Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure

2017 ◽  
Vol 27 (2) ◽  
pp. 54-61 ◽  
Author(s):  
Inês C. Conceição ◽  
Maria M. Rama ◽  
Bárbara Oliveira ◽  
Cátia Café ◽  
Joana Almeida ◽  
...  
Author(s):  
Nicola Alessio ◽  
Anna Lisa Brigida ◽  
Gianfranco Peluso ◽  
Nicola Antonucci ◽  
Umberto Galderisi ◽  
...  

Neurodevelopmental lifelong pathologies defined by problems with social interaction, communication capacity and presence of repetitive/stereotyped clusters of behavior and interests are grouped under the definition of autism spectrum disorder (ASD). ASD prevalence is still increasing, indicating the need to identify specific biomarkers and novel pharmacotherapies. Neuroinflammation and neuro-immune cross-talk dysregulation are specific hallmarks of ASD, offering the possibility of treating these disorders by stem cell therapy. Indeed, cellular strategies have been postulated, proposed and applied to ASD. However, less is known about the molecular action mechanisms of stem cells. As a possibility, the positive and restorative effects mediated by stem cells could be due to their paracrine activity, by which stem cells produce and release several ameliorative and anti-inflammatory molecules. Among the secreted complex tools, exosomes are sub-organelles, enriched by RNA and proteins, that provide cell-to-cell communication. Exosomes could be the mediators of many stem cell-associated therapeutic activities. This review article describes the potential role of exosomes in alleviating ASD symptoms.


Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 688
Author(s):  
Abdulkadir Yusif Maigoro ◽  
Soojin Lee

The link between autism spectrum disorder (ASD) and the gut microbiome has received much attention, with special focus on gut–brain-axis immunological imbalances. Gastrointestinal problems are one of the major symptoms of ASD and are thought to be related to immune dysregulation. Therefore, in silico analysis was performed on mined data from 36 individuals with ASD and 21 control subjects, with an emphasis on lipid A endotoxin-producing bacteria and their lipopolysaccharide (LPS) metabolic pathways. Analysis of enzyme distribution among the 15 most abundant genera in both groups revealed that almost all these genera utilized five early-stage enzymes responsible for catalyzing the nine conserved lipid A synthesis steps. However, Haemophilus and Escherichia, which were significantly more abundant in individuals with ASD than in the control subjects, possess a complete set of essential lipid A synthesis enzymes. Furthermore, the 10 genera with the greatest increase in individuals with ASD showed high potential for producing late-stage lipid A products. Collectively, these results suggested that the synthesis rate of immunogenic LPS end products is likely to increase in individuals with ASD, which may be related to their gastrointestinal symptoms and elevated inflammatory conditions.


2020 ◽  
Vol 70 (10) ◽  
pp. 1649-1667 ◽  
Author(s):  
Hajar Owji ◽  
Mahboobeh Eslami ◽  
Navid Nezafat ◽  
Younes Ghasemi

2010 ◽  
Vol 31 (8) ◽  
pp. 684 ◽  
Author(s):  
Rosane Lowenthal ◽  
Marcos Tomanik Mercadante ◽  
José Ferreira Belisário Filho ◽  
Rui Fernando Pilotto ◽  
Cristiane Silvestre de Paula

2016 ◽  
Vol 33 (S1) ◽  
pp. S356-S356
Author(s):  
I. Peixoto ◽  
R. Velasco Rodrigues ◽  
C. Marques

IntroductionDespite categorical differentiation, autistic and psychotic disorders are historically related diagnostic entities and there is still much controversy regarding their limits and developmental course. Particularly in children, the presence of idiosyncratic fears, difficulties in the social sphere and thought disorder are important factors in the differential diagnosis. There are some research-derived clinical constructs that operationalize symptomatology aiming to highlight the interfaces and the overlap between such disorders. Their clinical implications can be extremely relevant in the face of the limits of current nosology.ObjetivesTo phenomenologically describe differentiating parameters and high-risk clinical profiles for the development of psychosis in children with autism spectrum disorder.MethodsSelective review of the literature in PubMed (MEDLINE). Illustration with a clinical case vignette.ResultsThe clinical case reflects well the difficulties posed in the differential diagnosis due to the multiple interfaces between autism and psychosis. Constructs such as “multiple complex developmental disorder” or “multidimensionally impaired syndrome” allow a clearer and more practice-friendly characterization of such individuals.ConclusionThe constelation of symptoms identified in these criteria may become useful through the definition of subgroups of autism spectrum disorder individuals with complex psychopathology. Studies in this regard are still scarce, but the validation and reproduction of the positive results observed in the near future can help optimize the clinical approaches in these children.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2020 ◽  
Vol 17 (03) ◽  
pp. 485-498
Author(s):  
Abhinob Baruah ◽  
Kajal Singla ◽  
Shilpa S Chapadgaonkar ◽  
Rashmi Rameshwari

Author(s):  
Ruxandra Folostina ◽  
Alexandra Andreea Dragomir

The new approaches for disability are characterized through respect towards the beneficiary. In practice, this means empowering the person with a disability or an association that fights for the rights to make choices about their personal life. Empowering a person with disabilities, trusting their potential, and encouraging them to look with optimism towards the future are just a few of the aspects of change. Involving the person in making decisions for themselves and promoting those changes that have an impact on the quality of life also has a pragmatic side in the sense that it requires considerable expenses. Several debates for child's rights and people's with disabilities rights proposed the definition of “rights for a future” (Crețu, 2006). The freedom of choice does not only represent a topic from the individualized intervention plan, but additionally refers to taking responsibility, taking ownership for what the person with a disability agreed with.


2022 ◽  
Vol 40 ◽  
Author(s):  
Annio Posar ◽  
Paola Visconti

ABSTRACT Objective: To review clinical and neurobiological features of minimally verbal children with autism spectrum disorder. Data source: We carried out a narrative review using the PubMed database. We considered the following search terms combined through the Boolean operator “AND”: “autism spectrum disorder”; “minimally verbal.” Data synthesis: To date, there is no shared definition of minimally verbal children with autism spectrum disorder. The heterogeneity in intellectual functioning and in linguistic abilities among these individuals suggests there is no single mechanism underlying their difficulties in learning to speak. However, the reasons why these children do not speak and the biological markers that can identify them are still unknown. Language impairment in these children can lead to several unfavorable consequences, including behavior problems (such as self-aggression, hetero-aggression, and property destruction), poorer daily living and social skills. Psychiatric comorbidities (including attention deficit/hyperactivity disorder, specific phobias, and compulsions) consist in a serious problem related to the lack of verbal language in individuals with autism spectrum disorder. Although in the literature there are very few evidence-based results, several findings suggest that an alternative and augmentative communication intervention, creating an extra-verbal communication channel, may be effective in these individuals. Conclusions: The exact definition, clinical characteristics, associated disorders, etiology, and treatment of minimally verbal subjects with autism spectrum disorder must still be further studied and understood.


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