Pubmed du 04/05/25
1. Kirk E, Mundy L, Lee E, Lundie B, Laing N, Archibald AD, Newson AJ, Mina K, Carpenter K, Neas K, King R, Ferrie M, Lunke S, Boughtwood T, Delatycki MB, Emery J, Mountain H, Hui L, Dive L, Farrar MA, Massie J. Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy. Pathology;2025 (Mar 26)
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2. Kildahl AN, Langjord T, Pedersen G, Hove O, Urnes Ø, Torgersen T, Eikenæs IHU, Kvarstein EH. Screening for autism in psychiatric inpatients with severe self-harm – results from the Extreme Challenges research project. Nord J Psychiatry;2025 (May 4):1-11.
PURPOSE: Living with undiagnosed autism may have negative consequences for mental health, including increased risk of self-harm and suicidal behaviours. Autism is currently underdiagnosed in adult females. While severe self-harm is associated with complex psychopathologies, it is often assumed to signify the presence of borderline personality disorder, and underlying autism may not be recognised. The purpose of the current study was to explore the prevalence of diagnosed autism, as well as the prevalence of being screen positive for autism and its clinical correlates, in a clinical sample of inpatients with severe self-harm. MATERIALS AND METHODS: In a national multisite project comprising 12 hospitals, 42 patients (40 female, 2 male; age >18) with frequent (≥ 5) or long (≥ 4 weeks) inpatient admissions due to self-harm during the last year were recruited for a cross-sectional study. The Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R) was used to screen for autism. RESULTS: Four participants, all female, were diagnosed with autism. When applying different cut-off criteria for the RAADS-R, even the strictest cut-off resulted in a considerably higher proportion of the sample being screen positive for autism. Participants with higher scores on the RAADS-R reported more anxiety, depressive, and trauma-related symptoms, as well as poorer functioning across measures of personality, close relationships, emotion regulation and alexithymia. CONCLUSIONS: These findings highlight the importance of actively screening for and assessing autism in patients with severe self-harm. Undiagnosed autism may involve a risk that unhelpful interactions with the mental health care system exacerbate these patients’ difficulties over time.
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3. Rosales MR, Butera CD, Wilson RB, Zhou J, Maus E, Zhao H, Chow JC, Dao A, Freeman J, Dusing SC. Systematic Review and Meta-Analysis of the Effect of Motor Intervention on Cognition, Communication, and Social Interaction in Children with Autism Spectrum Disorder. Phys Occup Ther Pediatr;2025 (May 4):1-23.
AIMS: Conduct a systematic review and meta-analysis on the effects of motor intervention on social, communication, and cognitive skills in individuals (0-21 years) with autism spectrum disorder (ASD). METHODS: Seven databases were used to search for randomized control trials (RCT) implementing a motor intervention for children with ASD; and measured social, communication, and cognitive outcomes. Twenty-three RCTs were selected with 66 outcomes and 636 participants (range of mean age: 4.3 - 12.3 years). RESULTS: Motor interventions had a significant, positive effect on (1) all outcomes combined (i.e. social, communication, and cognitive) (SSMD: 0.41, p = .01), (2) social (SSMD: 0.46, p = .012) and (3) combined social/communication (SSMD: 0.47, p = .01) domains, but not for the motor domain (SSMD: 0.45, p = .25) or cognitive domain alone (SSMD: 0.22, p = .18). In children above age nine, a 1-year increase in age corresponded to a 0.29 decrease in SSMD (less effective). CONCLUSIONS: Motor interventions have a positive impact and should be considered when planning interventions for children with ASD.
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4. Bo J, Shen B, Pang Y, Shen J, Lasutschinkow P, Dillahunt A. Do the enhanced errors impact visuomotor adaptation in children with autism spectrum disorder?. Exp Brain Res;2025 (May 4);243(6):135.
Children with autism spectrum disorders (ASD) often exhibit challenges with visuomotor adaptation. This study explored whether enlarged visual error feedback could enhance motor adaptability in children with and without ASD. Thirty-five children, ages 6 to 10, completed two center-out computerized adaptation tasks. In these tasks, the visual feedback of their hand movement error was provided in either a regular (gain = 1:1) or enhanced (gain = 1:2) ratio. Results indicated that children with ASD had reduced visuomotor adaptability compared to their peers during the regular feedback task. However, in the enhanced feedback task, children with ASD showed positive after-effects on a key motor planning measure, implying that they might be capable of adapting to visual distortions. Despite this, the lack of significant differences between the tasks suggests that while enhanced visual feedback may offer some benefits, it is unlikely to fully offset the compromised visuomotor adaptability. Meanwhile, the ASD group demonstrated an association between fine motor skills and visuomotor adaptability during the regular task. Further approaches beyond enhancing visual feedback need to be explored for a better understanding of the mechanisms behind kinematic adaptation in ASD.
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5. Ahmadian P, Cardy RE, De Luca G, Kushki A. Usability of an augmented reality bedtime routine application for autistic children. Assist Technol;2025 (May 4);37(3):175-184.
Sleep problems are highly prevalent in autism and negatively impact the physical and mental health of children and their caregivers. Sleep education programs are often recommended as a first line-treatment to help parents implement healthy sleeping habits and a bedtime routine at home; however, the accompanying paper-based toolkits used in the bedtime routines have limitations related to engagement and adherence. To address these gaps, we iteratively developed and tested the usability of an augmented reality (AR) bedtime routine application. Our single participant design study (n = 7 child/parent dyads) found 86% compliance with the program and suggested good-excellent usability of the app with a trend toward increased willingness and faster completion of children’s bedtime routines. This work supports the feasibility of using technology-based tools in sleep education programs and informs future clinical studies examining the effectiveness of these approaches for mitigating sleep difficulties.
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6. Tadas M, Wankhede N, Chandurkar P, Kotagale N, Umekar M, Katariya R, Waghade A, Kokare D, Taksande B. Postnatal propionic acid exposure disrupts hippocampal agmatine homeostasis leading to social deficits and cognitive impairment in autism spectrum disorder-like phenotype in rats. Pharmacol Biochem Behav;2025 (May 1):174030.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by a range of symptoms including impaired social interaction and cognitive deficits. Although the exact pathogenesis of ASD is not well established, recent clinical findings suggest a decline in levels of biogenic amine agmatine in autistic patients. The present study was designed to investigate the impact of postnatal propionic acid (PPA) exposure on hippocampal agmatine homeostasis in male rat pups and to explore a new therapeutic intervention for ASD using agmatine as a biological target. PPA is commonly used in experimental models of ASD due to its ability to induce social deficits, cognitive impairments, and stereotyped behaviors, which closely resemble key characteristics of ASD. Male rat pups were administered with PPA via the intrahippocampal route bilaterally (25 μg/0.25 μl per side) on PND-21 to simulate the ASD phenotype, and its subsequent effect on the endogenous agmatinergic system. The influence of agmatine treatment and its endogenous modulation on ASD-like phenotypes was also investigated. Behavioral assessments revealed that PPA exposure reduced sociability and social preference, caused learning and memory impairment in the Morris water maze, increased anxiety-like behavior in the elevated plus maze, and reduced exploratory behavior in the hole board test. Neurochemical analyses showed a decrease in agmatine concentration and an increase in its degrading enzyme agmatinase in the hippocampus. PPA treatment altered the content of GABA, glutamate, TNF-α, IL-6, BDNF, and also resulted in increased astrogliosis and neurotoxicity within the hippocampus. Chronic agmatine treatment and its endogenous modulation ameliorated the behavioral and biochemical disruptions induced by PPA exposure. This study highlights the critical role of hippocampal agmatinergic pathway in the etiopathogenesis of ASD, positioning agmatine as a promising therapeutic target for its treatment.
