Evaluation of carnitine levels in dried blood spot samples in children with autism spectrum disorder

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.

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Mitochondrial Dysfunction in Early Diagnosed Autism Spectrum Disorder Children

Journal of Dhaka Medical College ◽

10.3329/jdmc.v26i1.34000 ◽

2017 ◽

Vol 26 (1) ◽

pp. 43-47 ◽

Cited By ~ 3

Author(s):

Shorifa Shahjadi ◽

Arif Salam Khan ◽

Mesbah Uddin Ahmed

Keyword(s):

Autism Spectrum Disorder ◽

Mitochondrial Dysfunction ◽

Venous Blood ◽

Autism Spectrum ◽

Serum Lactate ◽

Spectrum Disorder ◽

Control Group ◽

P Value ◽

Blood Ammonia ◽

Normal Children

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 samplet 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

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Feasibility of the stress and anger management program on children with high functioning autism spectrum disorder in a sample population from Karachi

European Psychiatry ◽

10.1016/j.eurpsy.2016.01.1290 ◽

2016 ◽

Vol 33 (S1) ◽

pp. S360-S360

Author(s):

B. Tauseef ◽

Z. Zadeh ◽

B. Fatima

Keyword(s):

Autism Spectrum Disorder ◽

Anger Management ◽

High Functioning Autism ◽

Treatment Protocol ◽

Autism Spectrum ◽

Management Program ◽

Spectrum Disorder ◽

Control Group ◽

Sample Population ◽

Waitlist Control Group

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.

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Serum vitamin B12 and folic acid status in Autism spectrum disorder children

Journal of Bangladesh Society of Physiologist ◽

10.3329/jbsp.v14i2.44783 ◽

2020 ◽

Vol 14 (2) ◽

pp. 43-47

Author(s):

Syeda Nusrat Mahruba ◽

Shelina Begum ◽

Shorifa Shahjadi ◽

Sharmin Afroz ◽

Umme Raihan Siddiqi ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Folic Acid ◽

Vitamin B12 ◽

Neurodevelopmental Disorder ◽

Serum Vitamin ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Control Group ◽

P Value ◽

Healthy Children

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

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Possibility that the Onset of Autism Spectrum Disorder is Induced by Failure of the Glutamine-Glutamate Cycle

Current Molecular Pharmacology ◽

10.2174/1874467213666200319125109 ◽

2020 ◽

Vol 14 (2) ◽

pp. 170-174

Author(s):

Koichi Kawada ◽

Nobuyuki Kuramoto ◽

Seisuke Mimori

Keyword(s):

Autism Spectrum Disorder ◽

Endoplasmic Reticulum ◽

Environmental Factors ◽

Endoplasmic Reticulum Stress ◽

Synapse Formation ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Neurodevelopmental Disease ◽

Number Of Patients ◽

The Brain

: Autism spectrum disorder (ASD) is a neurodevelopmental disease, and the number of patients has increased rapidly in recent years. The causes of ASD involve both genetic and environmental factors, but the details of causation have not yet been fully elucidated. Many reports have investigated genetic factors related to synapse formation, and alcohol and tobacco have been reported as environmental factors. This review focuses on endoplasmic reticulum stress and amino acid cycle abnormalities (particularly glutamine and glutamate) induced by many environmental factors. In the ASD model, since endoplasmic reticulum stress is high in the brain from before birth, it is clear that endoplasmic reticulum stress is involved in the development of ASD. On the other hand, one report states that excessive excitation of neurons is caused by the onset of ASD. The glutamine-glutamate cycle is performed between neurons and glial cells and controls the concentration of glutamate and GABA in the brain. These neurotransmitters are also known to control synapse formation and are important in constructing neural circuits. Theanine is a derivative of glutamine and a natural component of green tea. Theanine inhibits glutamine uptake in the glutamine-glutamate cycle via slc38a1 without affecting glutamate; therefore, we believe that theanine may prevent the onset of ASD by changing the balance of glutamine and glutamate in the brain.

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Cellular Bioenergetic and Metabolic Changes in Patients with Autism Spectrum Disorder

Current Topics in Medicinal Chemistry ◽

10.2174/1568026621666210521142131 ◽

2021 ◽

Vol 21 ◽

Author(s):

Maria Gevezova ◽

Danail Minchev ◽

Iliana Pacheva ◽

Yordan Sbirkov ◽

Ralitsa Yordanova ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Mononuclear Cells ◽

Cell Metabolism ◽

Strong Dependence ◽

Autism Spectrum ◽

Metabolic Changes ◽

Spectrum Disorder ◽

Control Group ◽

Peripheral Blood Mononuclear ◽

And Gender

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.

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Speech-in-noise recognition and the relation to vocal pitch perception in adults with autism spectrum disorder and typical development

10.31234/osf.io/u84vd ◽

2019 ◽

Cited By ~ 1

Author(s):

Stefanie Schelinski ◽

Katharina von Kriegstein

Keyword(s):

Autism Spectrum Disorder ◽

High Functioning Autism ◽

Autism Spectrum ◽

Pitch Perception ◽

Spectrum Disorder ◽

Control Group ◽

Noise Levels ◽

Adults With Autism ◽

Speech In Noise ◽

Vocal Pitch

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.

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Effect of physical therapy on 7- to 10-year-old children with autism spectrum disorder: A retrospective study in a university day hospital

Bulletin of the Menninger Clinic ◽

10.1521/bumc.2021.85.4.385 ◽

2021 ◽

Vol 85 (4) ◽

pp. 385-404

Author(s):

Jokthan Guivarch ◽

Elisabeth Jouve ◽

Elodie Avenel ◽

François Poinso ◽

Laura Conforti-Roussel

Keyword(s):

Autism Spectrum Disorder ◽

Retrospective Study ◽

Motor Impairment ◽

Autism Spectrum ◽

The Body ◽

Spectrum Disorder ◽

Control Group ◽

Autistic Children ◽

Dance Movement ◽

Cascading Effect

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.

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Effects of pivotal response treatment on reciprocal vocal contingency in a randomized controlled trial of children with autism spectrum disorder

Autism ◽

10.1177/1362361320903138 ◽

2020 ◽

Vol 24 (6) ◽

pp. 1566-1571

Author(s):

Jena McDaniel ◽

Paul Yoder ◽

Madison Crandall ◽

Maria Estefania Millan ◽

Christina Mich Ardel ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Children With Autism ◽

Parent Report ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Pivotal Response Treatment ◽

Control Group ◽

Child Interaction ◽

Parent Child Interaction ◽

Treatment Package

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.

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Adherence and acceptability of a robot-assisted Pivotal Response Treatment protocol for children with autism spectrum disorder

Scientific Reports ◽

10.1038/s41598-020-65048-3 ◽

2020 ◽

Vol 10 (1) ◽

Author(s):

Iris van den Berk-Smeekens ◽

Martine van Dongen-Boomsma ◽

Manon W. P. De Korte ◽

Jenny C. Den Boer ◽

Iris J. Oosterling ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Treatment Protocol ◽

Children With Autism ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Pivotal Response Treatment ◽

Robot Assisted

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Parental perception of stress and emotional-behavioural difficulties of children with autism spectrum disorder and specific language impairment

Autism & Developmental Language Impairments ◽

10.1177/2396941520971502 ◽

2020 ◽

Vol 5 ◽

pp. 239694152097150

Author(s):

Magda Di Renzo ◽

Federico Bianchi di Castelbianco ◽

Elena Vanadia ◽

Massimiliano Petrillo ◽

Lidia Racinaro ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Language Impairment ◽

Specific Language Impairment ◽

Children With Autism ◽

Well Being ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Sensory Profile ◽

Control Group ◽

Specific Language

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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