1. Ben Natan M, Igbarin H, Watted A. Mothers’ satisfaction with emergency care when their child has an autism spectrum disorder. Journal of pediatric nursing. 2023; 74: 35-40.

PURPOSE: This study aimed to examine factors identified by mothers as affecting their satisfaction with the care provided to their children in the Emergency Department (ED), among mothers of children with autistic spectrum disorder (ASD) in comparison to mothers of children without ASD. DESIGN AND METHODS: In this correlational quantitative study, 128 Israeli mothers – 59 (46%) mothers of children with ASD and 69 (54%) of children without ASD – completed an online survey based on a Ministry of Health national survey of patient experience. RESULTS: Mothers of children with ASD expressed lower satisfaction with the care provided. The difference was particularly evident concerning waiting times for examination of the child by nurses and physicians in the ED, whether the nurses were attentive and responsive to the mother’s questions and concerns, whether the ED staff demonstrated coordination and cooperation with regard to medical care of the child, and whether work in the ED was conducted in an orderly and organized manner. The presence of communication difficulties in children predicted mothers’ satisfaction with care. CONCLUSIONS: These findings suggest that certain needs of mothers and/or their children with ASD do not receive an appropriate response in the ED. PRACTICE IMPLICATIONS: It is important to raise the awareness of healthcare providers in EDs regarding the needs of children with ASD and their parents, especially children with communication difficulties. Strategies should be implemented to improve the experience of children with ASD and their parents in the ED.

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2. Benachenhou S, Laroui A, Dionne O, Rojas D, Toupin A, Çaku A. Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders. International review of neurobiology. 2023; 173: 115-39.

Neurodevelopmental disorders (NDDs) are a group of etiologically diverse diseases primarily associated with abnormal brain development, impaired cognition, and various behavioral problems. The majority of NDDs present a wide range of clinical phenotypes while sharing distinct cellular and biochemical alterations. Low plasma cholesterol levels have been reported in a subset of NNDs including, autism spectrum disorder (ASD) and fragile X syndrome (FXS). The present review focuses on cholesterol metabolism and discusses the current evidence of lipid disruption in ASD, FXS, and other genetically related NDDs. The characterization of these common deficits might provide valuable insights into their underlying physiopathology and help identify potential therapeutic targets.

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3. Chang H, Wang X, Liu Y, Li Q, Xue J. Comment on « Dietary pattern in autism increases the need for probiotic supplementation: A comprehensive narrative and systematic review on oxidative stress hypothesis ». Clinical nutrition (Edinburgh, Scotland). 2023.

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4. Corti S, Cavagnola R, Carnevali D, Leoni M, Francesco F, Galli L, Alzani L, Michelini G, Miselli G, Chiodelli G. The Life Project of People with Autism and Intellectual Disability: Investigating Personal Preferences and Values to Enhance Self-Determination. Psychiatria Danubina. 2023; 35(Suppl 3): 17-23.

People with autism and intellectual disabilities, much like individuals with typical development, share a fundamental right and aspiration to realise their own life projects. However, this natural pursuit is uniquely challenging for individuals with autism and intellectual disabilities due to their communication and adaptive hurdles. This growing need has prompted the development of a specific procedure for crafting life projects geared toward enhancing their quality of life. In the present work, we will describe the six key steps and the corresponding assessment, support, and verification tools essential for establishing and actualising the life project for individuals with disabilities, as conceptualised by the Italian Society of Neurodevelopmental Disorders (SIDIN). We will start by delineating diverse preference and value assessment procedures, showcasing an array of tools tailored to accommodate the distinct characteristics of adaptive and communicative functioning in individuals with disabilities. Following this, we will provide a succinct overview of support needs assessment tools. Subsequently, we will introduce the Ecological Life Balance, which serves as an integrative tool for harmonising various assessment systems. We will propose methods for defining existential goals that prioritise quality of life and suggest strategies for implementing support plans. Lastly, we will delve into the methodologies for monitoring and verifying outcomes in the final section.

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5. Ford RM, McLean T. Self-processing and social functioning in autistic preschoolers. The British journal of developmental psychology. 2023.

There is evidence of weak self-processing in autism spectrum disorder (ASD), including diminished self-reference effects (SREs) in memory. Because smaller SREs in older ASD children and adults are sometimes associated with worse social functioning, we examined this relation for the first time in ASD preschoolers (n = 21). Following a self-performed task, children completed tests of self/other source memory, verbal ability, imitation and mentalizing. Although the ASD children were outperformed on the socio-cognitive measures by non-autistic preschoolers (n = 20), they still showed a significant SRE. Moreover, the SRE, but not the socio-cognitive variables, was a significant predictor of children’s social functioning as rated by parents. Larger SREs were linked with better social functioning, while children with stronger autism traits showed no memory advantage for information encoded self-referentially. These findings support previous research showing that self-processing impairments in ASD are mainly apparent for individuals with greater social difficulties.

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6. Mosconi MW, Stevens CJ, Unruh KE, Shafer R, Elison JT. Endophenotype trait domains for advancing gene discovery in autism spectrum disorder. Journal of neurodevelopmental disorders. 2023; 15(1): 41.

Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD. To address similar challenges, separate fields of medicine have identified endophenotypes, or discrete, quantitative traits that reflect genetic likelihood for a particular clinical condition and leveraged the study of these traits to map polygenic mechanisms and advance more personalized therapeutic strategies for complex diseases. Endophenotypes represent a distinct class of biomarkers useful for understanding genetic contributions to psychiatric and developmental disorders because they are embedded within the causal chain between genotype and clinical phenotype, and they are more proximal to the action of the gene(s) than behavioral traits. Despite their demonstrated power for guiding new understanding of complex genetic structures of clinical conditions, few endophenotypes associated with ASD have been identified and integrated into family genetic studies. In this review, we argue that advancing knowledge of the complex pathogenic processes that contribute to ASD can be accelerated by refocusing attention toward identifying endophenotypic traits reflective of inherited mechanisms. This pivot requires renewed emphasis on study designs with measurement of familial co-variation including infant sibling studies, family trio and quad designs, and analysis of monozygotic and dizygotic twin concordance for select trait dimensions. We also emphasize that clarification of endophenotypic traits necessarily will involve integration of transdiagnostic approaches as candidate traits likely reflect liability for multiple clinical conditions and often are agnostic to diagnostic boundaries. Multiple candidate endophenotypes associated with ASD likelihood are described, and we propose a new focus on the analysis of « endophenotype trait domains » (ETDs), or traits measured across multiple levels (e.g., molecular, cellular, neural system, neuropsychological) along the causal pathway from genes to behavior. To inform our central argument for research efforts toward ETD discovery, we first provide a brief review of the concept of endophenotypes and their application to psychiatry. Next, we highlight key criteria for determining the value of candidate endophenotypes, including unique considerations for the study of ASD. Descriptions of different study designs for assessing endophenotypes in ASD research then are offered, including analysis of how select patterns of results may help prioritize candidate traits in future research. We also present multiple candidate ETDs that collectively cover a breadth of clinical phenomena associated with ASD, including social, language/communication, cognitive control, and sensorimotor processes. These ETDs are described because they represent promising targets for gene discovery related to clinical autistic traits, and they serve as models for analysis of separate candidate domains that may inform understanding of inherited etiological processes associated with ASD as well as overlapping neurodevelopmental disorders.

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7. Napier M, Reynolds K, Scott AL. Glial-mediated dysregulation of neurodevelopment in Fragile X Syndrome. International review of neurobiology. 2023; 173: 187-215.

Astrocytes are highly involved in a multitude of developmental processes that are known to be dysregulated in Fragile X Syndrome. Here, we examine these processes individually and review the roles astrocytes play in contributing to the pathology of this syndrome. As a growing area of interest in the field, new and exciting insight is continually emerging. Understanding these glial-mediated roles is imperative for elucidating the underlying molecular mechanisms at play, not only in Fragile X Syndrome, but also other ASD-related disorders. Understanding these roles will be central to the future development of effective, clinically-relevant treatments of these disorders.

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8. Pavăl D. The dopamine hypothesis of autism spectrum disorder: A comprehensive analysis of the evidence. International review of neurobiology. 2023; 173: 1-42.

Despite intensive research into the etiopathogenesis of autism spectrum disorder (ASD), limited progress has been achieved so far. Among the plethora of models seeking to clarify how ASD arises, a coherent dopaminergic model was lacking until recently. In 2017, we provided a theoretical framework that we designated « the dopamine hypothesis of ASD ». In the meantime, numerous studies yielded empirical evidence for this model. 4 years later, we provided a second version encompassing a refined and reconceptualized framework that accounted for these novel findings. In this chapter, we will review the evidence backing the previous versions of our model and add the most recent developments to the picture. Along these lines, we intend to lay out a comprehensive analysis of the supporting evidence for the dopamine hypothesis of ASD.

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9. Valdovinos MG, Epperson C, Johnson C. A review of the use of psychotropic medication to address challenging behaviour in neurodevelopmental disorders. International review of neurobiology. 2023; 173: 43-65.

Engagement in challenging behaviour (e.g., aggression, self-injury) is reported to occur in neurodevelopmental disorders such as intellectual disabilities (ID), autism spectrum disorder (ASD), and fragile X syndrome (FXS). Common interventions to address these behaviours include both behavioural and pharmacological approaches. Although psychotropic medications are commonly used to address challenging behaviour in ID, ASD, and FXS, demonstration of the effectiveness of treatment is limited. Furthermore, research examining interaction effects between psychotropic medication, challenging behaviour, and environmental events within specific neurodevelopmental disorders such as ID, ASD, and FXS is scarce. The purpose of this chapter is to provide an overview of challenging behaviour within ID, ASD, and FXS and of the effectiveness of psychotropic medication as an intervention for challenging behaviour within these neurodevelopmental disorders. Finally, research examining how psychotropic medication may impact the relationship between challenging behaviour and environmental events is reviewed.

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10. Westmark CJ. Toward an understanding of the role of the exposome on fragile X phenotypes. International review of neurobiology. 2023; 173: 141-70.

Fragile X syndrome (FXS) is the leading known monogenetic cause of autism with an estimated 21-50% of FXS individuals meeting autism diagnostic criteria. A critical gap in medical care for persons with autism is an understanding of how environmental exposures and gene-environment interactions affect disease outcomes. Our research indicates more severe neurological and metabolic outcomes (seizures, autism, increased body weight) in mouse and human models of autism spectrum disorders (ASD) as a function of diet. Thus, early-life exposure to chemicals in the diet could cause or exacerbate disease outcomes. Herein, we review the effects of potential dietary toxins, i.e., soy phytoestrogens, glyphosate, and polychlorinated biphenyls (PCB) in FXS and other autism models. The rationale is that potentially toxic chemicals in the diet, particularly infant formula, could contribute to the development and/or severity of ASD and that further study in this area has potential to improve ASD outcomes through dietary modification.

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11. Zarezadeh M, Mahmoudinezhad M, Hosseini B, Khorraminezhad L, Razaghi M, Alvandi E, Saedisomeolia A. Reply – Letter to the editor: Comment on « Dietary pattern in autism increases the need for probiotic supplementation: A comprehensive narrative and systematic review on oxidative stress hypothesis ». Clinical nutrition (Edinburgh, Scotland). 2023.

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