Pubmed du 29/04/24
1. Autism Across the Lifespan. Focus (Am Psychiatr Publ). 2024; 22(2): 194-5.
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2. Aguayo P, Lin AG, Stevens PT, Carbone PS, Bilder DA, Rapaport MH. A Patient-Centered Multidisciplinary Medical HOME for Persons With Intellectual and Developmental Disabilities. Focus (Am Psychiatr Publ). 2024; 22(2): 170-4.
Innovative models of medical and psychiatric care are necessary to address the complex needs of individuals with intellectual and developmental disabilities (IDD), including autism. This article describes a subspecialty medical home program that has provided accessible, comprehensive, coordinated, patient- and family-centered care for this high-needs, underserved patient population. For more than two decades, the University of Utah Huntsman Mental Health Institute Neurobehavior HOME Program (HOME) has provided primary and behavioral health care for individuals with IDD across their lifespan. Program highlights include integrated medical and behavioral health, a unique funding structure, innovative care delivery, and case management. HOME is a clinical setting as well as a Medicaid managed care plan that has blended medical and psychiatric funding streams. This unique funding structure has demonstrated the fiscal sustainability of focusing care on preventive and proactive management of health concerns and responding to crises using a coordinated and comprehensive approach. Rethinking health care delivery and adopting models that are both financially sustainable and provide quality care to this vulnerable population is greatly needed.
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3. Ahmad SR, Zeyaullah M, AlShahrani AM, Dawria A, Ali H, Mohieldin A, Altijani AA, Razi U, Mehdi M, Akram S, Hussain ER. Deciphering the Enigma of Neuron-Glial Interactions in Neurological Disorders. Front Biosci (Landmark Ed). 2024; 29(4): 142.
Innate lymphocytes, including microglial cells, astrocytes, and oligodendrocytes, play a crucial role in initiating neuroinflammatory reactions inside the central nervous system (CNS). The prime focus of this paper is on the involvement and interplay of neurons and glial cells in neurological disorders such as Alzheimer’s Disease (AD), Autism Spectrum Disorder (ASD), epilepsy, and multiple sclerosis (MS). In this review, we explore the specific contributions of microglia and astrocytes and analyzes multiple pathways implicated in neuroinflammation and disturbances in excitatory and inhibitory processes. Firstly, we elucidate the mechanisms through which toxic protein accumulation in AD results in synaptic dysfunction and deregulation of the immune system and examines the roles of microglia, astrocytes, and hereditary factors in the pathogenesis of the disease. Secondly, we focus on ASD and the involvement of glial cells in the development of the nervous system and the formation of connections between neurons and investigates the genetic connections associated with these processes. Lastly, we also address the participation of glial cells in epilepsy and MS, providing insights into their pivotal functions in both conditions. We also tried to give an overview of seven different pathways like toll-like receptor signalling pathway, MyD88-dependent and independent pathway, etc and its relevance in the context with these neurological disorders. In this review, we also explore the role of activated glial cells in AD, ASD, epilepsy, and MS which lead to neuroinflammation. Even we focus on excitatory and inhibitory imbalance in all four neurological disorders as imbalance affect the proper functioning of neuronal circuits. Finally, this review concludes that there is necessity for additional investigation on glial cells and their involvement in neurological illnesses.
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4. Aishworiya R, Valica T, Hagerman R, Restrepo B. An Update on Psychopharmacological Treatment of Autism Spectrum Disorder. Focus (Am Psychiatr Publ). 2024; 22(2): 198-211.
While behavioral interventions remain the mainstay of treatment of autism spectrum disorder (ASD), several potential targeted treatments addressing the underlying neurophysiology of ASD have emerged in the last few years. These are promising for the potential to, in future, become part of the mainstay treatment in addressing the core symptoms of ASD. Although it is likely that the development of future targeted treatments will be influenced by the underlying heterogeneity in etiology, associated genetic mechanisms influencing ASD are likely to be the first targets of treatments and even gene therapy in the future for ASD. In this article, we provide a review of current psychopharmacological treatment in ASD including those used to address common comorbidities of the condition and upcoming new targeted approaches in autism management. Medications including metformin, arbaclofen, cannabidiol, oxytocin, bumetanide, lovastatin, trofinetide, and dietary supplements including sulforophane and N-acetylcysteine are discussed. Commonly used medications to address the comorbidities associated with ASD including atypical antipsychotics, serotoninergic agents, alpha-2 agonists, and stimulant medications are also reviewed. Targeted treatments in Fragile X syndrome (FXS), the most common genetic disorder leading to ASD, provide a model for new treatments that may be helpful for other forms of ASD. Appeared originally in Neurotherapeutics 2022; 19:248-262.
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5. Alwetaid MY, Almanaa TN, Bakheet SA, Ansari MA, Nadeem A, Attia SM, Hussein MH, Attia MS, Ahmad SF. Aflatoxin B(1) Exposure Exacerbates Chemokine Receptor Expression in the BTBR T(+) Itpr3(tf)/J Mouse Model, Unveiling Insights into Autism Spectrum Disorder: A Focus on Brain and Spleen. Reprod Toxicol. 2024: 108599.
OBJECTIVE: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by significant difficulties in social interaction, communication, and repeated stereotypic behaviour. Aflatoxin B(1) (AFB(1)) is the most potent and well-known mycotoxin in various food sources. Despite its propensity to generate significant biochemical and structural changes in human and animal tissues, the influence of AFB(1) on ASD has yet to be thoroughly studied. Mounting evidence indicates that chemokine receptors play a crucial function in the central nervous system and are implicated in developing several neuroinflammatory disorders. Chemokine receptors in individuals with ASD were elevated in the anterior cingulate gyrus astrocytes, cerebellum, and brain. METHODS: The BTBR T(+)Itpr3(tf/)J (BTBR) mice are inbred strains that exhibit strong and consistently observed deficits in social interactions, characterized by excessive self-grooming and limited vocalization in social contexts. We examined the impact of AFB(1) on CCR3-, CCR7-, CCR9-, CXCR3-, CXCR4-, and CXCR6-expressing I-A/I-E(+) cells in the spleen of the BTBR mouse model of autism. We evaluated the mRNA levels of CCR3, CCR7, CCR9, CXCR3, CXCR4, and CXCR6 chemokine receptors in the brain. RESULTS: The exposure to AFB(1) in BTBR mice resulted in a significant rise in the number of I-A/I-E(+)CCR3(+), I-A/I-E(+)CCR7(+), I-A/I-E(+)CCR9(+), I-A/I-E(+)CXCR3(+), I-A/I-E(+)CXCR4(+), and I-A/I-E(+)CXCR6(+) cells. Furthermore, exposure to AFB(1) increased mRNA expression levels of CCR3, CCR7, CCR9, CXCR3, CXCR4, and CXCR6 in the brain. CONCLUSIONS: These findings highlight that AFB(1) exposure increases the expression of chemokine receptors in BTBR mice, indicating the necessity for further research into AFB(1)’s role in the development of ASD.
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6. Appel JM. Ethical and Legal Aspects in the Treatment of Autism Spectrum Disorder. Focus (Am Psychiatr Publ). 2024; 22(2): 184-8.
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7. Arutiunian V, Arcara G, Buyanova I, Fedorov M, Davydova E, Pereverzeva D, Sorokin A, Tyushkevich S, Mamokhina U, Danilina K, Dragoy O. Abnormalities in both stimulus-induced and baseline MEG alpha oscillations in the auditory cortex of children with Autism Spectrum Disorder. Brain Struct Funct. 2024.
The neurobiology of Autism Spectrum Disorder (ASD) is hypothetically related to the imbalance between neural excitation (E) and inhibition (I). Different studies have revealed that alpha-band (8-12 Hz) activity in magneto- and electroencephalography (MEG and EEG) may reflect E and I processes and, thus, can be of particular interest in ASD research. Previous findings indicated alterations in event-related and baseline alpha activity in different cortical systems in individuals with ASD, and these abnormalities were associated with core and co-occurring conditions of ASD. However, the knowledge on auditory alpha oscillations in this population is limited. This MEG study investigated stimulus-induced (Event-Related Desynchronization, ERD) and baseline alpha-band activity (both periodic and aperiodic) in the auditory cortex and also the relationships between these neural activities and behavioral measures of children with ASD. Ninety amplitude-modulated tones were presented to two groups of children: 20 children with ASD (5 girls, M(age) = 10.03, SD = 1.7) and 20 typically developing controls (9 girls, M(age) = 9.11, SD = 1.3). Children with ASD had a bilateral reduction of alpha-band ERD, reduced baseline aperiodic-adjusted alpha power, and flattened aperiodic exponent in comparison to TD children. Moreover, lower raw baseline alpha power and aperiodic offset in the language-dominant left auditory cortex were associated with better language skills of children with ASD measured in formal assessment. The findings highlighted the alterations of E / I balance metrics in response to basic auditory stimuli in children with ASD and also provided evidence for the contribution of low-level processing to language difficulties in ASD.
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8. Bartel RL, Knight JR, Worsham W, Bilder DA. Discordance Between Psychiatric Diagnoses and Medication Use in Children and Adults With Autism Presenting in Crisis. Focus (Am Psychiatr Publ). 2024; 22(2): 150-61.
Autistic individuals experience high rates of behavioral crises that present to healthcare providers for medication management. Co-occurring psychiatric conditions and psychotropic medication use are common among this patient population. Particularly for those with limited expressive language, evaluating for the presence of psychiatric and medical conditions that could contribute to distress is a critical component of crisis management. A records review study was completed on 126 autistic individuals for whom medical decision-making support was requested from The Huntsman Mental Health Institute Neurobehavior Consultation Service. Crisis manifestations and historical information were provided by the parent or caregiver through an online questionnaire. Nearly all individuals presented with behavioral (96.8%) and emotional (96.8%) symptoms; 97.6% received at least one co-occurring psychiatric diagnosis. Additionally, 75.4% of parents or caregivers endorsed the presence of a medical condition that they believed could be contributing to the crisis presentation. Most individuals (92.1%) were prescribed at least one psychotropic medication; 69.8% were taking an antipsychotic, suggesting a history of treatment resistance. The alignment between psychotropic medications and psychiatric diagnoses was evaluated in the context of prior studies and reviews on psychiatric management in autistic and neurotypical populations. Several individuals were taking a combination of medications that included both indicated and contraindicated medications for the psychiatric disorder diagnosed, likely contributing to treatment resistance. Identifying discordance between psychotropic medication use and psychiatric conditions present offers an opportunity to pursue better treatment outcomes for autistic individuals, particularly for those experiencing treatment-resistant agitation.
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9. Bilder DA. Mental Health Awareness and Support for Autistic People. Focus (Am Psychiatr Publ). 2024; 22(2): 147-9.
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10. Bougeard C, Picarel-Blanchot F, Schmid R, Campbell R, Buitelaar J. Prevalence of Autism Spectrum Disorder and Co-Morbidities in Children and Adolescents: A Systematic Literature Review. Focus (Am Psychiatr Publ). 2024; 22(2): 212-28.
OBJECTIVE: Individuals with autism spectrum disorder often present somatic and/or psychiatric co-morbid disorders. The DSM-5 allows for consideration of additional diagnoses besides ASD and may have impacted the prevalence of co-morbidities as well as being limited in capturing the true differences in prevalence observed between males and females. We describe the prevalence of ASD and frequently observed co-morbidities in children and adolescents (<18 years) in the United States and five European countries. METHODS: Two systematic literature reviews were conducted in PubMed and Embase for the period 2014-2019 and focusing on the prevalence of ASD and nine co-morbidities of interest based on their frequency and/or severity: Attention Deficit Hyperactivity Disorder (ADHD), anxiety, depressive disorders, epilepsy, intellectual disability (ID), sleep disorders, sight/hearing impairment/loss, and gastro-intestinal syndromes (GI). RESULTS: Thirteen studies on prevalence of ASD and 33 on prevalence of co-morbidities were included. Prevalence of ASD was 1.70 and 1.85% in U.S children aged 4 and 8 years respectively, while prevalence in Europe ranged between 0.38 and 1.55%. Additionally, current evidence is supportive of a global increase in ASD prevalence over the past years. Substantial heterogeneity in prevalence of co-morbidities was observed: ADHD (0.00-86.00%), anxiety (0.00-82.20%), depressive disorders (0.00-74.80%), epilepsy (2.80-77.50%), ID (0.00-91.70%), sleep disorders (2.08-72.50%), sight/hearing impairment/loss (0.00-14.90%/0.00-4.90%), and GI syndromes (0.00-67.80%). Studies were heterogeneous in terms of design and method to estimate prevalence. Gender appears to represent a risk factor for co-morbid ADHD (higher in males) and epilepsy/seizure (higher in females) while age is also associated with ADHD and anxiety (increasing until adolescence). CONCLUSION: Our results provide a descriptive review of the prevalence of ASD and its co-morbidities in children and adolescents. These insights can be valuable for clinicians and parents/guardians of autistic children. Prevalence of ASD has increased over time while co-morbidities bring additional heterogeneity to the clinical presentation, which further advocates for personalized approaches to treatment and support. Having a clear understanding of the prevalence of ASD and its co-morbidities is important to raise awareness among stakeholders.Appeared originally in Front Psychiatry 2021; 12:744709.
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11. Burke MM, Johnston AN, Cheung WC, Li C, Monárrez E, Aleman-Tovar J. Exploring the Perspectives of Parents of Individuals with Autism from Low-Resourced Communities to Inform Family Navigator Programs. J Dev Phys Disabil. 2024; 36(2): 271-92.
Family navigator programs (i.e., programs to train family navigators) are becoming increasingly common among families of children with autism. Family navigators (i.e., individuals who help families access evaluations and/or services) may be parents of children with autism themselves or health professionals. Extant research has shown that family navigators can help families receive timely diagnostic evaluations and initial services. Yet, the development of family navigator programs is unclear; by exploring the input of families of children with autism, such programs can be responsive to family needs. In this study, we extend the extent literature by exploring the lived experiences of 12 parents of autistic children from low-resourced communities to inform the development of a family navigator program. Findings demonstrated that navigator programs need to prepare navigators to address barriers such as limited knowledge and difficulty accepting an autism diagnosis. Navigator programs should teach navigators to use strategies with families including educating families about services and connecting families with peer support. Program content should reflect direct services, government services, and advocacy strategies. Notably, for true improvements to service access for all autistic children, systemic changes are also needed in the service delivery systems. Implications are discussed.
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12. Capiotto F, Romano Cappi G, Mirlisenna I, Mazza A, Cicinelli G, Lauritano C, Keller R, Dal Monte O. Autonomic and hedonic response to affective touch in autism spectrum disorder. Autism Res. 2024.
Interpersonal touch plays a crucial role in shaping relationships and encouraging social connections. Failure in processing tactile input or abnormal tactile sensitivity may hamper social behaviors and have severe consequences in individuals’ relational lives. Autism Spectrum Disorder (ASD) is characterized by both sensory disruptions and social impairments, making affective touch an ideal meeting point for understanding these features in ASD individuals. By integrating behavioral and physiological measures, we investigated the effects of affective touch on adult individuals with ASD from both an implicit and explicit perspective. Specifically, at an implicit level, we investigated whether and how receiving an affective touch influenced participants’ skin conductance tonic and phasic components. At the explicit level, we delved into the affective and unpleasant features of affective touch. Overall, we observed lower skin conductance level in ASD compared to TD subjects. Interestingly, the typically developing (TD) group showed an increased autonomic response for affective touch compared to a control touch, while ASD subjects’ autonomic response did not differ between the two conditions. Furthermore, ASD participants provided higher ratings for both the affective and unpleasant components of the touch, compared to TD subjects. Our results reveal a noteworthy discrepancy in ASD population between the subjective experience, characterized by amplified hedonic but also unpleasant responses, and the physiological response, marked by a lack of autonomic activation related to affective touch. This insightful dissociation seems crucial for a deeper understanding of the distinctive challenges characterizing people with ASD and may have implications for diagnosis and therapeutic approaches.
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13. Chen J, Zhang H, Zou Q, Liao B, Bi XA. Multi-kernel Learning Fusion Algorithm Based on RNN and GRU for ASD Diagnosis and Pathogenic Brain Region Extraction. Interdiscip Sci. 2024.
Autism spectrum disorder (ASD) is a complex, severe disorder related to brain development. It impairs patient language communication and social behaviors. In recent years, ASD researches have focused on a single-modal neuroimaging data, neglecting the complementarity between multi-modal data. This omission may lead to poor classification. Therefore, it is important to study multi-modal data of ASD for revealing its pathogenesis. Furthermore, recurrent neural network (RNN) and gated recurrent unit (GRU) are effective for sequence data processing. In this paper, we introduce a novel framework for a Multi-Kernel Learning Fusion algorithm based on RNN and GRU (MKLF-RAG). The framework utilizes RNN and GRU to provide feature selection for data of different modalities. Then these features are fused by MKLF algorithm to detect the pathological mechanisms of ASD and extract the most relevant the Regions of Interest (ROIs) for the disease. The MKLF-RAG proposed in this paper has been tested in a variety of experiments with the Autism Brain Imaging Data Exchange (ABIDE) database. Experimental findings indicate that our framework notably enhances the classification accuracy for ASD. Compared with other methods, MKLF-RAG demonstrates superior efficacy across multiple evaluation metrics and could provide valuable insights into the early diagnosis of ASD.
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14. Estes A, Hillman A, Chen ML. Sleep and Autism: Current Research, Clinical Assessment, and Treatment Strategies. Focus (Am Psychiatr Publ). 2024; 22(2): 162-9.
Autism spectrum disorder is associated with a high rate of sleep problems, affecting over 80% of autistic individuals. Sleep problems have pervasive negative effects on health, behavior, mood, and cognition but are underrecognized in autistic children. Problems initiating and maintaining sleep-hallmarks of insomnia-are common. Sleep-disordered breathing and restless legs syndrome have also been described in autism at a higher prevalence than in community populations. The authors describe current research on sleep in autistic children and potential pathophysiologic mechanisms. They describe practical approaches to sleep assessment and synthesize approaches to addressing sleep problems in autistic children.
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15. Ghahramani S, Hassani Mehraban A, Alizadeh Zarei M, Ghahramani S. Occupational Therapy Outcome Measures in Preschool Children With Autism Spectrum Disorders: A Scoping Review. OTJR (Thorofare N J). 2024: 15394492241246547.
With the rising prevalence of autism spectrum disorder (ASD), early assessment of preschool children is vital for occupational therapists. This scoping review aimed to provide detailed information about outcome measures used in occupational therapy interventions in preschool children with ASD and map the focus of the outcome measures based on the International Classification of Functioning, Disability, and Health (ICF) components. A thorough search from 2000 to 2022 was conducted that employed ICF linking rules to categorize the outcome measures. Seventy-four outcome measures were identified. They predominantly targeted body function and activity/participation, with less emphasis on environmental factors, and none assessed body structure. The most common measures were Vineland Adaptive Behavior Scale (VABS-2), Canadian Occupational Performance Measure (COPM), and Parenting Stress Index-Short Form (PSI-SF). This study offers a diverse array of outcome measures and underscores the potential of the ICF framework in enhancing evaluations, particularly concerning broader environmental components as one of the primary facilitating/hindering factors in the participation of children with ASD. Mapping the Available Tools for Occupational Therapy Effectiveness in Young Children With ASD Based on the ICF StructureIntroduction: Autism spectrum disorders (ASD) affect how people communicate and behave, with about one in 44 children having it. Early help for ASD, such as occupational therapy, is really important. Occupational therapy helps with everyday skills and makes life better. Not many studies use good ways and tools to see whether occupational therapy works for young children with ASD. The International Classification of Functioning, Disability, and Health (ICF) is a reference that helps to see how well treatments work. METHOD: We did a scoping review following steps by Arksey and O’Malley. Scoping reviews help us to find important information. We wanted to see what works in occupational therapy for young children with ASD, using the ICF. We looked at studies from 2000 to 2022 and also checked different sources for studies. We made a summary of what we found. RESULTS: We found 802 articles but only used 46 after checking. Most kids in the studies were 4 years or older. We found 74 different tools to see whether treatments worked. The most common tools were COPM, Vineland-II, and PSI-SF. These tools looked at how children move, do things, and feel. Some ways looked at how children play, talk, and connect with others. Others focused on how parents feel. Two ways, Pediatric Evaluation of Disability Inventory (PEDI) and Functional Emotional Assessment Scale (FEAS), looked at everything. Some general ways were used too. Over time, people looked more at how the environment affects children with ASD. CONCLUSION: We gathered many ways to see whether treatments work for children with ASD. The most common ones were COPM, Vineland-II, and PSI-SF. Each tool looked at different parts of how children do things. We did not see big changes in how people looked at treatments over time. Children with ASD need better ways to see whether treatments help them. We should look more at how the environment affects children. eng.
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16. Gulsrud AC, Shih W, Paparella T, Kasari C. Comparative efficacy of an early intervention « parent and me » program for infants showing signs of autism: The Baby JASPER model. Infant Behav Dev. 2024; 76: 101952.
Despite important advancements into the early detection of autism, there are still few empirically supported interventions for children under the age of two years who are showing early signs. Caregiver-mediated interventions have gained in popularity as a method for delivering support to the child and family. The current study builds on current work by enrolling a comparatively large cohort of infants (ages 12-22 months of age) displaying early signs of autism into a randomized controlled intervention program. Infants and parents received a group-based program using a standard early childhood curriculum. In addition, all families were randomly assigned to receive parent training in the form of either parent-mediated Joint Attention Symbolic Play Engagement and Regulation (JASPER) training or psychoeducation. Infants in both classrooms made substantial gains in social-communication, play, and cognition during a brief, 8-week period. All infants gained over an average of 10 points in DQ and increased in standardized measures of social-communication and play, with these gains maintaining at a 2-month follow-up visit. The classroom that also received JASPER increased in child initiated joint engagement and play level during dyadic interactions with their parents, while the classroom that received psychoeducation increased in joint attention during a standardized assessment delivered by an independent assessor. Infant familial risk for autism (older sibling with autism) also moderated the effect of treatment on child initiated joint engagement where infants in the JASPER classroom without familial risk made the most gains from baseline to exit of the program. This study highlights the promise of intervening at the earliest stages to promote positive outcomes for children and families.
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17. Hughes HK, Moreno RJ, Ashwood P. Innate Immune Dysfunction and Neuroinflammation in Autism Spectrum Disorder (ASD). Focus (Am Psychiatr Publ). 2024; 22(2): 229-41.
Autism spectrum disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by communication and social behavior deficits. The presence of restricted and repetitive behaviors often accompanies these deficits, and these characteristics can range from mild to severe. The past several decades have seen a significant rise in the prevalence of ASD. The etiology of ASD remains unknown; however, genetic and environmental risk factors play a role. Multiple hypotheses converge to suggest that neuroinflammation, or at least the interaction between immune and neural systems, may be involved in the etiology of some ASD cases or groups. Repeated evidence of innate immune dysfunction has been seen in ASD, often associated with worsening behaviors. This evidence includes data from circulating myeloid cells and brain resident macrophages/microglia in both human and animal models. This comprehensive review presents recent findings of innate immune dysfunction in ASD, including aberrant innate cellular function, evidence of neuroinflammation, and microglia activation. Appeared originally in Brain Behav Immun 2023; 108:245-254.
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18. Kata A, McPhee PG, Chen YJ, Zwaigenbaum L, Singal D, Roncadin C, Bennett T, Carter M, Di Rezze B, Drmic I, Duku E, Fournier S, Frei J, Gentles SJ, Georgiades K, Hanlon-Dearman A, Hoult L, Kelley E, Koller J, de Camargo OK, Lai J, Mahoney B, Mesterman R, Ng O, Robertson S, Rosenbaum P, Salt M, Zubairi MS, Georgiades S. The Pediatric Autism Research Cohort (PARC) Study: protocol for a patient-oriented prospective study examining trajectories of functioning in children with autism. BMJ Open. 2024; 14(4): e083045.
INTRODUCTION: The developmentally variable nature of autism poses challenges in providing timely services tailored to a child’s needs. Despite a recent focus on longitudinal research, priority-setting initiatives with stakeholders highlighted the importance of studying a child’s day-to-day functioning and social determinants of health to inform clinical care. To address this, we are conducting a pragmatic multi-site, patient-oriented longitudinal investigation: the Pediatric Autism Research Cohort (PARC) Study. In young children (<7 years of age) newly diagnosed with autism, we will: (1) examine variability in trajectories of adaptive functioning from the point of diagnosis into transition to school; and (2) identify factors associated with trajectories of adaptive functioning. METHODS AND ANALYSIS: We aim to recruit 1300 children under 7 years of age with a recent (within 12 months) diagnosis of autism from seven sites: six in Canada; one in Israel. Participants will be followed prospectively from diagnosis to age 8 years, with assessments at 6-month intervals. Parents/caregivers will complete questionnaires administered via a customized online research portal. Following each assessment timepoint, families will receive a research summary report describing their child's progress on adaptive functioning and related domains. Analysis of the longitudinal data will map trajectories and examine child, family and service characteristics associated with chronogeneity (interindividual and intraindividual heterogeneity over time) and possible trajectory turning points around sensitive periods like the transition to school. ETHICS AND DISSEMINATION: Ethics approvals have been received by all sites. All parents/respondents will provide informed consent when enrolling in the study. Using an integrated knowledge translation approach, where stakeholders are directly engaged in the research process, the PARC Study will identify factors associated with trajectories of functioning in children with autism. Resulting evidence will be shared with government policy makers to inform provincial and national programs. Findings will be disseminated at conferences and published in peer-reviewed journals.
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19. King C, Mali I, Strating H, Fangman E, Neyhard J, Payne M, Bossmann SH, Plakke B. Region-Specific Brain Volume Changes Emerge in Adolescence in the Valproic Acid Model of Autism and Parallel Human Findings. Dev Neurosci. 2024.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and communication deficits, cognitive dysfunction, and stereotyped repetitive behaviors. Regional volume changes are commonly observed in individuals with ASD. To examine volumetric dysregulation across adolescence, the valproic acid (VPA) model was used to induce ASD-like phenotypes in rats. Regional volumes were obtained via magnetic resonance imaging (MRI) at either postnatal day 28 (P28) or postnatal day 40 (P40), which correspond to early and late adolescence, respectively. Consistent with prior research, VPA animals had reduced total brain volume compared to control animals. A novel outcome was that VPA animals had overgrown right hippocampi at P40. Differences in the pattern of development of the anterior cingulate cortex were also observed in VPA animals. Differences for the posterior cingulate were only observed in males but not females. These results demonstrate differences in region-specific developmental trajectories between control and VPA animals and suggest that the VPA model may capture regional volume changes consistent with human ASD.
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20. Korteniemi J, Karlsson L, Aatsinki A. Systematic Review: Autism Spectrum Disorder and the Gut Microbiota. Focus (Am Psychiatr Publ). 2024; 22(2): 242-51.
OBJECTIVE: Autism spectrum disorders (ASD) are a varying group of disorders characterized by deficiency in social interaction and restrictive patterns of behavior and interests. While there are several studies focusing on the neuro-psychiatric pathogenesis of ASD, its etiology remains unclear. The role of gut-brain-axis in ASD has been studied increasingly and a correlation between symptoms and the composition of gut microbiota has been documented in various works. Despite this, the significance of individual microbes and their function is still widely unknown. This work aims to elucidate the current knowledge of the interrelations between ASD and the gut microbiota in children based on scientific evidence. METHODS: This is a systematic review done by a literature search focusing on the main findings concerning the gut microbiota composition, interventions targeting the gut microbiota, and possible mechanisms explaining the results in children aged between 2 and 18 years of age. RESULTS: Most studies in this review found significant differences between microbial communities, while there was notable variation in results regarding diversity indices or taxonomic level abundance. The most consistent results regarding taxa differences in ASD children’s gut microbiota were higher levels of Proteobacteria, Actinobacteria and Sutterella compared to controls. CONCLUSION: These results show that the gut microbiota of children with ASD is altered compared to one of neurotypically developed children. More research is needed to discover whether some of these features could be used as potential biomarkers for ASD and how the gut microbiota could be targeted in therapeutical interventions.Appeared originally in Acta Psychiatr Scand 2023;148:242-254.
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21. Machado AS, Dias G, I PC. Disentangling the relationship between sensory processing, alexithymia and broad autism spectrum: A study in parents’ of children with autism spectrum disorders and sensory processing disorders. Res Dev Disabil. 2024; 149: 104742.
BACKGROUND: Autistic features and sensory processing difficulties and their phenotypic co-expression with alexithymia share a transdiagnostic vulnerability. In this work, we explored whether the current concept of broad autism phenotype rather translates altered sensory processing (non-specific to autism), meaning that the characteristics of altered sensory processing should be overexpressed among individuals with heightened vulnerability to sensory processing atypicalities (parents of children with sensorial processing disorder, or SPD parents) and individuals with heightened vulnerability to autistic traits (parents of children with autism spectrum disorders, or ASD parents). In addition, the association between altered sensory processing and alexithymia was inspected. METHOD: The Adolescent/Adult Sensory Profile, Autism Spectrum Quotient, and Toronto Alexithymia Scale were completed by 31 parents of children with ASD, 32 parents of children with SPD, and 52 parents of typically developed (TD) children. RESULTS: Extreme sensory patterns were overexpressed both in parents of children with SPD and parents of children with ASD when compared to parents of TD children. In addition, extreme sensory patterns were significantly associated with alexithymia scores. Specifically, sensory avoidance, low registration, and sensory sensitivity were positively correlated with alexithymia. No significant differences were found regarding the proportion of autistic traits and alexithymia between ASD and SPD groups of parents. CONCLUSIONS: These results challenge the specificity of broad autism phenotype and suggest a neurodevelopmental atypicity with roots in altered sensory and emotional processing.
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22. Peterson T, Dodson J, Hosey T, Sherwin R, Strale F, Jr. The Effects of Applied Behavior Analysis on Verbal Behavior With Autistic Individuals Using the Verbal Behavior Milestones Assessment and Placement Program (VBMAPP) and the Assessment of Basic Language and Learning Skills (ABLLS). Cureus. 2024; 16(3): e57041.
Introduction Applied behavior analysis (ABA) is a fundamental practice-based intervention for treating autism spectrum disorder (ASD). Few studies have directly measured and evaluated the effects of ABA on verbal behaviors, mainly using the Verbal Behavior Milestones Assessment and Placement Program (VBMAPP) and the Assessment of Basic Language and Learning Skills (ABLLS) as outcome measures. This study aims to fill this gap by examining the relationship between ABA interventions and the enhancement of verbal skills, as measured by the VBMAPP and the ABLLS, in a convenience sample of individuals with ASD. Materials and methods At The Oxford Centers (TOCs) in Brighton and Troy, Michigan, USA, 33 individuals with autism received treatment from January 2018 to July 2021, spanning 43 months. A pretest-posttest design was employed to retrospectively examine any impacts between ABA interventions and alterations in verbal scores among individuals with ASD. Depending on developmental age, all subjects underwent two verbal assessments with a six-month interval in-between. Twelve children were administered the VBMAPP, while 21 were given the ABLLS. Results Paired t-tests for pretest and posttest VBMAPP subscales resulted in statistically significant effects (p<0.05) for (VBMAPP - Mand), (VBMAPP - Tact), (VBMAPP - Listener Responding), (VBMAPP - Visual Perceptual Skills and Matching-to-Sample), (VBMAPP -Independent Play), (VBMAPP - Social Play), (VBMAPP - Motor Imitation), (VBMAPP - Spontaneous Vocalization), (VBMAPP - Intraverbal), (VBMAPP - Group Behavior), and (VBMAPP - Linguistic Structure). As measured by Cohen's d, effect sizes were moderate to mostly high (-0.623 to -1.688). There were non-significant results (p>0.05) for (VBMAPP – Listener Responding by Feature, Function, and Class) and (VBMAPP – Echoic). Paired t-tests for pretest and posttest ABLLS subscales resulted in statistically significant effects (p<.05) for all ABLLS scales: (ABLLS - Receptive Language), (ABLLS - Requests), (ABLLS - Labeling), (ABLLS - Intraverbals), (ABLLS - Spontaneous Vocalizations), (ABLLS - Syntax Grammar), (ABLLS - Social Interactions), and (ABLLS - Generalized Responding). As measured by Cohen's d, effect sizes were moderate to mostly high (-0.656 to -1.372). Conclusions The administration of ABA treatments had a noteworthy influence, with statistically significant impacts on improving verbal behaviors on 11 of the 13 VBMAPP scales and all of the ABLLS scales. As measured by Cohen's d, effect sizes were moderate to high for both scales. These findings underscore the importance and effectiveness of ABA interventions in enhancing verbal skills in children with ASD. However, it's crucial to note that further confirmatory studies are required to verify the reliability of these original findings, emphasizing the ongoing need for research in this field.
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23. Rebecchi K. ‘Early childhood autism, Asperger type’, by H. Asperger (1982). Hist Psychiatry. 2024: 957154×241248261.
After his 1944 thesis, Asperger continued to write about autism, but none of these texts have been translated. At a time when autism spectrum disorder faces many challenges (e.g. the nature and measurement of autism), this text tells us more about the particular population that Asperger worked with. He describes sensitive, intelligent, creative and rational children, a far cry from the Wing triad. Moreover, ‘Asperger’s Syndrome’ was introduced after he had died, was included in the DSM-IV in 1994 and was omitted from the DSM-5 in 2013. The question posed by this last text, written before his death, is whether Asperger’s descriptions of autistic children are really part of the autism spectrum disorder or whether they are outside the pathological field.
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24. Ridgway K, Macmillan C, Demmer DH, Hooley M, Hedley D, Westrupp E, Stokes MA. Subjective wellbeing of autistic adolescents and young adults: A cross sectional study. Autism Res. 2024.
Subjective wellbeing (SWB) represents an individual’s perception of wellness that is supported by homeostatic mechanisms. These mechanisms are proposed to be maintained by low negative affect and high positive affect, although less is known about these mechanisms and SWB in autism. The current cross-sectional study aimed to compare patterns of positive affect, negative affect (Positive Affect and Negative Affect Scale), and SWB (Personal Wellbeing Index-School Children) between autistic (n = 53) and non-autistic (n = 49) individuals aged 10-22 years (M(age) = 13.97, SD = 3.13). Between-group t-tests revealed that compared with same-age peers, autistic participants scored lower SWB overall (p < 0.001). In both groups average SWB scores fell into the higher range, however, autistic participants were three-times more likely to fall below this range when compared to non-autistic participants. Negative affect had a higher intercept in the autistic sample, but no difference in slopes were observed. A hierarchical multiple regression revealed that diagnosis, positive affect, and negative affect significantly predicted SWB in our sample. Between-group t-tests found no significant difference in positive affect or negative affect across age between the autistic and non-autistic samples. In autistic participants, positive affect increased across age as SWB decreased, whilst negative affect remained stable, a pattern inconsistent with homeostatic SWB. The current study is overall consistent with the homeostatic explanation for SWB within autism; however, we identified potential differences between autistic and non-autistic participants in the contribution of positive affect and negative affect to homeostatic protect mood across development.
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25. Robinson K, Jamison J. Teaching Physician Assistant Students to Care for People With Intellectual and Developmental Disabilities. J Physician Assist Educ. 2024.
The purposes of this educational activity were to instill in students a greater empathy for patients with intellectual developmental disabilities, give students a better understanding of how to obtain a medical history for patients with communication limitations, teach students practical tips for obtaining a medical history and physical examination to increase competence in their future practice, and to build a relationship with a local organization that serves people with intellectual disabilities. An experiential learning activity was added to the curriculum of two courses for first-year PA students to accomplish these goals. The course instructors engaged in several planning meetings with a local residential facility for people with intellectual disabilities, including choosing patients that the students would assess. The students made 3 visits to the facility. The visits included interactive lectures by a physical therapist, occupational therapist, nurse practitioner, medical doctor, and dentist. Two of the facility involved patient visits at designated homes on campus. The students then wrote comprehensive visit notes with patient identifying information removed and submitted them for grading. Students expressed feeling better prepared to assess people with intellectual disabilities and having an increased appreciation for obtaining quality medical histories. The partner facility also reported they received positive feedback from staff participants and indicated they would like to continue this partnership.
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26. Son E, Alford S. Piloting a Community-Based, Culturally Adapted Health Promotion Program for Children with Autism Spectrum Disorder and Developmental Disabilities in First-Generation Korean Immigrant Families. Health Soc Work. 2024; 49(2): 105-14.
Children with autism spectrum disorder and developmental disabilities (ASD/DD) face barriers to participation in health promotion programs due to the lack of available and/or affordable programs and trained staff at recreation centers. Children with ASD/DD in Korean immigrant families are one of the most underserved minority groups due to language, racial/ethnic discrimination, and stigma and shame within their own ethnic community. However, little research is available on development, implementation, and evaluation of a culturally adapted community health promotion program in this population. The purpose of this study is to assess effectiveness of a pilot program for children with ASD/DD from first-generation Korean immigrant families. The pilot study used a quantitative, quasiexperimental design (one-group design with pre- and posttest) following a seven-week health promotion program. We recruited 15 children with ASD/DD, ages nine through 16, from first-generation Korean immigrant families. The findings of the study suggest that the pilot program was effective in gaining nutrition knowledge and increasing physical involvement among participants. Given the fact that Asian immigrants are a fast-growing population and that nearly 75 percent of them were born abroad, development and evaluation of a community-based, culturally adapted health promotion program is urgently needed.
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27. Starbrink M, Eikeseth S, Eldevik S, Edervall J. Experimental assessment of seizure-like behaviors in a girl with Rett syndrome. Epilepsy Behav Rep. 2024; 26: 100666.
Contextual events are recognized to affect seizure-like behaviors, yet there is limited research on procedures assessing contextual control. This study aimed to examine the utilization of a brief experimental precursor functional analysis within a clinical team assessment. Furthermore, the study explored if telehealth supervision could guide a parent administered replication of the functional analysis. The participants were a young female with Rett syndrome and a history of epilepsy as well as non-epileptic seizures and her mother. The functional analysis procedures consisted of the systematic alternations of contextual conditions that were hypothesized to either prevent or evoke seizure-like behaviors. The primary outcome measure was the occurrence of behavioral precursors that were identified to consequently signal subsequent seizure-like behaviors. In addition, procedure fidelity and interobserver agreement data were obtained alongside parent rating of the procedure’s social validity. The clinical functional analysis clearly suggested that the seizure-like behaviors served the function of access to attention and preferred activities. A parent administered functional analysis replicated clinical functional analysis findings. The parent’s fidelity to procedures was high and scores in social validity were excellent. The results show that functional analysis procedures could provide essential information in assessment of non-epileptic seizures. Strengths and limitations are discussed.
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28. Stubbe DE. Autism Self-Advocacy: Engaging Neurodiverse Patients in Their Care. Focus (Am Psychiatr Publ). 2024; 22(2): 189-93.
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29. Tyagi S, Katara P. A metagenome-wide association study of gut microbiome in patients with AMD, ASD, RA, T2D & VKH diseases. Comput Biol Chem. 2024; 110: 108076.
Clinical studies have already illustrated the associations between gut microbes and diseases, yet fundamental questions remain unclear that how we can universalize this knowledge. Considering the important role of human gut microbial composition in maintaining overall health, it is important to understand the microbial diversity and altered disease conditions of the human gut. Metagenomics provides a way to analyze and understand the microbes and their role in a community manner. It provides qualitative as well as quantitative measurements, in terms of relative abundance. Various studies are already going on to find out the association between microbes and diseases; still, the mined knowledge is limited. Considering the current scenario, using the targeted metagenomics approach, we analyzed the gut microbiome of 99 samples from healthy and diseased individuals. Our metagenomic analysis mainly targeted five diseased microbiomes (i.e., Age-related macular degeneration, Autism spectrum disorder, Rheumatoid arthritis, Type 2 diabetes and Vogt-Koyanagi harada), with compare to healthy microbiome, and reported disease-associated microbiome shift in different conditions.
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30. Waizbard-Bartov E, Fein D, Lord C, Amaral DG. Autism Severity and its Relationship to Disability. Focus (Am Psychiatr Publ). 2024; 22(2): 252-62.
Autism severity is currently defined and measured based exclusively on the severity levels of the two core symptom domains: social-communication and restricted or repetitive patterns of behaviors and interests. Autistic individuals, however, are often diagnosed with other medical, developmental, and psychological co-occurring conditions. These additional challenges such as intellectual disability, limited expressive and/or receptive language, and anxiety disorders, can have a tremendous impact on the day-to-day lives of autistic individuals, for both their adaptive functioning as well as their sense of wellbeing. Furthermore, the initial presentation of core symptoms and their likelihood of changing over time are influenced by the presence of such co-occurring conditions. In order to truly understand how a person’s autism impacts their life, both core symptoms as well as other challenges should be considered. This approach was recently taken by The Lancet Commission on the future of care and clinical research in autism, which proposed the term « profound autism » for a subgroup of individuals presenting with high core symptom severity, co-occurring intellectual disability, and little or no language, who require extensive long-term care. Considering other individual factors such as daily living skills, specific support needs and environmental resources would also enhance the evaluation of disability in autistic individuals. As currently employed in the assessment of intellectual disability, a multidimensional approach to autism could provide a more comprehensive system for classification of impairment. At present, however, there is no formal way to designate the combined effect of these different aspects of autism on a person’s life. A comprehensive outlook that acknowledges impairments, capabilities, co-occurring conditions, and environmental factors would be useful for identifying subgroups of individuals as well as for determining individual needs and strengths in clinical assessments. Lay Summary: The severity of a person’s autism is currently defined based on the severity of their core autism symptoms: impaired social-communication and the presence of restricted or repetitive patterns of behaviors and interests. But autistic people often face additional challenges such as intellectual disability, epilepsy, and anxiety disorder, that considerably impact their everyday life, wellbeing, and the need for support. A more complete view of autism severity, one that includes core symptoms as well as additional challenges, could help identify meaningful sub-groups of autistic individuals and could be useful in clinical care. Appeared originally in Autism Res 2023; 16:685-696.
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31. Wang XH, Wu P, Li L. Predicting individual autistic symptoms for patients with autism spectrum disorder using interregional morphological connectivity. Psychiatry Res Neuroimaging. 2024; 341: 111822.
Intelligent predictive models for autistic symptoms based on neuroimaging datasets were beneficial for the precise intervention of patients with ASD. The goals of this study were twofold: investigating predictive models for autistic symptoms and discovering the brain connectivity patterns for ASD-related behaviors. To achieve these goals, we obtained a cohort of patients with ASD from the ABIDE project. The autistic symptoms were measured using the Autism Diagnostic Observation Schedule (ADOS). The anatomical MRI datasets were preprocessed using the Freesurfer package, resulting in regional morphological features. For each individual, the interregional morphological network was constructed using a novel feature distance-based method. The predictive models for autistic symptoms were built using the support vector regression (SVR) algorithm with feature selection method. The predicted autistic symptoms (i.e., ADOS social score, ADOS behavior) were significantly correlated to the original measures. The most predictive features for ADOS social scores were located in the bilateral fusiform. The most predictive features for ADOS behavior scores were located in the temporal pole and the lingual gyrus. In summary, the autistic symptoms could be predicted using the interregional morphological connectivity and machine learning. The interregional morphological connectivity could be a potential biomarker for autistic symptoms.
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32. Watts SR. Finding Worth Amid a Life With Autism. Focus (Am Psychiatr Publ). 2024; 22(2): 180-1.
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33. Xu Y, Yu Z, Li Y, Liu Y, Li Y, Wang Y. Autism spectrum disorder diagnosis with EEG signals using time series maps of brain functional connectivity and a combined CNN-LSTM model. Comput Methods Programs Biomed. 2024; 250: 108196.
BACKGROUND AND OBJECTIVE: People with autism spectrum disorder (ASD) often have cognitive impairments. Effective connectivity between different areas of the brain is essential for normal cognition. Electroencephalography (EEG) has been widely used in the detection of neurological diseases. Previous studies on detecting ASD with EEG data have focused on frequency-related features. Most of these studies have augmented data by splitting the dataset into time slices or sliding windows. However, such approaches to data augmentation may cause the testing data to be contaminated by the training data. To solve this problem, this study developed a novel method for detecting ASD with EEG data. METHODS: This study quantified the functional connectivity of the subject’s brain from EEG signals and defined the individual to be the unit of analysis. Publicly available EEG data were gathered from 97 and 92 subjects with ASD and typical development (TD), respectively, while they were at rest or performing a task. Time-series maps of brain functional connectivity were constructed, and the data were augmented using a deep convolutional generative adversarial network. In addition, a combined network for ASD detection, based on convolutional neural network (CNN) and long short-term memory (LSTM), was designed and implemented. RESULTS: Based on functional connectivity, the network achieved classification accuracies of 81.08% and 74.55% on resting state and task state data, respectively. In addition, we found that the functional connectivity of ASD differed from TD primarily in the short-distance functional connectivity of the parietal and occipital lobes and in the distant connections from the right temporoparietal junction region to the left posterior temporal lobe. CONCLUSIONS: This paper provides a new perspective for better utilizing EEG to understand ASD. The method proposed in our study is expected to be a reliable tool to assist in the diagnosis of ASD.