Association between the rs1360780 polymorphism in FKBP5 gene and serum cortisol levels in children with autism spectrum disorder

Abstract The inconsistent results about cortisol levels in individuals with autism spectrum disorder (ASD) may be suggestive of other factors like gen polymorphisms rather than the disorder itself. So we aimed to investigate the rs1360780 polymorphism in FK506 binding protein 5 (FKBP5) gene and its relation to ASD and cortisol levels comparing with that of healthy participants. We have included two main groups as study and control groups in the present study. Eighty nine children with ASD ranging in age from 2 to 15 years were selected for the study group and age-matched 86 healthy children were selected for the control group. Cortisol levels were found to be significantly higher in the study group. However there was no statistically significant difference in terms of allele and genotype frequencies between the groups. Carrying the C allele of FKBP5 seems to increase the cortisol levels in the study group. This is the first clinical study to evaluate the association between rs1360780 polymorphism in FKBP5 gene and serum cortisol levels in children with ASD. Since the prevalence of ASD is gradually increasing in recent years, several endocrine and related genetic factors should be born in mind while examining this population.

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The urinary biopterin in autism spectrum disorder

Pteridines ◽

10.1515/pteridines-2020-0023 ◽

2021 ◽

Vol 32 (1) ◽

pp. 17-22

Author(s):

Aleksandra Waligóra ◽

Aleksandra Damasiewicz-Bodzek ◽

Piotr Gorczyca ◽

Sławomir Waligóra ◽

Krystyna Tyrpień-Golder

Keyword(s):

Autism Spectrum Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

The Other ◽

Urine Samples ◽

Control Group ◽

Healthy Children ◽

Healthy Individuals ◽

Children With Asd ◽

Significant Difference

Abstract Objective The aim of the study was to determine whether biopterin is present in significantly lower quantities in urine samples of patients with autism spectrum disorder (ASD) compared to healthy individuals. Methods The concentration of biopterin in urine samples was measured by ELISA using commercially available kit. The study involved 53 children aged 3–16 years with ASD and 60 healthy children aged 2–14 years. Results Significantly lower biopterin concentration was observed in autistic patients compared to the control group. However, no significant difference was observed between mild, moderate, and severe ASD. Conclusion One of the potential causes of decrease in urinary biopterin levels may be tetrahydrobiopterin (BH4) deficiency, which has extensive and serious health consequences for the nervous system. The results of measuring biopterin as a fully oxidized form of BH4 may suggest that biosynthesis or regeneration of BH4 may be decreased in children with ASD. On the other hand, decreased urinary biopterin levels in children with ASD may be due to BH4 overuse, a good regeneration process, and decreased urinary excretion; and abnormalities in BH4 metabolism appear to be related to the aetiology of ASD or may be due to ASD.

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VISUAL SUPPORT REDUCES ANXIETY IN AUTISM SPECTRUM DISORDER AND ENHANCE THEIR VISUAL PERCEPTUAL SKILLS

Pakistan Journal of Rehabilitation ◽

10.36283/pjr.zu.8.1/007 ◽

2019 ◽

Vol 8 (1) ◽

pp. 31-36

Author(s):

Ramsha Ghous ◽

Hina Naz

Keyword(s):

Autism Spectrum Disorder ◽

Occupational Therapy ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Control Group ◽

Children With Asd ◽

Significant Difference ◽

Anxiety Levels ◽

Therapy Sessions ◽

Experimental Group

BACKGROUND Children with Autism Spectrum Disorder (ASD) have difficulties with sensory processing that result in anxiety in certain situations. Aim of this study is to determine the efficacy of visual supports in reduction of anxiety levels and tolerance of transitions or switch over in children with ASD. STUDY DESIGN Randomized controlled trial METHODS With a sample size of 57, comparison was made between two groups i.e.; the experimental and the control group to see the efficacy of the visual inputs in reducing anxiety in children with ASD of age bracket 8-12 years old. Experimental group was given visual aids with occupational therapy sessions, while control group was only given conventional Occupational Therapy sessions. Pre and post analysis of visual perceptual ages and the anxiety levels of children were compared by anxiety scale for children-spectrum disorder and motor-free visual perception test. RESULT Significant increase in the visual perceptual ages with reduction in anxiety level was observed in experimental; no significant difference was found in control group. CONCLUSION Reduction in the anxiety levels was achieved after 4 weeks of intervention with improvement in the visual perceptual ages in the experimental group.

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Autism Spectrum Disorder: Correlation between aberrant behaviors, EEG abnormalities and seizures

Neurology International ◽

10.4081/ni.2010.e10 ◽

2010 ◽

Vol 2 (1) ◽

pp. 10 ◽

Cited By ~ 28

Author(s):

Michelle Elena Hartley-McAndrew ◽

Arie Weinstock

Keyword(s):

Autism Spectrum Disorder ◽

Rating Scale ◽

Epileptiform Activity ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Control Group ◽

Epileptiform Discharges ◽

Children With Asd ◽

Eeg Abnormalities ◽

Significant Difference

The relationship between epilepsy, epileptiform discharges, cognitive, language and behavioral symptoms is not clearly understood. Since difficulties with socialization and maladaptive behaviors are found in children with Autism Spectrum Disorder (ASD), we inquired whether epileptiform activity and seizures are associated with adverse behavioral manifestations in this population. We reviewed our EEG database between 1999-2006, and identified 123 children with ASD. EEG abnormalities were found in 39 children (31%). A control group of age and gender matched ASD children with normal EEG’s was obtained. Packets of questionnaires including the Vineland Adaptive Behavior Scale II (VABS), Aberrant Behavior Checklist (ABC) and the Childhood Autism Rating Scale (CARS) were sent by mail. Out of 21 packets received, 11 had normal and 10 had abnormal EEG’s. There were no statistically significant differences in behavior between the two groups. Statistical analysis of discharge location and frequency did not reveal a significant trend. However, children with ASD and seizures had statistically significant lower scores in VABS daily living (P=0.009) and socialization (P=0.007) as compared to those without seizures. ASD children with seizures had higher ABC levels of hyperactivity and irritability. Differences in irritability scores nearly reached statistical significance (P=0.058). There was no significant difference in the degree of CARS autism rating between the groups. Our study did not reveal statistically significant differences in behaviors between ASD children with and without EEG abnormalities. However, ASD children with seizures revealed significantly worse behaviors as compared to counterparts without seizures.

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Inclusion Strategies: A Trampoline Program For Children With Autism Spectrum Disorder

10.21203/rs.3.rs-798851/v1 ◽

2021 ◽

Author(s):

Carla Lourenço ◽

Dulce Esteves

Keyword(s):

Autism Spectrum Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Control Group ◽

Motor Proficiency ◽

Children With Asd ◽

Standing Long Jump ◽

Significant Difference ◽

Long Jump ◽

Experimental Group

Abstract Background: Autism Spectrum Disorder (ASD) is a neurological disorder that is characterized by deficits in social, communication, and motor function. Trampoline-based interventions reported to promote motor proficiency in children with ASD to foster the development of coordination, balance and muscle strengthen.Methods: This study examined the effects of two trampoline interventions on the motor skill proficiency, muscle strength of the lower limbs, and body mass index (BMI) of 25 children (aged 6.9 ± 2.3 years) with ASD. The 20-weeks intervention participants (n=6) are in the experimental group A, whereas the 32-week intervention participants (n=8) are in experimental group B. The control group consists of 11 participants who did not receive any intervention constituting.The Bruininks–Oseretsky Test of Motor Proficiency-2 (BOT-2), the Standing long jump, and BMI assessment were conducted three times for each participant at baseline (T1), middle time of the intervention (T2), and post-intervention (T3).Results: The findings suggest that children in both experimental groups exhibited significant improvements in BOT-2 and the standing long jump after the 20-weekand 32-week of trampoline-based physical activity intervention when compared to the children in the control group. No significant difference was found on BMI before and after the interventions in all three groups. Conclusion: The findings provide supporting evidence that a minimum 20-week trampoline training may be a viable therapeutic option for training children with ASD to improve their motor proficiency.

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Investigation of the Relation Between Epithelial Barrier Function and Autism Symptom Severity in Children with Autism Spectrum Disorder

10.21203/rs.3.rs-270289/v1 ◽

2021 ◽

Author(s):

Kevser Nalbant ◽

Semih Erden ◽

Abdullah Yazar ◽

İbrahim Kılınç

Keyword(s):

Autism Spectrum Disorder ◽

Barrier Function ◽

Rating Scale ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Enzyme Linked Immunosorbent Assay ◽

Epithelial Barrier ◽

Control Group ◽

Epithelial Barrier Function ◽

Children With Asd

Abstract Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by limitations in mutual communication and social interaction as well as restricted, repetitive patterns of behaviors, interests, or activities. A number of biological abnormalities have been reported in ASD. Therefore the possible role of biological abnormalities in etiopathogenesis arouses research interest in this area. This is a case-control design study evaluating epithelial barrier function by comparing serum concentrations of occludin and zonulin in children with ASD (n = 60) and controls (n = 30). The Childhood Autism Rating Scale (CARS) was used to evaluate autistic symptom levels of all children. Serum occludin and zonulin levels were analyzed using an enzyme-linked immunosorbent assay. Serum occludin was significantly lower in children with ASD than in control subjects. In children with ASD, a decrease in occludin level was significantly associated with the disorder symptom levels item mean score (CARS total scores). Our findings showed that children with ASD had alterations in epithelial barrier function compared to the control group. The investigation of the mechanism underlying the different levels of occludin between ASD and controls may be of importance in clarifying the etiopathogenesis of ASD, as well as its follow-up and treatment.

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Comparative Evaluation of Oral Health Status in Healthy Children and Children with Autism Spectrum Disorder

Journal of Pediatric Infectious Diseases ◽

10.1055/s-0040-1709659 ◽

2020 ◽

Vol 15 (05) ◽

pp. 223-227

Author(s):

Fatih Tulumbacı ◽

Emre Korkut ◽

Hazal Özer

Keyword(s):

Autism Spectrum Disorder ◽

Oral Health ◽

Streptococcus Mutans ◽

Clinical Signs ◽

Oral Health Status ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Healthy Children ◽

Significant Difference ◽

The Status

Abstract Objective Autism spectrum disorder (ASD) is regarded a severe neuropsychiatric disorder. The objective of this study was to compare the status of the oral health between children with and without ASDs. Methods A total of 95 children (44 with ASD and 51 without ASD) were included. dmft/DMFT (d/D: decay; m/M: missing; f/F: filling; t/T: teeth) scores and plaque data of all participants were recorded. Saliva Streptococcus mutans and lactobacilli load were determined using CRT bacteria. Results Streptococcus mutans load was >105 CFU in 54.5% of the ASD group and 43.1% in the non-ASD group. Lactobacilli load was >105 CFU in 47.70% of the ASD group and 49.0% in the non-ASD group. There was no statistically significant difference in the S. mutans or lactobacilli loads between the ASD and non-ASD groups. A total of 83.1% of the ASD group had caries, with dmft = 3.25 and DMFT = 5.10. In the non-ASD group, 81.10% of patients had caries, with dmft = 3.10 and DMFT = 4.90; 38.6% of the ASD group and 29.4% of the non-ASD group had no clinical signs of periodontal disease. Conclusion The examination of the amount of saliva S. mutans and lactobacilli at intervals with these patients will provide quantitative data to evaluate the effectiveness of oral health care.

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Print Knowledge in Children With Autism Spectrum Disorder: Do Child and Family Variables Play a Role?

Language Speech and Hearing Services in Schools ◽

10.1044/2020_lshss-20-00025 ◽

2021 ◽

Vol 52 (1) ◽

pp. 197-208 ◽

Cited By ~ 1

Author(s):

Jaclyn M. Dynia ◽

Emily J. Solari

Keyword(s):

Autism Spectrum Disorder ◽

Children With Autism ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Letter Identification ◽

Full Sample ◽

Print Knowledge ◽

Children With Asd ◽

Significant Difference ◽

Name Writing

Purpose This study aimed to examine the print knowledge of children with autism spectrum disorder (ASD) in comparison to children who have developmental language disorder (DLD) and typically developing (TD) children as well as examine the child and family predictors of print knowledge. Method A total of 629 preschool children, including 33 children with ASD, 93 children with DLD, and 503 TD children, were the focus of the current study. Teachers completed direct assessments with the children in the fall and spring of the academic year on print knowledge using the Phonological Awareness Literacy Screener. Results Analyses of covariance were used to compare the print knowledge skills (uppercase and lowercase letter identification, print and word awareness, name writing) in the fall and spring for each of the three groups. The groups were significantly different for the Print and Word Awareness and Name Writing subtests in both the fall and spring. A Tukey's honestly significant difference further indicated that, for these subtests, the children with ASD had significantly lower scores than both the children with DLD and TD children. When examining the child and family predictors of residualized gain in print knowledge for the children with ASD, the only significant predictor for any outcome was fall scores. When examining the predictors for the full sample, fall scores, age, ASD status, and mothers' education level were significant predictors of print and word awareness and name writing scores. Conclusions None of the child and family characteristics seemed to be related to residualized gain in print knowledge for children with ASD. However, when examining predictors of residualized gain in print knowledge for the full sample, ASD status was related to lower scores for both print and word awareness and name writing.

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Autism spectrum disorder is associated with gut microbiota disorder in children

BMC Pediatrics ◽

10.1186/s12887-019-1896-6 ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 3

Author(s):

Hairong Sun ◽

Zhong You ◽

Libo Jia ◽

Fang Wang

Keyword(s):

Autism Spectrum Disorder ◽

Gut Microbiota ◽

Stable State ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Control Group ◽

Healthy Children ◽

16S Sequencing ◽

Healthy Control ◽

The Difference

Abstract Background The aim of this study was to evaluate the occurrence and clinical characteristics of autism spectrum disorder (ASD) associated to the stable state of the gut microbiota. Methods A total of 9 children with ASD and 6 healthy children used as control were selected and feces samples were collected from all of them. The 16S gene ribosomal RNA sequencing was used to analyze the difference in gut microbiota between healthy control children and ASD patients. Results The results of 16S sequencing based on operational taxonomic units (OTUs) analysis showed that the ASD group and the healthy control (HC) group had a large difference in the abundance of microbiota at the level of family, genus and species. The abundance of Bacteroidales and Selenomonadales was significantly lower in the ASD group than in the HC group (p = 0.0110 and p = 0.0076, respectively). The abundance of Ruminococcaceae in the ASD group was higher than that in the HC group (p = 0.0285), while the amount of Prevotellaceae was significantly lower in the ASD group than in the HC group (p = 0.0111). The Tax4Fun analysis based on Kyoto Encyclopaedia of Genes and Genomes (KEGG) data indicated differentially expressed functional pathway between the ASD group and healthy control group associated to the nervous system, environmental information processing and cellular processing. Conclusions The abundance of gut microbiota in the ASD group is different from that in the healthy control children. These differences affect the biological function of the host. These results suggest that a disorder in the gut microbiota may be associated, at least in part, with ASD in children.

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Characterizing Olfactory Function in Children with Autism Spectrum Disorder and Children with Sensory Processing Dysfunction

Brain Sciences ◽

10.3390/brainsci10060362 ◽

2020 ◽

Vol 10 (6) ◽

pp. 362 ◽

Cited By ~ 1

Author(s):

Julia R. Sweigert ◽

Tanya St. John ◽

Kristin Kawena Begay ◽

Greg E. Davis ◽

Jeffrey Munson ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Sensory Processing ◽

Autism Spectrum ◽

Olfactory Function ◽

Spectrum Disorder ◽

Odor Identification ◽

Control Group ◽

Autism Symptoms ◽

Odor Detection ◽

Children With Asd

Abnormalities in olfactory function have been identified in a number of neurological and psychiatric disorders, including Parkinson’s disease and schizophrenia. However, little is known about olfactory function in autism spectrum disorder (ASD). The present study aims to assess the olfactory profiles of children with ASD, compared to an age- and sex-matched comparison group of typically developing children and a second clinical control group consisting of non-ASD children with sensory processing dysfunction (SPD). Participants completed a battery of sensory and behavioral assessments including olfactory tasks (Sniffin’ Sticks Threshold Test and self-reported valence ratings for two target odorants (phenylethyl alcohol and vanillin) and the University of Pennsylvania Smell Identification Test), and an autism evaluation (Autism Diagnostic Observation Schedule-2). Children with ASD showed intact odor detection with reduced odor identification ability. Poor odor identification was significantly correlated with autism symptom severity. Children with SPD demonstrated reduced odor detection and identification ability. These findings provide evidence for differential patterns of smell processing among ASD and non-ASD neurodevelopmental disorders. Future studies are needed to determine whether the association of impaired olfaction and increased autism symptoms is due to shared etiology.

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Impact of MicroRNAs in Interaction With Environmental Factors on Autism Spectrum Disorder: An Exploratory Pilot Study

Frontiers in Psychiatry ◽

10.3389/fpsyt.2021.715481 ◽

2021 ◽

Vol 12 ◽

Author(s):

LiHua Cui ◽

WenRan Du ◽

Ning Xu ◽

JingYi Dong ◽

BingJie Xia ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Environmental Factors ◽

Neonatal Jaundice ◽

Maternal Stress ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Control Group ◽

Psychiatric History ◽

Healthy Children ◽

Threatened Abortion

Background: This study aimed to explore the main effects of environmental risk factors as well as their interaction effects with miRNA on the risk of autism spectrum disorder (ASD).Methods: One hundred fifty-nine ASD children (ASD group) and 159 healthy children (control group), aged 2–6 years, were included in this study. ASD diagnoses were based on DSM-5 criteria. The extensive medical and demographic characterization of the two groups were recorded. MicroRNAs (miRNAs) in serum were detected by qRT-PCR.Results: Compared with the control group, the ASD group had significantly higher rates of maternal stress during pregnancy (p < 0.001), maternal drinking during pregnancy (p = 0.006), threatened abortion (p = 0.011), pregnancy-induced hypertension (p = 0.032), gestational diabetes (p = 0.039), maternal anemia during pregnancy (p < 0.001), umbilical cord knot (p < 0.001), neonatal jaundice (p < 0.001), family psychiatric history (p = 0.001), and much lower birth weight (p = 0.012). Furthermore, the ASD group had much lower expression levels of hsa-miR-181b-5p (p < 0.001) and hsa-miR-320a (p < 0.001) and significantly higher levels of hsa-miR-19b-3p (p < 0.001). The interactions of hsa-miR-320a and maternal stress during pregnancy (OR = 39.42, p < 0.001), hsa-miR-19b-3p and neonatal jaundice (OR = 2.44, p < 0.001), and hsa-miR-181b-5p and family psychiatric history (OR = 8.65, p = 0.001) could increase ASD risk.Conclusions: The dysregulation of hsa-miR-181b-5p, hsa-miR-320a, and hsa-miR-19b-3p could interact with environmental factors, such as maternal stress during pregnancy, neonatal jaundice, and family psychiatric history, to impact the risk of ASD.

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