Pubmed du 02/02/20

dimanche 2 février 2020

1. Al-Dewik N, Al-Jurf R, Styles M, Tahtamouni S, Alsharshani D, Alsharshani M, Ahmad AI, Khattab A, Al Rifai H, Walid Qoronfleh M. Overview and Introduction to Autism Spectrum Disorder (ASD). Advances in neurobiology. 2020 ; 24 : 3-42.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and adulthood. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities. It is a disorder with multifactorial etiology. In this chapter, we will focus on the most important and common epidemiological studies, pathogenesis, screening, and diagnostic tools along with an explication of genetic testing in ASD.

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2. Al-Dewik N, Alsharshani M. New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 43-81.

Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinctive abnormalities of human cognitive functions, social interaction, and speech development.Nowadays, several genetic changes including chromosome abnormalities, genetic variations, transcriptional epigenetics, and noncoding RNA have been identified in ASD. However, the association between these genetic modifications and ASDs has not been confirmed yet.The aim of this review is to summarize the key findings in ASD from genetic viewpoint that have been identified from the last few decades of genetic and molecular research.

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3. Al-Kindi NM, Al-Farsi YM, Al-Bulushi B, Ali A, Rizvi SGA, Essa MM. Food Selection and Preferences of Omani Autistic Children. Advances in neurobiology. 2020 ; 24 : 505-23.

BACKGROUND : Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core deficits in social interactions, verbal/nonverbal communication, and restricted, repetitive, and stereotyped behaviors. Children with ASD are known to have several feeding problems that are believed to affect their nutritional and health status. AIM : The present study was designed to assess the food preferences in Omani children diagnosed with ASD compared with controls. METHODS : A case-control study was conducted in which 375 children (males and females) aged between 4 and 13 years were recruited. The sample consisted of 163 children with ASD and a control group of 212 typically developing (TD) children. For each participant, demographic, anthropometric, and medical information and information regarding dietary intakes were gathered using the food frequency questionnaire (FFQ) to assess their food preferences. RESULTS : The sociodemographic characteristics of caregivers were similar in the two groups, while their perceptions based on several nutritional parameters were different. Children’s age and body mass index (BMI) were similar in both groups, while the number of male children was higher in ASD group (P < 0.001). Problematic behaviors including food refusal and selectivity were significantly higher in ASD children than in TD children. Despite that, the children with ASD were found to consume mostly traditional Omani dishes. CONCLUSION : This is the first study that provides information on the eating habits and nutritional intake of Omani children diagnosed with ASD. The overall findings are promising and may contribute to further understanding of food preferences in children with ASD in Oman. Such information is highly valuable for the prevention and management of nutritional deficiencies among Omani children with autism by improving their diet quality.

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4. Bakthavachalu P, Kannan SM, Qoronfleh MW. Food Color and Autism : A Meta-Analysis. Advances in neurobiology. 2020 ; 24 : 481-504.

Autism has been increasing dramatically since its description by Leo Kanner in 1943. The Centers for Disease Control and Prevention (CDC) in 2018 has identified 1 in 59 children (1 in 37 boys and 1 in 151 girls) has autism spectrum disorder (ASD). Autistic spectrum disorders and ADHD are complex conditions in which nutritional and environmental factors play major roles. It is important to understand how food can have an impact on their current and future health. Appealing food colors stimulate the consumption of different food products. Since 2011, it is evident that dyes are linked to harmful effects in children. Artificial dyes have neurotoxic chemicals that aggravate mental health problems. Many families with autistic children avoid food dyes in their diet in order to avoid behavioral issues. A study reported that there is a correlation between yellow dye and sleep disturbance. Food colors Blue 1 and 2, Green 3, Red 3, Yellow 5 and 6, Citrus Red 2, and Red 40 can trigger many behaviors in most kids. Artificial food color usually contains petroleum and is manufactured in a chemical process that includes formaldehyde, aniline, hydroxides, and sulfuric acids. Most impurities in the food color are in the form of salts or acids. Sometimes lead, arsenic, and mercury may be present as impurities. The U.S. FDA is yet to study the effects of synthetic dyes on behavior in children. A study conducted at Southampton University in England found a link between food dyes and hyperactive behavior in children. The research does not prove that food coloring actually causes autism spectrum disorder, but there seems to be a link. This chapter attempts to provide a broad review of the available literature on food color and the epidemiology, etiology, prevention, and treatment of autistic spectrum disorder.

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5. Banire B, Khowaja K, Mansoor B, Qaraqe M, Al Thani D. Reality-Based Technologies for Children with Autism Spectrum Disorder : A Recommendation for Food Intake Intervention. Advances in neurobiology. 2020 ; 24 : 679-93.

Food selectivity by children with autism spectrum disorder (ASD) is relatively high as compared to typical children and consequently puts them at risk of nutritional inadequacies. Thus, there is a need to educate children with ASD on food types and their benefits in a simple and interesting manner that will encourage food acceptance and enable a move toward healthy living. The use of technological intervention has proven to be an effective tool for educating children with ASD in maintaining attention and mastering new skills as compared to traditional methods. Some of the popularly used technologies are computer-based intervention and robotics which do not support ecological validity (i.e., mimicking natural scenario). Consideration of natural factors is essential for better learning outcomes and generalized skills which can easily be incorporated into reality-based technologies such as virtual reality, augmented reality, and mixed reality. These technologies provide evidence-based support for ecological validation of intervention and sustaining the attention of children with ASD. The main objective of this study is to review existing reality-based technology intervention for children with ASD and investigate the following : (1) commonly used reality-based technology, (2) types of intervention targeted with reality-based technology, and (3) what subjects’ inclusion types are used in the reality-based interventions. These objective statements have guided our recommendation of reality-based technology that can support ecological validity of food intake intervention.

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6. Bastaki KN, Alwan S, Zahir FR. Maternal Prenatal Exposures in Pregnancy and Autism Spectrum Disorder : An Insight into the Epigenetics of Drugs and Diet as Key Environmental Influences. Advances in neurobiology. 2020 ; 24 : 143-62.

Autism spectrum disorder (ASD) is a rapidly growing global pandemic that affects an estimated 1 in 59-68 children. It is a complex disease with both genetic and environmental etiologies. Due to the rapid increase in the incidence of ASD, environmental causes for ASD are gaining attention. Efforts to probe several environmental exposures that could contribute to causing ASD are underway. In this regard, this chapter is directed towards understanding prenatal exposure to key environmental factors i.e., drugs and dietary nutrients that may act via the same molecular pathway - epigenetics as a potential etiological factor for ASD. Epigenetic regulation is a molecular mechanism known to be a significant contributor to neurodevelopmental disorders. It also offers a means to explain how environmental exposures can impact genetics. We discuss the impact of maternal exposures to certain drugs, and dietary intake, on the developing fetus during pregnancy. Maternal Exposure to some drugs during gestation are associated with a higher risk of ASD, while exposure to other dietary compounds may offer promise to rescue epigenetic regulatory insults related to ASD. However, more work in this important area is still required, nevertheless preliminary research already has important implications in the understanding, prevention and treatment of ASD.

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7. Bhandari R, Paliwal JK, Kuhad A. Dietary Phytochemicals as Neurotherapeutics for Autism Spectrum Disorder : Plausible Mechanism and Evidence. Advances in neurobiology. 2020 ; 24 : 615-46.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with symptoms ranging from lack of social interaction and communication deficits to rigid, repetitive, and stereotypic behavior. It has also been associated with comorbidities such as anxiety, aggression, epilepsy, deficit in sensory processing, as well as ADHD (attention deficit hyperactivity disorder). Apart from several behavioral and cognitive complications arising as a result of central nervous system dysfunction, there are various physiological comorbidities such as immune system deregulation, neuroinflammation, oxidative stress, mitochondrial dysfunction, and gastrointestinal complications which can worsen existing behavioral complications. There are no available treatments for these physiological comorbidities. The prevalence of gastrointestinal complications in ASD ranges from 9% to 70% and it correlates with behaviors consistent with the autistic endophenotype indicating that these are one of the major comorbidities associated with ASD. A strong connection of gut-brain cross talk occurs as a result of gut dysbiosis responsible for excessive production of short-chain fatty acids such as propanoic acid (PPA) by abnormal gut flora in ASD patients. This worsens behavioral, neurochemical, and mitochondrial dysfunction occurring in ASD. These physiological comorbidities are responsible for the generation of free radical species that cause immune system dysfunction leading to synthesis of various pro-inflammatory cytokines and chemokines. This in turn causes activation of microglia. Dietary phytochemicals are thought to be safer and useful as an alternative neurotherapeutic moiety. These compounds provide neuroprotection by modulating signaling pathways such as Nrf2, NF-kappaB, MAPK pathway or Sirtuin-FoxO pathway. There has been recent evidence in scientific literature regarding the modulation of gut-brain cross talk responsible for behavioral, biochemical, and mitochondrial dysfunction as well as cellular and behavioral sensory alterations by dietary phytochemicals such as curcumin, resveratrol, naringenin, and sulforaphane. These dietary phytochemicals can be formulated in novel brain-targeted delivery systems which overcome their limitation of low oral bioavailability and short half-life leading to prolonged action. Till date, not much work has been done on the development of brain-targeted neurotherapeutics for ASD. In this chapter we discuss plausible mechanisms and evidence from our own and other scientific research for the utilization of curcumin, resveratrol, naringenin, and sulforaphane as neurotherapeutics for ASD.

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8. Bhandari R, Paliwal JK, Kuhad A. Neuropsychopathology of Autism Spectrum Disorder : Complex Interplay of Genetic, Epigenetic, and Environmental Factors. Advances in neurobiology. 2020 ; 24 : 97-141.

Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive development disorders (PDD) which ranges from atypical autism, autism, and Asperger syndrome affecting brain in the developmental stage. This debilitating neurodevelopmental disorder results in both core as well as associated symptoms. Core symptoms observed in autistic patients are lack of social interaction, pervasive, stereotyped, and restricted behavior while the associated symptoms include irritability, anxiety, aggression, and several comorbid disorders.ASD is a polygenic disorder and is multifactorial in origin. Copy number variations (CNVs) of several genes that regulate the synaptogenesis and signaling pathways are one of the major factors responsible for the pathogenesis of autism. The complex integration of various CNVs cause mutations in the genes which code for molecules involved in cell adhesion, voltage-gated ion-channels, scaffolding proteins as well as signaling pathways (PTEN and mTOR pathways). These mutated genes are responsible for affecting synaptic transmission by causing plasticity dysfunction responsible, in turn, for the expression of ASD.Epigenetic modifications affecting DNA transcription and various pre-natal and post-natal exposure to a variety of environmental factors are also precipitating factors for the occurrence of ASD. All of these together cause dysregulation of glutamatergic signaling as well as imbalance in excitatory : inhibitory pathways resulting in glial cell activation and release of inflammatory mediators responsible for the aberrant social behavior which is observed in autistic patients.In this chapter we review and provide insight into the intricate integration of various genetic, epigenetic, and environmental factors which play a major role in the pathogenesis of this disorder and the mechanistic approach behind this integration.

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9. Caffarelli C, Gonnelli S, Pitinca MDT, Camarri S, Al Refaie A, Hayek J, Nuti R. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome. BMC Med Genet. 2020 ; 21(1) : 21.

BACKGROUND : More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the disease severity in affected individuals can be quite variable. Specific MECP2 mutations may lead phenotypic variability and different degrees of disease severity. It is known that low bone mass is a frequent and early complication of subjects with Rett syndrome. As a consequence of the low bone mass Rett girls are at an increased risk of fragility fractures. This study aimed to investigate if specific MECP2 mutations may affects the degree of involvement of the bone status in Rett subjects. METHODS : In 232 women with Rett syndrome (mean age 13.8 +/- 8.3 yrs) we measured bone mineral density at whole body and at femur (BMD-FN and BMD-TH) by using a DXA machine (Hologic QDR 4500). QUS parameters were assessed at phalanxes by Bone Profiler-IGEA (amplitude dependent speed of sound : AD-SoS and bone transmission time : BTT). Moreover, ambulation capacity (independent or assisted), fracture history and presence of scoliosis were assessed. We divided the subjects with the most common point mutations in two group based on genotype-phenotype severity ; in particular, there has been consensus in recognising that the mutations R106T, R168X, R255X, R270X are considered more severe. RESULTS : As aspect, BMD-WB, BMD-FN and BMD-TH were lower in subjects with Rett syndrome that present the most severe mutations with respect to subjects with Rett syndrome with less severe mutations, but the difference was statistically significant only for BMD-FN and BMD-TH (p < 0.05). Also both AD-SoS and BTT values were lower in subjects that present the most severe mutations with respect to less severe mutations but the difference was not statistically significant. Moreover, subjects with Rett syndrome with more severe mutations present a higher prevalence of scoliosis (p < 0.05) and of inability to walk (p < 0.05). CONCLUSION : This study confirms that MECP2 mutation type is a strong predictor of disease severity in subjects with Rett syndrome. In particular, the subjects with more severe mutation present a greater deterioration of bone status, and a higher prevalence of scoliosis and inability to walk.

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10. Chidambaram SB, Bhat A, Mahalakshmi AM, Ray B, Tuladhar S, Sushmitha BS, Saravanan B, Thamilarasan M, Thenmozhi AJ, Essa MM, Guillemin GJ, Qoronfleh MW. Protein Nutrition in Autism. Advances in neurobiology. 2020 ; 24 : 573-86.

Autism is a developmental disorder that affects communication and behavior. Although autism can be diagnosed at any age, it is said to be a "developmental disorder" because symptoms generally appear in the first 2 years of life. The primary cause of autism is still not clear and therapy is currently restricted to controlling behavioral abnormalities. However, emerging studies have shown a link between mitochondrial dysfunction and autism. Dietary supplements that promote mitochondrial biogenesis and inhibit the production of oxidative stress have been used to treat autism patients. Dietary adjustments in treating autism is a novel approach to suppress autistic symptoms. Supplementation with antioxidants has been found to not only inhibit cognitive decline but also improve behavioral symptoms in autism. Dietary supplements fortified with vitamins should only be given under the supervision of a physician. A wide range of nutraceuticals are under clinical trials to understand whether they physiologically target mitochondrial pathways and improve the quality of life in autism.

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11. Chidambaram SB, Tuladhar S, Bhat A, Mahalakshmi AM, Ray B, Essa MM, Bishir M, Bolla SR, Nanjaiah ND, Guillemin GJ, Qoronfleh MW. Autism and Gut-Brain Axis : Role of Probiotics. Advances in neurobiology. 2020 ; 24 : 587-600.

Characterized by a wide range of behavioural, social and language problems, autism is a complex developmental disability that affects an individual’s capacity to communicate and interact with others. Although the real causes that lead to the development of autism are still unclear, the gastrointestinal tract has been found to play a major role in the development of autism. Alterations in macrobiotic compositions have been reported in autistic children. Irregularities in carbohydrate digestion and absorption could also explain some of the gastrointestinal problems reported in autistic patients, although their role in the neurological and behavioural problems remains uncertain. A relationship between improved gut health and decrease of symptoms in autism has been reported as well. Studies done to evaluate the gluten-free diets, casein-free diets, pre- and probiotic and multivitamin supplementation have shown promising results. Probiotics have been thought to alleviate the progression of autism and reduce cognitive and behavioural deficits.

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12. Deb S, Phukan BC, Dutta A, Paul R, Bhattacharya P, Manivasagam T, Thenmozhi AJ, Babu CS, Essa MM, Borah A. Natural Products and Their Therapeutic Effect on Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 601-14.

Autism is a complex neurodevelopmental disorder that is evident in early childhood and can persist throughout the entire life. The disease is basically characterized by hurdles in social interaction where the individuals demonstrate repetitive and stereotyped interests or patterns of behavior. A wide number of neuroanatomical studies with autistic patients revealed alterations in brain development which lead to diverse cellular and anatomical processes including atypical neurogenesis, neuronal migration, maturation, differentiation, and degeneration. Special education programs, speech and language therapy, have been employed for the amelioration of behavioral deficits in autism. Although commonly prescribed antidepressants, antipsychotics, anticonvulsants, and stimulants have revealed satisfactory responses in autistic individuals, adverse side effects and increased risk of several other complications including obesity, dyslipidemia, diabetes mellitus, thyroid disorders, etc. have compelled the researchers to turn their attention toward herbal remedies. Alternative approaches with natural compounds are on continuous clinical trial to confirm their efficacy and to understand their potential in autism treatment. This chapter aims to cover the major plant-based natural products which hold promising outcomes in the field of reliable therapeutic interventions for autism.

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13. ElObeid T, Moawad J, Shi Z. Importance of Nutrition Intervention in Autistic Patients. Advances in neurobiology. 2020 ; 24 : 535-45.

Along with the issues of inflated social and financial burden associated with autism spectrum disorder (ASD), specific treatment for this disorder has also not been developed. Having a thorough look at previous trials done to treat autism, we find that nutrition intervention had been used frequently as a complementary form of therapy. Indeed, an early diagnosis of nutrition deficiency and metabolic disorders done concomitantly with accurate therapeutic interventions can be a cornerstone for improving cognitive and behavioral aptitudes of people with autism. Several studies have showed that increasing the intake of specific nutrients can reduce the symptoms and comorbidities associated with autism. Consequently, nutrition intervention and appropriate supplementation can be crucial in managing and treating autism. This paper will discuss recent literature on the significance of metabolic aspects in autistic disorder and highlight the influence of nutrition intervention on the symptoms of autism.

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14. Fakhro KA. Genomics of Autism. Advances in neurobiology. 2020 ; 24 : 83-96.

Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. These comorbidities may include developmental delay, gastrointestinal problems, cardiac disorders, immune and autoimmune dysregulation, neurological manifestations (e.g., epilepsy, intellectual disability), and other clinical features. This wide phenotypic heterogeneity is difficult to predict and manifests across a wide range of ages and with a high degree of difference in severity, making disease management and prediction of a successful intervention very difficult. Recently, advances in genomics and other molecular technologies have enabled the study of ASD on a molecular level, illuminating genes and pathways whose perturbations help explain the clinical variability among patients, and whose impairments provide possible opportunities for better treatment options. In fact, there are now >1000 genes that have been linked to ASD through genetic studies of more than 10,000 patients and their families. This chapter discusses these discoveries and in the context of recent developments in genomics and bioinformatics, while also examining the trajectory of gene discovery efforts over the past few decades, as both better ascertainment and global attention have been given to this highly vulnerable patient population.

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15. Hartman RE, Patel D. Dietary Approaches to the Management of Autism Spectrum Disorders. Advances in neurobiology. 2020 ; 24 : 547-71.

This chapter reviews the literature surrounding autism spectrum disorders (ASD) and their relation to gastrointestinal (GI), behavioral, neurological, and immunological functioning. Individuals with ASD often have poor GI health, including bowel motility issues, autoimmune and/or other adverse responses to certain foods, and lack of necessary nutrient absorption. These issues may be caused or exacerbated by restrictive behavioral patterns (e.g., preference for sweet and salty foods and/or refusal of healthy foods). Those individuals with GI issues tend to demonstrate more behavioral deficits (e.g., irritability, agitation, hyperactivity) and also tend to have an imbalance in overall gut microbiome composition, thus corroborating several studies that have implicated brain-gut pathways as potential mediators of behavioral dysfunction.We examine the literature regarding dietary approaches to managing ASDs, including elimination diets for gluten, casein, or complex carbohydrates, a ketogenic diet, and a low oxalate diet. We also explore the research examining dietary supplements such as fatty acids, pro- and prebiotics, vitamins, minerals, glutathione, phytochemicals, and hormones. The research on dietary approaches to managing ASDs is limited and the results are mixed. However, a few approaches, such as the gluten-free/casein-free diet, fatty acid supplementation, and pre/probiotics have generally demonstrated improved GI and associated behavioral symptoms. Given that GI issues seem to be overrepresented in ASD populations, and that GI issues have been associated with a number behavioral and neurological deficits, dietary manipulation may offer a cheap and easily implemented approach to improve the lives of those with ASD.

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16. Manivasagam T, Arunadevi S, Essa MM, SaravanaBabu C, Borah A, Thenmozhi AJ, Qoronfleh MW. Role of Oxidative Stress and Antioxidants in Autism. Advances in neurobiology. 2020 ; 24 : 193-206.

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders with poorly understood etiology that are defined exclusively on the basis of behavioral observations. This disorder has been linked to increased levels of oxidative stress and lower antioxidant capacity. Oxidative stress in autism has been studied at the membrane level and also by measuring products of lipid peroxidation, detoxifying agents (such as glutathione), and antioxidants involved in the defense system against reactive oxygen species (ROS). Several studies have suggested alterations in the activities of antioxidant enzymes such as superoxide dismutase, glutathione peroxidase, and catalase in autism. Additionally, altered glutathione levels and homocysteine/methionine metabolism, increased inflammation, excitotoxicity, as well as mitochondrial and immune dysfunction have been suggested in autism. Moreover, environmental and genetic risk factors may intensify vulnerability to oxidative stress in autism. Collectively, these studies suggest increased oxidative stress in autism that may contribute to the development of this disease both in terms of pathogenesis and clinical symptoms. Antioxidant supplementation, or ways to improve the altered metabolite levels in the interconnected transmethylation and transsulfuration pathways, has been associated with decreased autistic behaviors and severity. This chapter provides a conceptual framework on oxidative stress and antioxidants utility. These types of interventions should be further studied in order to determine their effectiveness at improving metabolic imbalances.

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17. Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Benejean O, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Olivie H, Smith WE, Dumas M, Lehman A, Inglese C, Nizon M, Guerrini R, Vetro A, Kaplan ES, Miramar D, Van Gils J, Fergelot P, Bodamer O, Herkert JC, Pajusalu S, Ounap K, Filiano JJ, Smol T, Piton A, Gerard B, Chantot-Bastaraud S, Bienvenu T, Li D, Juusola J, Devriendt K, Bilan F, Poe C, Chevarin M, Jouan T, Tisserant E, Riviere JB, Tran Mau-Them F, Philippe C, Duffourd Y, Dobyns WB, Hevner R, Thauvin-Robinet C. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits : report of 25 new individuals and review of the literature. European journal of human genetics : EJHG. 2020.

TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands.

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18. Poornimai Abirami GP, Radhakrishnan RK, Johnson E, Roshan SA, Yesudhas A, Parveen S, Biswas A, Ravichandran VR, Muthuswamy A, Kandasamy M. The Regulation of Reactive Neuroblastosis, Neuroplasticity, and Nutraceuticals for Effective Management of Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 207-22.

Autism spectrum disorder (ASD) encompasses a cluster of neurodevelopmental and genetic disorders that has been characterized mainly by social withdrawal, repetitive behavior, restricted interests, and deficits in language processing mainly in children. ASD has been known to severely impair behavioral patterns and cognitive functions including learning and memory due to defects in neuroplasticity. The biology of the ASD appears to be highly complex and heterogeneous, and thus, finding a therapeutic target for autism remains obscure. There has been no complete prevention or disease-modifying cure for this disorder. Recently, individuals with autism have been characterized by reactive neurogenesis, obstructions in axonal growth, heterotopia, resulting from dysplasia of neuroblasts in different brain regions. Therefore, it can be assumed that the aforementioned neuropathological correlates seen in the autistic individuals might originate from the defects mainly in the regulation of neuroblasts in the developing as well as adult brain. Nutrient deficiencies during early brain development and intake of certain allergic foods have been proposed as main reasons for the development of ASD. However, the integrated understanding of neurodevelopment and functional aspects of neuroplasticity working through neurogenesis in ASD is highly limited. Moreover, neurogenesis at the level of neuroblasts can be regulated by nutrition. Hence, defects in neuroblastosis underlying the severity of autism potentially could be rectified by appropriate implementation of nutraceuticals.

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19. Shaltout E, Al-Dewik N, Samara M, Morsi H, Khattab A. Psychological Comorbidities in Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 163-91.

Autism spectrum disorder (ASD) is characterized by impairment in behavior, communication, and social interaction. Thus, accurate identification, regular behavioral and other nonmedical interventions would improve the diagnosis, management, and treatment of this condition.In this chapter, we investigate the importance of diagnosing and identifying comorbid psychiatric disorders that occur with ASD as these conditions can often complicate treatment, and failure to recognize them can result in deficits that can persist into adolescence and adulthood. In addition, we explore the impact of comprehensive psychological intervention in ASD patients with comorbid psychiatric disorders with the ultimate goal of improving overall quality of life.

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20. Singh S, Sangam SR, Senthilkumar R. Regulation of Dietary Amino Acids and Voltage-Gated Calcium Channels in Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 647-60.

Autism, or autism spectrum disorders (ASD), is one of the complex genetic diseases and its etiology is unknown for majority of the patients. It is characterized by deterioration in social interaction, communication, interests, imagination, and activities. As autism is a highly heterogeneous disorder, the symptoms can vary greatly in each affected individual. Oxidative stress implicates major pathogenesis of neurological disorders like ASD. Nutrients and dietary supplements play an important role in the health of an individual and there are several lines of evidence suggesting the role of dietary factors in the development or pathogenesis of ASD. The amino acids supplement has been found to reduce symptoms as they act as the precursors of neurotransmitters which in turn may extenuate mental disorders. The biosynthesis of amino acids in the brain is regulated by the concentration of amino acids in plasma. Amino acids are also considerable entities as they themselves, or peptides consisting of them, have profound antioxidant activities. Dietary constituents have an effect on the transport of amino acids across the blood-brain barrier (BBB) thus indirectly modulating the therapeutic value of amino acids. Among the other factors, voltage-gated calcium channels are directly linked to ASD as per results of genetic studies. Malfunctioning of these calcium channels causes ASD. The intricate biochemical and molecular machinery contributing to neurological disorders is still unknown. Here we discuss the preventive role of dietary amino acids against and regulation of voltage-gated calcium channels on ASD.

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21. Sumathi T, Manivasagam T, Thenmozhi AJ. The Role of Gluten in Autism. Advances in neurobiology. 2020 ; 24 : 469-79.

Autism spectrum disorder (ASD) is an inherited neurodevelopmental disorder of social communication and restricted, repetitive behaviors. Much remains unknown about their mechanisms of action and physiological effects. In recent years, there has been a growing interest in nutritional diets, which can be used as a form of therapeutic intervention for ASD with a recent increase in the research being carried out in this field. Selective nutrition therapy for ASD and brain function shows improvement in behavioral changes and reduction in malnutrition seemingly associated with the allergies or food intolerances to gluten. Therefore, a gluten-free diet has yielded positive outcomes giving hope in developing therapy for ASD.

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22. Vartanian C. Overview of Nutritional Therapy for Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 527-34.

The objective of this chapter is to evaluate the latest research pertinent to nutritional management in the treatment of autism spectrum disorder (ASD) and discuss the effectiveness of dietary interventions, nutritional approaches, and supplementation in ASD. To date, the best conventional treatments for autism have been based on a combination of pharmacotherapy, behavioral treatments, and nutritional/dietary therapy, leading many parents and caregivers to opt for specific dietary interventions in the hope of alleviating the symptoms of their children and helping them cope with this disorder. Thus, the role of a registered dietitian and a nutrition specialist is crucial in planning specific nutritional and dietary interventions tailored to individual needs, to make sure the child’s nutritional needs for growth and development are being met. In addition, a careful monitoring of the nutritional status and the positive or negative outcomes pertinent to the planned intervention is a must. Furthermore, numerous studies have also discussed how the maternal diet and specific dietary supplements might affect the behavioral development of children in the first few years of life. A review of the abovementioned nutrition-related key points is discussed in this chapter.

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23. Venkatesan M, Arumugam V, Ayyasamy R, Murugesan S, Saravanan N, Sundaresan U, Ramachandran S, Manivasagam T, Thenmozhi AJ, Qoronfleh MW. Bioactive Metabolites from Marine Ascidians : Future Treatment for Autism Spectrum Disorder. Advances in neurobiology. 2020 ; 24 : 661-78.

Autism spectrum disorder (ASD) is a developmental disorder that influences communication and behavior. Numerous researches propose that genes can act together with manipulations from the environment to affect development in ways that lead to ASD. The broad range of issues facing people with ASD means that there is no single proper drug and treatment for ASD. Numerous shortcomings associated with the present conventional therapeutic strategies have forced researchers to venture into alternative natural sources for effective compounds. The marine environment has emerged as an alternate search environment due to its versatile conditions where organisms employ various biodefense mechanisms for their survival. Ascidians are an excellent source for unique bioactive compounds with nutritive and therapeutic content and it still holds credit for being an underused source from marine animals. Bioactive compounds isolated from ascidians have various commendable biomedical applications due to their unique chemical structures. The present chapter will focus on the potential of bioactive compounds derived from ascidians for the treatment of the neurologic disorder-ASD.

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24. Wylie KP, Tregellas JR, Bear JJ, Legget KT. Autism Spectrum Disorder Symptoms are Associated with Connectivity Between Large-Scale Neural Networks and Brain Regions Involved in Social Processing. J Autism Dev Disord. 2020.

The neurobiology of autism spectrum disorder remains poorly understood. The present study addresses this knowledge gap by examining the relationship between functional brain connectivity and Autism Diagnostic Observation Schedule (ADOS) scores using publicly available data from the Autism Brain Imaging Data Exchange (ABIDE) database (N = 107). This relationship was tested across all brain voxels, without a priori assumptions, using a novel statistical approach. ADOS scores were primarily associated with decreased connectivity to right temporoparietal junction, right anterior insula, and left fusiform gyrus (p < 0.05, corrected). Seven large-scale brain networks influenced these associations. Findings largely encompassed brain regions involved in processing socially relevant information, highlighting the importance of these processes in autism spectrum disorder.

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Annonces

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