Pubmed du 07/11/23

Pubmed du jour

1. Anderson KA, Roux AM, Rast JE, Garfield T, Shea L. Low-income households of children with autism and the economic safety net. Academic pediatrics. 2023.

OBJECTIVE: This paper examines the distribution, parameters, and determinants of safety net program use among a nationally representative sample of low-income children with autism spectrum disorder (ASD). METHODS: We used data from the 2021 National Survey of Children’s Health to produce population estimates of material hardship and safety net program use among 554 low-income households of children with ASD, ages 3-17 years, relative to 2,831 children with other special healthcare needs (SHCN) and 8,758 children with no SHCN of the same age. Design-adjusted multivariate logistic regression models identified predictors of cash assistance, SNAP, and disconnection from both. RESULTS: There were few significant differences in material hardship between children with ASD and those with other SHCN, although children with ASD experienced significantly higher levels of hardships compared to children with no SHCN. Having a child with ASD did not significantly increase the odds of safety net use. Health insurance and household income were stronger predictors of use than disability. Nine percent of disconnected children lived in households under 100% FPL and experienced some type of material hardship. CONCLUSIONS: Future research about the economic security of children with ASD and their families could focus on the following three areas of inquiry: assess how race, ethnicity or socioeconomic position interact with disability to influence safety net program use; examine the intersection between Medicaid and safety net programs at the state- and national levels; and identify specific subgroups of children at risk for disconnection and understand why they are not accessing benefits.

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2. Burki T. Making adjustments: diabetes and developmental disability. The lancet Diabetes & endocrinology. 2023.

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3. He S, Zhou F, Tian G, Cui Y, Yan Y. Effect of Anesthesia During Pregnancy, Delivery, and Childhood on Autism Spectrum Disorder: A Systematic Review and Meta-analysis. Journal of autism and developmental disorders. 2023.

To investigate the association between exposure to anesthesia during three periods of pregnancy, delivery, and childhood and autism spectrum disorder (ASD). PubMed, Scopus, Web of Science, Embase, Google Scholar, PsycArticles, and PsycINFO were searched from the date of database inception to 1 December 2022. Studies reported the association between exposure to anesthesia during pregnancy, delivery, and childhood and ASD were included. Extracted variables included hazard ratio (HR), relative risk or odds ratio, standard error, and 95% confidence interval (CI). Effect estimates were pooled using random-effects meta-analysis. In total, 16 studies including 8,156,608 individuals were included in the meta-analysis. Labor epidural anesthesia during delivery was associated with ASD in the general population (adjusted HR = 1.16, 95% CI, 1.06-1.28) but not in the sibling population (adjusted HR = 1.06, 95% CI, 0.98-1.15). Other anesthesia during delivery was not associated with ASD (general population: adjusted HR = 1.08, 95% CI, 0.99-1.17; sibling population: adjusted HR = 1.20, 95% CI, 0.81-1.79). Three studies suggested that exposure to anesthesia during pregnancy was associated with ASD in offspring (adjusted HR = 2.15, 95% CI, 1.32-3.48). There was no significant association between exposure to general anesthesia during childhood and ASD (adjusted HR = 1.02, 95% CI, 0.60-1.72). This meta-analysis did not confirm the association between exposure to anesthesia during labour and ASD. Previous observational studies used the neurotoxicity of anesthesia to biologically explain significant associations, but in fact different controls for confounding factors led to differences in associations. The evidence for pregnancy and childhood was limited given the small number of studies in these periods.

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4. Hough D, Mao AR, Aman M, Lozano R, Smith-Hicks C, Martinez-Cerdeno V, Derby M, Rome Z, Malan N, Findling RL. Randomized clinical trial of low dose suramin intravenous infusions for treatment of autism spectrum disorder. Annals of general psychiatry. 2023; 22(1): 45.

BACKGROUND: There is a critical need for effective treatment of the core symptoms of autism spectrum disorder (ASD). The purinergic antagonist suramin may improve core symptoms through restoration of normal mitochondrial function and reduction of neuro-inflammation via its known antagonism of P2X and P2Y receptors. Nonclinical studies in fragile X knockout mice and the maternal immune activation model support these hypotheses. METHODS: We conducted a 14 week, randomized, double-blind, placebo-controlled proof -of-concept study (N = 52) to test the efficacy and safety of suramin intravenous infusions in boys aged 4-15 years with moderate to severe ASD. The study had 3 treatment arms: 10 mg/kg suramin, 20 mg/kg suramin, and placebo given at baseline, week 4, and week 8. The Aberrant Behavior Checklist of Core Symptoms (ABC-Core) (subscales 2, 3, and 5) was the primary endpoint and the Clinical Global Impressions-Improvement (CGI-I) was a secondary endpoint. RESULTS: Forty-four subjects completed the study. The 10 mg/kg suramin group showed a greater, but statistically non-significant, numeric improvement (- 12.5 ± 3.18 [mean ± SE]) vs. placebo (- 8.9 ± 2.86) in ABC-Core at Week 14. The 20 mg/kg suramin group did not show improvement over placebo. In exploratory analyses, the 10 mg/kg arm showed greater ABC Core differences from placebo in younger subjects and among those with less severe symptoms. In CGI-I, the 10 mg/kg arm showed a statistically significant improvement from baseline (2.8 ± 0.30 [mean ± SE]) compared to placebo (1.7 ± 0.27) (p = 0.016). The 20 mg/kg arm had a 2.0 ± 0.28 improvement in CGI-I, which was not statistically significant compared to placebo (p = 0.65). CONCLUSION: Suramin was generally safe and well tolerated over 14 weeks; most adverse events were mild to moderate in severity. Trial Registration Registered with the South African Health Authority, registration number DOH-27-0419-6116. CLINICALTRIALS: Gov registration ID is NCT06058962, last update posted 2023-09-28.

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5. Jones Severino Vasconcelos QD, Silva Frederico MJ, Sousa Alves R, Jesus Pinheiro Gomes Bandeira T, Amaral de Moraes ME, Aragão GF. Effects of whey protein supplementation on gut microbiota of Wistar rats with valproic acid-induced autism symptoms. Future microbiology. 2023.

Aim: To evaluate the effects of whey protein (WP) supplementation (1.24 mg/g, 24 days) in rats with autism spectrum disorder (ASD) induced by valproic acid (400 mg/kg, single dose). Materials & methods: Wistar rats (14 days old) were divided into four groups: control, ASD, ASD plus WP and WP. Results: WP increased bacterial diversity and the number of colonies. Bacteria from the Firmicutes phylum were predominantly found in the supplemented groups (p < 0.05). WP also improved the animals' memory in the Y-maze test and decreased the time that male animals spent in the 'solitary chamber' (p < 0.05). Conclusion: WP supplementation positively influenced gut microbiota, along with memory. Thousands of bacteria live in the human intestine. These bacteria help with many functions in the body and are so important that they can communicate with the brain. When the types and abundance of these bacteria change, brain activity can also change. This may be the case in some children with autism spectrum disorder (ASD), who may have an increase in harmful types of bacteria and a decrease in beneficial types of bacteria in the gut. Whey protein is a commonly used protein supplement for muscle growth. However, many studies have shown its benefits for gut bacteria. The authors investigated the effects of whey protein in animals with symptoms of ASD and showed that supplementation with whey protein increased the number of beneficial bacteria. In addition, the rats given whey protein had better memory. ASD-induced rats were less sociable, spending more time by themselves. However, male animals treated with whey protein spent less time alone. Supplementation with whey protein was beneficial for gut bacteria and memory in rats. eng.

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6. Montero-Vázquez RA. [Síndrome de fiebre periódica, adenitis, faringitis y aftosis en un preescolar con síndrome de Asperger: reporte de caso]. Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993). 2023; 70(4): 200.

BACKGROUND: Autoinflammatory diseases are a heterogeneous group of pathologies whose prevalence is undefined to date. Within these, the Periodic Fever Syndrome, Adenitis, Pharyngitis and Aphthosis (PFAPA) is determined as the most common and the most studied. Neurodevelopmental and behavioral disor- ders, including those of the Autism Spectrum, are especially prevalent in patients with allergic and autoimmune diseases, however, there is little documented regarding their relationship with autoinflammation. CASE REPORT: The case of a patient with Asperger Syndrome with subsequent onset of this autoinflammatory disease is shown. Two weekly blood counts and complete serum immunoglobulins are obtained, which do not show a decrease in neutrophil counts or sublevels or supralevels in immunoglobulins. CONCLUSION: When he returned to his follow-up appointment, he reported a feverish peak 2 days before, which ceased with the administration of the steroid, and if there was presence of oral ulcers on this occasion, fulfilling the modified Marshall criteria. Likewise, a great change is noted in their development and cooper- ation in exploration. The duality of this autoinflammatory syndrome in a patient with Asperger Syndrome is determined.

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7. Nagase K. The Association of Autistic Traits on Cognitive Emotion Regulation Strategies in a Non-clinical Sample. Psychological reports. 2023: 332941231214172.

Individuals with high autistic traits have difficulty in regulating their negative emotions. However, few studies clarify the relationship between autistic traits and cognitive emotion regulation strategies. This study examined the association between adaptive and maladaptive strategies in cognitive emotion regulation and autistic traits using a non-clinical sample. Two hundred and thirty-four participants completed the Japanese version of the Social Responsiveness Scale-2 (Adult Self-Report version) and the Japanese version of the Cognitive Emotion Regulation Questionnaire. The results showed that autistic traits were negatively associated with the use of adaptive subordinate strategies for cognitive emotion regulation. By contrast, autistic traits were positively associated with the use of maladaptive subordinate strategies of cognitive emotion regulation. The cognitive and emotional characteristics of autism spectrum disorder, such as perspective taking and executive function, contextualize these results. These findings can help guide not only our understanding of the relationship between autistic traits and cognitive emotion regulation but also develop interventions aimed at facilitating the use of adaptive cognitive emotion regulation strategies and preventing the use of maladapted strategies in individuals with high autistic traits.

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8. Orlando B, Morano A, Manzini V, Cerulli Irelli E, Borioni MS, Veroni C, Salamone EM, D’Amelio C, Moliterni E, Giustini S, Ruffolo G, Arisi I, D’Onofrio M, Giallonardo AT, Piscopo P, Di Bonaventura C. Plasma Biomarker Profile and Clinical Correlations in Adult Patients With Tuberous Sclerosis Complex. Neurology. 2023; 101(19): e1933-e8.

OBJECTIVES: Different pathophysiologic mechanisms, especially involving astrocytes, could contribute to tuberous sclerosis complex (TSC). We assessed neurodegeneration and astrocytopathy plasma biomarkers in adult patients with TSC to define TSC biomarker profile and investigate clinical-radiologic correlations. METHODS: Patients with TSC aged 15 years or older followed at Policlinico « Umberto I » of Rome were consecutively enrolled (July 2021-June 2022). The plasma levels of the following biomarkers were compared between patients and age/sex-matched healthy controls (HCs): tTau, pTau181, Abeta(40), Abeta(42), neurofilament light chain, and glial fibrillary acid protein (GFAP). RESULTS: Thirty-one patients (20 females/11 males; median age 30 years, interquartile range 24-47) and 38 HCs were enrolled. Only GFAP was significantly higher in the whole TSC population than in HCs (132.71 [86.14-231.06] vs 44.80 [32.87-66.76] pg/mL, p < 0.001), regardless of genotype. GFAP correlated with the disease clinical (ρ = 0.498, p = 0.005) and radiologic severity (ρ = 0.417, p = 0.001). It was significantly higher in patients with epileptic spasms (254.50 [137.54-432.96] vs 86.92 [47.09-112.76] pg/mL, p < 0.0001), moderate-severe intellectual disability (200.80 [78.40-427.6] vs 105.08 [46.80-152.58] pg/mL, p = 0.040), and autism spectrum disorder (306.26 [159.07-584.47] vs 109.34 [72.56-152.08] pg/mL, p = 0.021). DISCUSSION: Our exploratory study documented a significant increase of GFAP plasma concentration in adult patients with TSC, correlated with their neurologic severity, supporting the central role of astrocytopathy in TSC pathophysiology.

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9. Rum Y, Golan O, Allison C, Smith P, White SR, Baron-Cohen S. Does Having a Sibling Affect Autistic People’s Empathy?. Journal of autism and developmental disorders. 2023.

This study examined whether autistic people with siblings score higher on measures of empathy than those without siblings. Cohorts of autistic children (n = 939; mean age = 7.35 years (SD = 2.15)) and autistic adults (n = 736; mean age = 37 years (SD = 12.39)) from the Cambridge Autism Research Database (CARD) were each divided into two groups: with or without siblings. Empathy was measured using the children version of the Empathy Quotient (EQ) (parent-report) for children. For adults, the EQ (self-report version) and the Reading the Mind in the Eyes Test (RMET) were used. Contrary to the hypothesis, autistic children without siblings scored higher on EQ than those with siblings (t((283.70)) = 4.20, p < .001; d = 0.50). In adults, there was no difference between autistic adults with and without siblings on both measures, but there was an interaction effect between sex and group on the RMET (f((1732)) = 4.10, p = 0.04): whilst autistic males without siblings on average scored lower than females, autistic males with siblings on average performed similarly to females. Future research should investigate the possible effect of siblings on autistic males' empathy performance in a larger cohort of autistic individuals. Children's empathic abilities may be underestimated by their parents when they have siblings due to a contrast effect.

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10. Santinele Martino A, Moumos E, Ulicki N, Robbins M. The Experiences of 2SLGBTQ+ Adults Labeled with Intellectual and/or Developmental Disabilities When Navigating Mainstream Queer Social Spaces. Journal of homosexuality. 2023: 1-20.

Drawing on interviews with 31 2SLGBTQ+ people labeled with developmental and/or intellectual disabilities, this exploratory study focuses on participants’ experiences navigating mainstream queer social spaces. The current study is an explorative qualitative view at the intersection of the 2SLGBTQ+ and disability community. There is a call for more inclusive spaces for people with disabilities within queer social areas. Although queer spaces attempt to be free and inclusive, many have inaccessible activities and locations. The findings depict that individuals with lived experiences are not often represented in the 2SLGBTQ+ community due to a lack of inclusion. Participants highlighted feelings of rejection as people with disabilities were not represented in many 2SLGBTQ+ focused groups or organizations. The current paper calls attention to creating more inclusive intersectional spaces to promote inclusivity and ensure people with disabilities have the opportunity to contribute through an active role in the 2SLGBTQ+ community.

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11. Wang T, Chen B, Luo M, Xie L, Lu M, Lu X, Zhang S, Wei L, Zhou X, Yao B, Wang H, Xu D. Microbiota-indole 3-propionic acid-brain axis mediates abnormal synaptic pruning of hippocampal microglia and susceptibility to ASD in IUGR offspring. Microbiome. 2023; 11(1): 245.

BACKGROUND: Autism spectrum disorder (ASD) has been associated with intrauterine growth restriction (IUGR), but the underlying mechanisms are unclear. RESULTS: We found that the IUGR rat model induced by prenatal caffeine exposure (PCE) showed ASD-like symptoms, accompanied by altered gut microbiota and reduced production of indole 3-propionic acid (IPA), a microbiota-specific metabolite and a ligand of aryl hydrocarbon receptor (AHR). IUGR children also had a reduced serum IPA level consistent with the animal model. We demonstrated that the dysregulated IPA/AHR/NF-κB signaling caused by disturbed gut microbiota mediated the hippocampal microglia hyperactivation and neuronal synapse over-pruning in the PCE-induced IUGR rats. Moreover, postnatal IPA supplementation restored the ASD-like symptoms and the underlying hippocampal lesions in the IUGR rats. CONCLUSIONS: This study suggests that the microbiota-IPA-brain axis regulates ASD susceptibility in PCE-induced IUGR offspring, and supplementation of microbiota-derived IPA might be a promising interventional strategy for ASD with a fetal origin. Video Abstract.

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12. Yang X, Dekker L, Greaves-Lord K, Crehan ET. Psychometric Properties of Psychosexual Functioning Survey Among Autistic and Non-autistic Adults: Adapting the Self-Report Teen Transition Inventory to the U.S. Context. Journal of autism and developmental disorders. 2023.

Psychosexual functioning is an important aspect of human development and relationships. A previous study investigated psychosexual functioning of autistic adolescents using the Teen Transition Inventory (TTI), but there is a lack of comprehensive measurement of psychosexual functioning among autistic and non-autistic (NA) adults. To address this gap, the current study adapted the self-report TTI to the Psychosexual Functioning Survey (PSFS) and presented it to 131 autistic (n = 59) and NA adults (n = 72) in the U.S. Comparisons of psychometric properties between the original TTI and the PSFS are shared; the developmental relevancy among some items was changed, and the alphas indicated a difference in the content of certain scales. Differences emerged between autistic and NA adults in both the intra- and interpersonal domains of psychosexual functioning, but not in sexual and intimate behaviors. The findings suggest the persistence of differences from adolescence to adulthood between autistic and NA people and highlight the importance of understanding the unique experiences of adults in psychosexual functioning relative to diagnostic status.

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13. Zhao S, Jiang X, Han L, Jiang Y, Wang Y, Meng J, Zhu X, Zhang X, Luo H, Zhang YW. Tau reduction attenuates autism-like features in Fmr1 knockout mice. Molecular autism. 2023; 14(1): 42.

BACKGROUND: Fragile X syndrome (FXS) is a leading cause of autism spectrum disorder (ASD) and resulted from a loss of the FMR1-encoded fragile X messenger ribonucleoprotein 1 (FMRP) protein due to large CGG repeat expansions in the promoter region of the FMR1 gene. The microtubule-associated protein Tau is a promising target for Tauopathic diseases and our preliminary study found that Tau protein levels were increased in the brain of Fmr1 knockout (KO) mice, a model of FXS. However, whether Tau reduction can prevent autism-like features in Fmr1 KO mice and become a novel strategy for FXS treatment remain unknown. METHODS: Tau was genetically reduced in Fmr1 KO mice through crossing Fmr1(±) female mice with Mapt(±) male mice. The male offspring with different genotypes were subjected to various autism-related behavioral tests, RNA sequencing, and biochemical analysis. Fmr1 KO male mice were treated with Tau-targeting antisense oligonucleotide (ASO) and then subjected to behavioral tests and biochemical analysis. RESULTS: Tau expression was increased in the cortex of Fmr1 KO mice. Genetically reducing Tau prevented social defects, stereotyped and repetitive behavior, and spine abnormality in Fmr1 KO mice. Tau reduction also reversed increased periodic activity and partially rescued Per1 expression reduction in Fmr1 KO mice. Moreover, Tau reduction reversed compromised P38/MAPK signaling in Fmr1 KO mice. Finally, Tau-targeting ASO also effectively alleviated autism-like phenotypes and promoted P38/MAPK signaling in Fmr1 KO mice. LIMITATIONS: Our study is limited to male mice, in agreement with the higher incidence of FXS in males than females. Whether Tau reduction also exerts protection in females deserves further scrutiny. Moreover, although Tau reduction rescues impaired P38/MAPK signaling in Fmr1 KO mice, whether this is the responsible molecular mechanism requires further determination. CONCLUSION: Our data indicate that Tau reduction prevents autism-like phenotypes in Fmr1 KO mice. Tau may become a new target for FXS treatment.

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