International research and practice conference «Autism. Challenges and Solutions» covers a broad set of issues related to autism and autism spectrum disorders (ASD). The conference is envisioned not only as an experience sharing event, but also as an attempt to deal with a serious medical and social problem which is not getting its fare share of attention in most countries.
Comparison of Sedentary Behavior and Physical Activity between Children with Autism Spectrum Disorder (ASD) and the Controls
Many health organizations and scientific associations agree that physical activity (PA) improves children and youth's overall quality of life and offers essential health benefits [1],[2], and they advise engaging in moderate-to-vigorous PA for at least 60 minutes each day. [3] Lowered levels of PA are thought to put children and young people with disabilities at higher risk of obesity. The assessment of physical activity level required continue follow up , therefor ActiGraph monitor (GT3X+), which records kids' entire body movements and unstructured play activities like standing, sitting, walking, climbing stairs, running, and cycling. Actigraph accelerometers are thought to be reliable tools for determining kids' sedentary time and physical activity time because they can measure a kid's orientation and immature motor movements with accuracy.
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Exploring Seizures in Autism: What You Need to Know
Autism Spectrum Disorder (ASD) is a complex condition that affects how individuals interact, communicate, and engage in repetitive behaviors. Many individuals with ASD also experience seizures, contributing to the diverse nature of the disorder. This presentation aims to explore the connection between epilepsy and ASD, taking a comprehensive look at the definitions and criteria of epilepsy. It will delve into the prevalence of epilepsy among those with ASD, discussing key factors influencing their co-occurrence. The talk will also address the neuropathological mechanisms in the brain behind seizures in autism. Additionally, it will offer insights into recognizing different seizure types and practical advice on when to use EEGs for accurate diagnosis. This will be followed by an exploration of antiepileptic drugs and their role in tailored treatment strategies for epilepsy within the intricate context of autism.
Diet change and microglia ablation of MeCP2e1 deficient mice affect the Rett-like disease symptoms in a sex-dependent manner.
Rett syndrome (RTT) is a complex neurodevelopmental disorder that occurs in 1 in 10,000 births. Approximately 95% of RTT patients are females heterozygous for the X-linked gene methyl CpG binding protein 2 (MECP2) mutations. They are thus mosaic for wild-type and mutant MECP2 expression at a cellular level. RTT has symptoms similar to autism spectrum disorder (ASD) and is usually confirmed with genetic testing following an ASD diagnosis. Typical brain development requires MECP2-encoded MeCP2e1. Analysis of our MeCP2e1 deficient mouse model suggests that microglia contribute to RTT-like gait defects, gut microbiome, and metabolic changes, as activated microglia have been shown to accelerate disease progression. Thus, we hypothesized that pre-symptomatic pharmacologic ablation of microglia would ameliorate RTT-like phenotypes in MeCP2e1 mutant mice. Therefore, PLX3397 a CSF1R/c-kit inhibitor dissolved in a purified AIN-76A chow at 290 PPM was orally administered to wild-type and mutant mice, either acutely for 2 weeks (from 4-6 weeks of age) or chronically for 19 weeks (from 4-23 weeks of age) to ablate microglia in their brains and compared to vehicle controls. Untreated mice on the standard mouse diet were also compared to the vehicle control. The wild-type and Mecp2e1 mutant littermates were weekly weighed and scored for neuro-phenotypes. Gait, fecal cytokines, fecal short-chain fatty acids, and gut microbial composition were assessed in all mice before, during, and after disease onset. Surprisingly, neither acute nor chronic PLX3397 treatment significantly reduced neuro-phenotype scores in either mutant females or mutant male mice. Instead, chronic PLX3397 treatment significantly elevated disease severity in mutant females compared to mutant vehicle controls. However, chronic PLX3397 treatment significantly reduced weight gain over time in wild-type and mutant males compared to male vehicle controls but not in wild-type or mutant females compared to female vehicle controls. Interestingly, the use of Envigo AIN-76A chow reduced disease severity overall in mutant female and mutant male mice compared to a previous study where wild-type and male and female mice were fed PicoLab mouse diet, and this is possibly due to differences in lipid composition between the standard and the purified diets. Neither gait, stride length, nor organ weight were significantly altered by acute or chronic PLX3397 treatment in mutant females or mutant males. Although targeting microglia with PLX3397 did not reduce disease severity as expected in mutant female or mutant male mice, the results of this study, together with our prior investigations of lipid deficiencies, suggest a potentially novel dietary intervention for the treatment of ASD.
Mitochondrial abnormalities and oxidative stress in Autism: Impact of genetic and environmental factors
Autism is a neurodevelopmental disorder associated with social deficits and behavioral abnormalities. According to the Centers for Disease Control and Prevention (CDC), 1 in 36 children is affected with autism in the United States. Accumulating evidence suggests that oxidative stress and mitochondrial dysfunction may provide a link between susceptibility genes and pre- and post-natal environmental risk factors in the pathophysiology of autism. The free radicals, i.e., reactive oxygen species (ROS) are generated endogenously during oxidative metabolism and energy (ATP) production by mitochondria. We compared the status of ROS-mediated oxidative damage, glutathione antioxidant status, monoamine oxidase A (MAOA) activity, as well as mitochondrial functions assessed by studying expression and activities of mitochondrial electron transport chain (ETC) complexes and pyruvate dehydrogenase (PDH), as well as mitochondrial biogenesis in postmortem brain tissue samples from the cerebellum and frontal, temporal, parietal and occipital cortices of autistic subjects and age-matched normal subjects. In the cerebellum, frontal cortex, and temporal cortex of subjects with autism, the oxidation of lipid, protein and DNA was increased, glutathione antioxidant defense was impaired, and mitochondrial ETC complexes (I, III and V) and PDH were decreased as compared with age-matched controls. On the other hand, parietal and occipital cortices were unaffected in autism. In addition, MAOA activity was lower that can explain elevated levels of related neurotransmitters such as serotonin in autism. The mitochondrial biogenesis was impaired in the brain of subjects with autism. The high energy demand of the developing brain, thus, may trigger a cascade of structural and functional changes leading to the autistic phenotype if mitochondrial functions are impaired and the energy need of the brain is not fulfilled. In this presentation, the potential role of genetic and environmental factors (such as bisphenol A) in increasing the vulnerability to oxidative stress and mitochondrial abnormalities in autism will also be discussed.
Longitudinal developmental trajectories of young autistic children: influence of culture, diet, pretend play, and various activities
Humans are extremely sensitive to cultural circumstances of their early childhood. In a series of studies, we explored the developmental trajectories of children with autism over a span of three years, focusing on five outcome measures reported by parents: language comprehension, expressive language, sociability, sensory awareness, and overall health. In a study of diet and food consumption (N= 5,553), gluten-free diet was associated with 1.5-fold greater improvement of language comprehension (p < 0.0001) 1; meat- and eggs-eating was associated with 1.6-fold greater improvement of language comprehension (p < 0.0001); vegetable-eating was associated with 1.5-fold greater improvement of language comprehension (p < 0.0001) and 1.2-times greater improvement of expressive language (p = 0. 0137). Consumption of fast carbohydrates – sweets and bread – was associated with a significant and consistent health score decline (p < 0.0001) 1. In a study investigating the effect of passive video and television watching (N= 3,227), shorter video and television watching were associated with 1.4-fold greater improvement in language comprehension (p = 0.0128) 2. In a study of the effect of pretend play (N= 7,069), pretend play was associated with 1.9-fold greater improvement of language comprehension (p < 0.0001) and 1.4-fold greater improvement of expressive language (p < 0.0001) 3. In a study of the effect of joint-engagement (N=12,081), high joint-engagement was associated with 1.4-times greater improvement of language comprehension (p = 0.0019), 1.5-times greater improvement of expressive language (p < 0.0001), and 1.5-times greater improvement of sensory awareness (p = 0.0248) 4. In a study of the effect of sleep (N=8,540), moderate and severe sleep problems were associated with significant health decline (p < 0.0001) and lower sociability improvement (p = 0.0426) 5. In a study of the effect of a gamified language comprehension exercise (N=6,454), engaging with the exercises was associated with 2.2-times greater improvement of language comprehension (p < 0.0001) and 1.4-tiems greater improvement of expressive language (p = 0.0144) 6. In a study of language acquisition critical period, autistic children learning-rate declined exponentially several years earlier than in typical children, (N=15,183). The short language acquisition critical period makes autistic children especially vulnerable to the impact of early experiences.
Diving dipper into error correction procedures in ABA, their pros and cons.
This presentation delves into the intricate landscape of error correction procedures within Applied Behavior Analysis (ABA). Error correction procedures play a pivotal role in the efficacy of ABA interventions, aiming to address and rectify errors made during the learning process. The presentation will look deeper into different error correction techniques, including prompt fading, errorless learning, and differential strategies of error correction. By exploring the nuanced area of error correction procedures, this presentation aims to offer insights into optimizing ABA practices while considering the unique characteristics and needs of each learner. Furthermore, the discussion will evaluate the pros and cons of using various error correction procedures within the framework of ABA interventions. While some techniques may foster rapid skill acquisition and reduce instances of errors, they might inadvertently impede the development of independent problem-solving skills and hinder generalization across different contexts. Conversely, other strategies, although promoting independence and generalization, may entail a slower learning curve and necessitate more extensive time and resources. By carefully weighing the advantages and disadvantages of each error correction approach, this presentation will help practitioners with the knowledge and understanding needed to develop ABA interventions effectively to meet the unique needs and goals of individuals in ABA therapy
Psychopharmacology in children and adolescents: unmet needs and opportunities
Psychopharmacological treatment is an important component of the multimodal intervention approach to treating mental health conditions in children and adolescents. Currently, there are many unmet needs but also opportunities, alongside possible risks to consider, regarding the pharmacological treatment of mental health conditions in children and adolescents. In this Position Paper, we highlight and address these unmet needs and opportunities, including the perspectives of clinicians and researchers from the European College of Neuropsychopharmacology–Child and Adolescent Network, alongside those of experts by lived experience from national and international associations, via a survey involving 644 participants from 13 countries, and of regulators, through representation from the European Medicines Agency. We present and discuss the evidence base for medications currently used for mental disorders in children and adolescents, medications in the pipeline, opportunities in the development of novel medications, crucial priorities for the conduct of future clinical studies, challenges and opportunities in terms of the regulatory and legislative framework, and innovations in the way research is conducted, reported, and promoted.
Updates on Genetics and Genomics Research in ASD
Autism spectrum disorder (ASD) is a heterogenous condition with a wide range of elements contributing to its presentation, including both common and rare genetic variants, as well as environmental and developmental factors. In rare instances, ASD is associated with known syndromes such as tuberous sclerosis, 22q11 microdeletion or Down syndrome. Over the past two decades, as a result of revolutionary technology including Next Generation Sequencing (NGS) and Optical Genome Mapping (OGM), autism genetics research grew rapidly leading to large number of discoveries, including new genetic loci, hundreds of alterations in the genetic sequence, expression, epigenetic transformation, and interactions with other physiological and environmental systems have been found in association with ASD. The present work is aimed to characterize a cohort of 100 pediatric patients aged between 3 and 12 years, affected by non-syndromic ASD according to the DSM-V. This approach has allowed the identification of causative genetic variants in at least seven families. The identified variants were harbored in well-known genes involved in the pathogenesis of autism spectrum disorder and non-syndromic mental retardation, such as TNIK and SHANK3. Potentially causative variants have also been identified in susceptibility ASD genes, such as SHANK2 and NRXN3. Interestingly, rare de novo and compoud heterozygous variants have also been identified in genes never described before in association with ASD, but related to nervous system development, mantainance and functional regulation. By using molecular modeling and dynamics simulation techniques, we are investigating the impact of this variants on the protein stability and interaction network, thereby providing a preliminary assessment of its mechanistic role. In conclusion, here we discuss the results obtained in this study and the recent advances in the ASD genetics and genomics, to better understand role of of the ASD- associated genetic factors. The future of genetic research, due to interdisciplinary collaborations, could facilitate the personalized medicine as well as genetic counselling and early intervention strategies.
Phenotypes and mechanisms: Probing autism in and outside the lab
Autism Spectrum Conditions are behaviourally defined, which highlights the need to focus on understanding the behavioural phenotype. Many autistic people experience challenges in social-communicative behaviour. A theoretical account suggests that atypical response to social rewards plays a causal role in such challenges. In our lab, we developed and tested different paradigms to create new ways to quantify the response to social rewards in autism, and reveal new insights into its underpinning mechanisms. This research, like the majority of autism research worldwide, takes place within Europe and the USA. To move beyond these artificial boundaries in another strand of our research, we studied the autistic phenotype in >11000 Indian schoolchildren. This set of studies not only allowed us to build an autism research toolkit in India, but also provided critical insights into the impact of socio-linguistic factors on the manifestation of autism. The final strand of our ongoing research connects the research within and outside the laboratory through the development of a mobile app to help with digital phenotyping of autism-related features in the general population. The aim of this app is for non-specialists to be able to identify autism in low-resource settings through scalable phenotypic assessments that tap performance in multiple behavioural domains.
Advancing Inclusion: Autism Perspectives in Lebanon and Jordan
The inclusion of individuals with Autism Spectrum Disorder (ASD) remains a pivotal yet challenging endeavor in global communities at all ages. This abstract shed light on the specific contexts of Lebanon and Jordan, two Middle Eastern nations striving to foster inclusive environments for individuals with ASD. Despite varying socio-cultural landscapes, both countries encounter similar barriers and exhibit promising initiatives towards inclusivity. In Lebanon, the journey towards autism inclusion intersects with multifaceted challenges stemming from socio-economic disparities, limited access to specialized services, and societal stigma. Nonetheless, grassroots efforts, bolstered by the commitment of advocacy groups, behavior analysts and educators, are reshaping perceptions and paving the way for inclusive practices in educational settings and societal integration. Conversely, Jordan grapples with comparable hurdles in its pursuit of autism inclusion. While governmental support and policy frameworks lay foundations for progress, gaps in implementation and resource allocation persist. Collaborative ventures between governmental bodies, non-governmental organizations, and the private sector underscore a burgeoning movement towards inclusive education and employment opportunities, signaling a shift towards a more inclusive society.
Dental Management of children with ASDDental Management of children with ASD
Autism Spectrum Disorder (ASD) is a broad term used to define a multiple neuro-developmental disorder that affects children as early as 1-3 years of age. Children and young people with ASD frequently experience a range of cognitive (thinking), learning, emotional and behavioral disorders. The majority have attention deficit hyperactivity disorder (ADHD), anxiety, seizures, mental and social deficiencies with extremely poor Oral Hygiene and underserved dental services. Treating patients with ASD is considered one of the greatest challenges for dentists in general and pediatric dentists in specific.
Genetic and pathogenic overlaps between autism and Alzheimer’s disease: opportunities for drug repurposing
Autism spectrum disorder (ASD) and Alzheimer’s disease (AD) are neurodevelopmental and neurodegenerative disorders respectively that share common clinical features, such as language impairment, executive functions, and cognitive problems. Proteomic analysis of autism and Alzheimer’s mouse models reveal common alterations in mTOR signaling pathway. Alterations in the mTOR signaling pathway during critical stage of development could lead to improper connectivity in the brain, which play a role in the pathogenesis of ASD. At the same time mTOR inhibitor rapamycin has been shown to prevent (and possibly restore in some cases) the memory deficit in the mouse model of Alzheimer's disease as well as reduce Aβ and tau aggregation, and reduce microglia activation. We conducted a bioinformatic analysis of signaling pathways for sets of genes for ASD and Alzheimer's disease: sets of genes predisposing to ASD (from the SFARI database) and to AD have 148 common genes, 75 of them are directly related to mTOR. We have constructed and analyzed gene networks reflecting the relationship of ASD and AD with innate immunity and autoimmune diseases. The genes with the largest number of connections have been identified: CTNNB1, CREBBP, TRAF2, HDAC1, HDAC2, etc., which may be targets for therapy. Based on a large percentage of mTOR-related ASD and AD genes, we searched for mTOR molulators used in AD therapy with potential for ASD therapy. To do this, using ANDVisio tools, networks were built based on three fragments of the mTOR path: PI3K/Akt, Ras and p38 MAPK. We have proposed several pharmacological mTOR modulators already used in AD therapy, which have the potential for ASD.
Precision microbial intervention improves social behavior in autistic children
Treatments for Autism spectrum disorder (ASD), which is characterized by impairments in social interaction, deficits in communication and the presence of restricted/repetitive behaviors, remain elusive. The gut-microbiota-brain axis is an emerging potential new therapeutic target. Specifically, preclinical studies show that L. reuteri selectively reversed social deficits in several models of ASD. In a double-blind, randomized, placebo-controlled trial, we found that a combination of Lactobacillus strains did not alter overall autism severity or restricted/repetitive behaviors, but considerably improved social functioning across different measures in children with ASD. Intriguingly, we found that the prosocial effect of probiotic treatment was strain-specific in a preclinical ASD mouse model. Collectively, our findings indicate that probiotic treatment improves social behavior in ASD children, thereby warranting larger trials. Moreover, we analyzed several biological factors, such as microbiome composition or immune profile, and we performed correlative studies with behavioral improvement to find potential factors associated with probiotic response.These correlative studies are helpful for improving diagnosis and treatment. In fact, our results offer potential as biomarkers to reduce the diagnostic heterogeneity, and improve the prediction of treatment response.
Omega-3 fatty acid supplementation in autism spectrum disorder is there a benefit: An unanswered question? we can answer together
Autism spectrum disorder (ASD) is a well-known neurodevelopmental illness with significant medical variance. There is controversy surrounding the effectiveness of omega-3 supplementation as an evidence-based treatment of symptoms of ASD. The link between autism and nutrition also opens up the possibility of early dietary intervention that could protect against the development of autism or prevent autism symptoms. This idea opens up exciting new avenues for research into dietary supplement therapy, which may improve the quality of life for people with autism and their families. Epidemiological studies show an increasing trend in the annual prevalence of ASD with a prevalence of four to five times more in boys than girls. The average prevalence of ASD in Asia, Europe and North America is estimated at 1%, with a prevalence of 0.14 to 2.9% in the Arab countries around Arabian gulf. 1 in 36 eight years old were identified in ASD in 2020.in animals and human studies show the antioxidant effect of ω3-PUFAs.ther are conflict of the effect of omega 3 in autistic children. A systematic review by Qawasmi et al ,2011 identified that omega-3 supplementation improved attention deficiency and hyperactivity in children with autism. In the line Omega-3 treatment decreased hyperactivity and stereotyped behavior, according to Amminger et al. investigation on omega-3 fatty acid supplementation in autistic children. Another study found that giving children with ASD an omega-3 supplement for 12 weeks reduced their hyperactivity. The relationship between maternal dietary fat intake before or during pregnancy and ASD in children was studied by Lyall et al. found that maternal linoleic acid consumption was strongly linked to an increased incidence of ASD. Finding of ElAnsary et al., indicated that autistic children plasma fatty acid concentrations had altered, with an increase in saturated fatty acids other than propionic acid and a decrease in PUFA. Children at risk for ASD had better language development after receiving omega-3 and omega-6 supplements for three months. Systematic review showed that omega-3 supplementation decreased hyperactivity and inattentiveness in autistic children. According to a different study, giving children who had the lowest starting reading levels an omega-3 supplement enhanced their reading abilities.The use of omega-3 supplements may also have some positive effects on schizophrenia and depression . Another study done by Richardson et al., found EPA (3 g) or fish oil (10 g/d) reduced symptoms of depression, attention deficit hyperactivity disorder (ADHD), dyslexia, and dyspraxia disorder in autistic children. Particularly in the central nervous system, DHA and EPA play important roles in the synthesis of membrane phospholipids. Macronutrients, such as omega-3 fatty acids, are thought to play a neuroprotective role in the production of synaptic maintenance, modulation of brain cell signaling, regulation of monoamines production, and receptor signal transduction pathway, which may help to explain the role of omega-3 in psychiatric diseases like autism . Because they influence ASD through their effects on brain structure and function, neurotransmission, cell membrane structure, and microbial domain organization, omega-3 PUFAs and their metabolic products provide as a strong basis. DHA is significantly more abundant in neural and synaptic membranes, which suggests that it plays a significant role in neuronal cell signaling. The inner layer of synaptic membranes, where it is preferentially absorbed into phosphatidylethanolamine and phosphatidylserine, results in either DHA- or cholesterol-rich lipid rafts due to its sterile incompatibility with cholesterol. Additionally, DHA has an impact on protein function, phase behavior, fusion, ion permeability, fluidity of membrane fatty acid chains, and more. In contrast systematic and meta-analysis conclude that supplementing with Omega 3 did not improve the performance of autistic children. However, caution is needed when interpreting these findings. To our knowledge, no outcome—positive or negative—has been repeated in additional studies. To better understand the effects of supplementation with -3 FAs, if any, on functional outcomes in children with ASD, large, high-quality RCTs with multidisciplinary teams are still required. In this presentation togather we will answer the question is omega -3 has benefit of ADS. Autism spectrum disorder (ASD) is a well-known neurodevelopmental illness with significant medical variance. There is controversy surrounding the effectiveness of omega-3 supplementation as an evidence-based treatment of symptoms of ASD. The link between autism and nutrition also opens up the possibility of early dietary intervention that could protect against the development of autism or prevent autism symptoms. This idea opens up exciting new avenues for research into dietary supplement therapy, which may improve the quality of life for people with autism and their families. Epidemiological studies show an increasing trend in the annual prevalence of ASD with a prevalence of four to five times more in boys than girls. The average prevalence of ASD in Asia, Europe and North America is estimated at 1%, with a prevalence of 0.14 to 2.9% in the Arab countries around Arabian gulf. 1 in 36 eight years old were identified in ASD in 2020.in animals and human studies show the antioxidant effect of ω3-PUFAs.ther are conflict of the effect of omega 3 in autistic children. A systematic review by Qawasmi et al ,2011 identified that omega-3 supplementation improved attention deficiency and hyperactivity in children with autism. In the line Omega-3 treatment decreased hyperactivity and stereotyped behavior, according to Amminger et al. investigation on omega-3 fatty acid supplementation in autistic children. Another study found that giving children with ASD an omega-3 supplement for 12 weeks reduced their hyperactivity. The relationship between maternal dietary fat intake before or during pregnancy and ASD in children was studied by Lyall et al. found that maternal linoleic acid consumption was strongly linked to an increased incidence of ASD. Finding of ElAnsary et al., indicated that autistic children plasma fatty acid concentrations had altered, with an increase in saturated fatty acids other than propionic acid and a decrease in PUFA. Children at risk for ASD had better language development after receiving omega-3 and omega-6 supplements for three months. Systematic review showed that omega-3 supplementation decreased hyperactivity and inattentiveness in autistic children. According to a different study, giving children who had the lowest starting reading levels an omega-3 supplement enhanced their reading abilities.The use of omega-3 supplements may also have some positive effects on schizophrenia and depression . Another study done by Richardson et al., found EPA (3 g) or fish oil (10 g/d) reduced symptoms of depression, attention deficit hyperactivity disorder (ADHD), dyslexia, and dyspraxia disorder in autistic children. Particularly in the central nervous system, DHA and EPA play important roles in the synthesis of membrane phospholipids. Macronutrients, such as omega-3 fatty acids, are thought to play a neuroprotective role in the production of synaptic maintenance, modulation of brain cell signaling, regulation of monoamines production, and receptor signal transduction pathway, which may help to explain the role of omega-3 in psychiatric diseases like autism . Because they influence ASD through their effects on brain structure and function, neurotransmission, cell membrane structure, and microbial domain organization, omega-3 PUFAs and their metabolic products provide as a strong basis. DHA is significantly more abundant in neural and synaptic membranes, which suggests that it plays a significant role in neuronal cell signaling. The inner layer of synaptic membranes, where it is preferentially absorbed into phosphatidylethanolamine and phosphatidylserine, results in either DHA- or cholesterol-rich lipid rafts due to its sterile incompatibility with cholesterol. Additionally, DHA has an impact on protein function, phase behavior, fusion, ion permeability, fluidity of membrane fatty acid chains, and more. In contrast systematic and meta-analysis conclude that supplementing with Omega 3 did not improve the performance of autistic children. However, caution is needed when interpreting these findings. To our knowledge, no outcome—positive or negative—has been repeated in additional studies. To better understand the effects of supplementation with -3 FAs, if any, on functional outcomes in children with ASD, large, high-quality RCTs with multidisciplinary teams are still required. In this presentation togather we will answer the question is omega -3 has benefit of ADS.
Importance of cross-department cooperation in pediatric medical services around ASD. Neurology and otolaryngology fall flat being separated: case of the clinic.
The Autism Spectrum Disorders (ASD) are a heterogeneous group of developmental abnormalities, with clinical appearance in neurological, otolaryngological, and general pediatric deficits. For many years, using extended hearing examination approach, which includes otoscopy, tympanometry, otoacoustical emission, auditory brainstem response (short-latency evoked potentials), multi-ASSR evoked potentials (auditory steady-state response) we postulated that classical professional otolaryngological approach is completely unapplicable to children with ASD. Since 2018 only in one clinic we registered 2404 (on the date 19th January 2024) multi-ASSR responses in children with speech delay and ASD. It turned up in 938 (~39%) diagnosed incomplete hearing loss and otolaryngological problems (including interfered cases). Problems in auditory processing has even greater percentile, but it is uncounted in the view strugling of finding correct criteria. In research guided by Efimova Viktoria, Nikolaeva Elena, Frolovskaya Olga 495 children were examined (245 – ASD, 250 – speech delay) using correlation analysis which showed a connection between the diagnosis of autism and the perception of frequencies of 500 Hz right (r=0.436), 500 Hz left (r=0.238), 2000 Hz right (r=0.355), 4000 Hz right (r=0.390). Therefore, the diagnosis of autism is associated with the perception of frequencies studied, in mainly on the right, that is, going to the left hemisphere. Summarizing our experience of last 10 years, we manifest that full hearing examination and ASD-orientated otolaryngological examination crucially important in and autism-related medical center.
ANRC Guidelines for Comprehensive Nutritional Support for Autism
Children and adults with autism often have self-limited diets with insufficient intake of vegetables, fruit, protein, and essential fatty acids. Also, due to metabolic differences, they often need additional nutritional support. This presentation will summarize the positive results of several randomized clinical trials of a special vitamin/mineral/micronutrient supplement for autism, and the positive results of a comprehensive nutritional support study involving vitamins/minerals/micronutrients, fish oil, Epsom salts, carnitine, digestive enzymes, and a healthy allergen-free diet. The results of those studies resulted in the ANRC Guidelines for Comprehensive Nutritional Support, available from the Autism Nutrition Research Center
CTRP3 as a novel biomarker in the plasma of Saudi children with autism
Background: C1q/tumor necrosis factor-related protein-3 (CTRP3) has diverse functions: anti-inflammation, metabolic regulation, and protection against endothelial dysfunction.Methods: The plasma level of CTRP3 in autistic patients (n = 32) was compared to that in controls (n = 37) using ELISA. Results: CTRP3 was higher (24.7% with P < 0.05) in autistic patients than in controls. No association was observed between CTRP3 and the severity of the disorder using the Childhood Autism Rating Scale (CARS). A positive correlation between CARs and the age of patients was reported. Receiver operating characteristic (ROC) analysis demonstrated a low area under the curve (AUC) for all patients (0.636). Low AUCs were also found in the case of severe patients (0.659) compared to controls, but both values were statistically significant (P ≤ 0.05). Despite the small sample size, we are the first to find an association between CTRP3 and autism spectrum disorder (ASD).
The Heart of Service Delivery: Creating Connected Relationships
At the intersection of technical precision and compassionate care lies the heart of service delivery. Join Dr. Megan DeLeon in this captivating presentation as we unravel the significance of creating meaningful connections with our clients. While we excel in crafting impeccable intervention plans, let's not overlook the pivotal role of rapport building. Dr. Megan DeLeon, a leading expert in the field, draws from her extensive research and experience to unveil strategies that will empower you to cultivate and fortify trusting and connected teaching relationships with your clients. • Explore the art of creating a positive first experience during the initial stages of intervention, setting the stage for trust and collaboration. Delve into the science behind building trust over time, nurturing relationships that stand the test of time. • Witness the transformative power of collaboration between behavior analysts and clients, fostering an environment of shared growth. Walk away from this enlightening presentation armed with practical insights and real-world examples that can be seamlessly integrated into your work with individuals of all ages—children, adolescents, and adults alike.
Fragile X syndrome and Autism Spectrum Disorder: Is ASD in FXS ‘true’ ASD?
Autism & Fragile X syndrome are intertwined as they share some neurochemical similarities. Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males. The actual worldwide prevalence is affecting 1:5000–7000 men and 1:4000–6000 women. In Egypt, the prevalence of FXS mutation among Egyptian males was 0.9 per 1000. Moreover, it was 6.4% among mentally subnormal males. ASD is a common comorbid condition in people with fragile X syndrome (FXS). Fragile X Syndrome is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5′ UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. On the other hand, autism is a multifactorial polygenetic disorder. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden. Here, we will present evidences from a variety of sources suggesting that there are important differences in ASD symptoms, behavioral and psychiatric correlates, and developmental trajectories between individuals with comorbid FXS and ASD and those with non-syndromic ASD. “Is ASD in FXS ‘true’ ASD?”. Answering this question is critically important, because of recent claims that targeted pharmaceutical treatments found to be efficacious for core symptoms of FXS are likely to be beneficial for individuals with non-syndromic ASD as well. The aim of this review relying on our previous studies & publications was to gather the current clinical, associated co-morbidities and molecular knowledge about FXS compared to autism population to provide clinicians with a tool to guide the initial assessment and follow-up of FXS. This will offer an update about the current diagnostic procedures to laboratory workers and researchers. In conclusion, neurobiological substrates of the behavioral impairments, including those reflecting core ASD symptoms, are different in FXS and non-syndromic ASD. We still believe that the study of FXS can provide insights into non-syndromic ASD. Proper diagnosis can help to follow the transmission pattern of the CGG repeats to give correct genetic counseling.
Validation of plasma protein glycation and oxidation biomarkers for the diagnosis of autism
Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder in children. It is currently diagnosed by behavior-based assessments made by observation and interview. In 2018 we reported a discovery study of a blood biomarker diagnostic test for ASD based on a combination of four plasma protein glycation and oxidation adducts. The test had 88% accuracy in children 5 – 12 years old. Herein, we present an international multicenter clinical validation study (N = 478) with application of similar biomarkers to a wider age range of 1.5 – 12 years old children. Three hundred and eleven children with ASD (247 male, 64 females; age 5.2 ± 3.0 years) and 167 children with typical development (94 male, 73 female; 4.9 ± 2.4 years) were recruited for this study at Sidra Medicine and Hamad Medical Corporation hospitals, Qatar, and Hospital Regional Universitario de Málaga, Spain. For subjects 5 – 12 years old, the diagnostic algorithm with features, advanced glycation endproducts (AGEs) - Nε-carboxymethyl-lysine (CML), Nω-carboxymethylarginine (CMA) and 3-deoxyglucosone-derived hydroimidazolone (3DG-H), and oxidative damage marker, o,o’-dityrosine (DT), age and gender had accuracy 83% (CI 79 – 89%), sensitivity 94% (CI 90 – 98%), specificity 67% (CI 57 – 76%) and area-under-the-curve of receiver operating characteristic plot (AUROC) 0.87 (CI 0.84 – 0.90). Inclusion of addition plasma protein glycation and oxidation adducts increased the specificity to 74%. An algorithm with 12 plasma protein glycation and oxidation adduct features was optimum for children of 1.5 – 12 years old: accuracy 74% (CI 70 – 79%), sensitivity 75% (CI 63 – 87%), specificity 74% (CI 58 – 90%) and AUROC 0.79 (CI 0.74 – 0.84). We conclude that ASD diagnosis may be supported using an algorithm with features of plasma protein CML, CMA, 3DG-H and DT in 5 – 12 years-old children, and an algorithm with additional features applicable for ASD screening in younger children. ASD severity, as assessed by ADOS-2 score, correlated positively with plasma protein glycation adducts derived from methylglyoxal, hydroimidazolone MG-H1 and Nε(1-carboxyethyl) lysine (CEL). The successful validation herein may indicate that the algorithm modifiable features are mechanistic risk markers linking ASD to increased lipid peroxidation, neuronal plasticity and proteotoxic stress.
7P medicine as a new healthcare model in the context of management and treatment of children with ASD and other neurodevelopmental disorders
Background: A significant increase in the prevalence of autism spectrum disorders (ASD) all over the world dictates the need to search for modern and effective methods of prevention, diagnosis and health care for such patients. At the same time, the results of numerous biomedical research in the field of autism are not reflected in real practical healthcare. Aims: Substantiation of a new model of health care for children with ASD. Materials and methods: The results of promising areas of autism research in the field of genetics, epigenetics, metabolomics, microbiome and multimorbidity, which marked a paradigm shift in the understanding of autism spectrum disorders, and requiring implementation in practice, are studied. Results: Based on the concept of 7P medicine (programming child development and health, preventive, predictive, personalized, participatory, multiprofessional, progressive), the necessity and possibility of implementing the results of scientific research into real clinical practice of managing children with autism are substantiated. Conclusion: The results of fundamental scientific research in the field of ASD, revealing their complex and multifaceted nature, allow us to talk about a paradigm shift in understanding this disorder Based on a new concept of medical care — 7P-medicine — the results of scientific research can be translated into real clinical practice, including diagnostic, therapeutic, preventive and rehabilitative effects on autism, as well as programming of the optimal trajectory of the cognitive-behavioral phenotype of children with neurodevelopmental disorders, including ASD.
Genetic Frontiers in Autism: Unveiling New Paths for Diagnosis and Intervention
In this ground-breaking study, we unveil the first diagnostic protocol that leverages genetic testing for autism and developmental disorders in children. By meticulously analyzing genetic data from a cohort of 245 children with diverse developmental profiles, including neurotypical individuals, our research has revealed significant genetic underpinnings for various symptoms. Remarkably, the identification of preventable mutations suggests new avenues for intervention, emphasizing the critical role of non-heritable mutations in developmental challenges. The study provides novel insights into prevalent mutations regionally and globally, illustrating the impact of genetics on pediatric development. Supported by real-world case studies, our findings highlight the transformative potential of early genetic diagnosis in managing and potentially eradicating symptoms, marking a significant advancement towards personalized medicine in the field of pediatric developmental disorders.
Treating Emotion Disregulation with Mindfulness: Mindfulness-Based Group Cognitive Therapy for Children with autism
Children with autism spectrum disorder experience behavioral and emotional symptoms hypothesized to arise from emotion dysregulation (ED), difficulty modulating emotional experience, expression, and intensity in an acceptable and contextually appropriate manner. Mindfulness-Based Cognitive Group Therapy for Children with ASD can be a valuable intervention for children with autism, because it allows them to better understand their emotional processes, helps them develop focus and self-regulation.
Advances in Personalized Medicine to Treat Autism
No drug has yet been approved to treat the core symptoms of autism. For over half a century attempts have been made to repurpose existing drugs to treat autism. Clinical trials go back to the 1970s. Even in these early “failed” trials there usually were those who responded to the treatment. Personalized medicine seeks to treat just one person and accepts that behind an autism diagnosis lie a myriad of possible dysfunctions. The usual attempts to find a one-size-fits-all therapy are doomed from the start. Great steps forward are possible be reevaluating the existing research and past clinical trials to identify a personalized polytherapy to treat cognitive dysfunction, aggression, lack of speech, sound sensitivity, anxiety, stereotypy and other problem areas. Each individual with severe autism should have their own polytherapy. Some elements will be lifelong, while others are likely to change as the child get older, approaches puberty and then adulthood. Autism is dynamic and new challenges may well appear and then therapy needs to be adjusted.
Artichoke (Cynara scolymus L.) as nutritional intervention strategy on propionic acid-induced rodent model of autism spectrum disorders.
The connection between nutrition and autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by notable delays or deviations in interaction and communication, has offered a novel perspective and suggests that nutrition may contribute to the development of ASD in addition to being a useful treatment modality by reducing symptoms Therefore, the majority of people with ASD employ nutritional therapies to reduce gastrointestinal and behavioral symptoms, both with and without therapeutic supervision A potent source of antioxidants and minerals, artichoke extract may be utilized to reduce oxidative damage related chronic non communicable diseases. Here, we evaluated Nutritional Intervention therapy's effects on the PPA model of autism by biochemical means. 42 male Sprague Dawley albino rat pups, split into seven groups, were employed in our study. Throughout the course of the 30-day trial, the control group was only given water and a typical diet. As a mouse model of ASD, the theird group was fed a usual diet until the end of the trial, after which they were given 250 mg/kg body weight (BW) of propionic acid (PPA) orally for three days. The second group was the PPA-induced ASD model, which was given a regular diet for 27 days before being given 250 mg/kg of PPA orally for three days. The other group was given artichokes (400 mg/kg) and luteolin (50 mg/kg) daily for 27 days, followed by three days of PPA (250 mg/kg BW) in addition to their regular diet. After receiving PPA (250 mg/kg body weight (BW)) for three days, the other two groups were given a regular diet along with 400 mL/kg BW/day of artichokes and 50 mg/kg BW/day of luteolin, which is the main antioxidant and anti-inflammatory component of artichokes, for a total of 27 days. Brain homogenates from all groups were evaluated using biochemical marker measurements, which included gamma-aminobutyric acid (GABA), reduced glutathione (GSH), glutathione peroxidase (GPx1), tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and interleukin-10 (IL-10). The results revealed that luteolin, a prebiotic found in artichokes, was useful in reducing the biochemical symptoms of ASD, even while PPA caused oxidative stress and neuroinflammation in the treated rats. Nutritional and pharmacological properties of artichoke are attributed mainly to polyphenolic compounds and inulin present at high concentration. Other classes of chemical compounds, including flavonoids, anthocyanins, sesquiterpenes, and triterpenes have been also found in the plant at lower amounts
The possible role of sodium leakage channel localization factor-1 in the pathophysiology and severity of autism spectrum disorders
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social, stereotypical, and repetitive behaviors. Neural dysregulation was proposed as an etiological factor in ASD. The sodium leakage channel (NCA), regulated by NLF-1 (NCA localization factor-1), has a major role in maintaining the physiological excitatory function of neurons. We aimed to examine the level of NLF-1 in ASD children and correlate it with the severity of the disease. We examined the plasma levels of NLF-1 in 80 ASD and neurotypical children using ELISA. The diagnosis and severity of ASD were based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), Childhood Autism Rating Score, Social Responsiveness Scale, and Short Sensory Profile. Then, we compared the levels of NLF-1 with the severity of the disease and behavioral and sensory symptoms. Our results showed a significant decrease in the plasma levels of NLF-1 in ASD children compared to neurotypical children (p < 0.001). Additionally, NLF-1 was significantly correlated with the severity of the behavioral symptoms of ASD (p < 0.05). The low levels of NLF-1 in ASD children potentially affect the severity of their behavioral symptoms by reducing neuron excitability through NCA. These novel findings open a new venue for pharmacological and possible genetic research involving NCA in ASD children.
Gamma-band neural activity and its relation to language skills and core symptoms of Autism Spectrum Disorder
Neurobiological studies of the past decade have suggested that the imbalance between neural excitation (E) and inhibition (I) in the neural systems is one of the key pathophysiological mechanisms in autism. Cortical gamma-band oscillations (30–100Hz) measured with electro- and/or magnetoencephalography (EEG/MEG) is considered as a non-invasive measure of E/I balance and, thus, they are of particular interest in autism research. In the talk, the results of the different multi-site projects in the U.S. addressed EEG-based biomarkers of autism will be presented. First, in a group of ~300 children with and without autism, using a syllable comprehension task in EEG, we showed the elevation of gamma activity in children with autism and this pathological increase of power was associated with worse behavioral language skills. Second, in a group of ~200 infants (6 and 12 months old) with and without elevated risk for developing autism, using another EEG task (presentation of videos consisting social vs. nonsocial content), similar elevation of gamma activity was observed in infants at high risk for developing autism and this increase of power was related to worse communication clinical outcome at 24 months. Finally, in a group of ~200 children with and without autism in a simple resting-state EEG paradigm, we observed increased gamma power in children with autism and this increase was associated with lower non-verbal IQ and higher presence of autistic traits. Importantly, cluster-based analysis revealed subgroups of children with autism based on the gamma power with both increased and reduced power, pointing to non-linear relationships between neural activity and clinical measures (“U” shaped functioning with extreme low and high values representing altered functioning). The results of the studies suggested that, indeed, altered E/I balance is associated with clinical characteristics of children with autism.
The Healthy Baby Roadmap: An Actionable Strategy for Reducing the Risk of Chronic Illness in Children Starts with Preconception and Pregnancy
The incidence of chronic illness in children has reached epidemic proportions., In the US, one out of 2 children may be diagnosed with conditions such as Autism, ADHD, anxiety, depression, asthma, allergies, eczema and autoimmune disease, among others. The research is clear that maternal health, nutrition and lifestyle, both prior to conception and throughout pregnancy can influence the risk of having a child with a chronic illness. Parents deserve to be informed and empowered to reduce these risks for their future children. We will review current literature, with a focus on identifying actionable steps to support parents-to-be.
GABA and Glutamate Imbalance in Autism and Their Reversal as Novel Hypothesis for Effective Treatment Strategy: An update
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by reduced social communication and repetitive behaviors. The etiological mechanisms of ASD are still unknown; however, the GABAergic system has received considerable attention due to its potential as a therapeutic target. Based on the fact that individuals with autism demonstrate altered gene expression concomitant with impaired blood brain barrier (BBB), and gut barrier integrities, so increased glutamate levels in the blood and platelets of ASD patients can be related to lower numbers of cerebellar GABAergic neurons, less active GABA-synthesizing enzymes, and decreased brain GABA levels. Excitotoxic levels of released glutamate trigger a cascade of deleterious cellular events leading to delayed neuronal death. According to our understanding of glutamate excitotoxicity, GABA supplementation could theoretically be useful to treat certain autistic phenotypes. While there is still no effective and safe medication for glutamate-related cell damage and death, combined efforts will hopefully develop better treatment options. Here I hypothesize that an integrated treatment strategy with GABA supplements, regulation of chloride (Cl-) and magnesium (Mg2+) levels, vitamin D supplements, probiotics to enhance GABAA receptor and glutamate decarboxylase (GAD) expression, and memantine to activate glutamate transporters and inhibit NMDA receptors, could collectively reduce glutamate levels, maintain functional GABA receptors and thus treat repetitive behavior, impaired social behavior, and seizure activity in individuals with autism.
Best Practices in Sex Education for Autistic Learners
The purpose of sex education is to facilitate the gaining of knowledge, skills, and values to make healthy and informed sexual decisions. There is limited research on sexuality and individuals with autism spectrum disorder (ASD) in the field of behavior analysis, but we do know that people with such conditions tend to have less sexual knowledge than their neurotypical peers. As parents, educators, and service providers, we can share information on sexual behavior in effective ways tailored to the developmental abilities of those we serve on the autism spectrum, empowering them to make informed decisions about their bodies, relationships, and values. This presentation will describe current challenges related to sexuality and disabilities, review current behavior analytic research on sexuality, and discuss best practices for teaching learners about sexuality to improve health, safety, and quality of life.