scholarly journals Distinct roles of GRIN2A and GRIN2B variants in neurological conditions

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1940 ◽  
Author(s):  
Scott J Myers ◽  
Hongjie Yuan ◽  
Jing-Qiong Kang ◽  
Francis Chee Kuan Tan ◽  
Stephen F Traynelis ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Autism Spectrum ◽  
Clinical Phenotypes ◽  
Hyperactivity Disorder ◽  
Functional Consequences ◽  
Spectrum Disorders ◽  
Circuit Function ◽  
Available Information ◽  
Insight Into

Rapid advances in sequencing technology have led to an explosive increase in the number of genetic variants identified in patients with neurological disease and have also enabled the assembly of a robust database of variants in healthy individuals. A surprising number of variants in the GRIN genes that encode N-methyl-D-aspartate (NMDA) glutamatergic receptor subunits have been found in patients with various neuropsychiatric disorders, including autism spectrum disorders, epilepsy, intellectual disability, attention-deficit/hyperactivity disorder, and schizophrenia. This review compares and contrasts the available information describing the clinical and functional consequences of genetic variations in GRIN2A and GRIN2B. Comparison of clinical phenotypes shows that GRIN2A variants are commonly associated with an epileptic phenotype but that GRIN2B variants are commonly found in patients with neurodevelopmental disorders. These observations emphasize the distinct roles that the gene products serve in circuit function and suggest that functional analysis of GRIN2A and GRIN2B variation may provide insight into the molecular mechanisms, which will allow more accurate subclassification of clinical phenotypes. Furthermore, characterization of the pharmacological properties of variant receptors could provide the first opportunity for translational therapeutic strategies for these GRIN-related neurological and psychiatric disorders.

Agency and Presence: A Common Dependence on Subjectivity?

2006 ◽  
Vol 15 (5) ◽  
pp. 539-552 ◽  
Author(s):  
Gerardo Herrera ◽  
Rita Jordan ◽  
Lucí Vera
Keyword(s):  
Autism Spectrum Disorders ◽  
Mental Models ◽  
Virtual Environments ◽  
Empirical Evidence ◽  
Autism Spectrum ◽  
Sense Of Presence ◽  
Spectrum Disorders ◽  
Positive Results ◽  
Insight Into

This paper argues that presence, as shown in virtual environments, can usefully be seen as comprising various subtypes and that these in turn may have common conceptual and ontological features with a sense of agency as defined by Russell (1996, Agency: Its Role in Mental Development, Erlbaum.). Furthermore, an analysis of Russell's characterization of the concept of agency may be useful for acquiring insight into the sense of presence itself and the variables affecting it. Empirical evidence from cognitive developmental research and the positive results of attempts to develop symbolic understanding in people with autism spectrum disorders (ASD) in virtual environments suggest that presence may be more about experiencing agency than either pretending to be there or constructing and reconstructing mental models in real time. This analysis is used to shed some light on the current issues of presence research and to open up new philosophical and psychological aspects, in relation to both presence and ASD.

Disorder-specific alterations of tactile sensitivity in neurodevelopmental disorders

2020 ◽  
Author(s):  
Jason He ◽  
Ericka Wodka ◽  
Mark Tommerdahl ◽  
Richard Edden ◽  
Mark Mikkelsen ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Autism Spectrum ◽  
Typically Developing ◽  
Hyperactivity Disorder ◽  
The Core ◽  
Children With Asd ◽  
Tactile Detection ◽  
Spectrum Disorders ◽  
Sensory Processes ◽  
Core Symptoms

Alterations of tactile processing have long been identified in autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, the extent to which these alterations are disorder-specific, rather than disorder-general, and how they relate to the core symptoms of each disorder, remains unclear. We measured and compared tactile detection, discrimination and order judgment thresholds between a large sample of children with ASD, ADHD, ASD + ADHD combined and typically developing controls. The pattern of results suggested that while difficulties with tactile detection and order judgement were more common in children with ADHD, difficulties with tactile discrimination were more common in children with ASD. Strikingly, subsequent correlation analyses found that the disorder-specific alterations suggested by the group comparisons were also exclusively related to the core symptoms of each respective disorder. These results suggest that disorder-specific alterations of lower-level sensory processes exist and are specifically related to higher-level clinical symptoms of each disorder.

scholarly journals Genetics and Epigenetics of One-Carbon Metabolism Pathway in Autism Spectrum Disorder: A Sex-Specific Brain Epigenome?

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 782
Author(s):  
Veronica Tisato ◽  
Juliana A. Silva ◽  
Giovanna Longo ◽  
Ines Gallo ◽  
Ajay V. Singh ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Molecular Mechanisms ◽  
Autism Spectrum ◽  
Mthfr Gene ◽  
Spectrum Disorder ◽  
Fetal Life ◽  
Clinical Phenotypes ◽  
One Carbon Metabolism ◽  
Causes And Risk Factors ◽  
Individual Disease

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting behavior and communication, presenting with extremely different clinical phenotypes and features. ASD etiology is composite and multifaceted with several causes and risk factors responsible for different individual disease pathophysiological processes and clinical phenotypes. From a genetic and epigenetic side, several candidate genes have been reported as potentially linked to ASD, which can be detected in about 10–25% of patients. Folate gene polymorphisms have been previously associated with other psychiatric and neurodegenerative diseases, mainly focused on gene variants in the DHFR gene (5q14.1; rs70991108, 19bp ins/del), MTHFR gene (1p36.22; rs1801133, C677T and rs1801131, A1298C), and CBS gene (21q22.3; rs876657421, 844ins68). Of note, their roles have been scarcely investigated from a sex/gender viewpoint, though ASD is characterized by a strong sex gap in onset-risk and progression. The aim of the present review is to point out the molecular mechanisms related to intracellular folate recycling affecting in turn remethylation and transsulfuration pathways having potential effects on ASD. Brain epigenome during fetal life necessarily reflects the sex-dependent different imprint of the genome-environment interactions which effects are difficult to decrypt. We here will focus on the DHFR, MTHFR and CBS gene-triad by dissecting their roles in a sex-oriented view, primarily to bring new perspectives in ASD epigenetics.

scholarly journals Attention deficit/hyperactivity disorder symptoms moderate cognition and behavior in children with autism spectrum disorders

2009 ◽  
pp. n/a-n/a ◽  
Author(s):  
Benjamin E. Yerys ◽  
Gregory L. Wallace ◽  
Jennifer L. Sokoloff ◽  
Devon A. Shook ◽  
Joette D. James ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Autism Spectrum Disorders ◽  
Attention Deficit ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Hyperactivity Disorder ◽  
Spectrum Disorders ◽  
And Behavior

scholarly journals Association of Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorders with Mean Platelet Volume and Vitamin D

2017 ◽  
Vol 23 ◽  
pp. 1378-1384 ◽  
Author(s):  
Mesut Garipardic ◽  
Murat Doğan ◽  
Keziban Asli Bala ◽  
Tuba Mutluer ◽  
Sultan Kaba ◽  
...  
Keyword(s):  
Vitamin D ◽  
Attention Deficit Hyperactivity Disorder ◽  
Autism Spectrum Disorders ◽  
Attention Deficit ◽  
Mean Platelet Volume ◽  
Autism Spectrum ◽  
Platelet Volume ◽  
Hyperactivity Disorder ◽  
Spectrum Disorders

scholarly journals Socioemotional profiles of autism spectrum disorders, attention deficit hyperactivity disorder, and disinhibited and reactive attachment disorders: a symptom comparison and network approach

2021 ◽  
pp. 1-10
Author(s):  
Barry Coughlan ◽  
Matt Woolgar ◽  
Marinus H. van IJzendoorn ◽  
Robbie Duschinsky
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Autism Spectrum Disorders ◽  
Attention Deficit ◽  
Autism Spectrum ◽  
Attachment Disorders ◽  
Hyperactivity Disorder ◽  
Children With Asd ◽  
Significant Difference ◽  
Reactive Attachment ◽  
Spectrum Disorders

Abstract Children with autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD) and disinhibited and reactive attachment disorders (RAD/DAD) often experience socioemotional problems. Elucidating a clear picture of these profiles is essential. Strengths and Difficulties Questionnaires (SDQs) were analysed from cohort of children with ASD (n = 1430), ADHD (n = 1193), and RAD/DAD (n = 39). Kruskal–Wallis Tests and network analytic techniques were used to investigate symptom profiles. Children with ASD experienced more emotional problems, peer problems and fewer prosocial behaviours. Children with ADHD and RAD/DAD had higher levels of hyperactivity and conduct problems. Overall, ASD and ADHD networks were highly correlated (rs = 0.82), and we did not observe a statistically significant difference in terms of global Strength.

scholarly journals Beyond Alkaloids: Novel Bioactive Natural Products From Lobelia Species

2021 ◽  
Vol 12 ◽  
Author(s):  
Qinfang Zheng ◽  
Ye Wang ◽  
Shuihan Zhang
Keyword(s):  
Molecular Mechanisms ◽  
The Novel ◽  
Bioactive Components ◽  
Research Focus ◽  
Bioactive Natural Products ◽  
Hyperactivity Disorder ◽  
Multicenter Phase ◽  
Major Shift ◽  
Significant Attention

In this work, we reviewed the progress in the phytochemical and biological investigations of bioactive components derived from medicinally valuable Lobelia species. In the last 60 years, Lobelia has garnered significant attention from the phytochemist from around the world, majorly due to the discovery of bioactive piperidine alkaloids (e.g., lobinaline and lobeline) in the early 1950s. Later, lobeline underwent clinical trials for several indications including the treatment of attention deficit hyperactivity disorder and a multicenter phase three trial for smoking cessation. Subsequently, several other alkaloids derived from different species of Lobelia were also investigated for their pharmacological characteristics. However, in the last few years, the research focus has started shifting to the characterization of the other novel chemical classes. The major shift has been noticed due to the structurally similar alkaloid components, which essentially share similar pharmacological, physicochemical, and toxicological profiles. In this review, we present an up-to-date overview of their progress with special attention to understanding the molecular mechanisms of the novel bioactive components.

scholarly journals Human Plasma Glycome in Attention-Deficit Hyperactivity Disorder and Autism Spectrum Disorders

2010 ◽  
Vol 10 (1) ◽  
pp. M110.004200 ◽  
Author(s):  
Nela Pivac ◽  
Ana Knežević ◽  
Olga Gornik ◽  
Maja Pučić ◽  
Wilmar Igl ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Autism Spectrum Disorders ◽  
Human Plasma ◽  
Attention Deficit ◽  
Autism Spectrum ◽  
Hyperactivity Disorder ◽  
Spectrum Disorders

Gluten Intolerance and Neurodevelopmental Disorders: Is Nitric Oxide the Common Biomarker Linking These Conditions?

2016 ◽  
Vol 69 (1) ◽  
pp. 54-55 ◽  
Author(s):  
Keith Fluegge
Keyword(s):  
Oxidative Stress ◽  
Nitric Oxide ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Air Pollutant ◽  
Clinical Feature ◽  
Nutrient Deficiencies ◽  
Hyperactivity Disorder ◽  
Spectrum Disorders ◽  
The Relationship

Cruchet et al. attempt to tease out the myths and facts surrounding the growing popularity of certain dietary approaches in the management of neurodevelopmental disorders, like attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs). The authors identify a particular exclusionary-type approach that seeks to eliminate dietary gluten. Although the relationship between celiac disease (CD) and ADHD/ASD is not well established, a repeated clinical feature noted in CD is the elevated levels of nitric oxide in serum and urine. Elevated oxidative stress has also been observed in neurodevelopmental conditions, and the author of this correspondence has been the first to propose that chronic, environmental exposure to the air pollutant, nitrous oxide may contribute to these oxidative stress profiles through neural cholinergic perturbation. Therefore, the purpose of this correspondence is to highlight this biochemical connection between these conditions so as to identify the clinical populations who may realize the greatest benefit of these dietary approaches, while minimizing any potential risk of nutrient deficiencies.

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