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.
“Autistic people scored the same on Care (i.e., concern for others) as typical people”
Recent research out of Cambridge, UK adds further weight to the idea that ‘issues with empathy’ commonly associated with a diagnosis of autism spectrum disorder (ASD) don’t necessarily translate into issues with ‘concern for others’. Looking at the topic of moral foundations, and specifically something called ‘Moral Foundations Theory (MFT)’ in the context of autism, researchers quizzed over 300 people, all with a formal diagnosis of autism, about their hypothetical moral judgements alongside other measures of empathy compared with asymptomatic control participant responses. They observed that sweeping statements about ‘lacking empathy’ have much nuance when applied to autism; perhaps requiring separation of different types of empathy: affective empathy (the ability to share feelings) vs. cognitive empathy (recognizing and understanding the mental state of others). Various other differences in responses between autistic and non-autistic participants were reported including moves to prioritizing fairness over care and a few subtle differences in relation to libertarian politics and views. Authors, however, concluded most of the group differences were small and that, on balance, the two groups were probably more similar than different in their moral foundations.
American Academy of Neurology backs concerns over valproate link to autism
New updated practice guidance published by the American Academy of Neurology (AAN) has specifically instructed clinicians to avoid use of valproic acid (valproate) to people with epilepsy of childbearing potential “if clinically feasible” on grounds of a potential link to autism. Over 80 articles were reviewed, covering a multitude of different topics around the potential teratogenicity - “substances that can cause structural or functional changes in a fetus or child” - of several antiepileptic compounds, including listing autism as a childhood outcome. Valproic acid was specifically singled out on the basis of the multiple studies reviewed, with several lines of evidence pointing to a link between valproate exposure in-utero and subsequent heightened risk of offspring autism. Authors accepted that for some, valproate is a potentially life-saving medicine in controlling epilepsy and seizure-type disorders. But they also could not avoid the increasingly strong evidence noting a link with offspring autism and other related outcomes. They also suggest that clinicians ensure that folic acid supplementation is provided to those taking anti-seizure medicines when pregnant with the aim to “possibly improve neurodevelopmental outcomes such as ASD and global IQ in the offspring.” Any readers impacted by this study are strongly advised to contact their medical physician for further advice.
Uncertainty or intolerance of uncertainty plays a big role in anxiety accompanying autism
Accepting that autism has a profound influence on many aspects of life, various over- represented comorbidities like depression and anxiety can sometimes be just as disabling to autistic people. It’s not unexpected then that screening for anxiety is a priority for many, and in particular, the development of screening tools that fully encapsulate the autistic experience of such issues. To this end, researchers from the UK recently discussed some of the properties of one such instrument: The Anxiety Scale for Autism-Adults (ASA-A). Among their findings on sex and diagnostic differences and similarities for the ASA-A, an important detail was observed: “Uncertainty was the highest scoring factor for autistic participants.” This is not the first time that uncertainty or ‘intolerance of uncertainty’ has been shown to be a major driving factor in the experience of anxiety in the context of autism. Indeed, many other studies have arrived at similar findings based on this feature. What’s particularly interesting is that uncertainty didn’t seem to be a big issue for non-autistic participants and their experience of anxiety, suggesting that there may be autism-specific strategies to think about in order to successfully treat such anxiety arising from uncertainty.
Antibiotic exposure was and wasn’t linked to offspring autism risk?
A large study out of South Korea has come to a slightly confusing conclusion on the question of whether antibiotic use during pregnancy and/or early infancy might show a connection to various neurodevelopmental disorders including autism. Confusing because although authors concluded that overall antibiotic use didn’t seem to be associated with an increased risk of autism or intellectual or language disorder, there was nuance in the findings based on timing of antibiotic exposure, what type of antibiotic was used and length of antibiotic use. Insurance records for over 1.5 million children were inspected as part of the study, taking into account multiple potentially confounding variables including sibling history of said neurodevelopmental disorders. The risk of epilepsy was identified as being heightened (an over-represented comorbidity following autism) when controlling for familial factors. The risk of autism was also heightened for infants aged 0-2 months taking antibiotics for more than 15 days. Similar findings were not noted for intellectual disability or language disorder. While one has to be slightly careful with such ‘association’ studies, the findings do lend support to the idea that the gut microbiome may show some relationship to the onset and perpetuation of biological systems onward to future receipt of a diagnosis of autism.
Gut and immune system issues seem to follow autistic traits (mirroring that seen in clinical autism)
Drawing on data from over 35,000 adults aged 18 years and over, where various questions about autistic traits and somatic (body) health were answered, higher levels of autistic traits seemed to be linked to various immune and gut-related issues. So said recent findings from the Netherlands, adding to what has been previously reported in relation to such issues being present in those diagnosed with autism. Drawing on data collected as part of the Lifelines Cohort Study, an initiative looking at population health and wellbeing, researchers quantified autistic traits using the Adult Social Behavior Questionnaire (ASBQ) alongside collecting other information on the presence of gastrointestinal (GI) issues, pain, fatigue and food allergy. Aside from concluding that male participants typically had higher autistic scores than females, a sort of ‘autism dose’ relationship was observed when looking at somatic issues: “higher autistic symptom scores were associated with more somatic problems”. Sex differences were also observed across the autism-somatic issues relationships, notably in relation to pain and fatigue scores. Allowing for the self-report nature of the study, authors conclude that a greater appreciation of somatic issues occurring alongside autism and those with elevated autistic traits is warranted.
And finally…
Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism
An interesting case report reminds us that there are seemingly many different paths towards a diagnosis of autism. In this N=1 report, the issue of autism accompanying an inborn error of metabolism (IEM) [a genetic mutation that leads to a difference in how the body processes the many compounds of life] is discussed, and specifically “D2HGA type 1 resulting from D2HGDH deficiency” (D-2-hydroxyglutaric aciduria, a metabolic condition characterized by increased concentration of L-2-hydroxyglutaric acid in body). D2HGA type 1 is a progressive condition that can include seizures, hypotonia and developmental delay. In this particular case, assessment consisted of urine testing first which identified a marked increase in 2-hydroxyglutaric acid, followed by genetic testing. This is but one example of how multiple IEMs can manifest as both a clinical diagnosis of autism or include multiple autistic features as part of their presentation. It reminds us of the power of screening in the context that receipt of an autism diagnosis should be a starting point, not the finishing line.
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