Pubmed du 29/06/11

Pubmed du jour

1. Friedman C, Luxama CM. Mental and Behavioral Health, and Crisis Services for People with Intellectual and Developmental Disabilities in Medicaid Home- and Community-Based Services. J Autism Dev Disord. 2024.

People with intellectual and developmental disabilities (IDD) often have higher rates of comorbid mental health conditions compared to the general population. Yet, many people with IDD also have unmet needs for mental and behavioral health services. The aim of this study was to examine how states provided mental and behavior health, and crisis services to people with IDD in their Home- and Community-Based Services (HCBS) programs, the largest funding mechanism for Long-Term Services and Supports (LTSS) for people with IDD in the United States. We analyzed fiscal year (2021) Medicaid HCBS waivers for people with IDD from across the United States to examine if and how they provided mental and behavior health, and crisis services. States projected spending $968.9 million for mental and behavior health, and crisis services for 190,299 people with IDD. Applied behavior analysis services were provided at greater rates than positive behavior supports and other forms of behavior interventions. While most states provided mental and behavior health, and crisis services in their waivers, there were vast inconsistencies in how they did so, across states, waivers, and services. HCBS are a crucial safety net to ensure people with IDD, especially those who also have mental health disabilities, can live and thrive in their communities.

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2. Jeong JH, Kim SW, Yu JC, Won SH, Lee SH, Kim SH, Kang SH, Kim E, Chung YC, Lee KY. Clinical, cognitive, and functional characteristics of recent-onset psychosis with autistic features: A 2-year longitudinal study. Schizophr Res. 2024; 270: 304-16.

Though categorized as separate illnesses, schizophrenia and autism are known to exhibit shared characteristics. This study explored the distinctions in clinical, cognitive, and functional characteristics among individuals with recent-onset psychosis, considering the severity of their autistic symptoms, involving longitudinal examinations. We analyzed 671 patients with recent-onset psychosis from Korean Early Psychosis Cohort Study (KEPS), and used the PANSS Autism Severity Score (PAUSS) to categorize patient into ‘autistic’, ‘moderate’, and ‘non-autistic’ groups. The autistic group had the highest rate of schizophrenia diagnosis, and the lowest incidence of comorbid psychiatric disorders. Schizophrenia diagnosis predicted membership of the autistic group. More severe autistic symptoms correlated with worse overall symptoms and functional outcomes, which significantly predicted membership of the autistic group. Cognitive impairments and emotional recognition difficulties increased with the severity of autistic symptoms. 2-year longitudinal assessments demonstrated that group differences in autistic features and overall symptoms, and functional outcomes remained consistent, and membership of the autistic group significantly predicted symptomatic remission and functional recovery. In conclusion, the presence of autistic symptoms has a significant impact on the overall symptomatology and functional capabilities. They are enduring attributes rather than temporary state variables, and serve as a significant predictor for both symptomatic and functional recovery.

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3. Khound M, Ghosh S, Kaushik JS. Enhancing Skills for Early Detection and Management of Autism in Schools. Indian J Pediatr. 2024.

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4. Kourdougli N, Nomura T, Wu M, Heuvelmans A, Dobler Z, Contractor A, Portera-Cailliau C. The NKCC1 inhibitor bumetanide restores cortical feedforward inhibition and lessens sensory hypersensitivity in early postnatal fragile X mice. Biol Psychiatry. 2024.

BACKGROUND: Exaggerated responses to sensory stimuli, a hallmark of Fragile X syndrome (FXS), contribute to anxiety and learning challenges. Sensory hypersensitivity is recapitulated in the Fmr1 knockout (KO) mouse model of FXS. Recent studies in Fmr1 KO mice have demonstrated differences in activity of cortical interneurons and a delayed switch in the polarity of GABA signaling during development. Previously, we reported that blocking the chloride transporter NKCC1 with the diuretic bumetanide, could rescue synaptic circuit phenotypes in primary somatosensory cortex (S1) of Fmr1 KO mice. However, it remains unknown whether bumetanide can rescue earlier circuit phenotypes or sensory hypersensitivity in Fmr1 KO mice. METHODS: We used acute and chronic systemic administration of bumetanide in Fmr1 KO mice and performed in vivo 2-photon calcium imaging to record neuronal activity, while tracking mouse behavior with high-resolution videos. RESULTS: We demonstrate that layer (L) 2/3 pyramidal neurons in S1 of Fmr1 KO mice show a higher frequency of synchronous events at postnatal day (P) 6 compared to wild-type controls. This was reversed by acute administration of bumetanide. Furthermore, chronic bumetanide treatment (P5-P14) restored S1 circuit differences in Fmr1 KO mice, including reduced neuronal adaptation to repetitive whisker stimulation, and ameliorated tactile defensiveness. Bumetanide treatment also rectified the reduced feedforward inhibition of L2/3 neurons in S1 and boosted the circuit participation of parvalbumin interneurons. CONCLUSIONS: This further supports the notion that synaptic, circuit, and sensory behavioral phenotypes in Fmr1 KO can be mitigated by inhibitors of NKCC1, such as the FDA-approved diuretic bumetanide.

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5. Lozano I, Belinchón M, Campos R. Sensitivity to temporal synchrony and selective attention in audiovisual speech in infants at elevated likelihood for autism: A preliminary longitudinal study. Infant Behav Dev. 2024; 76: 101973.

Autism Spectrum Disorder is a highly heritable condition characterized by sociocommunicative difficulties, frequently entailing language atypicalities that extend to infants with a familial history of autism. The developmental mechanisms underlying these difficulties remain unknown. Detecting temporal synchrony between the lip movements and the auditory speech of a talking face and selectively attending to the mouth support typical early language acquisition. This preliminary eye-tracking study investigated whether these two fundamental mechanisms atypically function in infant siblings. We longitudinally tracked the trajectories of infants at elevated and low-likelihood for autism in these two abilities at 4, 8, and 12 months (n = 29). We presented two talking faces (synchronous and asynchronous) while recording infants’ gaze to the talker’s eyes and mouth. We found that infants detected temporal asynchronies in talking faces at 12 months regardless of group. However, compared to their typically developing peers, infants with an elevated likelihood of autism showed reduced attention to the mouth at the end of the first year and no variations in their interest to this area across time. Our findings provide preliminary evidence on a potentially atypical trajectory of reduced mouth-looking in audiovisual speech during the first year in infant siblings, with potential cascading consequences for language development, thus contributing to domain-general accounts of emerging autism.

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6. Mittal P, Bhadania M, Tondak N, Ajmera P, Yadav S, Kukreti A, Kalra S, Ajmera P. Effect of immersive virtual reality-based training on cognitive, social, and emotional skills in children and adolescents with autism spectrum disorder: A meta-analysis of randomized controlled trials. Res Dev Disabil. 2024; 151: 104771.

BACKGROUND: Virtual Reality (VR) based diagnostic and therapeutic interventions have opened up new possibilities for addressing the challenges in identifying and treating individuals with Autism Spectrum Disorders (ASD). AIM: To conduct a systematic review and meta-analysis of Randomized Controlled Trials to investigate the impact of Immersive VR techniques on the cognitive, social, and emotional skills of under-18 children and adolescents with ASD. METHODS AND PROCEDURES: Four databases were systematically searched as per « Preferred Reporting Items for Systematic Reviews and Meta-analyses » guidelines and assessed six RCTs for further analysis. The Cochrane Risk of Bias tool was used to assess the methodological quality of the studies. OUTCOMES: Pooled results favoured VR and reported significant differences between experimental and control groups concerning social skills (SMD:1.43; 95 % CI: 0.01-2.84; P: 0.05), emotional skills (SMD: 2.45; 95 % CI: 0.21-4.18; P: 0.03) and cognitive skills. CONCLUSION: VR offers an array of benefits that make it a promising tool for children and adolescents with ASD to improve their cognitive, social and emotional skills in a safe and supportive setting. However, accessibility, affordability, customization, and cost are also significant aspects to consider when developing and implementing VR-based interventions for ASD.

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7. Papastamou F, Dumont C, Destrebecqz A, Kissine M. Predictive Processing During Cue-Outcome Associative Learning in Autistic Children. J Autism Dev Disord. 2024.

PURPOSE: Predictive coding theories posit that autism is characterized by an over-adjustment to prediction errors, resulting in frequent updates of prior beliefs. Atypical weighting of prediction errors is generally considered to negatively impact the construction of stable models of the world, but may also yield beneficial effects. In a novel associative learning paradigm, we investigated whether unexpected events trigger faster learning updates in favour of subtle but fully predictive cues in autistic children compared to their non-autistic counterparts. We also explored the relationship between children’s language proficiency and their predictive performances. METHODS: Anticipatory fixations and explicit predictions were recorded during three associative learning tasks with deterministic or probabilistic contingencies. One of the probabilistic tasks was designed so that a fully predictive but subtle cue was overshadowed by a less predictive salient one. RESULTS: Both autistic and non-autistic children based their learning on the salient cue, and, contrary to our predictions, showed no signs of updating in favour of the subtle cue. While both groups demonstrated associative learning, autistic children made less accurate explicit predictions than their non-autistic peers in all tasks. Explicit prediction performances were positively correlated with language proficiency in non-autistic children, but no such correlation was observed in autistic children. CONCLUSION: These results suggest no over-adjustment to prediction errors in autistic children and highlight the need to control for general performance in cue-outcome associative learning in predictive processing studies. Further research is needed to explore the nature of the relationship between predictive processing and language development in autism.

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8. Pardej SK, Mayes SD. Correction: Prevalence and Correlates of Poor Safety Awareness and Accidental Injury in ASD, ADHD, ASD + ADHD, and Neurotypical Youth Samples. J Autism Dev Disord. 2024.

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9. Stein Elger R, Chowdhury SK, Pacheco Garrillo M, Sauls R, Sundaramurugan S, Rozen E, Puri H, Brice DJ, Liu J, Bakour C, Kirby RS. The Role of Adverse Childhood Experience in the Relationship Between Autism Severity and Early Intervention and Special Education Plan. J Autism Dev Disord. 2024.

The purpose of this study is to examine the association between autism spectrum disorder (ASD) severity and having a special education or early intervention plan and the impact of adverse childhood experiences (ACEs) on this association. This study used the 2020-2021 National Survey of Children’s Health (NSCH) and included 2,537 children aged 3-17 years old who currently have ASD. Multivariable logistic regression, controlling for demographic and family characteristics and health status, was used to explore the association between autism severity and having an early intervention plan. The analysis was stratified by the number of ACEs to explore their role in the association. Children with moderate or severe ASD were more likely to have a special education or early intervention plan than those with mild ASD in the crude and adjusted models. This association continued to be true for children who experienced 1 ACE (aOR: 2.28, 95%CI: 1.09-4.77) but not true for those who experienced no ACEs (aOR: 1.16, 95%CI: 0.70-1.94) and 2 or more ACEs (aOR: 1.84, 95%CI: 0.92-3.69). Results demonstrate that children with moderate or severe autism were more likely to receive early intervention or special education. This association changed depending on the number of ACEs experiences.

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10. Tigga NP, Garg S, Goyal N, Raj J, Das B. Brain-region specific autism prediction from electroencephalogram signals using graph convolution neural network. Technol Health Care. 2024.

BACKGROUND: Brain variations are responsible for developmental impairments, including autism spectrum disorder (ASD). EEG signals efficiently detect neurological conditions by revealing crucial information about brain function abnormalities. OBJECTIVE: This study aims to utilize EEG data collected from both autistic and typically developing children to investigate the potential of a Graph Convolutional Neural Network (GCNN) in predicting ASD based on neurological abnormalities revealed through EEG signals. METHODS: In this study, EEG data were gathered from eight autistic children and eight typically developing children diagnosed using the Childhood Autism Rating Scale at the Central Institute of Psychiatry, Ranchi. EEG recording was done using a HydroCel GSN with 257 channels, and 71 channels with 10-10 international equivalents were utilized. Electrodes were divided into 12 brain regions. A GCNN was introduced for ASD prediction, preceded by autoregressive and spectral feature extraction. RESULTS: The anterior-frontal brain region, crucial for cognitive functions like emotion, memory, and social interaction, proved most predictive of ASD, achieving 87.07% accuracy. This underscores the suitability of the GCNN method for EEG-based ASD detection. CONCLUSION: The detailed dataset collected enhances understanding of the neurological basis of ASD, benefiting healthcare practitioners involved in ASD diagnosis.

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11. Wong CM, Tan CS, Riard N, Padmini YS, Daniel LM, Prasath A, Tan AM, Tan TC, Sultana R, Lam JCM. Autologous umbilical cord blood infusion for the treatment of autism in young children: A within-subjects open label study on safety (assessed via caregiver report) and efficacy. Autism Res. 2024.

This study aimed to document the safety and efficacy of a single infusion of autologous umbilical cord blood (UCB) in 20 autistic children aged 24-72 months. A pre-post treatment within-subjects open label design was used. At T = 0, 6, 12, and 18 months, participants underwent detailed and structured safety evaluations (via caregiver report), Vineland Adaptive Behavior Scale (Vineland-3), Stanford Binet Intelligence Scale (SB-5), Expressive One-Word Picture Vocabulary Test, Brief Observation of Social Communication Change (BOSCC), Pervasive Developmental Disorder-Behavior Inventory, Repetitive Behavior Scale-Revised, Sensory Experience Questionnaire (SEQ-2.1), Child Behavior Checklist, Clinical Global Impression-Severity and Improvement (CGI-I) Scales, and eye-gaze tracking. UCB infusion was conducted at T = 6 months, hence, 0-6 months was the control period, and 6-18 months the follow-up period. Of 20 children recruited, 19 completed the study and 1 was withdrawn due to UCB not meeting quality control criteria for infusion. There were 15 males and 4 females with an overall mean (SD) age of 4.15 (0.62) years. Mean (SD) cell dose administered was 38.16 (9.82) million cells/kg. None suffered serious adverse events although there were mild behavioral side effects and one unit grew coagulase negative staphylococcus from a post-thaw sample. There were no significant differences in Vineland-3, SB-5, BOSCC, and SEQ-2.1 scores at T = 12 and T = 18 months. Twelve participants had T = 18 CGI-I scores of 2-3 (minimally to much improved), seven participants had scores of 4 (no change). Autologous UCB infusion in autistic children is generally safe but not without risks, including that of infection. In this within-subjects study, some children showed global symptom improvements while others showed no change. Stem cell therapies for autism should only be conducted under strict clinical trial conditions with clear risk discussions.

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12. Wright JR, Astrovskaya I, Barns SD, Goler A, Zhou X, Shu C, Snyder LG, Han B, Shen Y, Volfovsky N, Hall JB, Feliciano P, Chung WK. Return of genetic research results in 21,532 individuals with autism. Genet Med. 2024: 101202.

PURPOSE: The aim of this study is to identify likely pathogenic (LP) and pathogenic (P) genetic results for autism that can be returned to participants in SPARK (SPARKforAutism.org): a large recontactable cohort of people with autism in the United States. We also describe the process to return these clinically confirmed genetic findings. METHODS: We present results from microarray genotyping and exome sequencing (ES) of 21,532 individuals with autism and 17,785 of their parents. We returned LP and P (American College of Medical genetics (ACMG) criteria) copy number variants (CNVs), chromosomal aneuploidies, and variants in genes with strong evidence of association with autism and intellectual disability. RESULTS: We identified 1903 ‘returnable’ LP/P variants in 1861 individuals with autism (8.6%). 89.5% of these variants were not known to participants. The diagnostic genetic result was returned to 589 participants (53% of those contacted). Features associated with a higher probability of having a returnable result include cognitive and medically complex features, being female, being White (versus non-White) and being diagnosed more than 20 years ago. We also find results among autistics across the spectrum, as well as in transmitting parents with neuropsychiatric features but no autism diagnosis. CONCLUSION: SPARK offers an opportunity to assess returnable results among autistic people who have not been ascertained clinically. SPARK also provides practical experience returning genetic results for a behavioral condition at a large scale.

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