scholarly journals Significant Changes in Plasma Alpha-Synuclein and Beta-Synuclein Levels in Male Children with Autism Spectrum Disorder

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Wilaiwan Sriwimol ◽  
Pornprot Limprasert

Alpha-synuclein (α-synuclein) and beta-synuclein (β-synuclein) are presynaptic proteins playing important roles in neuronal plasticity and synaptic vesicle regulation. To evaluate the association of these two proteins and autism spectrum disorder (ASD), we investigated the plasma α-synuclein and β-synuclein levels in 39 male children with ASD (2 subgroups: 25 autism and 14 pervasive developmental disorder-not otherwise specified (PDD-NOS)) comparing with 29 sex- and age-matched controls by using enzyme-linked immunosorbent assay (ELISA). We first determined the levels of these two proteins in the ASD subgroups and found that there were no significant differences in both plasma α-synuclein and β-synuclein levels in the autism and PDD-NOS groups. Thus, we could combine the 2 subgroups into one ASD group. Interestingly, the mean plasma α-synuclein level was significantly lower (P<0.001) in the ASD children (10.82±6.46 ng/mL) than in the controls (29.47±18.62 ng/mL), while the mean plasma β-synuclein level in the ASD children (1344.19±160.26 ng/mL) was significantly higher (P<0.05) than in the controls (1219.16±177.10 ng/mL). This is the first study examining the associations between α-synuclein and β-synuclein and male ASD patients. We found that alterations in the plasma α-synuclein and β-synuclein levels might be implicated in the association between synaptic abnormalities and ASD pathogenesis.

2017 ◽  
Vol 39 (5) ◽  
pp. 430-441 ◽  
Author(s):  
Julia M. Stephen ◽  
Dina E. Hill ◽  
Amanda Peters ◽  
Lucinda Flynn ◽  
Tongsheng Zhang ◽  
...  

The cortical responses to auditory stimuli undergo rapid and dramatic changes during the first 3 years of life in normally developing (ND) children, with decreases in latency and changes in amplitude in the primary peaks. However, most previous studies have focused on children >3 years of age. The analysis of data from the early stages of development is challenging because the temporal pattern of the evoked responses changes with age (e.g., additional peaks emerge with increasing age) and peak latency decreases with age. This study used the topography of the auditory evoked magnetic field (AEF) to identify the auditory components in ND children between 6 and 68 months (n = 48). The latencies of the peaks in the AEF produced by a tone burst (ISI 2 ± 0.2 s) during sleep decreased with age, consistent with previous reports in awake children. The peak latencies of the AEFs in ND children and children with autism spectrum disorder (ASD) were compared. Previous studies indicate that the latencies of the initial components of the auditory evoked potential (AEP) and the AEF are delayed in children with ASD when compared to age-matched ND children >4 years of age. We speculated whether the AEF latencies decrease with age in children diagnosed with ASD as in ND children, but with uniformly longer latencies before the age of about 4 years. Contrary to this hypothesis, the peak latencies did not decrease with age in the ASD group (24-62 months, n = 16) during sleep (unlike in the age-matched controls), although the mean latencies were longer in the ASD group as in previous studies. These results are consistent with previous studies indicating delays in auditory latencies, and they indicate a different maturational pattern in ASD children and ND children. Longitudinal studies are needed to confirm whether the AEF latencies diverge with age, starting at around 3 years, in these 2 groups of children.


Author(s):  
Jose Maria Garcia-Garcia ◽  
Victor M. R. Penichet ◽  
Maria D. Lozano ◽  
Anil Fernando

AbstractAutism spectrum disorder (ASD), which since 2013 is considered as an umbrella term for several disorders such as autistic syndrome, Asperger’s disorder and pervasive developmental disorder, is characterized, among other aspects, by deficits in social-emotion reciprocity. This deficit manifests itself as a reduced sharing of emotions and an increased difficulty in interpreting emotions other people are feeling, which in the end leads to more impairments in social communication. Since it is possible to help a person with ASD (especially children) to improve their ability to understand and detect emotions, we have developed a proposal which integrates emotion recognition technologies, often used in the field of HCI, to try to overcome this difficulty. In this paper, we present a novel software application developed as a serious game to teach children with autism spectrum disorder (ASD) to identify and express emotions. The system incorporates cutting-edge technology to support novel interaction mechanisms based on tangible user interfaces (TUIs) and emotion recognition from facial expressions. In this way, children interact with the system in a natural way by simply grasping objects with their hands and using their faces. The system has been assessed on the premises of an association with children with ASD. The outcomes of the evaluation are very positive and support the validity of the proposal.


2021 ◽  
Vol 12 ◽  
Author(s):  
Mateusz Garbulowski ◽  
Karolina Smolinska ◽  
Klev Diamanti ◽  
Gang Pan ◽  
Khurram Maqbool ◽  
...  

Autism spectrum disorder (ASD) is a heterogeneous neuropsychiatric disorder with a complex genetic background. Analysis of altered molecular processes in ASD patients requires linear and nonlinear methods that provide interpretable solutions. Interpretable machine learning provides legible models that allow explaining biological mechanisms and support analysis of clinical subgroups. In this work, we investigated several case-control studies of gene expression measurements of ASD individuals. We constructed a rule-based learning model from three independent datasets that we further visualized as a nonlinear gene-gene co-predictive network. To find dissimilarities between ASD subtypes, we scrutinized a topological structure of the network and estimated a centrality distance. Our analysis revealed that autism is the most severe subtype of ASD, while pervasive developmental disorder-not otherwise specified and Asperger syndrome are closely related and milder ASD subtypes. Furthermore, we analyzed the most important ASD-related features that were described in terms of gene co-predictors. Among others, we found a strong co-predictive mechanism between EMC4 and TMEM30A, which may suggest a co-regulation between these genes. The present study demonstrates the potential of applying interpretable machine learning in bioinformatics analyses. Although the proposed methodology was designed for transcriptomics data, it can be applied to other omics disciplines.


2021 ◽  
Vol 37 (4) ◽  
Author(s):  
Laila Yousif Al-Ayadhi ◽  
Farah Ali Alghamdi ◽  
Lamees Abdula Altamimi ◽  
Luluh Yousef Alsughayer ◽  
Abdulrahman Mohammad Alhowikan ◽  
...  

Objectives: To investigate the blood plasma levels of Fetuin-A protein in children with Autism Spectrum Disorder (ASD) and healthy controls that could offer novel diagnostic biomarkers of disease development in ASD. Another objective was to investigate the severity of autistic children by Childhood Autism Rating Scale (CARS) and Short Sensory Profile (SSP). Methods: This case control study was carried out at Autism Research and Treatment (ART) Center, King Saud University, Riyadh, Saudi Arabia, from October 2019 to February 2020. Plasma concentration of Fetuin-A was analyzed by enzyme-linked immunosorbent assay (ELISA) in ASD subjects (n=46) and normal controls (n=44). Correlation among Fetuin-A levels, CARS and SSP was established by Spearman’s correlation coefficient (r). Results: Overall, autistic children had significantly (p= 0.0.02) lower Fetuin-A concentration [50.76 (22.2-68.5) ng/ml] than those of healthy controls [53.7 (35.6-99.7) ng/ml] [median (interquartile range)]. Children with mild to moderate autism (n=24, 52%) also showed significantly lower Fetuin-A levels [50.0 (30.0-68.2) ng/ml], (p =0.02} than healthy controls [53.7 (35.6-99.7) ng/ml] [median (IQR)]. However, there was no significant change (p = 0.71) observed between the Fetuin-A levels of children with severe autism [51.8 (22.2-68.5)] ng/ml, mild to moderate autism [50 (30-68.2)] ng/ml [median (IQR)] and healthy controls (p=0.12). Also no significant correlations between Fetuin-A, CARS and SSP were observed (CARS, r= 0.024, p=0.88; SSP, r= -0.003, p=0.98). Conclusion: Overall the low Fetuin-A plasma values in ASD subjects, most likely show that Fetuin-A could be associated in the physiology of autism. Further studies with larger patient and control cohorts will be necessary to determine whether Fetuin-A can be used as a biomarker for ASD. doi: https://doi.org/10.12669/pjms.37.4.4032 How to cite this:Al-Ayadhi LY, Alghamdi FA, Altamimi LA, Alsughayer LY, Alhowikan AM, Halepoto DM. The possible link between Fetuin-A Protein and Neuro-inflammation in Children with Autism Spectrum Disorder. Pak J Med Sci. 2021;37(4):---------.  doi: https://doi.org/10.12669/pjms.37.4.4032 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Author(s):  
S. Casey ◽  
M. Carter ◽  
A. M. Looney ◽  
V. Livingstone ◽  
G. Moloney ◽  
...  

AbstractAutism spectrum disorder (ASD) is a developmental disorder characterised by deficits in social interactions and communication, with stereotypical and repetitive behaviours. Recent evidence suggests that maternal immune dysregulation may predispose offspring to ASD. Independent samples t-tests revealed downregulation of IL-17A concentrations in cases, when compared to controls, at both 15 weeks (p = 0.02), and 20 weeks (p = 0.02), which persisted at 20 weeks following adjustment for confounding variables. This adds to the growing body of evidence that maternal immune regulation may play a role in foetal neurodevelopment.


2021 ◽  
Vol 15 ◽  
Author(s):  
Minshi Huang ◽  
Kevin Liu ◽  
Zhen Wei ◽  
Zhe Feng ◽  
Jierong Chen ◽  
...  

To investigate the levels of serum oxytocin (OT) in children with autism spectrum disorder (ASD) and explore the association between OT levels and gut microbiota relative abundances, we recruited 39 children with ASD children–mother dyads and 44 healthy controls. Serum OT levels were determined via enzyme-linked immunosorbent assay and gut microbiota abundances were determined by 16S rRNA sequencing. We found that the OT level of ASD was lower than the healthy control group overall (P &lt; 0.05). Furthermore, we present preliminary evidence of gut microbiome dysbiosis observed among children with ASD to lower levels of OT based on correlational analysis between serum OT and specific gut microbiota abundances (P &lt; 0.05). We also found sex-related differences in serum OT levels and GIS index (P &lt; 0.05). However, the generalizability of findings relevant to females with ASD require further validation in future studies involving larger sample sizes and balanced sex distributions due to the small number of females involved in this study. Nonetheless, these new findings further our understanding of the effects of low serum OT levels among individuals with ASD, which provides preliminary evidence in hopes of guiding future study design or mechanistic studies. The findings of the present study may be suggestive of potential ASD subtypes based on ASD severity and gut microbiome composition that may facilitate the prediction of the therapeutic responses of OT among those with ASD.


2018 ◽  
Vol 30 (4) ◽  
pp. 226-231 ◽  
Author(s):  
Ayman Alhazmi ◽  
Reneva Petersen ◽  
Kirsten A Donald

AbstractObjectiveTo describe the quality of life (QOL) of South African parents caring for children with autism spectrum disorder (ASD) as compared with parents of typically developing (TD) children from the same community.MethodsA cross-sectional study was done evaluating the QOL of parents of 52 children (26 parents of children with ASD versus 26 parents of TD children) using a structured measure, (World Health Organization Quality of Life Assessment-BREF).ResultsThe mean age of the children with ASD was 64.9 months (SD 14.5) versus 60.1 months (SD 13.5) for TD group. There was a male predominance among group of children with ASD (48 boys, four girls). The mean parental age of the ASD group was 32.9 years (SD 7.8) compared with 33.8 years (SD 6.8) for the TD group. As compared with parents of the TD children, parents of children with ASD had lower mean QOL scores in the four QOL domains: physical, psychological, social and environmental health (p<0.0001). the domain where the discrepancy between groups was greatest was the physical domain Where the mean score was 52.1 (SD 18.7) in the ASD group and 92 (SD 10.4) in the TD group. Lower income, severity level of ASD and lack of access to school placement of children with ASD were found significantly associated with parents’ QOL domains.ConclusionQOL of parents of children with ASD is significant lower than that of the parents of their TD peers across all domains and is an important component in management of the family which needs to be explored and addressed.


2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Muhammad Nurrohman Jauhari

Komunikasi merupakan bagian terpenting dalam hidup manusia, tanpa adanya komunikasi, manusia tidak dapat berinteraksi dengan manusia lainnya. Peran dasar komunikasi adalah jembatan untuk membangun interaksi sosial antara individu satu dengan individu lainnya. Untuk itu, komunikasi berfungsi sebagai medium bagi pembentukan dan pengembangan pribadi individu melalui kontak sosial Anak pervasive developmental disorder atau dapat disebut dengan ASD (Autism Spectrum Disorder) merupakan suatu gangguan atau ketidaknormalan pada seseorang yang ditandai dengan tidak berkembangnya kemampuan sosial dan komunikasi yang di iringi dengan perilaku repetitive dan restrictive (gangguan minat). Pervasive developmental disorder mempunyai empat klasifikasi, yaitu Autis Disorder, Asperger syndrome, Rett Syndrome, dan PDD-NOS (Pervasive Development Disorder-Not Otherwise Specified). Tujuan dalam penelitian ini adalah untuk mengidentiikasi dan mendeskripsikan tahapan komunikasi anak pervasive developmental disorder. Penelitian ini menggunakan pendekatan kualitatif, jenis penelitian kualitatif yang digunakan adalah studi kasus. Berdasarkan hasil observasi dan pengamatan menunjukan bahwa anak pervasive developmental disorder mempunyai perkembangan komunikasi yang berbeda-beda. Dari hasil penelitian dapat disimpulkan bahwa bahwa perkembangan komunikasi anak Autis Disorder, Asperger syndrome, Rett Syndrome, dan PDD-NOS (Pervasive Development Disorder-Not Otherwise Specified) mempunyai perbedaan berdasarkan karakteristik anak. Kata kunci : komunikasi, anak pervasive developmental disorder, identifikasi


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