scholarly journals Mitochondrial Dysfunction in Early Diagnosed Autism Spectrum Disorder Children

2017 ◽  
Vol 26 (1) ◽  
pp. 43-47 ◽  
Author(s):  
Shorifa Shahjadi ◽  
Arif Salam Khan ◽  
Mesbah Uddin Ahmed

Background: Mitochondrial dysfunction and abnormal brain bioenergetics can cause autism.Cellular function impairment due to mitochondrial dysfunction may cause cognitive impairment, language deficits and abnormal energy metabolism in autism.Objective: The aim of this study was to evaluate biochemical evidence of the mitochondrial dysfunction by measuring blood ammonia, serum lactate, alanine aminotransferase (ALT), aspartate aminotransferase (AST) and creatinine kinase (CK) in autism spectrum disorder children.Methods: This observational type of analytical study with case-control design was conducted in the Department of Physiology of Bangabandhu Sheikh Mujib Medical University (BSMMU), Shahbag, Dhaka. For this study, a total number of 20 Subjects were randomly selected, among which 10 were apparently healthy subjects (control group-A) for comparison and 10 were diagnosed children with autism spectrum disorder (study group-B). 5ml venous blood was collected from both groups for analysis serum CK, AST, ALT, lactate and blood ammonia. Blood ammonia, serum lactate, AST, ALT and CK level were estimated in all children by standard laboratory method. Independent sample‘t’ test was used for statistical analysis. P value <0.05 was accepted as significant. The mean of all the measured biochemical variables in normal children were within normal ranges.Result: Blood ammonia, serum lactate, AST, CK were found significantly higher in autism spectrum disorder children in comparison to control Conclusion: From the result of this study it may be concluded that mitochondrial dysfunction occur in autistic spectrum disorder children .J Dhaka Medical College, Vol. 26, No.1, April, 2017, Page 43-47

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ozgur Aslan ◽  
Burcu Kardaş ◽  
Mehmet Nuri Özbek ◽  
Bahadır Ercan

Abstract Objectives Autism Spectrum Disorder is a neurodevelopmental disease with an average diagnosis age of over 3 years. Carnitine levels in ASD are important because they show potential mitochondrial dysfunction and abnormal fatty acid metabolism. In this study, in ASD children carnitine levels in dried blood spot samples were evaluated and compared with the control group. Methods Twentythree children diagnosed with ASD in Research and Training Hospital (19 boys, 4 girls) and age and gender matched 24 children without ASD were enrolled in this study. 17 carnitines in dried blood samples were measured with LC-MS/MS. Results C0, C2, C4-OH, C5, C5-OH, C6, C16, C18 carnitines were lower (p value 0.037, 0.010, 0.005, 0.032, 0.005, 0.003, 0.043, 0.003, respectively) and C18:1 carnitine was higher (p<0.025) in ASD group compared with control group. Conclusions Comprehensive carnitine levels for ASD are important to establish a treatment protocol for the treatment of ASD behavior and severity. C18:1 carnitine, detected for the first time in the cases with ASD, is important for its high levels and for being a glycine transporter two inhibitor. In ASD cases, the molecular analysis might be suggested for enzymes involved in carnitine metabolism and for glycine transporter 2.


2021 ◽  
pp. 289-300
Author(s):  
George-Dănuț MOCANU ◽  
Maria GAVRILA UDREA

Introduction. Depressive states and anxiety are common symptoms of children with autism spectrum disorder (ASD). The persons with intellectual disabilities show problems related to the development of basic motor skills, having learning problems compared to normal ones, imbalances between the processes of arousal and inhibition, limited motor ability, difficult understanding of language and motor tasks, difficult concentration, mechanical assimilation etc. Objectives. The study analyzes the effectiveness of structures and motion games, applied in specific activities for children with intellectual disabilities (ID) and autism spectrum disorders (ASD). Material and Methods. The research involved an experimental group of 5 children with one of these disabilities or their combination (age 10-11 years), included in a training process at the Ion Teodorescu Special Vocational School in Slobozia / Ialomița / Romania and comparing their results with a control group (6 normal children, with an average age of 10 years), between 20.09.2020-10.03.2021. The assessment of the level of psychomotor and intellectual development was made by the Cutout Test, the Cohs Cube Test (light task configurations) and an Attention Flexibility Test (movement to the corners of the room/field depending on the assigned color, counting successful attempts and mistakes). Results and discussion. The obtained results confirm the working hypothesis, so the use of the structures and games proposed in the program contributes to a significant improvement of the psychomotor and intellectual performances of students with intellectual disabilities and autism spectrum. Conclusion. espite all these improvements, they cannot approach or equal the reference values of children without problems, falling into the same age category. Keywords: psychomotor skills, adapted physical activities, recovery, children, learning disabilities,


2020 ◽  
Vol 14 (2) ◽  
pp. 43-47
Author(s):  
Syeda Nusrat Mahruba ◽  
Shelina Begum ◽  
Shorifa Shahjadi ◽  
Sharmin Afroz ◽  
Umme Raihan Siddiqi ◽  
...  

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. The etiology of ASD involves gene-environmental interaction. Vitamin B12 and folic acid have important roles as methyl donor in many biosynthetic pathways, protein synthesis and formation of myelin sheath throughout the central nervous system. Therefore, deficiency of vitamin B12 and folic acid may act as environmental risk factor for ASD. Objective: To evaluate serum vitamin B12 and folic acid levels in ASD children. Methods: This cross-sectional study was conducted in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, from 2018 to 2019. Total 100 children 3-10 years of age were enrolled for this study.Among them fifty (50) diagnosed children with ASD were included in the study group. Fifty (50) healthy children constituted the control group. ASD children were selected from the Parent’s Forum for autistic children. No children were included receiving any vitamin supplementation or had acute illness. For this study, serum level of vitamin B12 and folic acid were measured by automated analyzer.For statistical analysis unpaired “t” test and chi square test were done. Result: The mean values of vitamin B12 and folic acid were significantly lower in ASD children than those of control group (p value <0.05). In addition 4% ASD children had vitamin B12 deficiency. Conclusion: Low serum vitamin B12 and folic acid was associated with ASD. J Bangladesh Soc Physiol. 2019, December; 14(2): 43-47


2020 ◽  
Vol 27 (2) ◽  
pp. 199-204
Author(s):  
Shorifa Shahjadi ◽  
Arif Salam Khan ◽  
Mesbah Uddin Ahmed ◽  
Mahmuda Karim ◽  
Shahana Parvin ◽  
...  

Background: Autism is a complex neurodevelopmental disorder and one of the major cause of lifelong disability. Magnesium, calcium and iron are important minerals of biological system. Hypomagnesaemia, hypocalcaemia and iron deficiency has been found to be associated with abnormal metabolic functions resulting in autistic spectrum disorder. Hypothesis: Serum magnesium, calcium and iron levels are lower in ASD children than healthy control. Objective: To measure serum magnesium, calcium and iron in ASDchildren and to compare them with healthy control. Method: This observational type of analytical study with case-control design was conducted in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka from March 2014–January 2016. For this study, 80 children aged 3-10 years were randomly selected, among which 40 were apparently healthy and 40 were diagnosed as ASD. The study group was selected from the Parents’ Forum (Mohakhali DOHS, Dhaka) for ASD children and the control group was selected from some regular schools. 5ml venous blood was collected from both groups for analysis of fasting serum magnesium, calcium and iron. Fasting magnesium, calcium and iron were estimated in all children by standard laboratory method. Independent sample‘t’ test and proportion (Z) test were used for statistical analysis. P value Â0.05 was accepted as significant. Result: The mean serum magnesium, calcium and iron were significantly lower (pÂ0.001) in cases as compared to controls. The frequency of hypomagnesaemia, hypocalcaemia and iron deficiency were significantly higher in early diagnosed ASD children, which was 7 (17.5%), 22 (55%) and 5 (12.5%) out of 40 ASD children respectively.The mean values of all the biochemical variables in normal children were within normal ranges. Conclusion: The results indicate that hypomagnesaemia, hypocalcaemia and iron deficiency are common in ASD children. J Dhaka Medical College, Vol. 27, No.2, October, 2018, Page 199-204


Author(s):  
Maria Gevezova ◽  
Danail Minchev ◽  
Iliana Pacheva ◽  
Yordan Sbirkov ◽  
Ralitsa Yordanova ◽  
...  

Background: Although Autism Spectrum Disorder (ASD) is considered a heterogeneous neurological disease in childhood, a growing body of evidence associates it with mitochondrial dysfunction explaining the observed comorbidities. Introduction: The aim of this study is to identify variations in cellular bioenergetics and metabolism dependent on mitochondrial function in ASD patients and healthy controls using peripheral blood mononuclear cells (PBMCs). We hypothesized that PBMCs may reveal the cellular pathology and provide evidence of bioenergetic and metabolic changes accompanying the disease. Method: PBMC from children with ASD and a control group of the same age and gender were isolated. All patients underwent an in-depth clinical evaluation. A well-characterized cohort of Bulgarian children was selected. Bioenergetic and metabolic studies of isolated PBMCs were performed with a Seahorse XFp analyzer. Result: Our data show that PBMCs from patients with ASD have increased respiratory reserve capacity (by 27.5%), increased maximal respiration (by 67%) and altered adaptive response to oxidative stress induced by DMNQ. In addition, we demonstrate а strong dependence on fatty acids and impaired ability to reprogram cell metabolism. The listed characteristics are not observed in the control group. These results can contribute to a better understanding of the underlying causes of ASD, which is crucial for selecting a successful treatment. Conclusion: The current study, for the first time, provides a functional analysis of cell bioenergetics and metabolic changes in a group of Bulgarian patients with ASD. It reveals physiological abnormalities that do not allow mitochondria to adapt and meet the increased energetic requirements of the cell. The link between mitochondria and ASD is not yet fully understood, but this may lead to the discovery of new approaches for nutrition and therapy.


2019 ◽  
Author(s):  
Stefanie Schelinski ◽  
Katharina von Kriegstein

We tested the ability to recognise speech-in-noise and its relation to the ability to discriminate vocal pitch in adults with high-functioning autism spectrum disorder (ASD) and typically developed adults (matched pairwise on age, sex, and IQ). Typically developed individuals understood speech in higher noise levels as compared to the ASD group. Within the control group but not within the ASD group, better speech-in-noise recognition abilities were significantly correlated with better vocal pitch discrimination abilities. Our results show that speech-in-noise recognition is restricted in people with ASD. We speculate that perceptual impairments such as difficulties in vocal pitch perception might be relevant in explaining these difficulties in ASD.


2016 ◽  
Vol 33 (S1) ◽  
pp. S360-S360
Author(s):  
B. Tauseef ◽  
Z. Zadeh ◽  
B. Fatima

IntroductionResearch shows that individuals with Autism Spectrum Disorder, struggle with emotional competence as compared to their typically developing counterparts. This leads to internalizing (stress) and externalizing (anger management) problems in the affected population. The stress and anger management program (STAMP) designed by Scarpa et al. is a manualized treatment protocol with good clinical efficacy.ObjectiveThe objective of the present study is to test the feasibility and suitability of STAMP as a systematized treatment protocol in Karachi and to enable the sample population, to become emotionally competent.AimThe aim is to evaluate the effectiveness of STAMP on the reduction of symptoms in the sample population.MethodTen children with high functioning autism spectrum disorder will be selected from various institutes in Karachi, and randomized to experimental and waitlist control group after pre-intervention assessment. Upon completion of the intervention with the experimental group, the waitlist control group will be offered the intervention. Both the groups will be assessed, immediately after the intervention, followed by a one-month follow up assessment.ResultsIt is expected that STAMP will significantly reduce the incidence of problem behaviours as measured by the standardized assessment questionnaires from the manual; as well as significantly reduce the severity of scores on the internalizing and externalizing components of the strength and difficulties questionnaire, in the experimental group as compared to the control group.ConclusionIt is expected that the results of the present study could be utilized to train mental health professionals in Karachi for systematized treatment of ASD and related problems.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Vol 85 (4) ◽  
pp. 385-404
Author(s):  
Jokthan Guivarch ◽  
Elisabeth Jouve ◽  
Elodie Avenel ◽  
François Poinso ◽  
Laura Conforti-Roussel

More than half of children who have autism spectrum disorder (ASD) suffer from motor impairment. In a retrospective study, the authors investigated the effect of a body-mediated workshop with dance movement therapy (DMT) on the motor skills and social skills of children with ASD by comparing 10 autistic children aged 7 to 10 years who benefited from DMT with 10 autistic children in a control group. Scores on the Movement Assessment Battery for Children and the Vineland Adaptive Behavior Scale were compared. The body-mediated workshop had significant benefits for motricity, especially manual dexterity, and for relational skills. A body-mediated workshop may have a multimodal effect and requires transmodal training. Regarding the mechanisms that explain the benefits and the cascading effect, the roles of imitation and multimodal connections are important.


Autism ◽  
2020 ◽  
Vol 24 (6) ◽  
pp. 1566-1571
Author(s):  
Jena McDaniel ◽  
Paul Yoder ◽  
Madison Crandall ◽  
Maria Estefania Millan ◽  
Christina Mich Ardel ◽  
...  

A pivotal response treatment package consisting of clinician-delivered and parent-implemented strategies was recently found to be effective in improving language and social communication deficits in children with autism spectrum disorder. Reciprocal vocal contingency, an automated measure of vocal reciprocity, may provide stronger and complementary evidence of the effects of the pivotal response treatment package. Reciprocal vocal contingency is derived through an automated process from daylong audio samples from the child’s natural environment. Therefore, reciprocal vocal contingency is at lower risk for detection bias than parent report and brief parent–child interaction measures. Although differences were non-significant at baseline and after 12 weeks of intervention for the 48 children with autism spectrum disorder who were randomly assigned to the pivotal response treatment package or a delayed treatment control group, the pivotal response treatment package group had higher ranked reciprocal vocal contingency scores than the control group after 24 weeks ( U = 125, p = .04). These findings are consistent with results from parent report and parent–child interaction measures obtained during the trial. The participants in the pivotal response treatment package exhibited greater vocal responsiveness to adult vocal responses to their vocalizations than the control group. Findings support the effectiveness of the pivotal response treatment package on vocal reciprocity of children with autism spectrum disorder, which may be a pivotal skill for language development. Lay abstract A recent randomized controlled trial found that children with autism spectrum disorder who received a pivotal response treatment package showed improved language and social communication skills following the intervention. The pivotal response treatment package includes clinician-delivered and parent-implemented strategies. Reciprocal vocal contingency is an automated measure of vocal reciprocity derived from daylong audio samples from the child’s natural environment. It may provide stronger and complementary evidence of the effects of the pivotal response treatment package because it is at lower risk for detection bias than parent report and brief parent–child interaction measures. The current study compared reciprocal vocal contingency for 24 children with autism spectrum disorder in the pivotal response treatment package group and 24 children with autism spectrum disorder in the control group. The pivotal response treatment package group received 24 weeks of the pivotal response treatment package intervention. The control group received their usual intervention services during that time. The groups did not differ in reciprocal vocal contingency when the intervention started or after 12 weeks of intervention. However, after 24 weeks the pivotal response treatment package group had higher ranked reciprocal vocal contingency scores than the control group. These findings are consistent with results from parent report and parent–child interaction measures obtained during the trial. The participants in the pivotal response treatment package exhibited greater vocal responsiveness to adult vocal responses to their vocalizations than the control group. Findings support the effectiveness of the pivotal response treatment package on vocal reciprocity of children with autism spectrum disorder, which may be a pivotal skill for language development.


2020 ◽  
Vol 5 ◽  
pp. 239694152097150
Author(s):  
Magda Di Renzo ◽  
Federico Bianchi di Castelbianco ◽  
Elena Vanadia ◽  
Massimiliano Petrillo ◽  
Lidia Racinaro ◽  
...  

Background and aims The daily challenges of caring for a child with autism spectrum disorder affect many areas of everyday life and parental well-being, as well as parents’ ability to manage the needs of the family and the child concerned. A better understanding of parents’ perception of their child’s characteristics can allow better support for them and individualize intervention protocols in a more accurate way. The main objective of this study is the evaluation of the perception of stress by parents of children with autism compared to parents of children with specific language impairment. Methods The parents of 87 children aged between 2 and 6 years were included in this study, 34 children with a specific language impairment diagnosis and 53 children with an autism spectrum disorder diagnosis (ASD) or at risk of developing it. They were asked to complete a self-report on perceived stress and rating scales on adaptive/problematic behaviours, executive functions and sensory profile of the child. Results The results reveal that parents of ASD children, compared to the control group, showed significantly higher levels of stress, mainly due to the difficulty of managing unexpected events, the feeling of loss of control over one's life and the fear of not being able to cope with the adversities they were experiences. The most critical area, both for ASD and control group, concern the executive function related to emotional reactions. Conclusions Thus, we argue that the difficulties in self-control, sensory modulation and emotional regulation, represent an element of stress for parents of children with developmental disorders. Implications: Regarding the difficulties of children with ASD, supporting the ways in which caregivers adapt to the signals of children is an important strategy, which has now become a key element of treatments for autism mediated by parents.


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