Pubmed du 14/10/24
1. Alacabey NA, Coşkun D, Ateşşahin A. Effects of Boron on Learning and Behavioral Disorders in Rat Autism Model Induced by Intracerebroventricular Propionic Acid. Biol Trace Elem Res. 2024.
Autism spectrum disorder is a neurodevelopmental disorder in which learning, communication, and social interaction are impaired. Research has sought to minimize the neural impairments associated with autism spectrum disorder and improve the quality of life. Recent studies suggest that boron may benefit nerve cells, with effects varying depending on the dosage. This study explored the impact of boron, administered as boric acid, on behavioral, biochemical, and histopathological parameters in a rat model of autism induced by propionic acid (PPA). Thirty-two male Sprague-Dawley rats were divided into control, autism model, and boron-treated groups. Behavioral tests were conducted pre- and post-PPA induction, with brain tissue analyzed post-euthanasia. Proinflammatory cytokines (tumor necrosis factor alpha (TNF-α), interleukin 1 beta (IL-1β), interleukin 6 (IL-6)) and brain-derived neurotrophic factor (BDNF) levels were assessed in the hippocampus. Histopathological evaluations were conducted on the hippocampus and cerebellum. Autism model rats displayed impaired learning, elevated BDNF and cytokine levels, microglial and astrocytic activation, and decreased Purkinje cell count. The boron-treated groups showed improvements, particularly with the 4 mg/kg dose. This dose enhanced learning and social interaction, reduced proinflammatory cytokine levels, prevented microglial and astrocytic activation, and increased Purkinje cell count. Boron treatment exhibited neuroprotective potential, ameliorating autism spectrum disorder deficits by modulating cytokines, BDNF, microglia, and astrocytes, with low doses yielding pronounced effects.
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2. Almohmadi NH. Brain-gut-brain axis, nutrition, and autism spectrum disorders: a review. Transl Pediatr. 2024; 13(9): 1652-70.
Autism is a neurological disorder that affects social skills and behavior. A significant number of children with autism spectrum disorders (ASDs) may not display noticeable symptoms until they reach the age of three or older. Several factors, including genetic and environmental issues, could affect the progression of ASD in children. Dietary behavior or administration may have a crucial role in the development of autism. Epidemiological investigations have demonstrated that environmental influences play a significant role in how changes in diet can affect behavior and physiology. However, exclusion diets have not been thoroughly studied in relation to this effect. Atypical food behaviors, altered nutritional profiles, and being overweight, obese, or underweight are all associated with autism in children. Overweight or underweight was common in children with autism, but it was not necessarily uncommon in children with normal growth. Moreover, deficiencies in certain vitamins (B12, B9, and D), minerals (calcium and iron), fatty acids (omega-3 and -6), energy, and protein have been documented in children with ASD. The deficiency of these nutrients may lead to gastrointestinal (GI) symptoms and change the microbiota in children with ASD. Some nutritional interventions could help individuals with ASD to improve their mental health. Recognizing dietary habits and nutrient requirements can help in planning the best overall treatment for autism. This review discusses GI symptoms and disorders related to nutrition and nutrient-dense diets for ASD.
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3. Asiri FY, Tennant M, Kruger E. Oral health status of children with autism spectrum disorder in KSA: A systematic review and meta-analysis. J Taibah Univ Med Sci. 2024; 19(5): 938-46.
BACKGROUND: Individuals with autism spectrum disorder (ASD) often face challenges in maintaining good oral health, because of factors including sensory sensitivities, communication difficulties, and microbial imbalances in the oral cavity. Despite growing awareness of ASD, both in Kingdom of Saudi Arabia (KSA) and globally, no systematic review has comprehensively assessed the effects of ASD on oral health status in KSA. OBJECTIVE: This study was aimed at assessing whether the oral health of individuals with ASD in KSA might differ from that of neurotypical individuals, on the basis of a systematic review framework. MATERIALS AND METHODS: According to the Participants, Exposure, Comparison, and Outcome (PICO) framework, a systematic search of electronic databases was conducted, and screening was independently performed by two reviewers. Conflicts were resolved through discussion. Data on study characteristics and oral health findings were independently extracted by the two reviewers. The risk of bias was assessed with the Joanna Briggs Institute (JBI) Critical Appraisal Checklist for Analytical Cross-Sectional Studies. RESULTS: Of 763 initially identified articles, 14 met the inclusion criteria. These studies indicated that children with ASD have a higher prevalence of dental caries, greater gingival inflammation, and a greater risk of dental trauma than their neurotypical peers. Parents of children with ASD showed elevated concern regarding their children’s oral health. CONCLUSION: Training dental professionals to manage patients with ASD is essential. Further research with larger sample sizes and rigorous methods is necessary to enhance understanding of the relationship between ASD and oral health outcomes in KSA.
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4. Bo L, van der Miesen AIR, Klomp SE, Williams ZJ, Szatmari P, Lai MC. The missing clinical guidance: a scoping review of care for autistic transgender and gender-diverse people. EClinicalMedicine. 2024; 76: 102849.
The co-occurrence of autism and gender diversity has been increasingly studied in the past decade. It is estimated that ∼11% of transgender and gender-diverse (TGD) individuals are diagnosed with autism. However, there is insufficient knowledge about appropriate gender-related clinical care for autistic TGD individuals. We performed a scoping review of current clinical guidance for the care of TGD individuals to identify what was said about autism. Clinical guidance documents were searched in PubMed, Web of Science, Google Scholar, Embase, Guidelines International Network, and TRIP medical database, as well as reference mining and expert recommendation. Evidence was synthesised by narrative synthesis, recommendation mapping, and reference frequency analysis. Out of the identified 31 clinical guidance documents, only eleven specifically mentioned the intersection between autism and TGD. Key concepts among the available recommendations included advocating for a multidisciplinary approach; emphasising the intersectionality of autism and gender-diverse experiences during assessments; and-importantly-recognising that autism, in itself, does not serve as an exclusion criterion for receiving gender-related care. However, detailed and practical clinical guidance is lacking due to a gap in evidence. Empirical research into the care experiences and outcomes of autistic TGD individuals using a developmental, lifespan, and strengths-based approach is needed to generate evidence-informed and tailored guidance. FUNDING: This study was funded through a Canadian Institutes of Health Research Sex and Gender Science Chair program (GSB 171373) awarded to M-CL.
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5. Ding X, Wu J, Li D, Liu Z. The benefit of rhythm-based interventions for individuals with autism spectrum disorder: a systematic review and meta-analysis with random controlled trials. Front Psychiatry. 2024; 15: 1436170.
OBJECTIVE: Individuals with autism spectrum disorder (ASD) exhibit impaired behavior synchronization, which is associated with social deficits. Numerous studies have demonstrated that rhythm-based interventions can effectively mitigate social deficits by promoting behavioral synchronization in individuals with ASD. Therefore, a review of the current literature is warranted in this field. The objectives of this review were to explore the effects of rhythm-based interventions on overall social skills and to study the differences in the effects of rhythm-based interventions on specific social skills. METHOD: The databases PubMed, Web of Science, Scopus, and Psycinfo were systematically explored until March 2024. A total of eleven research studies, encompassing 408 participants diagnosed with ASD, were incorporated into the meta-analysis. Effect sizes (Hedges’ g) were computed for each comparison and amalgamated using random-effects models to evaluate the social skills of individuals with ASD. The methodological quality of each study was evaluated using the Physiotherapy Evidence Database scale(PEDro). RESULTS: Overall, some valuable observations were made. Rhythm-based interventions had a medium effect on the overall social skills for ASD (Hedges’s=0.681; 95%CI[0.075 to 1.286], P < 0.05). Regarding domain-specific social skills, rhythm-based interventions had a large effect on social interaction (g = 1.299,95% CI [0.508 to 2.091]), a small effect on communication (g = 0.383, 95% CI [0.033 to 0.733], P < 0.05), and a large effect on emotion (g = 1.752, 95% CI [0.294 to 3.210], P < 0.05). However, we found a favorable but non-significant effect (g = 0.125, 95% CI [-0.039 to 0.289], P > 0.05) of rhythm-based interventions on empathy. All study qualities were high (score≥6) using the Physiotherapy Evidence Database (PEDro) scale assessment. CONCLUSION: This result indicates the importance of rhythm in the clinical rehabilitation of individuals with ASD. We suggest adding appropriate rhythmic elements to clinical interventions, particularly for individuals with ASD who are less socially competent.
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6. Dubey MJ, Ghosh R, Dubey S, Das S, Chakraborty AP, Chatterjee S, Sengupta S, Benito-León J. Integrating parental psychopathologies in autism spectrum disorder care: Toward a holistic family-centric approach. Indian J Psychiatry. 2024; 66(8): 751-4.
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7. Gök Dağıdır H, Bukan N, Bahcelioglu M, Çalıkuşu A, Alim E, Dizakar S, Topa E, Bolay H. tVNS alters inflammatory response in adult VPA-induced mouse model of autism: evidence for sexual dimorphism. FEBS Open Bio. 2024.
Autism is a neurodevelopmental disorder with limited treatment alternatives and which incidence is increasing. Some research suggests that vagus nerve simulation might lead to the reduction of certain symptom. Therefore, we aimed to examine the effect of bilateral transcutaneous auricular vagus nerve stimulation (tVNS) on the inflammatory response in an adult valproic acid (VPA) induced mouse (C57BL6) model of autism for the first time. The autism model was induced by oral VPA administration (600 mg·kg(-1)) to C57BL/6 pregnant mice on E12.5 days. The study included three groups: the VPA Transcutaneous Auricular Stimulation Group (VPA + tVNS), the VPA Control Group (VPA + sham), and the Healthy Control Group (Control + sham). Each group included 16 mice (8 M/8 F). Our results show that serum IL-1β and IL-6 levels were significantly higher in male VPA-exposed mice than controls. However, IL-1β was significantly lower, and IL-6, TNF- α, and IL-22 were not different in female VPA-exposed mice compared to the control group. Brain NLRP3 levels were significantly higher in both sexes in the VPA autism model (P < 0.05). tVNS application increased brain NLRP3 levels in both sexes and reduced serum IL-1β levels in male mice. We conclude that cytokine dysregulation is associated with the VPA-induced adult autism model, and the inflammatory response is more pronounced in male mice. tVNS application altered the inflammatory response and increased brain NLPR3 levels in both sexes. Further studies are needed to understand the beneficial or detrimental role of the inflammatory response in autism and its sexual dimorphism.
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8. Heegaard M, Ingadottir K, Ragborg L, Dahl B, Hansen LV, Ohrt-Nissen S, Gehrchen M. The Association Between Hounsfield Units and Mechanical Failure in ASD Patients. Global Spine J. 2024: 21925682241291519.
STUDY DESIGN: Retrospective Cohort Study. OBJECTIVES: Low bone mineral density (BMD) is a known risk factor for revision surgery in patients with adult spinal deformity (ASD). Hounsfield units (HUs) on CT scans have been suggested as a proxy for assessing BMD. This study aimed to determine HUs in the lumbar region and their association with mechanical failure in patients undergoing ASD surgery. METHODS: We included ASD patients undergoing surgery from 2010-2020 with minimum 2-year follow-up. We excluded patients without preoperative CT scans, or a CT scan more than 1 year before surgery. Mechanical failure was defined as proximal junctional failure, pseudarthrosis, or implant failure requiring revision surgery. On preoperative CT scans, HUs were measured on 3 axial slices on each vertebra from L1-L5 and, if available, at UIV and UIV + 1. RESULTS: We included 170 patients, mean age 63 (±12) years, with 108 (64%) females, and 13 [IQR 10-16] instrumented levels. Mechanical failure occurred in 27% (n = 46) of patients at 2-year follow-up. Mean lumbar HUs were 146 (±51) in the mechanical failure group and 135 (±52) in those without revision (P = .232). Area under the curve was 0.58 (95% CI: 0.48-0.68), corresponding to no to low discriminatory power in predicting mechanical failure using lumbar HUs. Univariate logistic regression revealed no significant difference between mechanical failure and lumbar HUs (OR = 1.00, 95% CI: 1.00-1.01, P = .239). CONCLUSIONS: We found no association between mechanical failure and HUs on preoperative CT scans in ASD patients. Thus, we cannot recommend using HUs to predict mechanical failure in these patients.
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9. Janz P, Bainier M, Marashli S, Gross S, Redondo RL. Clinically-probed mechanisms of action in Fragile-X Syndrome fail to normalize translational EEG phenotypes in Fmr1 knockout mice. Neuropharmacology. 2024: 110182.
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by Fragile X Messenger Ribonucleoprotein (FMRP) deficiency. Electroencephalogram (EEG) changes in FXS include alterations of oscillatory activity and responses to sensory stimuli, some of which have been back-translated into rodent models by knocking-out the Fragile X messenger ribonucleoprotein 1 gene (Fmr1-KO). However, the validity of these EEG phenotypes as objective biomarkers requires further investigation. Potential pharmacotherapies such as mGluR5 inhibitors (e.g. CTEP; 2-chloro-4-((2,5-dimethyl-1-(4-(trifluoromethoxy)phenyl)-1H-imidazol-4-yl)ethynyl)pyridine), GABA(B)R agonists (e.g. arbaclofen) and δ-containing GABA(A)R agonists (e.g. gaboxadol) have not translated into clinical success despite rescuing many phenotypes in the Fmr1-KO model. Yet none of these treatments have been assessed on EEG phenotypes in the Fmr1-KO model. Therefore, we set out to discover new EEG phenotypes in Fmr1-KO mice, using « task-free » and auditory-evoked (AEPs) and visually-evoked potential (VEP) paradigms, and probe their modulation by CTEP, arbaclofen and gaboxadol, using within-subjects designs. First, we report Fmr1-KO-associated EEG abnormalities that closely resemble those observed in FXS, including elevated gamma-band power, reduced alpha/beta-band coherence, increased AEPs and delayed VEPs. Secondly, we found that pharmacological treatment, at best, only partially normalized EEG phenotypes. CTEP restored alpha/beta-band coherence and AEP amplitudes but failed to normalize gamma power and VEP latencies. Conversely, arbaclofen reduced gamma power but did not restore coherence or AEP amplitudes and further delayed VEPs. Gaboxadol did not normalize any EEG phenotypes. We conclude that these compounds have limited ability to normalize these EEG phenotypes.
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10. L DVN, Sivanesan SK, Kumar DS. Synucleins As Biomarkers of Severity in Autism Spectrum Disorder. Cureus. 2024; 16(9): e69356.
Introduction Autism spectrum disorder (ASD) is a lifelong disorder affecting children quite early in life, manifested as delays in communication and stereotypic behaviors. To date, it is diagnosed clinically using the Diagnostic and Statistical Manual-5 (DSM-V) criteria due to the lack of biomarkers that can specifically denote the disorder. The role of synucleins in this context has been considered due to the increasing evidence of neurodegeneration in many autistic children. Synucleins are a group of soluble neuronal proteins primarily expressed in the central nervous system. They are of three types: α-, β-, and ɣ-synuclein. α-synuclein is involved in vesicle trafficking and release of neurotransmitters. There is no uniformity in the scientific community regarding their levels of autism, with few studies showing increasing levels and others to the contrary. Hence, the present study was conceived to analyze the levels of α-synuclein and β-synuclein in autistic children and to correlate with the disease severity. Objectives The main objective of the study was to assess the levels of α- and β-synuclein in autistic children of 2-8 years of age and to identify the correlation between the severity of core symptoms of autism and α- and β-synuclein levels. It is intended to assess the possibility of using α- and β-synuclein/their ratio as a biomarker of the severity of autism. Materials and methods Plasma levels of α-synuclein and β-synuclein were measured in 160 ASD children and 40 healthy age and sex-matched children by ELISA. Their symptom severity was assessed with CARS-2 ST and the Indian Scale of Autism Assessment (ISAA). Values of α- and β-synuclein were analyzed for correlation with the severity rating of ASD. Cut-off values of α-synuclein and β-synuclein that discriminate the presence of autism and its severity were assessed using Jamovi 2.4.14 software. Results The results show that α-synuclein levels were significantly reduced (5.02 ± 0.586; range: 3.13-6.0 ng/ml) when compared with healthy controls (29.47 ± 18.62 ng/ml; range: 22.39- 36.56) with p < 0.001, and β-synuclein levels were elevated (1424 ng/ml ± 122; range: 1229-1616 ng/ml) when compared to control, though not significantly. Plasma levels of α-synuclein significantly correlate with disease severity with good diagnostic accuracy (86%), but β-synuclein levels did not correlate with severity. The fold changes of synucleins, especially the fold decrease in levels of α-synuclein, were discriminative for the diagnosis and severity with good sensitivity (93.6%), specificity (74.3%), positive predictive (92.6%), and negative predictive values (76.5%). The fold increase in β-synuclein did not have any significance in predicting the severity of autism. Conclusion The present study showed that α-synuclein and β-synuclein were associated with ASD and can be used to assess its severity. A fold decrease in α-synuclein was found to have good discriminating value in differentiating the severity of autism. It may be of use especially in mild and high-functioning autism, when clinically distinguishing them may be difficult.
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11. Liu H, Bai Q, Wang X, Jin Y, Ju X, Lu C. Immune signature of gene expression pattern shared by autism spectrum disorder and Huntington’s disease. IBRO Neurosci Rep. 2024; 17: 311-9.
Autism spectrum disorder (ASD) and Huntington’s disease (HD) are complex neurological conditions with unclear causes and limited treatments, affecting individuals, families, and society. Despite ASD and HD representing two opposing stages of neuronal development and degeneration, they share similar clinical-pathological features in motor function. In this study, we leveraged transcriptomic data from the prefrontal cortex available in public databases to identify shared transcriptional characteristics of ASD and HD. Differential expression analysis revealed that the majority of differentially expressed genes (DEGs) were up-regulated in ASD carriers, whereas most DEGs were down-regulated in HD carriers. Among the DEGs shared between both diseases, three out of seven protein-coding genes were related to the immune system. Furthermore, we identified two enriched pathways shared between ASD and HD DEGs. The gene interaction network analysis unveiled four hub genes shared by both diseases, all of which are associated with immune functions. The findings suggest a shared gene expression pattern in the prefrontal cortex of people with ASD and HD, closely linked to the immune system. These findings will contribute to exploring the biological mechanisms underlying the shared phenotypes of these two diseases from an immunological perspective.
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12. Madzimbe P, Maart S, Corten L, Dambi J. Participation of fathers and siblings in home rehabilitation programmes for children with neuro-developmental delay: a scoping review. BMC Pediatr. 2024; 24(1): 659.
BACKGROUND: The role of, and impact on, mothers caring for children with neuro-developmental delay (NDD) is well documented. However, the role of fathers and siblings in families of children with NDD remains significantly understudied, particularly in low- and middle-income countries (LMICs). There has been an increased call for holistic rehabilitation of children with NDD at the family level. This study aimed to explore the involvement of fathers and siblings in the home rehabilitation programmes of children with NDD. METHODS: A scoping review was conducted using the Joanna Briggs Institute (JBI) Peters et al.’s methodology and reported according to Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines. Articles were retrieved from PUBMED, ScienceDirect, PsycINFO, SCOPUS, PEDro, and Google Scholar. Reference lists of relevant studies were also manually searched. RESULTS: Thirty research articles were identified. Father and sibling participation in home-based rehabilitation and caregiving is low in LMICs compared to high-income countries due to economic factors and cultural beliefs. Reduced participation stresses mothers and reduces developmental outcomes in children with NDD. CONCLUSIONS: This review highlights the need for rehabilitation professionals to encourage father and sibling participation in caregiving for children with NDD in home rehabilitation programmes.
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13. Moreno N, Lynch FC, Zalazar MA, Miranda CF, Vidal SH, Armeno ML. [Decreased vision due to hypovitaminosis A in children with food selectivity]. Medicina (B Aires). 2024; 84(5): 860-7.
INTRODUCTION: Vitamin A deficiency can cause eye disease and has been related to food selectivity in children with autism spectrum disorder (ASD). METHODS: A series of 13 pediatric patients with severe ophthalmological involvement as an initial manifestation of hypovitaminosis A is described. RESULTS: With significant Vitamin A deficiency, neuroimaging was performed in 11 patients. Of these, 8 had pathological findings with the presence of cranial hyperostosis. Lumbar puncture was performed in these patients and endocranial hypertension was detected in 7 of the 8 patients. All had food selectivity and 61.5% had ASD. CONCLUSIONS: Toxic-nutritional optic neuropathy is a rare pathology in children and presents with progressive, bilateral and painless visual loss due to damage to the optic nerve, which can generate severe and irreversible damage to it. Food history allows early detection of nutrient deficiencies in children with restrictive feeding, especially in neuro-atypical patients. This is essential to implement preventive measures and treatment with vitamin A in order to avoid irreversible consequences.
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14. Rezai H, Dadgar H, Kasaeian A. Video Training and Telepractice for Parents of Nonverbal Children with Autism Spectrum Disorder: a Randomized Control Trial. Med J Islam Repub Iran. 2024; 38: 72.
BACKGROUND: Many children with autism spectrum disorder (ASD) are unable to benefit from timely interventions. This research aimed to indirectly enhance play and communication skills in ASD children by providing a video educational package and distance education for their parents. METHODS: In this clinical trial study, 32 parents and their children with ASD were randomly assigned to either the intervention or waitlist control groups. The intervention group received an educational video package along with 24 one-hour online sessions. The frequency of communication, engagement in functional games, and the use of conventional and unconventional gestures were assessed before, immediately after, and 3 months following the completion of the intervention in the participating children. The variables were analyzed within and between the two groups using a mixed between-within-subjects analysis of variance (ANOVA). RESULTS: The intervention group achieved significantly higher scores than the control group in the frequency of communication (P = 0.003), functional play (P < 0.001), and conventional gestures (P < 0.001). Conversely, the intervention group had significantly lower scores than the control group in unconventional gestures (P < 0.001). CONCLUSION: The observed improvements in both parents and children within the intervention group provide compelling support for the effectiveness of telepractice in speech therapy. This suggests that incorporating remote training methods into speech therapy sessions could enhance access for children with ASD to these interventions.
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15. Schaubroeck S, Demurie E, Begum-Ali J, Bölte S, Boterberg S, Buitelaar J, Charman T, Falck-Ytter T, Hunnius S, Johnson M, Jones E, Pasco G, Van den Boomen C, Warreyn P, Roeyers H. Investigating the Predictive Validity of the Quantitative Checklist for Autism in Toddlers and the Autism Diagnostic Observation Schedule-2 in Children at Elevated Likelihood for Autism. J Autism Dev Disord. 2024.
This study examined the recurrence rate of autism in siblings at elevated likelihood (EL) and the predictive validity of the Q-CHAT and ADOS-2 at 14 and 24 months (m) for a clinical best estimate (CBE) autism diagnosis at 3 years. 331 EL-siblings (47.9% girls) from the prospective longitudinal EuroSibs study underwent ADOS-2 assessments and caregivers completed the Q-CHAT at 14 m and 24 m. At 3 years CBE was determined using DSM-5 criteria. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were estimated. Autism recurrence rate was 25.7% [95% CI (21.1, 30.6)]. Q-CHAT sensitivity was 31.8% [95% CI (21.4, 43.6)] at 14 m and 30.6% [95% CI (20.7, 41.7)] at 24 m. Specificity was 81.2% [95% CI (75.4, 86.2)] at 14 m and 94.8% [95% CI (91.2, 97.2)] at 24 m. PPV was 35.6% [95% CI (24.2, 48.2)] at 14 m and 66.7% [95% CI (49.8, 81.1)] at 24 m. NPV was 78.5% [95% CI (72.6, 83.7)] and 79.9% [95% CI (74.7, 84.6)] respectively. ADOS-2 demonstrated a of 64.3% [95% CI (45.9, 80.2)] and 69.3% [95% CI (58.4, 79.0)] and a specificity of 71.1% [95% CI (60.3, 80.4)] and 68.7% [95% CI (62.5, 74.5)] at 14 m and 24 m respectively. PPV was 45% [95% CI (30.3, 60.4)] at 14 m and 41.9% [95% CI (33.5, 50.7)] at 24 m. NPV was 84.4% [95% CI (74.2, 91.8)] at 14 m and 87.3% [95% CI (81.9, 91.6)] at 24 m. Q-CHAT and ADOS-2 at 14 m and 24 m can aid in early differentiation between EL-siblings who need further assessment and those who do not, but neither has sufficient sensitivity and PPV for standalone CBE diagnosis prediction.
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16. Uliana JC, Barcellos VM, Tatsch KF, Kloeckner FL, Moreira CHC, Kantorski KZ. Level of support/commitment and behavior during mealtime and dental care negatively impact the dental caries prevalence in autistic individuals: cross-sectional study. Clin Oral Investig. 2024; 28(11): 597.
OBJECTIVE: To verify whether factors associated with Autism Spectrum Disorder (ASD) would have impact on the dental-caries prevalence. MATERIALS AND METHODS: All ASD-individuals receiving care in a specialized center with minimum of 4y old were recruited. Demographic, socioeconomic and behavioral characteristics, level of support/commitment (Childhood Autism Rating Scale), mealtime behavior (Brief Autism Mealtime Behavior Inventory) and medication use were answered by ASD-individual’s parents. Behavior during dental care was evaluated from Frankl scale. Dental-caries prevalence was the primary outcome. Three examiners calibrated/trained collected the data. Chi-square test was used to compare the variables impact on the dental-caries prevalence. RESULTS: 61 ASD-individuals were potentially eligible, and the all parents/guardians consent to participate. Dental-caries prevalence was 42.9%, which was statistically associated with lower toothbrushing frequency, higher level of support/commitment, and worse behavior at meals and during in dental care. Dental-caries prevalence was approximately higher twice in ASD-individuals: (i) uncooperative with dental care when compared those cooperative (62% versus 32%, respectively); (ii) with severe level of support when compared to those with mild/moderate level (58% versus 28%, respectively); and (iii) with worse mealtime behavior when compared to those with better behavior (59% versus 28%, respectively). A medium statistical correlation was observed between support level and mealtime behavior (r(S)=0.39). The BAMBI component statistically associated with dental-caries prevalence was the food refusal (capture problem when a child rejects a presented food, crying, spitting out food). CONCLUSION: higher required level of support, worse mealtime behavior and uncooperative profile in dental care negatively affect the dental-caries prevalence. CLINICAL RELEVANCE: our findings provide evidence of the need of specialized, preventive and individualized dental care among ASD-individuals.
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17. Yao Y, Li Q. The Role of Parvalbumin Interneurons in Autism Spectrum Disorder. J Neurosci Res. 2024; 102(10): e25391.
As an important subtype of GABAergic interneurons, parvalbumin (PV) interneurons play a critical role in regulating cortical circuits and neural networks. Abnormalities in the development or function of PV interneurons have been linked to autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by social and language deficits. In this review, we focus on the abnormalities of PV interneurons in ASD, including quantity and function and discuss the underlying mechanisms of impairments in PV interneurons in the pathology of ASD. Finally, we propose potential therapeutic approaches targeting PV interneurons, such as transplanting MGE progenitor cells and utilizing optogenetic stimulation in the treatment of ASD.
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18. Zahiri J, Mirzaie M, Duan K, Xiao Y, Aamodt C, Yang X, Nazari S, Andreason C, Lopez L, Barnes CC, Arias S, Nalabolu S, Garmire L, Wang T, Hoekzema K, Eichler EE, Pierce K, Lewis NE, Courchesne E. Beyond the Spectrum: Subtype-Specific Molecular Insights into Autism Spectrum Disorder Via Multimodal Data Integration. medRxiv. 2024.
Some toddlers with autism spectrum disorder (ASD) have mild social symptoms and developmental improvement in skills, but for others, symptoms and abilities are moderately or even severely affected. Those with profound autism have the most severe social, language, and cognitive symptoms and are at the greatest risk of having a poor developmental outcome. The little that is known about the underlying biology of this important profound autism subtype, points clearly to embryonic dysregulation of proliferation, differentiation and neurogenesis. Because it is essential to gain foundational knowledge of the molecular biology associated with profound, moderate, and mild autism clinical subtypes, we used well-validated, data-driven patient subtyping methods to integrate clinical and molecular data at 1 to 3 years of age in a cohort of 363 ASD and controls representative of the general pediatric population in San Diego County. Clinical data were diagnostic, language, cognitive and adaptive ability scores. Molecular measures were 50 MSigDB Hallmark gene pathway activity scores derived from RNAseq gene expression. Subtyping identified four ASD, typical and mixed diagnostic clusters. 93% of subjects in one cluster were profound autism and 93% in a different cluster were control toddlers; a third cluster was 76% moderate ability ASD; and the last cluster was a mix of mild ASD and control toddlers. Among the four clusters, the profound autism subtype had the most severe social symptoms, language, cognitive, adaptive, social attention eye tracking, social fMRI activation, and age-related decline in abilities, while mild autism toddlers mixed within typical and delayed clusters had mild social symptoms, and neurotypical language, cognitive and adaptive scores that improved with age compared with profound and moderate autism toddlers in other clusters. In profound autism, 7 subtype- specific dysregulated gene pathways were found; they control embryonic proliferation, differentiation, neurogenesis, and DNA repair. To find subtype- common dysregulated pathways, we compared all ASD vs TD and found 17 ASD subtype- common dysregulated pathways. These common pathways showed a severity gradient with the greatest dysregulation in profound and least in mild. Collectively, results raise the new hypothesis that the continuum of ASD heterogeneity is moderated by subtype- common pathways and the distinctive nature of profound autism is driven by the differentially added profound subtype- specific embryonic pathways .
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19. Zandiehrad S, Raghibdoust S, Joghataei MT, Golfam A. Study of Pragmatic Skills of Persian-speaking Adults with Autism Spectrum Disorder Based on the Persian Version of Montreal Protocol for the Evaluation of Communication (P.M.E.C.). Med J Islam Repub Iran. 2024; 38: 45.
BACKGROUND: Various studies have shown that individuals with autism spectrum disorder (ASD) experience significant cognitive impairments during childhood. Individuals often experience various language disorders that can manifest in different ways. There are also studies indicating that these impairments persist into adulthood for individuals with ASD. This study aimed to evaluate and identify cognitive impairments among Persian-speaking adults with ASD. METHODS: This research is of a quantitative nature and has been conducted using an experimental method in which two subtests from the Persian Version of the Montreal Protocol for the Evaluation of Communication (P.M.E.C.), including the Metaphor Interpretation and Speech Act Interpretation subtests, were utilized. Thirteen Persian-speaking men with ASD participated in this research, with ages ranging from 25 to 44 years (mean age 32.84, standard deviation 4.17), whose educational levels varied from primary school to 20 years of formal education. The control group consisted of 26 healthy Persian-speaking men who were matched in terms of age and educational level with the ASD group. The Kolmogorov-Smirnov test and a paired t-test were used to compare the two groups. RESULTS: The results indicated that the ASD group performed significantly poorer in both the Metaphor Interpretation subtest (P < 0.001) and the Speech Act Interpretation subtest (P = 0.033) compared to the healthy control group, suggesting cognitive impairments in their abilities. CONCLUSION: The findings of this research can be valuable for assessment and intervention purposes in rehabilitation centers, as well as in academic and research settings.
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20. Zheng Z, Cai D. Causality Between ADHD, ASD, and CVDs: A Two-Step, Two-Sample Mendelian Randomization Investigation. J Atten Disord. 2024: 10870547241288741.
BACKGROUND: While observational studies have established a connection between attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and heightened risk for cardiovascular diseases (CVD), the causal relationships are not well-defined. This study is designed to examine the causality between ASD, ADHD, and CVD risk as well as investigate the mediating factors through which ADHD and ASD influence CVD. METHODS AND RESULTS: Leveraging two-sample Mendelian randomization (MR) approaches and large scale GWAS summary stats, we examined underlying causal links between ASD and ADHD and the risk of CVDs. The analysis indicated that ADHD was related to an increased likelihood of developing coronary heart disease (OR [95% CI] 1.12 [1.03, 1.21], p = .008), heart failure (OR [95% CI] 1.14 [1.07, 1.22], p = 1.45 × 10(-4)), and large-artery stroke (OR [95% CI] 1.35 [1.09, 1.66], p = .005). In parallel, ASD showed a correlation with a greater atrial fibrillation risk (OR [95% CI] 1.09 [1.03, 1.16], p = .005] and heart failure (OR [95% CI] 1.11 [1.04, 1.19], p = .004). Additionally, we explored the mediating role of CVD risk factors through two-step MR and multivariable MR, highlighting the possible role of smoking, prescription opioid use, triglycerides, education, income, Townsend deprivation index, and obesity in the causal association of ADHD, ASD, on CVDs. CONCLUSION: This MR study highlights the necessity for rigorous cardiovascular surveillance and interventions to decrease adverse cardiovascular events in people with ADHD or ASD by preventing identified mediating risk factors.