship between atopic dermatitis (eczema) and autism?
Analyzing genome-wide association data from over 850,000 people using a statistical technique called bidirectional two-sample Mendelian randomization, researchers in China recently observed a potentially important link between atopic dermatitis (AD) and autism spectrum disorder (ASD). Said relationship was noted as ‘causal’ by study authors implying that the presence of AD, an inflammatory skin condition, induces a heightened risk for ASD. Researchers utilized Mendelian randomization - where genetic information is used to estimate the causal effect of an exposure on an outcome - on an existing European ancestry database looking at AD. Their results were robust insofar as also minimizing the effects from various potentially confounding variables such as sex, the presence of other atopic diseases and more. Given the large number of participants included and the strength of the various statistical methods used, such work adds significant weight to the idea that autism and immune functions (including inflammatory immune functions) appear to intersect. Onwards, the requirement for further analyses and intervention around aberrant immune functions, and how it influences the course of autism are warranted. And a related study suggests the common treatment of AD accompanying autism via use of skin creams, might need some creative thinking in the context of tactile (touch) hypersensitivity.
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