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"Research Roundup" June 2021 Edition

  • Jennifer Philips
  • Jun 30, 2021
  • 3 min read

Autism researcher, Paul Whiteley, brings you the latest and most relevant research in autism. This month's issue highlights epigenetics, metabolism and sleep issues.


Gene expression issues in autism highlight immunity issues

Analysis of gene expression patterns in a small group of adults with autism revealed a pattern of changes relevant to disruption of the immune system according to new findings from Japan. Looking at the activity of over 11,000 genes, 200 were found to be significantly up- or down-regulated in an autism group compared to controls. Looking at the known functions of these genes led researchers to conclude that both innate and adaptive immunity are connected to autism, in line with many other research findings. 


Horiuchi F, Yoshino Y, Kumon H, Hosokawa R, Nakachi K, Kawabe K, Iga JI, Ueno SI. Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder. J Neuroinflammation. 2021 Apr 30;18(1):102. 


An epigenetically distinct subgroup in autism?

Over and above the genetic code everyone is born with, there exist various other systems which control gene function including the process of gene methylation. Gathered under the discipline of “epigenetics”, a study out of a group in Toronto, Canada historically focused on looking for genetic coding anomalies in ASD recently looked at methylation patterns in autism. Methylation refers to “tags” which can be acquired or inherited, and reported finding “an epigenetically unique subset of ASD cases”. Analysis of the sites in the genome where methylation can occur (CpG sites) showed overlap with known autism-related genes pertinent to immune and inflammatory responses. These results suggest that alterations in immune response in ASD can arise from both inborn genetic changes and also non-inherited sources.


Jangjoo M, Goodman SJ, Choufani S, Trost B, Scherer SW, Kelley E, Ayub M, Nicolson R, Georgiades S, Crosbie J, Schachar R, Anagnostou E, Grunebaum E, Weksberg R. An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition. Front Neurol. 2021 Apr 16;12:612817. 


Potential biomarkers discovered in urine of children with autism

Analysis of urine samples from over a hundred children with autism compared with a similar sized group of non-autistic children revealed a pattern of compounds that could eventually be used as biomarkers for the diagnosis. So said new research findings from China which, using sophisticated analytical methods, revealed that a number of compounds including various amino acids were different between the ASD and control groups. Alongside, levels of an important marker of urine concentration, creatinine, were found to be significantly lower in the ASD group, with potential implications for previous research which may have used this compound to correct for urine concentration.


Ma Yu, Zhou Hao, Li Chunpei, Zou Xiaobing, Luo Xuerong, Wu Lijie, Li Tingyu, Chen Xiang, Mao Meng, Huang Yi, Li Erzhen, An Yanpeng, Zhang Lili, Wang Tianqi, Xu Xiu, Yan Weili, Jiang Yonghui, Wang Yi. Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics Analysis. Front Psychiatry. 2021 May 11;12:624767



How to treat sleep problems in autism: insights from adults with autism

Most autistic adults aren’t satisfied with the options they’re provided with for tackling their sleep problems. That was the key message from a study from University College London, where nearly 300 adults with autism were quizzed about their experiences of treating sleep issues. Worryingly, although sleep problems are commonly known to occur alongside a diagnosis of autism, over half of  the study participants reported no contact with a healthcare professional to discuss their sleeping issues. Various strategies for tackling sleep issues alongside autism are available. Melatonin for example, has proved to be an excellent evidence-based treatment option.


Halstead E, Sullivan E, Zambelli Z, Ellis JG, Dimitriou D. The treatment of sleep problems in autistic adults in the United Kingdom. Autism. 2021 May 9:13623613211007226.



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