scholarly journals Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Amany H. Abdelrahman ◽  
Ola M. Eid ◽  
Mona H. Ibrahim ◽  
Safa N. Abd El-Fattah ◽  
Maha M. Eid ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Gene Family ◽  
Complex Disease ◽  
Expression Patterns ◽  
Normal Volunteer ◽  
Disease Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Expression Levels ◽  
Significant Difference

Abstract Background Autism spectrum disorder is a condition related to brain development that affects a person’s perception and socialization, resulting in problems in social interaction and communication. It has no single known cause, yet several different genes appear to be involved in autism. As a genetically complex disease, dysregulation of miRNA expression and miRNA–mRNA interactions might be a feature of autism spectrum disorder. The aim of the current study was to investigate the expression profile of circulating miRNA-128, miRNA-7 and SHANK gene family in ASD patients and to assess the possible influence of miRNA-128 and miRNA-7 on SHANK genes, which might provide an insight into the pathogenic mechanisms of ASD and introduce noninvasive molecular biomarkers for the disease diagnosis and prognosis. Quantitative real-time PCR technique was employed to determine expression levels of miRNA-128, miRNA-7 and SHANK gene family in blood samples of 40 autistic cases along with 30 age- and sex-matched normal volunteer subjects. Results Our study revealed a statistical significant upregulation of miRNA-128 expression levels in ASD cases compared to controls (p value < 0.001). A statistical significant difference in SHANK-3 expression was encountered on comparing cases to controls (p value < 0.001). However, miRNA-7 expression showed no significant difference between the studied groups. Conclusions MiRNA-128 and SHANK-3 gene are emerging players in the field of ASD. They are promising candidates as noninvasive biomarkers in autism. Future studies are needed to emphasize their pivotal role.

scholarly journals Possible tics diagnosed as stereotypies in patients with severe autism spectrum disorder: a video-based evaluation

2020 ◽  
Author(s):  
Cristiano Termine ◽  
Enzo Grossi ◽  
Valentina Anelli ◽  
Ledina Derhemi ◽  
Andrea E. Cavanna
Keyword(s):  
Autism Spectrum Disorder ◽  
Rating Scale ◽  
Young Patients ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
High Rate ◽  
Video Recordings ◽  
Significant Difference ◽  
Severe Autism

Abstract Background The association of stereotypies and tics is not rare in children with severe autism spectrum disorder (ASD). The differential diagnosis between stereotypies and tics in this patient population can be difficult; however, it could be clinically relevant because of treatment implications. Methods A total of 108 video recordings of repetitive behaviors in young patients with stereotypies in the context of ASD were reviewed by a movement disorders expert and a trainee, in order to assess the prevalence of possible co-morbid tics. The Modified Rush Videotape Rating Scale (MRVS) was used to rate tic frequency and severity. Results Out of 27 patients with stereotypies (24 males; mean age 14 years), 18 (67%) reported possible tics. The most frequently observed tics were eye blinking, shoulder shrugging, neck bending, staring, and throat clearing. The mean MRVS score was 5, indicating mild tic severity. The only significant difference between patients with tics and patients without tics was the total number of stereotypies, which was higher in the subgroup of patients without tics (p = 0.01). Conclusions Expert review of video-recordings of repetitive behaviors in young patients with ASD and stereotypies suggests the possibility of a relatively high rate of co-morbid tics. These findings need to be integrated with a comprehensive clinical assessment focusing on the diagnostic re-evaluation of heterogeneous motor manifestations.

scholarly journals Associations between autism spectrum disorder and eating disorders with and without self-induced vomiting: an empirical study

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Noriko Numata ◽  
Akiko Nakagawa ◽  
Kazuko Yoshioka ◽  
Kayoko Isomura ◽  
Daisuke Matsuzawa ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Eating Disorders ◽  
Eating Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
University Hospital ◽  
Autism Spectrum Quotient ◽  
Essential Difference ◽  
Illness Duration ◽  
Significant Difference

Abstract Background Although approximately 23% of anorexia nervosa (AN) patients have concomitant autism spectrum disorder (ASD), it is clinically difficult to determine ASD coexistence in patients with eating disorders. Restrictive AN is more common in younger patients and self-induced vomiting usually appears during adolescence/young adulthood, in order to prevent gaining weight caused by overeating. However, some patients are tolerant of weight gain even if they start overeating. It is important to understand the essential difference between those who vomit and those who do not vomit. In this study, we hypothesised that the absence of self-induced vomiting may be associated with the presence of ASD and aimed to assess the presence of ASD traits in each eating disorder (EDs). Clarifying this association helps to consider the coexistence of ASD in the clinical setting and can lead to the next detailed ASD evaluation, and as a result, helps to determine the appropriate treatment and support individually. Methods We retrospectively evaluated 43 females aged 15–45 years who attended Chiba University Hospital between 2012 and 2016 using the Eating Disorder Examination Questionnaire (EDE-Q) and Autism-Spectrum Quotient (AQ) to quantify the severity of the EDs and to identify whether ASD traits were present. Results There was no difference in the AQ score between bingeing-purging type AN and restricting type AN. However, there was significant difference in the AQ score between bulimia nervosa and binge EDs (BED). Of the 4 ED subtypes, BED had the highest ASD traits. The non-vomiting group with illness duration < 4 years had a significantly higher AQ communication score than the vomiting group with illness duration ≥4 years. Conclusions There was a difference in the AQ score by the presence or absence of self-induced vomiting. The results of this study suggest an association between high scores on AQ and non-vomiting. Thus, evaluation of patients for the absence of self-induced vomiting while assessing them for EDs may help us to understand the association with ASD traits.

scholarly journals The frequency, variation, and semantic integration of co-speech gesture production in verbal adolescents diagnosed with Autism Spectrum Disorder

2020 ◽  
Author(s):  
Renáta Longauerová
Keyword(s):  
Autism Spectrum Disorder ◽  
Verbal Working Memory ◽  
Autism Spectrum ◽  
Semantic Integration ◽  
Spectrum Disorder ◽  
Frequency Variation ◽  
Animated Cartoon ◽  
Significant Difference ◽  
Gesture Production ◽  
Adolescents With Asd

Gestures play an important role in communication, but for populations with atypical language development, gestures are often an area of significant difficulty, especially for individuals with Autism Spectrum Disorder (ASD). Research on younger children with ASD show a significant delay in gesture production, as well as a complete absence of certain types of gestures. However, previous work leaves open the question of whether the frequency and variation of gesture production is impaired also in adolescents with ASD. Moreover, very little is known about the semantic integration of speech and gesture in this population. In the present study, 5 adolescents with ASD and 5 typically-developing adolescents completed a narrative task, in which they were asked to retell a story of 4 animated cartoon clips. The results show that while there is no significant difference between the two groups in the frequency of gesture production and the types of gestures they produce, the frequency of gesture production in the individuals with ASD significantly depends on their verbal working memory skills. Moreover, it seems that many impairments that were confirmed by earlier studies for ASD children in early and late childhood seem to be mere delays that get resolved over time, such as the usage of supplementary gestures.

Neurexin gene family variants as risk factors for autism spectrum disorder

2017 ◽  
Vol 11 (1) ◽  
pp. 37-43 ◽  
Author(s):  
Jia Wang ◽  
Jianhua Gong ◽  
Li Li ◽  
Yanlin Chen ◽  
Lingfei Liu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Autism Spectrum Disorder ◽  
Gene Family ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals TNF-α expression ratio of M1/M2 macrophages is a potential adjunctive tool for the diagnosis of autism spectrum disorder

2020 ◽  
Author(s):  
Takahira Yamauchi ◽  
Manabu Makinodan ◽  
Michihiro Toritsuka ◽  
Kazuki Okumura ◽  
Yoshinori Kayashima ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Area Under The Curve ◽  
Positive Likelihood Ratio ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
M2 Macrophages ◽  
Expression Ratio ◽  
Tnf Α ◽  
Significant Difference ◽  
Factor Α

Abstract Background The etiology of autism spectrum disorder (ASD) is complex. Its pathobiology is characterized by enhanced inflammatory activities; however, the exact ASD pathobiology remains unclear. Some cases of ASD are difficult to diagnose using existing psychological assessments because the careful exclusion of other psychiatric disorders is challenging. To distinguish between the appropriate targets for interventions and research, the demand for identifying efficient diagnostic biomarkers is increasing. This study aimed to find an inflammatory indicator beneficial for the diagnosis of ASD.Methods Cytokine mRNA expression, including tumor necrosis factor-α (TNF-α), was measured in the differentiated M1 and M2 macrophages of ASD patients (n = 29) and typically developed (TD) individuals (n = 30). TNF-α expression was also measured in the monocytes of ASD patients (n = 7) and TD individuals (n = 6).Results TNF-α expression in M1 macrophages and TNF-α expression ratio of M1/M2 macrophages were markedly higher in ASD patients than in TD subjects; however, this difference was not observed in M2 macrophages (M1: p < 0.01; ratio of M1/M2: p < 0.0001; M2: p > 0.05), suggesting that this indicator could be a useful tool for diagnosing ASD (M1: sensitivity = 34.5%, specificity = 96.7%, area under the curve (AUC) = 0.74, positive likelihood ratio (PLR) = 10.34; ratio of M1/M2: sensitivity = 55.2%, specificity = 96.7%, AUC = 0.79, PLR = 16.55). However, there was no significant difference in the TNF-α expression in monocytes between ASD and TD individuals (p > 0.05).Conclusion These findings suggest that TNF-α expression in differentiated macrophages represents a novel adjunctive tool for the diagnosis of ASD.

scholarly journals Neural correlates of cardiac interoceptive accuracy across development: implications for social symptoms in autism spectrum disorders

2019 ◽  
Author(s):  
Michelle D. Failla ◽  
Lauren K. Bryant ◽  
Brynna H. Heflin ◽  
Lisa E. Mash ◽  
Kim Schauder ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Emotional Health ◽  
Neural Correlates ◽  
Autism Spectrum ◽  
Developmental Trajectory ◽  
Spectrum Disorder ◽  
Curvilinear Relationship ◽  
Significant Difference ◽  
Interoceptive Accuracy ◽  
Interoceptive Cues

AbstractBackgroundInteroception involves the processing of sensory information relevant to physiological functioning and is integral to building self-awareness, emotional states, and modulating social behaviors. With the role of interoception in emotional processing and social functioning, there is growing interest in characterizing interoception in autism spectrum disorder (ASD), yet, there are mixed results regarding cardiac interoceptive accuracy in ASD.MethodsIn this study, we explored the neural basis of cardiac interoception using an fMRI heartbeat counting task in order to assess neural correlates of primary interoception. We predicted that interoceptive-specific response in the insula, a “hub” for interoception, would be related to ASD symptomatology. We investigated the relationship of insula responses during cardiac interoceptive accuracy and a self/caregiver-reported autism-related symptom scale (Social Responsiveness Scale-2 (SRS)). Participants included 46 individuals with autism spectrum disorder (ASD) (age 8-54, mean= 19.43±10.68 years) and 54 individuals with typical development for comparison (TC, age 8-53, mean= 21.43±10.41 years).ResultsWe found no significant difference in cardiac interoceptive accuracy or neural response to cardiac interoception in ASD. Several insula sudivisons had a curvilinear relationship to age, peaking in early adulthood. Interoceptive-specific insula response was associated with adult self-report SRS scores; this association differed by diagnostic group and self/other report.ConclusionsThis work suggests that 1) there is no global deficit in interoception in ASD, but that integrating interoceptive cues with social information may distinguish individuals with ASD, and 2) there is a developmental trajectory for interoceptive processing in the insula that may be relevant for socio-emotional health.

scholarly journals PENGARUH SUBSTITUSI TEPUNG IKAN LELE TERHADAP PEMBUATAN COOKIES BEBAS GLUTEN DAN KASEIN SEBAGAI ALTERNATIF JAJANAN ANAK AUTISM SPECTRUM DISORDER [Effect of Catfish Flour Substitution towards Gluten-Free and Casein-Free Cookies as an Alternative Snack for Children with Autism Spectrum Disorder]

2019 ◽  
Vol 14 (1) ◽  
pp. 35
Author(s):  
Aliffah Nurria Nastiti ◽  
Juliana Christyaningsih
Keyword(s):  
Autism Spectrum Disorder ◽  
Nutritional Value ◽  
Calcium Content ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Gluten Free ◽  
Randomized Design ◽  
High Calcium ◽  
Significant Difference

Children with Autism Spectrum Disorder (ASD) have digestive disorders, therefore their diet should be gluten-free and casein-free. Gluten-free and casein-free foods tend to be low in protein. ASD children who apply a gluten-free diet and casein have a lower calcium intake and low in bone density. Catfish flour with high protein and calcium content were expected to increase the nutritional value (protein and calcium) of cookies which gluten-free and casein-free. This study was aimed to determine the effect of catfish flour substitution towards acceptance and nutritional value of gluten and casein free cookies as an alternative snack for ASD children. This study was experimental research with Completely Randomized Design. Panelists of this study were children with ASD (4-6 years) and their parents as many as 40 people. There were 4 formulas in this study, F0 was control, and 3 substitution formulas. Percentage of Flour substitution were, F2 (2%: 2%); F3 (4%: 4%); and F5 (6%: 4%). Kruskal Wallis test showed no significant difference in the level on acceptance level in taste and aroma between F0, F3, and F5. The acceptability and nutritional value's ranking showed the best formula was F5. 100 grams of F5 cookies (protein: 6.75 g; calcium: 247.51 mg) can fulfill 19% of the protein and 24.8% calcium of children RDA (4-6 years). Gluten-free and casein-free cookies with catfish (Formula 5) with enough protein and high calcium can be an alternative snack for ASD children.

scholarly journals Investigation of circulating serum microRNA-328-3p and microRNA-3135a expression as promising novel biomarkers for autism spectrum disorder

2018 ◽  
Vol 21 (2) ◽  
pp. 5-12 ◽  
Author(s):  
NT Popov ◽  
DS Minchev ◽  
MM Naydenov ◽  
IN Minkov ◽  
TI Vachev
Keyword(s):  
Autism Spectrum Disorder ◽  
Expression Patterns ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Circulating Mirnas ◽  
Control Subjects ◽  
Serum Mirnas ◽  
Postmortem Brain Tissue ◽  
Healthy Control ◽  
Novel Biomarkers

Abstract Circulating microRNAs (miRNAs) are emerging as promising diagnostic biomarkers for autism spectrum disorder (ASD), but their usefulness for detecting ASD remains unclear. Nowadays, development of promising biomarkers for ASD remains a challenge. Recently, dysregulation of the miRNAs expression in postmortem brain tissue, serum and peripheral blood, have been associated with ASD. Circulating miRNAs are known to be secreted by a number of different cells and can interpose delivery of information into receiver cells, thus affecting their functions. Based on this fact, it is supposed that serum miRNAs could be a novel class of biomarkers for prognosis or diagnosis of pathological disorders including ASD. In the current research, we investigated whether the expression patterns of circulating miRNAs showed dysregulation in subjects diagnosed with ASD. Expression levels of serum miR-328-3p and miR-3135a were analyzed by quantitative reverse transcription polymerase chain reaction (qRT-PCR) method of subjects diagnosed with ASD in comparison with healthy control subjects. Our data showed that miR-328-3p and miR-3135a were substantially down-regulated in ASD patients than in those of healthy control subjects. Moreover, target gene analysis of altered serum miRNAs displayed that these molecules targeted 162 genes denoted as unique validated targets in the miRWalk database, 71 of which appear to participate in biological pathways involved in synaptic pathways and neurodegenerative condition such as Alzheimer, Huntington and Parkinson diseases. Finally, the results strongly suggested that dys-regulated serum miRNAs might be involved in molecular pathways associated with ASD and miR-328-3p and miR-3135a have the potential to be promising novel biomarkers for ASD.

scholarly journals Associations  between autism spectrum disorder and eating disorders with and without self-induced vomiting: an empirical study

2020 ◽  
Author(s):  
Noriko Numata ◽  
Akiko Nakagawa ◽  
Kazuko Yoshioka ◽  
Kayoko Isomura ◽  
Daisuke Matsuzawa ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Eating Disorders ◽  
Eating Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
University Hospital ◽  
Autism Spectrum Quotient ◽  
Essential Difference ◽  
Illness Duration ◽  
Significant Difference

Abstract Background: Although approximately 23% of anorexia nervosa (AN) patients have concomitant autism spectrum disorder (ASD), it is clinically difficult to determine ASD coexistence in patients with eating disorders. Restrictive AN is more common in younger patients and self-induced vomiting usually appears during adolescence/young adulthood, in order to prevent gaining weight caused by overeating. However, some patients are tolerant of weight gain even if they start overeating. It is important to understand the essential difference between those who vomit and those who do not vomit. In this study, we hypothesised that the absence of self-induced vomiting may be associated with the presence of ASD and aimed to assess the presence of ASD traits in each eating disorder (EDs). Clarifying this association helps to consider the coexistence of ASD in the clinical setting and can lead to the next detailed ASD evaluation, and as a result, helps to determine the appropriate treatment and support individually.Methods: We retrospectively evaluated 43 females aged 15–45 years who attended Chiba University Hospital between 2012 and 2016 using the Eating Disorder Examination Questionnaire (EDE-Q) and Autism-Spectrum Quotient (AQ) to quantify the severity of the EDs and to identify whether ASD traits were present.Results: There was no difference in the AQ score between bingeing-purging type AN and restricting type AN. However, there was significant difference in the AQ score between bulimia nervosa and binge EDs (BED). Of the 4 ED subtypes, BED had the highest ASD traits. The non-vomiting group with illness duration <4 years had a significantly higher AQ communication score than the vomiting group with illness duration ≥ 4 years.Conclusions: There was a difference in the AQ score by the presence or absence of self-induced vomiting. The results of this study suggest an association between high scores on AQ and non-vomiting. Thus, evaluation of patients for the absence of self-induced vomiting while assessing them for EDs may help us to understand the association with ASD traits.

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