scholarly journals Features of folate cycle disorders in children with ASD

2020 ◽  
Vol 19 (4) ◽  
pp. 737-742
Author(s):  
DmitryV Maltsev

Aim: to show the effect of genetically determined folate cycle deficiency in children with autism spectrum disorders (ASD). Participants: 89 children (57 boys; 32 girls, Ukraine, 2-10 years old); participants were diagnosed with ASD. The control group consisted of 34 children with ASD. Diagnostic methods:polymerase chain reaction (PCR), complex immunological research, diagnosis of infection, determination of biomarkers. Results and discussion:Hyperhomocysteinemia was revealed in 87% of cases (p <0.05; Z <Z0.05).The indicated form of immunodeficiency was noted among 91% participants in the study, while only in 27% children of the control group had a similar immunological phenotype.The serum concentration of folic acid was increased in 64%, and reduced in 21% of cases. An increase of vitamin B12 also occurred in 64%, and vitamin B6 - only in 43% of cases. Bangladesh Journal of Medical Science Vol.19(4) 2020 p.737-742

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 3046
Author(s):  
Margherita Prosperi ◽  
Elisa Santocchi ◽  
Elena Brunori ◽  
Angela Cosenza ◽  
Raffaella Tancredi ◽  
...  

Background: Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental conditions whose etiopathogenesis derives from a complex interaction between genetic liability and environmental factors. In this framework, mounting evidence suggests that immune system dysfunction could be a risk factor contributing to the development of ASD in at least a subpopulation of individuals. In particular, some studies suggest an association between celiac disease (CD)—a long-term autoimmune disorder that primarily affects the small intestine triggered by the ingestion of gluten—and ASD, while others hypothesized a random link. This investigation aimed to evaluate the prevalence of CD in a large sample of school-aged children with ASD and to characterize their clinical profile. Methods: Medical records of 405 children with ASD aged 5–11 years (mean age: 7.2 years; SD: 1.8 years) consecutively referred to a tertiary-care university hospital between January 2014 and December 2018 were reviewed; among them, 362 had carried out serological testing for CD. Results: Nine patients with positive CD serology were identified, eight of which satisfied the criteria for CD diagnosis. The estimated CD prevalence in ASD children was 2.18% (95% CI, 0.8–3.7), which was not statistically different (1.58%; p = 0.36) from that of an Italian population, matched for age range, considered as a control group (95% CI, 1.26–1.90). Three out of the eight ASD patients with CD did not have any symptoms suggestive of CD. Conclusions: Our findings did not show a higher prevalence of CD in ASD children than in the control population, but could suggest the utility of routine CD screening, given its frequent atypical clinical presentation in this population.


2020 ◽  
Vol 98 (4) ◽  
pp. 48-54
Author(s):  
T.F. Golubova ◽  
L.A. Tsukurova ◽  
A.V. Nuvoli ◽  
S.V. Vlasenko ◽  
E.A. Savchuk E.A.

The aim of the study was to study the effect of bishovite baths on the dynamics of plasma S100B protein in children with autism spectrum disorders (ASD). Material and methods. 45 children with autism (F84) aged from 6 to 15 years were examined – general croup (GG). The control group (KG) consisted of 25 healthy children. I group – 22 children who received the health research therapy (HRT); II group – 23 children who received a course of the baths with bishophite. The examination included examination by specialists, an assessment of the severity of the disease using the CARS scale (Children’s Rating Scale of Autism), evaluation in blood serum of protein S100B. Results. The content of S100B in children with autism was significantly higher in comparison with KG. The level of S100B in children with ASD with abnormal development of brain structures (MRI) was significantly higher in comparison with KG and with a group of children without signs of violation of brain structures. With hard ASD the S100B indicators were higher, and at medium severity did not differ significantly from the KG. After the treatment only in the II group, there was a significant decrease in S100B in GG in children with abnormalities in the development of the brain and with severe severity. Conclusions. The majority of children with ASD with anomalies of brain structures, there are signs of hypoxia of the brain and violation of the blood-brain barrier. A positive effect of bischophite baths was revealed in children with ASD, having antioxidant, antitoxic, and neuroprotective effects.


2017 ◽  
Vol 13 (3) ◽  
Author(s):  
Justyna Siwek ◽  
Aleksandra Kawala-Janik ◽  
Piotr Walecki

AbstractIntroduction:The occurrence of autism spectrum disorders (ASD) has significantly increased in the last few years. One of the common problems in this group are eating disorders and ailments from the gastrointestinal systems. According to some studies, these problems have a significant impact on the occurrence and severity of symptoms in the neurological system, so it is crucial to increase the attention paid on the role of diet in the treatment of this disease. One of the theories connects ASD with disorders of the digestive system and the intestinal bacterial flora. This theory is based on the gut-brain axis, which means the interaction between the gastrointestinal and nervous systems.Objectives:To demonstrate the differences in behavior habits, interest in nutrition, and frequency of consumption of food products between children suffering from ASD and healthy children.Materials and methods:The study was conducted among 44 children suffering from ASD and 33 healthy children as a control group. Data were collected using a questionnaire that was specially designed for this study. The questionnaire contained questions about eating habits and the frequency of consumption of selected food products.Results:Parents of healthy children showed more interest in their children’s way of feeding and nutritional recommendations compared to parents of children with ASD (4% and 11.3%, respectively). In addition, 24.3% more children with ASD consulted with a nutritionist compared to the control group. Complaints of the digestive system were 21.1% more likely by children with ASD. Children suffering from ASD were characterized by a higher intake of red meat and giblets and less frequent consumption of milk and milk products compared to the control group. There were no statistically significant differences between the study group and the control group in terms of frequency of consumption of products, which are the source of gluten, artificial food additives-preservatives, and artificial colors.Conclusions:There are differences in the habits and eating behaviors and the frequency of consumption of selected food products between a group of children with ASD and a group of healthy children.


2013 ◽  
Vol 71 (11) ◽  
pp. 871-876 ◽  
Author(s):  
Renata de Lima Velloso ◽  
Cintia Perez Duarte ◽  
Jose Salomao Schwartzman

Objective To evaluate the theory of mind in autism spectrum disorders (ASD) and control individuals by applying the Strange Stories test that was translated and adapted to the Portuguese language. Method Twenty-eight children with ASD and 56 controls who were all male and aged between 6 and 12 years participated in the study. Results There were significant differences between the median scores of the groups for each of the 12 stories of the test and for the sum total of all the median scores. The median scores for all stories were significantly greater in the control group than those in the experimental group (children with ASD). In addition, the protocol had excellent internal consistency. Conclusion The theory of mind skills assessed with the Strange Stories test indicated alterations in children with ASD compared with children in the control group.


2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Ning Li ◽  
Ling Li ◽  
Guimei Li ◽  
Zhongtao Gai

Randomized controlled trials (RCTs) have reported an inconsistent relationship about the auditory integration training (AIT) in children with autism spectrum disorders (ASD) among Chinese. The current study was to investigate the efficacy of AIT for children with ASD compared with those in control group by using meta-analysis. Relevant trials published were identified by an electronic search of PubMed, CENTRAL, EMBASE, WanFang, CNKI, and SinoMed databases up to December 31, 2017. Outcome of interest included childhood autism rating scale (CARS), autism behavior checklist (ABC), intelligence quotient (IQ), and autism treatment evaluation checklist (ATEC). Standardized mean difference (SMD) with 95% confidence intervals (CIs) was calculated using a random-effect model. Thirteen RCTs with 976 children with ASD were included for analysis. The pooled SMD showed that children with ASD had significantly lower ABC scores [summary SMD = −0.58, 95%CI = −0.79 to −0.38] and ATEC scores [summary SMD = −0.75, 95%CI = −1.05 to −0.45] in AIT group compared with that in control group. The analysis of pooled statistics put forward AIT could increase the IQ score when compared with that in control group [summary SMD = 0.59, 95%CI = 0.41–0.77]. A negative association was found about CARS scores between AIT group and control group. No publication bias was found and no single study had essential effect on the pooled results. In conclusions, AIT can reduce the score of ABC and ATEC and can increase the IQ score among children with ASD in Chinese. Therefore, it is recommended for Chinese children with ASD to receive AIT.


2018 ◽  
pp. 11-23
Author(s):  
D. V. Maltsev

Children with autism spectrum disorders have repeatedly reported the presence of signs of immunodeficiency and immune dysregulation. Objective: to study the association of genetic folate cycle deficiency with violations of various parameters of the immune status in children with autism spectrum disorders. Study group (SG) were 78 children with a genetic folate cycle deficiency and autism spectrum disorders. The control group (CG) was formed by 34 healthy patients the appropriate age and gender. All participants underwent a comprehensive immunological examination during the observation period (2–5 years). Statistical analysis was performed using the method of variation statistics with Student’s T-test and non-parametric test of signs Z by Urbach. In addition, the calculated χ-squared Pearson criteria, odds ratio and 95% confidence interval. It was significantly lower average number of NK- and NKT-cells and myeloperoxidase in the peripheral blood of SG children compared to the CG (P > 0,05; Z > Z0,05). A relationship of genetic folate cycle deficiency with selective deficiency of the NK- (χ2 = 37,69, P = 0,01; OR = 11,18, 95 % CI = 4,34–28,50; α = 0,05) and NKT-cells (χ2 = 38,01, P = 0,01; OR = 18,08, 95 % CI = 6,42–50,41; α = 0,05) and myeloperoxidase (χ2 = 6,43, P = 0,05; OR = 3,97, 95 % CI = 1,27–12,42; α = 0,05) was observed. Discovered violations of immune status may explain the origin of the well-known broad clinical phenotype in children with autistic spectrum disoders. We described a new form of primary immunodeficiency associated with a genetic folate cycle disorder, with predominant involvement of NK- and NKT-cells.


2021 ◽  
Vol 17 (3) ◽  
pp. 22-37
Author(s):  
D.V. Maltsev

Relevance. The results of five meta-analyzes of randomized controlled clinical trials indicate an association between genetic deficiency of the folate cycle (GDFC) and autism spectrum disorders (ASD) in children. Autoimmune mechanisms play a special role in the pathogenesis of encephalopathy in children with ASD associated with GDFC. Objective: to study the structure of autoimmune reactions in children with ASD associated with GDFC, according to the accumulated evidence base and to identify associations of laboratory signs of autoimmunity and microorganisms to improve understanding of encephalopathy pathogenesis and diagnostic, monitoring and treatment algorithms. Materials and methods. The medical data of 225 children aged 2 to 9 years with GDFC, who had clinical manifestations of ASD (183 boys and 42 girls) were retrospectively analyzed. The diagnosis of ASD was made by child psychiatrists according to the criteria DSM-IV-TR (Diagnostic and Statistical Manual of mental disorders) and ICD-10 (The International Statistical Classification of Diseases and Related Health Problems) (study group; SG). The control group (CG) included 51 clinically healthy children (37 boys and 14 girls) of similar age and gender distribution who did not suffer from GDFC and ASD. Pathogenic polymorphic variants of folate cycle genes were determined by PCR with restriction (Sinevo, Ukraine). Autoantibodies to autoantigens of CNS subcortical ganglion neurons in blood serum were determined using a Cunningham panel (Moleculera Labs, Inc, USA). Serum autoantibodies to neurons of the mesolimbic system of the brain were identified by ELISA (MDI Limbach Berlin GmbH, Germany). Autoimmunization to myelin was assessed by serum autoantibody titer to basic myelin protein (ELISA) and signs of neutrophil and CD8+ T-lymphocyte sensitization to hemispheric white matter autoantigens (cell-based assay; department of neuroimmunology at the Neurosurgery Institute; Ukraine). Serum autoantibodies to nuclei of connective tissue cells and striated muscle proteins were determined by western blot analysis (Sinevo, Ukraine). To determine the significance of the differences between the indicators in the observation groups, we used the Student's parametric T-test with the confidence probability p and the nonparametric criterion – the number of signs Z according to Urbach Yu.V. The odds ratio (OR) and the 95% confidence interval (95% CI) were used to study the associations between the studied indicators. The study was performed as a fragment of research work commissioned by the Ministry of Health of Ukraine (№ state registration 0121U107940). Research. Positive results of the Cunningham panel occurred in 32%, laboratory signs of autoimmunization to neurons of the mesolimbic system – 36%, myelin of white matter of the hemispheres – 43%, nuclei autoantigens of connective tissue cells – 53%, proteins of striated muscles – 48% of cases among children SG (in general – 68% of cases; p < 0.05; Z < Z0.05). Serological signs of autoimmunization to autoantigens of the subcortical ganglia of the cerebral hemispheres were associated with Streptococcus pyogenes and Borrelia, to neurons of the mesolimbic system – EBV, HHV-6, HHV-7, Toxoplasma and TTV, to CNS myelin – EBV, HHV-6, HHV-7, Borrelia and TTV, to the nuclei of connective tissue cells and striated muscles – EBV, HHV-6, HHV-7, Borrelia and TTV. Conclusions. In children with ASD associated with GDFC laboratory sings of microbial-induced autoimmunity to a number of cerebral and extracerebral autoantigens has been evaluated, which affects the mental and physical health of patients and is a potential target for effective therapeutic interventions.


2012 ◽  
Vol 2012 ◽  
pp. 1-11 ◽  
Author(s):  
Agnes S. Chan ◽  
Sophia L. Sze ◽  
Yvonne M. Y. Han ◽  
Mei-chun Cheung

Executive dysfunctions have been found to be related to repetitive/disinhibited behaviors and social deficits in autism spectrum disorders (ASDs). This study aims to investigate the potential effect of aShaolin-medicine-based dietary modification on improving executive functions and behavioral symptoms of ASD and exploring the possible underlying neurophysiological mechanisms. Twenty-four children with ASD were randomly assigned into the experimental (receiving dietary modification for one month) and the control (no modification) groups. Each child was assessed on his/her executive functions, behavioral problems based on parental ratings, and event-related electroencephalography (EEG) activity during a response-monitoring task before and after the one month. The experimental group demonstrated significantly improved mental flexibility and inhibitory control after the diet modification, which continued to have a large effect size within the low-functioning subgroup. Such improvements coincided with positive evaluations by their parents on social communication abilities and flexible inhibitory control of daily behaviors and significantly enhanced event-related EEG activity at the rostral and subgenual anterior cingulate cortex. In contrast, the control group did not show any significant improvements. These positive outcomes of a one-month dietary modification on children with ASD have implicated its potential clinical applicability for patients with executive function deficits.


Autism ◽  
2020 ◽  
pp. 136236132094688
Author(s):  
Paul J Yoder ◽  
Wendy L Stone ◽  
Sarah R Edmunds

Younger siblings of children with autism spectrum disorders (HR-Sibs) are at elevated risk for social communication deficits and language delays. One way to mitigate this risk early, before these deficits and delays become clear or impairing, may be to equip parents to use the strategies taught through the Improving Parents as Communication Teachers (ImPACT) intervention. In this randomized control trial, 97 HR-Sibs (mean age 14 months) and their primary caregiver were randomized to either ImPACT or a business-as-usual control group. Our a priori, preregistered hypothesis was that parents’ participation in ImPACT training would indirectly attenuate younger siblings’ social communication challenges 9 months later by sequentially increasing parents’ use of ImPACT strategies immediately after the intervention phase and by improving children’s midpoint proximal skills (e.g. motor imitation or intentional communication). Results supported this prediction. Lay abstract Later born siblings of children with autism spectrum disorders (ASD) are at elevated risk for language delay or ASD. One way to manage this risk may be for parents to use techniques taught in Improving Parents as Communication Teachers (ImPACT) with the younger siblings during the period in which language delay and ASD may be too subtle to be diagnosed. ImPACT targets children’s play, imitation, and communication skills. Improvement in these skills may reduce the severity of language delays and social communication deficits associated with ASD. In this study, 97 younger siblings of children with ASD and their primary parents were randomly assigned to ImPACT or a control group. We measured whether parents used ImPACT teaching strategies and whether children used the skills that ImPACT targets. We also measured children’s later language ability and social communication skills. The results confirmed our predictions that parents’ use of ImPACT strategies improves language ability by improving children’s motor imitation and communication skills. Use of ImPACT also had a positive effect on children’s language delay and ASD symptoms, supporting the clinical value of the findings. The study’s methodological strengths make this one of the most rigorous tests of ImPACT and supports one way to manage the risk of language delay and ASD in younger siblings of children with ASD.


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