Pubmed du 24/01/23

Pubmed du jour

1. Elbeltagi R, Al-Beltagi M, Saeed NK, Alhawamdeh R. Play therapy in children with autism: Its role, implications, and limitations. World J Clin Pediatr;2023 (Jan 9);12(1):1-22.

Play is a pleasurable physical or mental activity that enhances the child’s skills involving negotiation abilities, problem-solving, manual dexterity, sharing, decision-making, and working in a group. Play affects all the brain’s areas, structures, and functions. Children with autism have adaptive behavior, adaptive response, and social interaction limitations. This review explores the different applications of play therapy in helping children with autism disorder. Play is usually significantly impaired in children with autism. Play therapy is mainly intended to help children to honor their unique mental abilities and developmental levels. The main aim of play therapy is to prevent or solve psychosocial difficulties and achieve optimal child-healthy growth and development. Play therapy helps children with autism to engage in play activities of their interest and choice to express themselves in the most comfortable ways. It changes their way of self-expression from unwanted behaviors to more non-injurious expressive behavior using toys or activities of their choice as their words. Play therapy also helps those children to experience feeling out various interaction styles. Every child with autism is unique and responds differently. Therefore, different types of intervention, like play therapy, could fit the differences in children with autism. Proper evaluation of the child is mandatory to evaluate which type fits the child more than the others. This narrative review revised the different types of play therapy that could fit children with autism in an evidence-based way. Despite weak evidence, play therapy still has potential benefits for patients and their families.

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2. Koevoet D, Deschamps PKH, Kenemans JL. Catecholaminergic and cholinergic neuromodulation in autism spectrum disorder: A comparison to attention-deficit hyperactivity disorder. Front Neurosci;2022;16:1078586.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by social impairments and restricted, repetitive behaviors. Treatment of ASD is notoriously difficult and might benefit from identification of underlying mechanisms that overlap with those disturbed in other developmental disorders, for which treatment options are more obvious. One example of the latter is attention-deficit hyperactivity disorder (ADHD), given the efficacy of especially stimulants in treatment of ADHD. Deficiencies in catecholaminergic systems [dopamine (DA), norepinephrine (NE)] in ADHD are obvious targets for stimulant treatment. Recent findings suggest that dysfunction in catecholaminergic systems may also be a factor in at least a subgroup of ASD. In this review we scrutinize the evidence for catecholaminergic mechanisms underlying ASD symptoms, and also include in this analysis a third classic ascending arousing system, the acetylcholinergic (ACh) network. We complement this with a comprehensive review of DA-, NE-, and ACh-targeted interventions in ASD, and an exploratory search for potential treatment-response predictors (biomarkers) in ASD, genetically or otherwise. Based on this review and analysis we propose that (1) stimulant treatment may be a viable option for an ASD subcategory, possibly defined by genetic subtyping; (2) cerebellar dysfunction is pronounced for a relatively small ADHD subgroup but much more common in ASD and in both cases may point toward NE- or ACh-directed intervention; (3) deficiency of the cortical salience network is sizable in subgroups of both disorders, and biomarkers such as eye blink rate and pupillometric data may predict the efficacy of targeting this underlying deficiency via DA, NE, or ACh in both ASD and ADHD.

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3. Naicker VV, Bury SM, Hedley D. Factors associated with parental resolution of a child’s autism diagnosis: A systematic review. Front Psychiatry;2022;13:1079371.

BACKGROUND: Receiving a child’s autism diagnosis can be stressful; as such, parent resolution contributes to the wellbeing and development of healthy parent-child relationships. In other significant childhood diagnoses (e.g., cerebral palsy, diabetes), the degree to which parents adjust to (a) their child’s diagnosis and (b) their changes in expectations concerning their child’s development and capacity (referred to as resolution to diagnosis), has been associated with improved outcomes including facilitating parent-child relationships and improved parental wellbeing. Given potential benefits to parent and child, and the heterogenous nature of autism, examining the unique factors associated with resolution to diagnosis is important. In this systematic review we identified factors that support or inhibit parental resolution to their child receiving a diagnosis of autism. METHODS: We completed a systematic review following PRISMA guidelines of peer-reviewed studies from 2017 to 2022, that investigated parental resolution or acceptance of an autism diagnosis. Papers including « acceptance » needed to encompass both accepting the diagnosis and the implications regarding the child’s abilities. We searched six databases (Scopus, Web of Science, MEDLINE, PsycINFO, ProQuest), with additional papers located following review of reference lists. RESULTS: Fourteen papers with 592 participants that investigated parental resolution or acceptance of an autism diagnosis, were included. We identified six common factors that facilitate or inhibit parental resolution and acceptance of an autism diagnosis including: symptom severity; religion, belief, and culture; knowledge and uncertainty; negative emotions (i.e., denial, shame, guilt); positive emotions; and support. Greater resolution was associated with improved « attunement and insightfulness » in the parent-child relationship. LIMITATION: The review was limited by the small number of studies meeting inclusion criteria. Second, the quality of included studies was mixed, with over half of the studies being qualitative and only one randomized control trial (RCT) identified. CONCLUSION: Parental resolution can have an impact on parent’s perception of their child’s capabilities and impact the parent-child relationship. We identified six categories that aid in inhibiting or promoting resolution to diagnosis. Despite taking a broad approach on the definition of resolution, the low number of studies identified in the review indicates a need for more research in this area. SYSTEMATIC REVIEW REGISTRATION: http://www.crd.york.ac.uk/PROSPERO/, PROSPERO [ID: CRD42022336283].

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4. Sharma V, Choudhury SP, Kumar S, Nikolajeff F. Saliva based diagnostic methodologies for a fast track detection of autism spectrum disorder: A mini-review. Front Neurosci;2022;16:893251.

Autism spectrum disorder (ASD) is considered a complicated neurodevelopment disorder with rising prevalence globally. ASD is characterized by a series of events including varying degrees of defects in communication, learning, and social interaction which is accompanied by stereotypical behavioral patterns. Despite extensive research, the current diagnosis for ASD is complex and almost solely based on the behavioral assessments of the suspected individuals. The multifactorial etiopathology of this disease along with the diversity of symptoms among different individuals adds to the current intricacies for accurate prognosis of ASD. Hence, there exists a dire need for biologically relevant biomarkers for an early diagnosis and for tracking the efficacy of therapeutic interventions. Until recently, among various biofluids, saliva has gained increasing interest for biomarker identification, the advantages include the non-invasive nature and ease of sample handling. This mini-review aims to provide a succinct summary of recent literature on saliva-based diagnostic modalities for ASD, examine various studies that highlight the potential use of proteomic and/or RNA-based biomarkers. Finally, some conclusive perspectives of using the salivary system for ASD mechanistic details and diagnosis are also discussed.

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5. Willemsen R, Kooy RF. Mouse models of fragile X-related disorders. Dis Model Mech;2023 (Feb 1);16(2)

The fragile X-related disorders are an important group of hereditary disorders that are caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by mutations in the coding sequence of this gene. Two categories of pathological CGG repeats are associated with these disorders, full mutation alleles and shorter premutation alleles. Individuals with full mutation alleles develop fragile X syndrome, which causes autism and intellectual disability, whereas those with premutation alleles, which have shorter CGG expansions, can develop fragile X-associated tremor/ataxia syndrome, a progressive neurodegenerative disease. Thus, fragile X-related disorders can manifest as neurodegenerative or neurodevelopmental disorders, depending on the size of the repeat expansion. Here, we review mouse models of fragile X-related disorders and discuss how they have informed our understanding of neurodegenerative and neurodevelopmental disorders. We also assess the translational value of these models for developing rational targeted therapies for intellectual disability and autism disorders.

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