Pubmed du 06/12/24
1. Quality of Medical Care for Adults With Intellectual/Developmental Disabilities. Med Care;2025 (Jan 1);63(1 Suppl 1):i.
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2. Al-Beltagi M. Pre-autism: Advancing early identification and intervention in autism. World J Clin Cases;2024 (Dec 6);12(34):6748-6753.
Autism spectrum disorder (ASD) is often diagnosed long after symptoms have become noticeable. This delay can make it difficult to provide early intervention, which can impact long-term outcomes. The concept of « pre-autism » highlights the phase before a formal diagnosis of ASD, providing an opportunity for earlier identification and intervention, which could be a turning point in ASD management. In a previous article, we explored different ways of diagnosing pre-autism, including historical records, physical markers, laboratory tests, and radiological evidence. This manuscript builds on that foundation by emphasizing the importance of early diagnosis and intervention in ASD. Recent research advancements have clarified that ASD presentations can be complex, and individualized support strategies are necessary. The significance of pre-autism lies in its potential to alter the trajectory of ASD through early detection and intervention despite challenges such as limited awareness and variability in symptom presentation. Biomarkers and diagnostic tools have shown promise as avenues for early detection, but it is essential to exercise caution and not rely too heavily on yet-to-be-established markers. Addressing these challenges requires a collaborative effort to increase awareness, improve access to diagnostic tools, and foster inclusive environments. Ultimately, this manuscript calls for ongoing research, advocacy, and resource allocation to enhance early detection and intervention efforts, ensuring optimal outcomes for individuals on the autism spectrum.
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3. Arora A, Mastropasqua F, Bölte S, Tammimies K. Correction: Urine metabolomic profiles of autism and autistic traits-A twin study. PLoS One;2024;19(12):e0315559.
[This corrects the article DOI: 10.1371/journal.pone.0308224.].
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4. Baby B, Pushpagiri S, Varma PR, Saritha LS, Dhiya SJ, Meera SS, Rekha M, Mohan M, Sundaram S. Broad Autism Phenotype Questionnaire – Translation and Validation in a South Indian Language. Ann Indian Acad Neurol;2024 (Dec 6)
BACKGROUND AND OBJECTIVES: Broad Autism Phenotype (BAP) refers to specific behaviors or minor deficits in social/communication skills not meeting the diagnostic criteria for autism spectrum disorders (ASDs). The BAP Questionnaire (BAPQ) measures aloof personality (AP), rigid personality (RP), and pragmatic language (PL) deficits of BAP. The study objective is to translate and validate BAPQ into Malayalam, a South Indian language, and to establish new cut-off scores for detecting BAP in the Indian population. METHODS: BAPQ was translated into Malayalam (BAPQ-M), following which it was tested for reliability and internal consistency and factor analysis was conducted in 40 parents of ASD and neurotypical children. The receiver operating characteristic curve analysis generated new cut-off scores. RESULTS: The content validity index was ≥ 0.8 for each item. For the self and informant versions, Cronbach’s α was 0.753 and 0.807, respectively, while Spearman’s correlation coefficient was 0.953 (P < 0.001) and 0.918 (P < 0.001). The items demonstrated good communality (0.532-0.870), and on factor rotation, 12 components had eigenvalues > 1, which explained 72.3% of the total variance. The new cut-off scores for total estimate, AP, RP, and PL subscales were 2.60 (sensitivity 0.825; specificity 0.575; odds ratio [OR] 6.38, 95% confidence interval [CI] 2.28-17.84; P < 0.001), 2.60 (sensitivity 0.60; specificity 0.75; OR 4.50, 95% CI 1.73-11.70; P 0.002), 2.90 (sensitivity 0.8; specificity 0.475; OR 3.62, 95% CI 1.342-9.77; P 0.011), and 2.70 (sensitivity 0.5; specificity 0.825; OR 4.71, 95% CI 1.69-13.13; P 0.003), respectively. CONCLUSIONS: BAPQ-M has good psychometric properties for determining the presence of BAP among the people of Kerala, a South Indian state.
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5. Bertelli MO, Boniotti V, Scior K. Is it still autism? The increasing broadening of the autism spectrum. Autism Res;2024 (Dec 5)
Clinical significance of a broad autism phenotype (BAP) seems to be increasingly supported by growing reports of high prevalence of subthreshold autism spectrum disorder (sASD) or autistic traits (AT) in various demographic samples, particularly in individuals with psychiatric conditions. We question this increasing extension of the autism spectrum and its potential negative consequences for clinical services, research, cultural attitudes, and resource allocation, as well as alternative explanations of what is currently attributed to sASD and AT. In modern psychiatry the diagnostic threshold is paramount and associated with a significant impairment of functioning, implying that symptom specificity is more relevant than sensitivity. Within a syndrome, symptoms have to be present together, with the parts related to and interconnected with the whole. Single autism symptomatic dimensions have low syndromic specificity and can be observed in many different mental disorders. For instance, communication problems may present in communication disorders, social-cognitive difficulties can be found in schizophrenia, and rigid and/or repetitive behaviors can be found in obsessive compulsive disorder. One alternative interpretation of AT and/or sASD relates to personality traits. For example, within the Big 5 Model, low openness is associated with a dislike of change and a narrow range of interests, low extraversion with social withdrawal and coldness, and low agreeableness with disinterest in others and disregard for their feelings. These risks of overreliance on non-specific aspects of autism are particularly likely to occur with screening checklists, self-assessment, or assessment by a lay interviewer with only limited expertise in clinical assessment.
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6. Butler MG. Six at Sixty. Commentary on identification of the PTEN gene as a major contributor to autism spectrum disorder. J Med Genet;2024 (Dec 6)
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7. Chan SY, Chuah JSM, Huang P, Tan AP. Social behavior in ASD males: The interplay between cognitive flexibility, working memory, and functional connectivity deviations. Dev Cogn Neurosci;2024 (Nov 25);71:101483.
Autism spectrum disorder (ASD) is highly heterogeneous in presentation. While abnormalities in brain functional connectivity are consistently observed in autistic males, the neurobiological basis underlying the different domains of autism symptoms is unclear. In this study, we evaluated whether individual variations in functional connectivity deviations map to social behavior in ASD males. Using neuroimaging data from the Autism Brain Imaging Data Exchange (ABIDE), we modeled normative trajectories of between-network resting-state functional connectivity (rsFC) in non-ASD males across childhood (n = 321). These normative charts were then applied to ASD males (n = 418) to calculate individual deviation scores (z-scores) that reflect the degree of rsFC atypicality. Deviations in rsFC patterns among the default mode network (DMN), ventral attention network (VAN), frontoparietal network (FPN), and somatomotor network (SMN) were associated with distinct dimensions of social behavior. Cognitive flexibility and working memory mediated the association between VANxDMN z-scores and social behavioral problems. Our findings underscore the potential of normative models to identify atypical brain connectivity at an individual level, revealing the neurobiological patterns associated with social behavioral problems in ASD that are critical for precision diagnosis and intervention. Social outcomes in ASD males may be improved by targeting cognitive flexibility and working memory.
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8. Chandan P, Noonan EJ, Brody KD, Feller C, Lauer E. Innovation in Medical Education on Intellectual/Developmental Disabilities: Report on the National Inclusive Curriculum for Health Education-Medical Initiative. Med Care;2025 (Jan 1);63(1 Suppl 1):S25-s30.
The lack of physician training in serving patients with intellectual and developmental disabilities (IDDs) has been highlighted as a key modifiable root cause of health disparities experienced by this high-priority public health population. To address gaps in medical education regarding the lack of IDD curriculum, lack of evaluation/assessment, and lack of coordination across institutions, the American Academy of Developmental Medicine and Dentistry created the National Inclusive Curriculum for Health Education-Medical (NICHE-MED) Initiative in 2016. The aims of NICHE-MED are to: (1) impact medical students’ attitudes and/or knowledge to address underlying ableism and address how future physicians think about disability; (2) apply a lens of health equity and intersectionality, centering people with IDD, but fostering conversation and learning about issues faced by other disability and minoritized populations; and (3) support community-engaged scholarship within medical education. As of 2024, the NICHE-MED initiative consists of close to 40 Medical School Partners, each with their own community-engaged disability curriculum intervention paired with a rigorous evaluation that ties centrally to coordinated program evaluation. The NICHE-MED initiative demonstrates implementation success at scale and is a successful community-engaged curriculum change model that may be replicated regarding disability more broadly and regarding necessary medical education efforts that center other marginalized populations.
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9. Chen B, McDermott S, Salzberg D, Zhang W, Hardin JW. Cost-effectiveness of a Low-cost Educational Messaging and Prescription-fill Reminder Intervention to Improve Medication Adherence Among Individuals With Intellectual and Developmental Disability and Hypertension. Med Care;2025 (Jan 1);63(1 Suppl 1):S15-s24.
BACKGROUND: Adults with intellectual and developmental disabilities (IDDs) have a similar prevalence of hypertension as the general population, but a higher rate of medication nonadherence at 50% compared with the average of 30%. OBJECTIVES: To assess the cost-effectiveness of educational messaging and prescription-fill reminders to adults with IDD and hypertension and their helpers among Medicaid members in a randomized control trial. RESEARCH DESIGN: The authors calculated net cost savings by subtracting per-participant intervention costs from differences in spending between preintervention/postintervention cases versus controls. Using bootstrap samples, they assessed the probability of positive cost savings. They used quantile and logistic regression to examine which members contributed to the cost savings and to identify future high-cost members at baseline. SUBJECTS: Four hundred twelve members with IDD and their helpers were recruited from the South Carolina Medicaid agency in 2018. MEASURES: Intervention costs were determined using labor and communication costs. Health expenditures were obtained from South Carolina’s all-payer claims database, using actual Medicaid expenditures and total all-payer expenditures estimated with cost-to-charge ratios. RESULTS: The intervention, which cost $26.10 per member, saved $1008.02 in all-payer spending and $1126.42 in Medicaid payments per member, respectively, with 78% and 91% confidence. Cost savings occurred among members above the 85th percentile of spending, and those using the emergency department or inpatient services at least twice at baseline were predicted to be future high-cost members. CONCLUSIONS: The intervention is cost-saving, and insurers can prospectively identify and target members who will likely benefit.
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10. Ervin DA. The State of Medical Care for Adults With Intellectual and/or Developmental Disabilities. Med Care;2025 (Jan 1);63(1 Suppl 1):S1-s7.
For more than 2 decades, medical care for adults with intellectual and/or developmental disabilities (IDDs) has been difficult to access and has not substantially changed the persistently poor health status that is common in this population cohort. While there has been some progress in the development of models of care that are designed with and for adults with IDD, it has been slow and sporadic, with little data or analyses of efficacy or effectiveness. Very few medical schools and other health science professional education in the United States include curricular content on adults with IDD, resulting in health care practitioners being under or altogether unprepared to provide care to them. Public and private health care policy and financing are not responsive to the medical care needs and experiences of adults with IDD. More recently, the impact of the COVID-19 pandemic on adults with IDD was disproportionally more severe, with significantly higher rates of morbidity and mortality than on adults without IDD, having nothing to do with the presence of an IDD itself. This commentary reviews persistent barriers to accessible, responsive medical care for adults with IDD and reviews a number of health care models that have been developed since the turn of the 21st century. It also offers a brief review of Medicaid Managed Care as a potential policy and financing solution to long-standing financing and related obstacles to optimal medical care.
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11. Fadeev KA, Romero Reyes IV, Goiaeva DE, Obukhova TS, Ovsiannikova TM, Prokofyev AO, Rytikova AM, Novikov AY, Kozunov VV, Stroganova TA, Orekhova EV. Attenuated processing of vowels in the left temporal cortex predicts speech-in-noise perception deficit in children with autism. J Neurodev Disord;2024 (Dec 6);16(1):67.
BACKGROUND: Difficulties with speech-in-noise perception in autism spectrum disorders (ASD) may be associated with impaired analysis of speech sounds, such as vowels, which represent the fundamental phoneme constituents of human speech. Vowels elicit early (< 100 ms) sustained processing negativity (SPN) in the auditory cortex that reflects the detection of an acoustic pattern based on the presence of formant structure and/or periodic envelope information (f0) and its transformation into an auditory "object". METHODS: We used magnetoencephalography (MEG) and individual brain models to investigate whether SPN is altered in children with ASD and whether this deficit is associated with impairment in their ability to perceive speech in the background of noise. MEG was recorded while boys with ASD and typically developing boys passively listened to sounds that differed in the presence/absence of f0 periodicity and formant structure. Word-in-noise perception was assessed in the separate psychoacoustic experiment using stationary and amplitude modulated noise with varying signal-to-noise ratio. RESULTS: SPN was present in both groups with similarly early onset. In children with ASD, SPN associated with processing formant structure was reduced predominantly in the cortical areas lateral to and medial to the primary auditory cortex, starting at ~ 150-200 ms after the stimulus onset. In the left hemisphere, this deficit correlated with impaired ability of children with ASD to recognize words in amplitude-modulated noise, but not in stationary noise. CONCLUSIONS: These results suggest that perceptual grouping of vowel formants into phonemes is impaired in children with ASD and that, in the left hemisphere, this deficit contributes to their difficulties with speech perception in fluctuating background noise.
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12. Javed A, Zhyzhneuskaya S, Khalid N, Rajabally H. Granulomatosis With Polyangiitis in an Autistic Patient With Depression: Challenges in Diagnosis and Management. Cureus;2024 (Nov);16(11):e73037.
A male patient in his 30s with autism and depression presented to the emergency department with joint pain, a petechial/purpuric rash, sputum production, hemoptysis, and epistaxis. His mother reported a family history of autoimmune conditions. Examination revealed a non-blanching petechial/purpuric rash and tenderness in the feet and ankles. Elevated inflammatory markers, non-blanching rash, previous history of meningitis, and a chest X-ray with patchy opacifications with new oxygen requirements prompted empirical antibiotics and steroids to cover for a chest and possible central nervous system (CNS) infection. Despite antibiotics, inflammatory markers kept rising, necessitating a switch to broad-spectrum antibiotics with subsequent clinical improvement. Later, a positive anti-proteinase 3 antibody test and a CT chest scan showing bilateral ground glass opacities confirmed granulomatosis with polyangiitis (GPA). Management included a weaning course of steroids, proton pump inhibitors, and rituximab infusions. This case highlights the need to consider autoimmune conditions like GPA in autistic patients with multi-system involvement.
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13. Ohnami S, Naito M, Kawase H, Higuchi M, Hasebe S, Takasu K, Kanemaru R, Azuma Y, Yokoyama R, Kochi T, Imado E, Tahara T, Kotake Y, Asano S, Oishi N, Takuma K, Hashimoto H, Ogawa K, Nakamura A, Yamakawa H, Ago Y. Brain region-specific neural activation by low-dose opioid promotes social behavior. JCI Insight;2024 (Dec 6);9(23)
The opioid system plays crucial roles in modulating social behaviors in both humans and animals. However, the pharmacological profiles of opioids regarding social behavior and their therapeutic potential remain unclear. Multiple pharmacological, behavioral, and immunohistological c-Fos mapping approaches were used to characterize the effects of μ-opioid receptor agonists on social behavior and investigate the mechanisms in naive mice and autism spectrum disorder-like (ASD-like) mouse models, such as prenatally valproic acid-treated mice and Fmr1-KO mice. Here, we report that low-dose morphine, a μ-opioid receptor agonist, promoted social behavior by selectively activating neurons in prosocial brain regions, including the nucleus accumbens, but not those in the dorsomedial periaqueductal gray (dmPAG), which are only activated by analgesic high-dose morphine. Critically, intra-dmPAG morphine injection counteracted the prosocial effect of low-dose morphine, suggesting that dmPAG neural activation suppresses social behavior. Moreover, buprenorphine, a μ-opioid receptor partial agonist with less abuse liability and a well-established safety profile, ameliorated social behavior deficits in two mouse models recapitulating ASD symptoms by selectively activating prosocial brain regions without dmPAG neural activation. Our findings highlight the therapeutic potential of brain region-specific neural activation induced by low-dose opioids for social behavior deficits in ASD.
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14. Qi K, Wang X, Xu Q, Hu B, Wang Z, Białas M. Effect of physical activity on social communication impairments in children with autism spectrum disorder: A meta-analysis. Heliyon;2024 (Oct 30);10(20):e39053.
This meta-analysis aims to systematically evaluate if different physical activities (PA) improve the social communication impairments (SCI) seen in children with autism spectrum disorder (ASD). For this meta-analysis, five databases (Web of Science, PubMed and Cochrane Library database in English, and CNKI and Wanfang Data Knowledge Service Platform in Chinese) were searched from database inception to September 11, 2024. The eligibility criteria included (1) study population comprised children with ASD, with no gender restriction; (2) experimental group consisted of a PA intervention; (3) control group consisted of nonPA interventions or routine activities; (4) outcomes were assessed using validated SCI scales (e.g., social cognition, social motivation, and/or social awareness); and (5) study design involved a randomized parallel group design. The quality of the evidence for each study was assessed using the Cochrane Risk of Bias tool. From a pool of 2714 potentially relevant articles, 17 were eligible for inclusion in this review. The results of overall response of PA intervention to SCI illustrated a Medium degree of statistical heterogeneity between studies (I(2) = 53.3 %, p < 0.01); the effect size of PA intervention on SCI (expressed as standardized mean difference) was -0.34 (95 % CI: -0.57, -0.11), which was statistically significant. SCI of autistic children could be potentially improved by PA interventions, though further research is needed to clarify if benefits achieve clinical significance in addition to statistical significance. Proper design of PA interventions (45-90 min per session, more than 3 times per week and for 8-12 weeks) may enhance their effectiveness in treating SCI in children with ASD.
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15. Şimşek BB, Keskin G, Yıldız İ, Ekşi A. Emotional and Behavioral Impacts of the February 6, 2023 Earthquake on Children with Autism Spectrum Disorder: An Evaluation from the Parental Perspective. J Autism Dev Disord;2024 (Dec 6)
PURPOSE: Earthquakes have serious psychosocial and emotional effects on children diagnosed with autism spectrum disorder (ASD) and their parents. The limited number of studies investigating the earthquake experience of children with ASD and their parents indicates a need to improve existing research in this area. The aim of this study was to assess parents’ experiences with their children after the earthquake and their reactions to the earthquake. METHODS: This study was subjected to analysis via both phenomenological and thematic analysis methods on the basis of the results of semistructured interviews with the parents of 21 children with ASD who were receiving their education in special education and rehabilitation centers. RESULTS: Two principal themes were discerned: the first theme, entitled Post-Eartquake Responses in Children and the second, entitled Parents’ Earthquake Experiences and Coping Strategies, were identified. Earthquakes had a significant effect on children’s bodily, behavioural and emotional responses. In addition, parents were compelled to devise a range of coping strategies to manage their emotional responses to the earthquake and to facilitate their children’s access to constrained educational opportunities and adapt to evolving social dynamics. CONCLUSION: In disaster situations, access to multidisciplinary support programs for children diagnosed with ASD and their families is highly important. These programs, designed through collaboration across various fields of expertise, can offer comprehensive solutions to the emotional, social, and physical challenges faced by children and their families.
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16. Singleton AL, Hipp HS, Ali N, Poteet B, Allen EG. Women’s healthcare providers’ knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI). J Assist Reprod Genet;2024 (Dec 6)
PURPOSE: This study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women’s healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis. The objective of this study was to describe these gaps and explore demographic factors influencing FXPOI knowledge in women’s healthcare practitioners. METHODS: A survey assessed familiarity with primary ovarian insufficiency and FXPOI knowledge among 107 women’s healthcare providers and 14 medical students in the USA. Knowledge Scores, ranging from 0 to 16, were assigned, and demographic data, including healthcare provider type, specialty, and genetics exposure in education or training, were collected. RESULTS: Participants scored an average of 6.92 (± 2.19) out of 16 (42%) despite 88% of participants reporting genetics exposure in training. Maternal fetal medicine (MFM) and reproductive endocrinology (REI) providers significantly outperformed general obstetrics and gynecology (OBGYN) practitioners (p = 0.0186 and 0.0125, respectively). Participants with a genetic counselor in their clinic scored 8% higher (p = 0.0083) than those without. Additionally, medical school graduation year was a significant predictor for knowledge score (p = 0.0397). CONCLUSION: This study underscores limited FXPOI knowledge among women’s healthcare providers, aligning with patient reports. Notably, medical specialty and the presence of a genetic counselor impacted knowledge, emphasizing the urgency for broader education in women’s healthcare, particularly among OBGYNs, the initial point of contact for patients with POI symptoms.
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17. Tarigan EF, Mahmudiono T, Puspitasari N, Paramita PP, Dwijayanti I. Determinants of the quality of life of mother with children with disability: A systematic review. Afr J Reprod Health;2024 (Oct 31);28(10s):332-347.
Mothers who care for children with disabilities experience various problems that affect their quality of life. The objective of this study was to identify the factors that influence the quality of life of mothers with disabilities children. A systematic review was conducted using data from six prominent electronic databases. Studies were observational, cross-sectional designs, and original research conducted from 2019 to 2023. Mothers who have children with Autism Spectrum Disorder (ASD) have the lowest scores for quality of life compared to mothers who have children with other types of disabilities. Parents have lower quality of life scores as primary caregivers compared to other caregivers. WHOQOL-Bref is the most widely used method as an instrument for evaluating quality of life. Parents who have children with disabilities experience problems, especially psychological health. The main factor related to the quality of life of parents who have children with disabilities is lifestyle. Parents who experience a decrease in quality of life are worried that their ability to provide care will not be optimal. It is recommended for health workers to socialize healthy lifestyle behaviors so that they can help improve the quality of life of parents who have children with disabilities.
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18. Tsuchiya M, Tsuchiya S, Momma H, Nagatomi R, Yaegashi N, Arima T, Ota C, Igarashi K. Bruxism associated with short sleep duration in children with autism spectrum disorder: The Japan Environment and Children’s Study. PLoS One;2024;19(12):e0313024.
Bruxism, the involuntary activity of masticatory muscles, is common among individuals with autism spectrum disorders (ASD). Although bruxism is bidirectionally associated with sleep issues, whether an infant’s sleep duration contributes to the development of bruxism remains unknown. In this study, a dataset (n = 83,720) obtained from the Japan Environment and Children’s Study, a nationwide birth cohort study, was subjected to multiple imputations using logistic regression analysis with adjustments for several maternal and child-related variables. The aim of this study was to assess whether shorter sleep duration in the neonatal period additively affected the high prevalence of parent-reported bruxism (PRB) among children with ASD. The prevalences of ASD and PRB in the participants were 1.2% and 7.2%, respectively, and the odds ratio of the increased risk of PRB prevalence in individuals with ASD (95% confidence interval) was 1.59 (1.31-1.94) after covariate adjustments. Importantly, shorter sleep duration in the neonatal period (at one month of age) was significantly associated with an increased risk of PRB prevalence in individuals with ASD. The increased occurrence of bruxism, known to be highly prevalent among children with ASD, is associated with shorter sleep duration, particularly in the neonatal stage. Based on our results, a better understanding of the development of bruxism in individuals with ASD would provide valuable information for the prevention of oral diseases.
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19. Xia Y, Hu L, Ren K, Han X, Sun Y, Li D. Embryonic exposure to 6:2 fluorotelomer alcohol mediates autism spectrum disorder-like behavior by dysfunctional microbe-gut-brain axis in mice. J Hazard Mater;2024 (Dec 1);484:136739.
6:2 fluorotelomer alcohol (6:2 FTOH) is considered an emerging contaminant as a substitute for perfluoroalkyl and polyfluoroalkyl substances. Autism spectrum disorder (ASD) is a highly heterogeneous childhood neurodevelopmental disorder, the prevalence of which has been significantly increasing globally, possibly due to rising exposure to environmental pollutants. Additionally, the microbe-gut-brain axis plays a crucial role in the development of ASD. The purpose of study was to investigate the impact of embryonic 6:2 FTOH exposure on neurological development in mice and explore the potential involvement of the microbe-gut-brain. Pregnant mice were orally administered 6:2 FTOH from gestation day 8.5 until delivery, and follow-up testing was performed on day 22 post-delivery. The findings revealed that embryonic exposure to 6:2 FTOH led to ASD-like symptoms, cortical neuron apoptosis, glial cell activation, and abnormal synapse formation in mice. Furthermore, impairment of colonic barrier function, inflammatory response, and dysbiosis in gut microbiota were observed. Interestingly, supplementation with Lactobacillus rhamnosus GG during embryonic development mitigated these adverse outcomes. This study enhances our understanding of how environmental pollutants can impact neurological development in children and provides valuable insights for clinical prevention, diagnosis, and treatment strategies for non-genetic ASD.
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20. Zhang L, Ji J, Wang Y, Wang L, Zheng R, Jiang Y. Plasma vitamin levels and pathway analysis in boys with autism spectrum disorders. Sci Rep;2024 (Dec 5);14(1):30344.
Abnormal feeding behaviors and inadequate nutrient intake of children with autism spectrum disorder (ASD) have been reported. This study aimed to examine the plasma vitamin status of boys with autism spectrum disorder (ASD) and to analyze the association between vitamin status and symptoms of ASD. A total of 45 boys with ASD (age = 3.25 ± 0.68 years) and 45 typically developing (TD) boys (age = 3.33 ± 0.66 years) were enrolled. The developmental levels were evaluated using the Gesell Developmental Schedules (GDS), the severity of ASD was evaluated using the Childhood Autism Rating Scale (CARS). The plasma vitamin levels were determined using metabolomics method. The Vitamin B1, nicotinamide, pyridoxamine dihydrochloride and Vitamin E were found to be significantly higher in the boys with ASD compared with those without ASD. In addition, no significant differences in vitamin metabolic pathways were found between the ASD group and the TD group.The nicotinamide and pyridoxamine dihydrochloride concentration were found to be negatively correlated with GDS score. In comparison with TD boys, the plasma vitamin concentration of ASD boys was not insufficient. Further studies are required to investigate whether it is necessary to use vitamin nutritional supplements in children with ASD.
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21. Zukerman G, Tikochinsky S, Yahav G, Ben-Itzchak E. Distinguishing autism spectrum disorder and social anxiety: Exploring adaptive skills among university students. Psychiatry Res;2024 (Nov 30);343:116304.
High comorbidity and diagnostic overlap between autism spectrum disorder and social anxiety disorder have been documented. We examined if differences in adaptive behavior, essential for daily functioning, could differentiate these conditions among young university students. Eighty-eight autistic and 123 non-autistic undergraduates were categorized into four groups: autistic individuals: with low (n = 26)/high (n = 62) social anxiety (SA) symptoms; non-autistic: with low (n = 63)/high (n = 60) SA. The Adaptive Behavior Assessment System (ABAS) was utilized to assess three domains of adaptive skills essential for daily functioning: conceptual (academic and communication abilities), social (relationships and understanding social cues), and practical (everyday tasks such as self-care and work). Autistic students, regardless of SA level, reported ABAS scores within the low average range for the conceptual adaptive behavior domain, while non-autistic students had average scores. In terms of ABAS social adaptive behavior scores, both autistic and non-autistic groups with high levels of SA had low average scores. Conversely, those with low SA, whether autistic or non-autistic, exhibited average scores. These results were supported by the regression analyses outcomes. While autism traits and social anxiety showed medium (β=-0.37) and small (β=-0.27) effects, respectively, on conceptual adaptive scores, only social anxiety exhibited significant (medium) effects on social (β=-0.41) and practical (β=-0.34) adaptive scores. Reduced conceptual skills, previously linked to communication and executive function, may distinguish autism from social anxiety. Implications for research and practice are discussed.