scholarly journals Glutathione S-Transferase Polymorphisms and Clinical Characteristics in Autism Spectrum Disorders

2021 ◽  
Vol 12 ◽  
Author(s):  
Vanja Mandic-Maravic ◽  
Marija Mitkovic-Voncina ◽  
Marija Pljesa-Ercegovac ◽  
Ana Savic-Radojevic ◽  
Miroslav Djordjevic ◽  
...  

Background: Autism spectrum disorders (ASD) are a heterogeneous group of developmental disorders, with different levels of symptoms, functioning, and comorbidities. Recent findings suggested that oxidative stress and genetic variability in glutathione S-transferases (GSTs) might increase the risk of ASD development. We aimed to determine whether GST polymorphisms influence the severity of symptoms as well as the cognitive and adaptive abilities in children with ASD.Methods: The sample included 113 ASD cases. All participants were genotyped for GSTA1, GSTM1, GSTT1, and GSTP1 polymorphisms. The clinical characteristics were determined with Autism Diagnostic Interview-Revised (ADI-R) in all of the participants. In non-verbal participants, we explored the adaptive functioning using the Vineland Adaptive Behavior Scale II, while in verbal participants, we used the Wechsler Abbreviated Scale of Intelligence (WASI).Results: It was shown that the GSTA1*CC genotype was a predictor of a lower non-verbal communication impairment as well as of a lower chance of having seizures during life. GSTM1-active genotype predicted a higher adaptive functioning. The predictive effect of GSTA1, GSTM1, and GSTT1 genotype was moderated by exposure during pregnancy (maternal smoking and medication). The GSTP1*IleIle genotype was significantly associated to a better cognitive functioning in children with ASD.Conclusion: Besides the complex gene-environment interaction for the specific risk of developing ASD, there is also a possible complexity of interactions between genetic and environmental factors influencing the level of symptoms and impairment in people with ASD. Detoxification and antioxidant enzymes, such as GSTA1, might contribute to the core of this complexity.

Author(s):  
Mª Araceli Sánchez Raya

Abstract.It is undeniable the importance of early detection in all developmental disorders, in children with ASD as well, for an early intervention in children and their families. An early intervention is a very important predictor in their functional recovery. That, put together with the growing incidence and prevalence of this kind of disorders, makes of our study field a matter of an increasing scientific and theoretical interest. In the current paper we deal with earlydetection, evaluation and intervention in children between 0 and 6 years with autism spectrum disorders in andalusian health care system.Resumen.Es innegable la importancia que tiene la detección precoz de cualquier trastorno del desarrollo –y por ende del TEA- para la intervención temprana con los menores y sus familias. Una intervención temprana constituye un importante predictor en la recuperación funcional de estos menores, y esto unido a la creciente incidencia y prevalencia de estos trastornos, hace de nuestro objeto de estudio un tema creciente de gran interés científico y teórico. En la presente comunicación abordamos el circuito de detección, evaluación e intervención temprana en niñas y niños de 0 a 6 años con trastorno del espectro autista en la sanidad andaluza.


2019 ◽  
Vol 8 (10) ◽  
pp. 1508 ◽  
Author(s):  
Kojovic ◽  
Ben Hadid ◽  
Franchini ◽  
Schaer

Sensory processing issues have been frequently reported in individuals with Autism Spectrum Disorders (ASD), but their relationship with social and overall adaptive functioning has not been extensively characterized to date. Here, we investigate how sensory processing atypicalities relate with deficits in social skills, impaired social cognition, and general adaptive functioning in a group of preschoolers with ASD. Sixty-four children with ASD aged 3 to 6 were included in this study, along with 36 age-matched typically-developing (TD) peers. Parent-reported measures of sensory processing, social difficulties and overall adaptive functioning were collected for all children. We also obtained precise measures of social attention deployment using a custom-design eye-tracking task depicting naturalistic social scenes. Within the group of children with ASD, higher intensities of sensory issues were associated with more prominent social difficulties and lower adaptive functioning. We also found that children with ASD who had more sensory issues showed visual exploration patterns of social scenes that strongly deviated from the one seen in the TD group. The association of sensory processing atypicalities with “higher-order” functional domains such as social and adaptive functioning in children with ASD stresses the importance of further research on sensory symptoms in autism.


Author(s):  
Yashomathi

Autism spectrum disorders (ASDs) are complex neuro-developmental disorders. They demonstrate pervasive deficits in social communication, restricted and repetitive behaviors, cognitive impairments, etc. Most often individuals with ASDs are often considered “non-verbal” and they require comprehensive intervention to improve their functional communication skills. Augmentative and alternative communication (AAC) was always viewed as a “last resort” for people with complex communication needs when all other interventions failed to achieve the potential benefit. However, with growing evidence, AAC has been implemented even in children with communication difficulties to augment spoken language development. Thus, this chapter aims to discuss the characteristics of ASD, to describe the need for AAC intervention in children with ASD, challenges and practices of AAC in ASD, to review implementation of aided AAC systems for children with ASD in different contexts, to indicate the gaps and future prospective in AAC intervention for people with ASDs.


2010 ◽  
Vol 20 (2) ◽  
pp. 42-50 ◽  
Author(s):  
Laura W. Plexico ◽  
Julie E. Cleary ◽  
Ashlynn McAlpine ◽  
Allison M. Plumb

This descriptive study evaluates the speech disfluencies of 8 verbal children between 3 and 5 years of age with autism spectrum disorders (ASD). Speech samples were collected for each child during standardized interactions. Percentage and types of disfluencies observed during speech samples are discussed. Although they did not have a clinical diagnosis of stuttering, all of the young children with ASD in this study produced disfluencies. In addition to stuttering-like disfluencies and other typical disfluencies, the children with ASD also produced atypical disfluencies, which usually are not observed in children with typically developing speech or developmental stuttering. (Yairi & Ambrose, 2005).


Author(s):  
Dominique H. Como ◽  
Leah I. Stein Duker ◽  
José C. Polido ◽  
Sharon A. Cermak

Children with autism spectrum disorders (ASD) are at risk for oral health disparities. With the dramatic rise in ASD prevalence to 1 in 54 children, it is likely that an increasing number of dental practitioners will encounter or be asked to treat children with ASD. This paper reviews explanations related to the increasing prevalence of ASD, provides reasons why children with ASD are at increased risk for poor oral health, and discusses unique interprofessional collaborations between dental practitioners and occupational therapists. Occupational therapists and dentists can work together to plan modifications to the dental environment or adapt dental protocols to reduce some of the barriers encountered by those with ASD, provide desensitization strategies before the clinic visit, or help a child with emotional regulation during clinical treatments.


2011 ◽  
Vol 19 (01) ◽  
pp. 113-125 ◽  
Author(s):  
LEJUN GONG ◽  
XIAO SUN ◽  
DONGKE JIANG ◽  
SHENGTAO GONG

Autism spectrum disorders (ASD) represent a group of developmental disorders with strong genetic underpinnings. To explore the genetic complexity of ASD, we developed AutMiner (), a public web-portal for the collection of genes linked to ASD, and the implementation of an autism-centre network. AutMiner extracts candidate genes associated with ASD using text mining from 9276 abstracts. Compared to other recent systems, gene entries are richer to provide a reference for clinical geneticists. AutMiner also constructs ASD-related network consisting of autism-gene network and gene-gene network. To the best of our knowledge, this is the first web example of ASD-related network. The major focus of AutMiner is to offer a valuable reference tool for clinical geneticists in establishing and implementing effective genetic screening programmes for those patients with ASD.


2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Mohammad Ali Ghaffari ◽  
Elham Mousavinejad ◽  
Forough Riahi ◽  
Masoumeh Mousavinejad ◽  
Mohammad Reza Afsharmanesh

Background. Autism spectrum disorders (ASDs) are complex disorders where the pathogenesis is not fully understood. Several proinflammatory and immunoinflammatory disturbances have been observed in the etiology of ASD. There is, however, limited knowledge on variations of adipokines in ASD. The present study aimed to analyze the serum levels of resistin, visfatin, and tumor necrosis factor-alpha (TNF-α) in children with ASD in relation to body weight, gender, and ASD severity level. Method. In total, 30 children with ASD (mean age: 7.72±2.65 y; range; 4–12 y) and 30 healthy children (mean age: 8.4±2.66 y; range: 4–12 y), including males and females, were matched for age, gender, and body mass index (BMI). Serum samples were collected, and visfatin, resistin, and TNF-α serum levels were measured using an enzyme-linked immunosorbent assay (ELISA) kit. Result. Serum visfatin, resistin, and TNF-α levels in children with ASD were significantly higher than that in the healthy patients (p<0.05). Two significant correlations were found: a correlation between resistin and visfatin with TNF-α in children with ASD (R = 0.8 and R = 0.62, resp.) and a correlation between resistin and visfatin in children with ASD (R = 0.66). Conclusion. Higher TNF-α, resistin, and visfatin levels were found in children with ASD in comparison with controls, suggesting that elevated levels of serum proinflammatory agents may be implicated in the pathophysiology of ASD.


2018 ◽  
Vol 43 (7) ◽  
pp. 800-813 ◽  
Author(s):  
Martina Franchini ◽  
Daniela Zöller ◽  
Edouard Gentaz ◽  
Bronwyn Glaser ◽  
Hilary Wood de Wilde ◽  
...  

2017 ◽  
Vol 41 (S1) ◽  
pp. S214-S214 ◽  
Author(s):  
L. Kobylinska ◽  
C.G. Anghel ◽  
I. Mihailescu ◽  
F. Rad ◽  
I. Dobrescu

Children with autism spectrum disorders (ASD) have a less definitive hand preference for certain actions as opposed to neurotypical children. Moreover, left-handedness in children with ASD has been associated with more echolalia. The objective was to conduct a screening of potential risk and associated features for autism spectrum disorders, among which the hand preference of the child. The current aim is to compare the perceived handedness of children with autism spectrum disorders with that of children with other psychiatric pathologies.MethodsEight hundred and forty-two parents completed our risk and associated features screening questionnaire. Out of these, 494 answered the question regarding handedness (209 had children diagnosed with ASD). This asked the parents to state how they perceived their child's handedness. An ADOS assessment has been conducted for 170 of the children whose parents were included in the study, based on clinical relevance for the case. The data were analysed using Excel and SPSS 22.0. For the comparisons, Chi2 and the Kruskal–Wallis test were used.ResultsChildren with ASD had more left-handedness (χ2(2) = 12.54, P = 0.002). There were no differences between boys and girls in terms of perceived handedness in any of the groups. There were no differences in the ADOS scores according to the perceived hand laterality (χ2(2) = 0.58, P = 0.74).ConclusionRightward-asymmetry in regions of corpus callosum has been reported to correlate with symptoms severity in ASD. The finding of different perceived handedness in children with ASD versus children with other psychiatric pathologies is useful for designing appropriate, individualized training programs for motor therapy.Disclosure of interestThe authors have not supplied their declaration of competing interest.


Author(s):  
Sarah N. Douglas ◽  
Yan Shi ◽  
Saptarshi Das ◽  
Subir Biswas

Children with autism spectrum disorders (ASD) struggle to develop appropriate social skills, which can lead to later social rejection, isolation, and mental health concerns. Educators play an important role in supporting and monitoring social skill development for children with ASD, but the tools used by educators are often tedious, lack suitable sensitivity, provide limited information to plan interventions, and are time-consuming. Therefore, we conducted a study to evaluate the use of a sensor system to measure social proximity between three children with ASD and their peers in an inclusive preschool setting. We compared video-coded data with sensor data using point-by-point agreement to measure the accuracy of the sensor system. Results suggest that the sensor system can adequately measure social proximity between children with ASD and their peers. The next steps for sensor system validation are discussed along with clinical and educational implications, limitations, and future research directions.


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