Pubmed du 28/01/23
1. Keil-Stietz K, Lein PJ. Gene×environment interactions in autism spectrum disorders. Curr Top Dev Biol;2023;152:221-284.
There is credible evidence that environmental factors influence individual risk and/or severity of autism spectrum disorders (hereafter referred to as autism). While it is likely that environmental chemicals contribute to the etiology of autism via multiple mechanisms, identifying specific environmental factors that confer risk for autism and understanding how they contribute to the etiology of autism has been challenging, in part because the influence of environmental chemicals likely varies depending on the genetic substrate of the exposed individual. Current research efforts are focused on elucidating the mechanisms by which environmental chemicals interact with autism genetic susceptibilities to adversely impact neurodevelopment. The goal is to not only generate insights regarding the pathophysiology of autism, but also inform the development of screening platforms to identify specific environmental factors and gene×environment (G×E) interactions that modify autism risk. Data from such studies are needed to support development of intervention strategies for mitigating the burden of this neurodevelopmental condition on individuals, their families and society. In this review, we discuss environmental chemicals identified as putative autism risk factors and proposed mechanisms by which G×E interactions influence autism risk and/or severity using polychlorinated biphenyls (PCBs) as an example.
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2. Lin J, de Rezende VL, de Aguiar da Costa M, de Oliveira J, Gonçalves CL. Cholesterol metabolism pathway in autism spectrum disorder: From animal models to clinical observations. Pharmacol Biochem Behav;2023 (Jan 28);223:173522.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by a persistent impairment of social skills, including aspects of perception, interpretation, and response, combined with restricted and repetitive behavior. ASD is a complex and multifactorial condition, and its etiology could be attributed to genetic and environmental factors. Despite numerous clinical and experimental studies, no etiological factor, biomarker, and specific model of transmission have been consistently associated with ASD. However, an imbalance in cholesterol levels has been observed in many patients, more specifically, a condition of hypocholesterolemia, which seems to be shared between ASD and ASD-related genetic syndromes such as fragile X syndrome (FXS), Rett syndrome (RS), and Smith- Lemli-Opitz (SLO). Furthermore, it is known that alterations in cholesterol levels lead to neuroinflammation, oxidative stress, impaired myelination and synaptogenesis. Thus, the aim of this review is to discuss the cholesterol metabolic pathways in the ASD context, as well as in genetic syndromes related to ASD, through clinical observations and animal models. In fact, SLO, FXS, and RS patients display early behavioral markers of ASD followed by cholesterol disturbances. Several studies have demonstrated the role of cholesterol in psychiatric conditions and how its levels modulate brain neurodevelopment. This review suggests an important relationship between ASD pathology and cholesterol metabolism impairment; thus, some strategies could be raised – at clinical and pre-clinical levels – to explore whether cholesterol metabolism disturbance has a generally adverse effect in exacerbating the symptoms of ASD patients.
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3. Salmeh A, Al-Saadi M, AlZaidi N, Al Hamwi N, Jumaah SS, Karimzadeh S, Dhafer T, Al-Rubaiay W, Al-Rawi N. Influence of parental knowledge and attitudes on the oral and dental health status of autistic children: A systematic review. Spec Care Dentist;2023 (Jan 27)
AIMS: This paper aims to systematically review the current evidence surrounding the influence of parental knowledge and attitudes on the oral and dental health status of autistic children. METHODS AND RESULTS: Data were sourced from EBSCOhost, ProQuest One Academic, Ovid MEDLINE, and Scopus. Additional records were manually identified through other sources. Literature search identified 610 relevant articles for screening, of which nine were ultimately selected for inclusion following full-text review. A custom data collection sheet was constructed by the authors to extract data based on selected parameters addressing the focused research question. Extracted data were combined in an evidence table based on the collection sheet parameters. Study characteristics and findings were then descriptively summarized and compared. Due to heterogenicity, meta-analysis was not viable. While all included cross-sectional studies have predominantly shown no statistically significant association between parental knowledge and oral health, three experimental studies have conversely reported significant oral health improvements following educational interventions; suggesting a strong correlation. CONCLUSION: Autistic children are susceptible to oral diseases, necessitating parental attention. Current evidence regarding this topic is limited and conflicting. The present systematic review faces limitations: included studies were few and predominantly cross-sectional. Moreover, study samples were small, predominantly male, conveniently recruited, and geographically limited. This paper serves as a foundation to guide future research and inspire oral health education and wellness promotion programs.
