scholarly journals Connection of TF and TCF4 Gene Polymorphisms with ASD

Author(s):  
Maria Azmerin ◽  
Md. Saddam Hussain ◽  
Md. Siddiqul Islam ◽  
Md. Abdul Aziz ◽  
Md. Mizanur Rahman Moghal ◽  
...  

Abstract Though the prevalence of autism spectrum disorder (ASD) is increasing day by day, there is still a lack of a proper way to diagnose or prevent ASD. There is no study carried out in the Bangladeshi children with ASD to evaluate the association of Transferrin (TF) and Transcription Factor 4 (TCF4) genetic polymorphisms. This genetic association study was designed to explore the association of rs1867503 polymorphism of TF and rs9951150 polymorphism of TCF4 genes with ASD. We collected blood from 96 children with ASD and 118 healthy children of very similar age differences. Genotyping of these SNPs was performed by the PCR-RFLP method. SPSS (version 16) was used to estimate the odds ratio (OR) and their 95% confidence intervals (CI). The frequency of mutant allele G for rs1867503 and rs9951150 polymorphisms was found 48% and 44%, respectively. In our analysis, both TF and TCF4 polymorphisms showed an increased risk for the development of ASD. AG heterozygote, GG mutant homozygote, AG+GG combined genotype, and G mutant allele of TF rs1867503 showed a significantly elevated risk of ASD development (OR=3.18, p=0.0003; OR=2.62, p=0.0128; OR=2.98, p=0.0002; and OR=1.94, p=0.001, respectively). Likewise, AG heterozygote, GG mutant homozygote, AG+GG combined genotype, and G minor allele of TCF4 rs9951150 also showed a significantly elevated risk of ASD development (OR=2.92, p=0.0007; OR=2.36, p=0.0273; OR=2.72, p=0.0005; and OR=1.92; p=0.0014, respectively). Our results indicate that TF rs1867503 and TCF4 rs9951150 polymorphisms are strongly associated with the development of ASD in Bangladeshi children.

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.


Nutrients ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 4039
Author(s):  
Benedetta Raspini ◽  
Margherita Prosperi ◽  
Letizia Guiducci ◽  
Elisa Santocchi ◽  
Raffaella Tancredi ◽  
...  

Atypical eating habits are more common in children with autism spectrum disorders (ASD) than typically developing (TD) peers. Feeding problems may lead to the double burden of specific nutrient deficiencies and excessive weight gain, with a consequent increase in obesity prevalence. The dietary intake of Italian preschoolers with ASD compared to their TD peers and the impact of their dietary choices on their weight status and relationship to food selectivity (FS) were investigated. Dietary patterns and their associations with body mass index (BMI) were evaluated in 65 children with ASD and 82 peers with TD aged 1.3–6.4 years. Eating habits were assessed with a modified version of a parent-rated semi-quantitative Food Frequency Questionnaire. Moreover, the prevalence of FS and possible links with dietary patterns and BMI were investigated in the ASD group. Children with ASD consumed significantly higher amounts of simple sugars, processed and ultra-processed carbohydrates, both low- and high-fat animal proteins, and lower amounts of vegetables and fruits compared to peers with TD. The obesity rate was 1.5% in children with TD and more than fourfold (6.2%) in children with ASD, although the difference between groups was not statistically significant. FS was significantly more frequent in children with ASD than in peers with TD. Children with ASD and FS showed significantly lower annual intakes of vegetable proteins and fiber (considered essential nutrients for a healthy diet) than children with ASD without FS. Our results showed that children with ASD showed different dietary habits than those with TD, with the higher consumption of energy-dense foods and lower amounts of food-sourced fibers, which could place them at increased risk to develop overweight, obesity, and micronutrient deficiencies later in life.


2020 ◽  
Author(s):  
Alexandru-Ștefan Niculae

ABSTRACTAutism Spectrum Disorder (ASD) is a large set of neurodevelopmental disorders of complex aetiology. A mix of genetic and environmental factors are likely to cause ASD. Genetic risk for autism comes from common genetic variation.Genomic imprinting refers to genes that have different expression patterns according to the parent of origin – being silenced when imprinted. Paternally active genes increase resource extraction from the mother and reduce resource burden on the father.Children with ASD show consistent overgrowth during their first 1-2 years of life. Recently, it has been shown that children with higher birth weight and length have an increased risk of developing ASD. This overgrowth and apparent larger birth weight and length are consistent with the notion that a paternally biased genome might underlie the risk for ASD.The study compared height, weight, head circumference and thoracic circumference for age-matched (ages 4-8 years old) male children with ASD (n=30) with neurotypical children (n=33).No clinically significant differences were found among the two groups.After weaning, relative paternal contribution to a child’s somatic development would increase, thus one would expect paternally active genes to start changing the child’s behaviour, so as to make the child less demanding of resources (overall, and thus also on the father), with a counterweight represented by maternally active genes. A relative overabundance of paternally active genes would explain the data presented here, that shows children with ASD being no different from controls. Given the fact presented by other studies, that children with ASD seem to get a head start in growth, the lack of differences found in this 4-8 years old group indicates that children with ASD might actually fall behind in somatic growth, or at least stagnate by middle childhood.


2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Inmaculada Riquelme ◽  
Samar M. Hatem ◽  
Pedro Montoya

Children with autism spectrum disorders (ASD) often display an abnormal reactivity to tactile stimuli, altered pain perception, and lower motor skills than healthy children. Nevertheless, these motor and sensory deficits have been mostly assessed by using clinical observation and self-report questionnaires. The present study aims to explore somatosensory and motor function in children with ASD by using standardized and objective testing procedures.Methods. Tactile and pressure pain thresholds in hands and lips, stereognosis, proprioception, and fine motor performance of the upper limbs were assessed in high-functioning children with ASD(n=27)and compared with typically developing peers(n=30).  Results. Children with ASD showed increased pain sensitivity, increased touch sensitivity in C-tactile afferents innervated areas, and diminished fine motor performance and proprioception compared to healthy children. No group differences were observed for stereognosis.Conclusion. Increased pain sensitivity and increased touch sensitivity in areas classically related to affective touch (C-tactile afferents innervated areas) may explain typical avoiding behaviors associated with hypersensitivity. Both sensory and motor impairments should be assessed and treated in children with ASD.


Author(s):  
Hellström

Children with Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD) have shown an increased risk for violence and victimization. However, research on exposure to multiple forms of victimization in different contexts are scarce. Hence, the current aim is to review the evidence about polyvictimization among children with ASD or ADHD. PsycInfo, ERIC, ERC, Scopus, and PubMed databases were systematically searched until 12 March 2019 to identify empirical studies with reported prevalence rates of at least four forms of victimization among children with ASD or ADHD. A total of 6/1300 articles were included in the review, ranging in sample sizes from 92 to 4114. The reported prevalence rates for polyvictimization were 1.8% and 23.1% for children with ASD and 7.3% for children with ADHD. The results emphasize the high prevalence of violence and victimization, including polyvictimization, among children with ASD or ADHD. Polyvictimization among children with ASD or ADHD is a highly under researched area. Significant knowledge gaps and important methodological considerations that provide important implications for future research include lack of information on cyber bullying, frequency or intensity of victimization, and the failure to include children as informants and to report health outcomes associated with polyvictimization.


2021 ◽  
Vol 9 (12) ◽  
pp. 2558
Author(s):  
Olga V. Karnachuk ◽  
Olga P. Ikkert ◽  
Marat R. Avakyan ◽  
Yurii V. Knyazev ◽  
Mikhail N. Volochaev ◽  
...  

The sulphate-reducing bacteria (SRB) of genus Desulfovibrio are a group of prokaryotes associated with autism spectrum disorders (ASD). The connection between the elevated numbers of Desulfovibrio in the gut of children with ASD compared with healthy children remains unresolved. A conceivable consequence of SRB overgrowth in the gut is the conversion of bioavailable iron into low-soluble crystalline iron sulphides, causing iron deficiency in the organism. In this study, we report the draft genome sequence and physiological features of the first cultivable isolate from a patient with ASD, Desulfovibrio desulfuricans strain AY5.The capability of the strain to produce crystalline iron sulphides was studied under different pH conditions. The most notable greigite(Fe3S4) and pyrite (FeS2) formation was revealed at pH 6.0, which suggests that the iron loss due to insoluble sulphide formation may occur in the proximal part of the gastrointestinal tract. Strain AY5 was adapted to grow under nitrogen-limiting conditions by N2 fixation. The urease found in the strain’s genome may play a role in resistance to acidic pH.


2021 ◽  
Vol 52 (1) ◽  
pp. 165-180 ◽  
Author(s):  
Sally Clendon ◽  
Jessica Paynter ◽  
Sue Walker ◽  
Rachael Bowen ◽  
Marleen F. Westerveld

Purpose Children with autism spectrum disorder (ASD) are at increased risk of experiencing difficulties with the development of literacy, including the emergent literacy skills recognized to underpin conventional literacy success. Comprehensive assessment is essential. Characteristics of ASD can make assessment challenging, and this can be compounded when children are unable to demonstrate their skills using spoken language. The purpose of this clinical tutorial is to outline the process of emergent literacy assessment for children with ASD who have limited verbal communication skills. A case example of a 5-year-old boy is presented. Method Pertinent literature is reviewed around the literacy profiles of children with ASD, the subgroup of children with ASD who have limited verbal communication skills, key components of emergent literacy, and previous research examining the emergent literacy abilities of children with ASD. The case report is described in depth and emphasizes the key factors to consider when designing an assessment battery and protocol. Results The case example information is interpreted, and its application is discussed. Key outcomes are highlighted including a greater understanding of the child's literacy strengths and needs and the implications for individualized instruction. Conclusion The clinical tutorial highlights the need for a comprehensive, well-planned assessment approach that involves all members of the educational team, and that is considerate to the needs of the individual child and responsive to their communication needs.


2018 ◽  
Vol 17 (7) ◽  
pp. 489-495 ◽  
Author(s):  
Heidi Ormstad ◽  
Vesna Bryn ◽  
Ola Didrik Saugstad ◽  
Ola Skjeldal ◽  
Michael Maes

Background: The evidence based supports that multifactorial and complex immune interactions play a role in autism spectrum disorders (ASD), but contradictory findings are also reported. Objective: The aim of this selective review was to identify trends in the research literature on this topic, focusing on immunology and other aberrations with respect to the different ASD subtypes. Methods: This selective review is based on original and review articles written in English and identified in literature searches of PubMed. Results: Several studies have found that the risk of ASD is greater among children whose mothers suffered from autoimmune diseases while pregnant. Moreover, individuals with ASD show increased levels of antibodies that are specific for several specific proteins. Studies also show that mothers of children with ASD have antibodies against fetal brain proteins. There are also reports on the associations between increased levels of proinflammatory cytokines and ASD. Finally, infections in mothers during pregnancy are linked to an increased risk of ASD. Conclusion: We propose that the large inconsistencies in findings among studies in the field are due to differences in subdiagnoses among the included children with ASD. Well-phenotyped ASD samples are needed to understand the biological and immunological mechanisms underpinning ASD and its subdiagnoses. Future research should apply new strategies to scrutinize the link between ASD and changes in immune responsivity. Important new research avenues are to investigate the associations (a) between different ASD phenotypes and aberrations in (auto)immune pathways and (b) between reduced natural regulatory autoimmune responses during pregnancy, which are in turn associated with increased oxidative and nitrosative stress in maternal blood and putative detrimental effects in the offspring.


2020 ◽  
Author(s):  
Joseph Guan ◽  
Ashley Blanchard ◽  
Carolyn DiGuiseppi ◽  
Stanford Chihuri ◽  
Guohua Li

Abstract Background The reported prevalence of autism spectrum disorder (ASD) has increased markedly in the past two decades and children with autism are at increased risk of unintentional injury and self-inflicted injury. The risk of assaultive injury in children with autism, however, has not been well described. Our objective was to examine the characteristics of homicide incidents involving children with ASD as victims reported in US news media. Methods The Lexis Uni® database was searched to identify news media reports on homicide incidents involving autistic victims under 21 years of age in the United States from January 2000 through December 2019. Information related to the victim, perpetrator, and means of homicide in each incident was ascertained from news media reports and analyzed using descriptive statistics. Findings: During the 20-year period, US news media reported on 52 incidents (47 males and 5 females) in which a child with ASD died from homicide. Age of victims at death ranged from 2 to 20 years (mean = 10.4 ± 5.3 years). Parents, other caregivers, and siblings accounted respectively for 63.5%, 13.5%, and 7.7% of the perpetrators. The most commonly cited contributing factor (47.1%) was overwhelming stress from caring for the autistic child. Almost a quarter (23.1%) of the victims died from gunshot wounds, followed by drowning (19.2%), and suffocation, strangulation, or asphyxiation (19.2%). Conclusions Of cases reported in news media, homicide victims in children with ASD are predominantly male. Nearly 85% of the perpetrators were family members or other caregivers. Intervention programs for children with ASD should include social and mental health support for parents and other caregivers to prevent burnouts.


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.


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