Pubmed du 23/01/23

Pubmed du jour

1. Awadh SM, Yaseen ZM, Al-Suwaiyan MS. The role of environmental trace element toxicants on autism: A medical biogeochemistry perspective. Ecotoxicol Environ Saf;2023 (Feb);251:114561.

Since genetic factors alone cannot explain most cases of Autism, the environmental factors are worth investigating as they play an essential role in the development of some cases of Autism. This research is a review paper that aims to clarify the role of the macro elements (MEs), Trace elements (TEs) and ultra-trace elements (UTEs) on human health if they are greater or less than the normal range. Aluminium (Al), cadmium Cd), lead (Pb), chromium (Cr), zinc (Zn), copper (Cu), nickel (Ni), arsenic (As), mercury (Hg), manganese (Mn), and iron (Fe) have been reviewed. Exposure to toxicants has a chemical effect that may ultimately lead to autism spectrum disorder (ASD). The Cr, As and Al are found in high concentrations in the blood of an autistic child when compared to normal child reference values. The toxic metals, particularly aluminium, are primarily responsible for difficulties in socialization and language skills disabilities. Zinc and copper are important elements in regulating the gene expression of metallothioneins (MTs), and zinc deficiency may be a risk factor for ASD pathogenesis. Autistics frequently have zinc deficiency combined with copper excess; as part of the treatment protocol, it is critical to monitor zinc and copper levels in autistic people, particularly those with zinc deficiency. Zinc deficiency is linked to epileptic seizures, which are common in autistic patients. Higher serum manganese and copper significantly characterize people who have ASD. Autistic children have significantly decreased lead and cadmium in urine, whereas they have significantly higher urine Cr. A higher level of As and Hg was found in the ASD individual’s blood.

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2. Crawley JN. Twenty years of discoveries emerging from mouse models of autism. Neurosci Biobehav Rev;2023 (Jan 20);146:105053.

More than 100 single gene mutations and copy number variants convey risk for autism spectrum disorder. To understand the extent to which each mutation contributes to the trajectory of individual symptoms of autism, molecular genetics laboratories have introduced analogous mutations into the genomes of laboratory mice and other species. Over the past twenty years, behavioral neuroscientists discovered the consequences of mutations in many risk genes for autism in animal models, using assays with face validity to the diagnostic and associated behavioral symptoms of people with autism. Identified behavioral phenotypes complement electrophysiological, neuroanatomical, and biochemical outcome measures in mutant mouse models of autism. This review describes the history of phenotyping assays in genetic mouse models, to evaluate social and repetitive behaviors relevant to the primary diagnostic criteria for autism. Robust phenotypes are currently employed in translational investigations to discover effective therapeutic interventions, representing the future direction of an intensely challenging research field.

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3. Lewis S, Papadopoulos N, Mantilla A, Hiscock H, Whelan M, McGillivray J, Rinehart N. The impact of COVID-19 on sleep for autistic children: A systematic review. Res Autism Spectr Disord;2023 (Apr);102:102110.

BACKGROUND: Up to 80% of children with autism experience behavioural sleep problems, predominantly relating to bedtime resistance, sleep anxiety, sleep dysregulation, and shorter duration, which are associated with increased autistic symptom expression and emotional and behavioural difficulties. Researchers predicted the COVID-19 pandemic would worsen sleep and behavioural difficulties for autistic children, due to their need for routine and certainty. This systematic review is the first to focus on delineating the role of sleep disturbance in exacerbating autistic symptoms and internalising and externalising behaviours during the pandemic. METHOD: In this PROSPERO registered systematic review, we aggregated and synthesised findings from empirical studies from 2020 onwards that included children with autism and examined sleep outcomes, using narrative and framework synthesis due to the variety of methods and designs employed. We identified additional relevant themes through inductive thematic analysis. RESULTS: Seventy-one studies met the search criteria, and we selected seventeen for review following screening and quality assessment. These studies reported mixed findings; with strongest support for worsening of sleep problems typically experienced by autistic children, including difficulties with sleep regulation and shorter sleep duration. Further, sleep problems were associated with increased expression of autistic characteristics. CONCLUSIONS: Preliminary findings of worsening sleep and increased autistic characteristics for autistic children throughout the COVID-19 pandemic highlight the need for ongoing, accessible and flexible service provision during exposure to environmental stressors. We propose that behavioural sleep interventions are well suited to telehealth adaptation and play an important role in supporting families when in-person treatment for sleep problems is not possible.

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