Pubmed du 16/02/23
1. Collis R. A response to Singer, Lutz, Escher, and Halladay’s « a full semantic toolbox is essential for autism research and practice to thrive » in Autism Research (published online 12 Dec 2022). Autism research : official journal of the International Society for Autism Research. 2023.
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2. Finn M, Flower RL, Leong HM, Hedley D. ‘If I’m just me, I doubt I’d get the job’: A qualitative exploration of autistic people’s experiences in job interviews. Autism : the international journal of research and practice. 2023: 13623613231153480.
When applying for a job, autistic job candidates are likely to face a number of challenges. Job interviews are one of these challenges – they require communicating and relationship-building with unfamiliar people and involve expectations about behaviour (that may vary between companies and are not made clear to job candidates). Given autistic people communicate differently to non-autistic people, autistic job candidates may be disadvantaged in the interview process. Autistic candidates may not feel comfortable or safe sharing with organisations their autistic identity and may feel pressure to hide any characteristics or behaviour they feel might indicate they are autistic. To explore this issue, we interviewed 10 autistic adults about their job interview experiences in Australia. We analysed the content of the interviews and found three themes that related to the individual person and three themes that related to environmental factors. Participants told us that they engaged in camouflaging behaviour during job interviews, feeling pressure to conceal aspects of themselves. Those who camouflaged during job interviews reported that it took a lot of effort, which resulted in increased stress, anxiety and exhaustion. The autistic adults we spoke to reported a need for inclusive, understanding and accommodating employers to help them feel more comfortable disclosing their autism diagnosis in the job application process. These findings add to current research that has explored camouflaging behaviour and barriers to employment for autistic people.
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3. Hand BN, Hyer JM, Schenk A, Coyne A, Gilmore D, Wang L, Ejaz A. Comparing Kidney Transplant Rates and Outcomes Among Adults With and Without Intellectual and Developmental Disabilities. JAMA surgery. 2023.
IMPORTANCE: Improving equity in organ transplant access for people with intellectual and developmental disabilities (IDD) is a topic of social discourse in mainstream media, state legislation, and national legislation. However, few studies have compared evaluation rates, transplant rates, and outcomes among adults with and without IDD. OBJECTIVE: To compare rates of kidney transplant and transplant-specific outcomes between propensity-score matched groups of adults with end-stage kidney disease (ESKD [also referred to as end-stage renal disease (ESRD)]) with and without co-occurring IDD. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study included all Medicare inpatient and outpatient standard analytical files from 2013 through 2020. A total of 1 413 655 adult Medicare beneficiaries with ESKD were identified. Propensity-score matching was used to balance cohorts based on age, sex, race, follow-up duration, and Charlson Comorbidity Index. The matched cohorts consisted of 21 384 adults with ESKD (10 692 of whom had IDD) and 1258 kidney transplant recipients (629 of whom had IDD). Data were analyzed between June 1, 2022, and August 1, 2022. EXPOSURE: IDD. MAIN OUTCOMES AND MEASURES: Evaluation for kidney transplant, receipt of kidney transplant, perioperative complications, readmission, mortality, graft rejection, and graft failure. RESULTS: Of the 21 384 propensity-score matched adults with ESKD, the median (IQR) age was 55 (43-65) years, 39.2% were male, 27.4% were Black, 64.1% were White, and 8.5% identified as another race or ethnicity. After propensity score matching within the ESKD cohort, 633 patients with IDD (5.9%) received a kidney transplant compared with 1367 of adults without IDD (12.8%). Adults with IDD were 54% less likely than matched peers without IDD to be evaluated for transplant (odds ratio, 0.46; 95% CI, 0.43-0.50) and 62% less likely to receive a kidney transplant (odds ratio, 0.38; 95% CI, 0.34-0.42). Among matched cohorts of kidney transplant recipients, rates of perioperative complications, readmission, and graft failure were similar for adults with and without IDD. CONCLUSIONS AND RELEVANCE: Using the largest cohort of adult kidney transplant recipients with IDD to date, the study team found that rates of evaluation and transplant were lower despite yielding equivalent outcomes. These data support consideration of adults with IDD for kidney transplant and underscore the urgent need for antidiscrimination initiatives to promote the receipt of equitable care for this population.
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4. He Q, Wang Y, Liu Z, Xia J, Yin H, Qiu Z, Wang H, Xu W, Xu Z, Xie J. Analysis of salivary steroid hormones in boys with autism spectrum disorder. BMC psychiatry. 2023; 23(1): 105.
BACKGROUND: Autism spectrum disorders (ASD) is a neurodevelopmental disorder with high incidence rate and difficult diagnosis. The purpose of this study was to explore whether salivary cortisol, dehydroepiandrosterone (DHEA) and pregnenolone can be used as biomarkers of ASD children. METHODS: The saliva samples of 55 boys with ASD were collected as the experimental group, and the saliva samples of 24 neurotypical boys were collected as the control group. The Child Behavior Checklist (CBCL), Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Repetitive Behavior Scale (RBS) were used to assess the severity of symptoms in boys with ASD. Cortisol, DHEA and pregnenolone concentrations in saliva were measured using an ABSSCIEX QTRAP® 6500 + LC/MS/MS system. SPSS 23.0 was used for statistical analysis. Comparisons between the two groups which conform to normal distribution were performed by T-test, and those which don’t conform to normal distribution were performed by Mann-Whitney U test. Correlation analysis between two variables was performed using Spearman’s correlation analysis. Receiver operating characteristic curve (ROC) analysis was performed to evaluate the discriminatory sensitivity of each hormone between ASD and normal control groups. Logistic regression models were used to analyze whether DHEA and salivary pregnenolone can be used as a biomarker of ASD. RESULTS: There were no significant differences in age, and weight between the ASD group and the normal control group. The ABC, SRS, RBS and CBCL scale scores in the ASD group were significantly higher than those in the normal control group. The salivary DHEA and pregnenolone concentrations in the ASD group were significantly higher than those in the normal control group, but there was no significant difference in cortisol. Spearman’s correlation analysis showed that only pregnenolone associated with ABC. Logistic regression model analysis suggested that pregnenolone in saliva was an independent predictor of ASD. ROC analysis found that pregnenolone had good discrimination sensitivity between ASD and normal controls. CONCLUSION: Gave salivary preoperative a space for utilization as biomarker as number of cases are limited to this high expectation.
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5. Hong D, Iakoucheva LM. Therapeutic strategies for autism: targeting three levels of the central dogma of molecular biology. Translational psychiatry. 2023; 13(1): 58.
The past decade has yielded much success in the identification of risk genes for Autism Spectrum Disorder (ASD), with many studies implicating loss-of-function (LoF) mutations within these genes. Despite this, no significant clinical advances have been made so far in the development of therapeutics for ASD. Given the role of LoF mutations in ASD etiology, many of the therapeutics in development are designed to rescue the haploinsufficient effect of genes at the transcriptional, translational, and protein levels. This review will discuss the various therapeutic techniques being developed from each level of the central dogma with examples including: CRISPR activation (CRISPRa) and gene replacement at the DNA level, antisense oligonucleotides (ASOs) at the mRNA level, and small-molecule drugs at the protein level, followed by a review of current delivery methods for these therapeutics. Since central nervous system (CNS) penetrance is of utmost importance for ASD therapeutics, it is especially necessary to evaluate delivery methods that have higher efficiency in crossing the blood-brain barrier (BBB).
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6. Juneja M, Sairam S, Jain R, Gupta A. Practical Aspects of ASD Management-What Pediatricians Should Know. Indian journal of pediatrics. 2023.
The increasing prevalence of autism spectrum disorder (ASD) warrants higher levels of clinical attention to optimally manage children with ASD. There is mounting evidence that early intervention programs can help improve developmental functioning, maladaptive behaviors, and core ASD symptoms. The most thoroughly investigated and evidence-based therapies have been developmental, behavioral, and educational interventions mediated by either professionals or parents. Other commonly available interventions include speech and language therapy, occupational therapy, and social skills training. Pharmacological interventions, where needed, are used as an adjunct to treat severe problem behaviors and manage medical and psychiatric comorbidities. Complementary or alternative medicine (CAM) approaches have not proven to be of any benefit, and some of them may be harmful to the child. As the child’s first point of contact, the pediatrician is well-positioned to effectively guide the families to therapies that are evidence-based and safe and also collaborate with various specialists to provide seamless, coordinated care for these children so as to improve their developmental outcomes and social functioning.
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7. Uddin MN, Mondal T, Yao Y, Manley K, Lawrence DA. Oxidative stress and neuroimmune proteins in a mouse model of autism. Cell stress & chaperones. 2023.
Oxidative stress including decreased antioxidant enzyme activities, elevated lipid peroxidation, and accumulation of advanced glycation end products in the blood from children with autism spectrum disorders (ASD) has been reported. The mechanisms affecting the development of ASD remain unclear; however, toxic environmental exposures leading to oxidative stress have been proposed to play a significant role. The BTBRT(+)Itpr3(tf)/J (BTBR) strain provides a model to investigate the markers of oxidation in a mouse strain exhibiting ASD-like behavioral phenotypes. In the present study, we investigated the level of oxidative stress and its effects on immune cell populations, specifically oxidative stress affecting surface thiols (R-SH), intracellular glutathione (iGSH), and expression of brain biomarkers that may contribute to the development of the ASD-like phenotypes that have been observed and reported in BTBR mice. Lower levels of cell surface R-SH were detected on multiple immune cell subpopulations from blood, spleens, and lymph nodes and for sera R-SH levels of BTBR mice compared to C57BL/6 J (B6) mice. The iGSH levels of immune cell populations were also lower in the BTBR mice. Elevated protein expression of GATA3, TGM2, AhR, EPHX2, TSLP, PTEN, IRE1α, GDF15, and metallothionein in BTBR mice is supportive of an increased level of oxidative stress in BTBR mice and may underpin the pro-inflammatory immune state that has been reported in the BTBR strain. Results of a decreased antioxidant system suggest an important oxidative stress role in the development of the BTBR ASD-like phenotype.
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8. van der Plas E, Mason D, Happé F. Decision-making in autism: A narrative review. Autism : the international journal of research and practice. 2023: 13623613221148010.
Many autistic people report difficulties with real-life decision-making. However, when doing decision-making tests in laboratory experiments, autistic people often perform as well or better than non-autistic people. We review previously published studies on autistic people’s decision-making, across different types of tests, to understand what type of decision-making is more challenging. To do this, we searched four databases of research papers. We found 104 studies that tested, in total, 2712 autistic and 3189 comparison participants on different decision-making tasks. We found that there were four categories of decision-making tests that were used in these experiments: perceptual (e.g. deciding which image has the most dots); reward learning (e.g. learning which deck of cards gives the best reward); metacognition (e.g. knowing how well you perform or what you want); and value-based (e.g. making a decision based on a choice between two outcomes that differ in value to you). Overall, these studies suggest that autistic and comparison participants tend to perform similarly well at perceptual and reward-learning decisions. However, autistic participants tended to decide differently from comparison participants on metacognition and value-based paradigms. This suggests that autistic people might differ from typically developing controls in how they evaluate their own performance and in how they make decisions based on weighing up the subjective value of two different options. We suggest these reflect more general differences in metacognition, thinking about thinking, in autism.
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9. Vibert B, Segura P, Gallagher L, Georgiades S, Pervanidou P, Thurm A, Alexander L, Anagnostou E, Aoki Y, Birken CS, Bishop SL, Boi J, Bravaccio C, Brentani H, Canevini P, Carta A, Charach A, Costantino A, Cost KT, Cravo EA, Crosbie J, Davico C, Donno F, Fujino J, Gabellone A, Geyer CT, Hirota T, Kanne S, Kawashima M, Kelley E, Kim H, Kim YS, Kim SH, Korczak DJ, Lai MC, Margari L, Marzulli L, Masi G, Mazzone L, McGrath J, Monga S, Morosini P, Nakajima S, Narzisi A, Nicolson R, Nikolaidis A, Noda Y, Nowell K, Polizzi M, Portolese J, Riccio MP, Saito M, Schwartz I, Simhal AK, Siracusano M, Sotgiu S, Stroud J, Sumiya F, Tachibana Y, Takahashi N, Takahashi R, Tamon H, Tancredi R, Vitiello B, Zuddas A, Leventhal B, Merikangas K, Milham MP, Di Martino A. CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions. Molecular autism. 2023; 14(1): 7.
BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N = 1275 individuals with ASD/NDD (age = 11.0 ± 3.6 years; n females = 277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis.
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10. Warreman EB, Nooteboom LA, Terry MB, Hoek HW, Leenen P, van Rossum E, Ramlal D, Vermeiren R, Ester WA. Psychological, behavioural and biological factors associated with gastrointestinal symptoms in autistic adults and adults with autistic traits. Autism : the international journal of research and practice. 2023: 13623613231155324.
Little is known about factors related to the increased risk for gastrointestinal symptoms in adults with an autism spectrum disorder (ASD), while the negative impact of gastrointestinal symptoms is evident. Especially, the relationship between gastrointestinal symptoms and psychological, behavioural, and biological risk factors in adults with ASD (traits) is unclear. Autistic peer support workers and autism-advocates also emphasised the importance of identifying risk factors, because of the high prevalence of gastrointestinal problems in people with ASD. Therefore, our study investigated which psychological, behavioural, and biological factors are associated with gastrointestinal symptoms in adults with ASD or with autistic traits. We analysed data from 31,185 adults in the Dutch Lifelines Study. Questionnaires were used to evaluate the presence of an autism spectrum disorder diagnosis, autistic traits, gastrointestinal symptoms, psychological and behavioural factors. Biological factors were examined with body measurements. We found that not only adults with ASD but also adults with higher levels of autistic traits were at increased risk for gastrointestinal symptoms. Adults with ASD who experienced psychological problems (psychiatric problems, worse perceived health, chronic stress) had a higher risk for gastrointestinal symptoms than adults with ASD without these psychological problems. Moreover, adults with higher levels of autistic traits were less physically active, which was also associated with gastrointestinal symptoms. In conclusion, our study highlights the relevance of identifying psychological problems and evaluating physical activity when trying to help adults with ASD or autistic traits and gastrointestinal symptoms. This suggests that healthcare professionals should be more aware of behavioural and psychological risk factors when evaluating gastrointestinal symptoms in adults with ASD (traits).
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11. Zhang N, Wang ST, Yao L. Inhalation of Cananga odorata essential oil relieves anxiety behaviors in autism-like rats via regulation of serotonin and dopamine metabolism. Journal of integrative medicine. 2023.
OBJECTIVE: Anxiety is one of the most common symptoms associated with autistic spectrum disorder. The essential oil of Cananga odorata (Lam.) Hook. f. & Thomson, usually known as ylang-ylang oil (YYO), is often used in aromatherapy as a mood-regulating agent, sedative, or hypotensive agent. In the present study, the effects and mechanisms of YYO in alleviating anxiety, social and cognitive behaviors in autism-like rats were investigated. METHODS: The prenatal valproic acid (VPA) model was used to induce autism-like behaviors in offspring rats. The effectiveness of prenatal sodium valproate treatment (600 mg/kg) on offspring was shown by postnatal growth observation, and negative geotaxis, olfactory discrimination and Morris water maze (MWM) tests. Then three treatment groups were formed with varying exposure to atomized YYO to explore the effects of YYO on the anxiety, social and cognitive behaviors of the autistic-like offspring through the elevated plus-maze test, three-chamber social test, and MWM test. Finally, the monoamine neurotransmitters, including serotonin, dopamine and their metabolites, in the hippocampus and prefrontal cortex (PFC) of the rats were measured using a high-performance liquid chromatography. RESULTS: Offspring of VPA exposure rats showed autism-like behaviors. In the VPA offspring, medium-dose YYO exposure significantly elevated the time and entries into the open arms in the elevated plus-maze test, while low-dose YYO exposure significantly enhanced the social interaction time with the stranger rat in session 1 of the three-chamber social test. VPA offspring treated with YYO exposure used less time to reach the platform in the navigation test of the MWM test. YYO exposure significantly elevated the metabolism of serotonin and dopamine in the PFC of VPA offspring. CONCLUSION: YYO exposure showed the effects in alleviating anxiety and improving cognitive and social abilities in the offspring of VPA exposure rats. The role of YYO was related to the regulation of the metabolism of serotonin and dopamine. Please cite this article as: Zhang N, Wang ST, Yao L. Inhalation of Cananga odorata essential oil relieves anxiety behaviors in autism-like rats via regulation of serotonin and dopamine metabolism. J Integr Med. 2023; Epub ahead of print.