scholarly journals Efficacy of rituximab in autism spectrum disorders associated with hereditary folate malabsorption with signs of antineuronal autoimmunity

2021 ◽  
Vol 17 (5) ◽  
pp. 10-17
Author(s):  
D.V. Maltsev
Keyword(s):  
Potassium Channels ◽  
Elevated Serum ◽  
Clinical Signs ◽  
Autism Spectrum ◽  
Control Group ◽  
Similar Distribution ◽  
Autoimmune Reaction ◽  
Neuroprotective Therapy ◽  
Spectrum Disorders ◽  
Abc Scale

Background. One of the key advances in psychiatry is an elucidation of the association of hereditary folate malabsorption (HFM) with autistic spectrum disorders (ASD), the evidence for which is based on the results of 5 meta-analyses of randomized controlled trials. It is shown that in such cases the antineuronal autoimmune reaction is an important mechanism of encephalopathy formation. The purpose of the study was to investigate the efficacy of rituximab in children with HFM-associated ASD who showed serological signs of antineuronal autoimmunity to expand the current arsenal of neuroprotective therapy in immunodependent encephalopathy in such cases. Materials and methods. Medical data of 138 children aged 3 to 8 years with HFM and ASD (97 boys and 41 girls) were analyzed. Parents of 62 of 81 patients with signs of antineuronal autoimmunity agreed to rituximab immunotherapy at a dose of 375 mg/m2 of body surface area per month for 3–9 months (study group, SG). Relatives of the other 19 patients with a similar distribution of antineuronal autoantibodies refused treatment (control group, CG). The dynamics of the mental state of children during immunotherapy was assessed by the ABC scale. For statistical analysis, we calculated the parametric Student’s t-test with the confidence probability p and the non-parametric criterion — the number of signs Z by U.V. Urbach, as well as the odds ratio (OR) and 95% confidence interval (95% CI). Results. Rituximab treatment resulted in a progressive decrease in serum antineuronal autoantibodies concentration in patients with ASD associated with HFM, with a more pronounced effect in the production of autoantibodies to neuronal potassium channels compared to autoantibodies to the GADA with complete elimination of the seropositivity after a 9-month course of immunotherapy in 92 % of cases. The phenomenon of rituximab-induced elimination of serum antineuronal autoantibodies is associated with the effect of neuroprotection, which was confirmed by the normalization of previously elevated serum concentrations of laboratory biomarkers of NSE cerebral damage (OR = 17.875; 95% CI = 4.738–67.436 at Ab to GADA and 41.800; 7.257–240.778 at Ab to potassium channels) and S-100 protein (9.750; 2.707–35.113 and 18.333; 3.462–97.083, respectively). In parallel, there was a progressive improvement in all indicators of the mental status of children with ASD on the ABC scale with a latency period of about 2 months (p < 0.05: Z < Z0.05). Conclusions. Immunotherapy with rituximab by eliminating the serological signs of antineuronal autoimmunity realizes the effect of neuroprotection, reducing the severity of all major clinical signs of ASD in children with HFM.

scholarly journals Paternal and maternal age at pregnancy and autism spectrum disorders in offspring

2016 ◽  
Vol 55 (6) ◽  
pp. 345 ◽  
Author(s):  
Luh Putu Rihayani Budi ◽  
Mei Neni Sitaresmi ◽  
I Gusti Ayu Trisna Windiani
Keyword(s):  
Autism Spectrum Disorders ◽  
Maternal Age ◽  
Multivariable Analysis ◽  
Autism Spectrum ◽  
Paternal Age ◽  
Control Group ◽  
Smoking During Pregnancy ◽  
Past Half Century ◽  
Spectrum Disorders ◽  
Paternal Smoking

Background The prevalence of autism spectrum disorders(ASDs) has increased 10 times over the past half century,while paternal and maternal age at pregnancy has alsoincreased. Studies looking for an association between paternalor maternal age at pregnancy and ASDs in offspring have notbeen conclusive.Objective To assess for possible associations between paternaland maternal age at pregnancy and ASDs in offspring.Methods This case-control study had 50 case and 100control subjects, each case was matched for age and genderto two controls. Case subjects were obtained by consecutivesampling of patients aged 18 months to 7 years who visited theDevelopmental Behavioral & Community Pediatrics OutpatientClinic and private growth and development centers from Januaryto April 2013, while control group were children of the sameage range and same gender who visited pediatric outpatientclinic at Sanglah Hospital mostly due to acute respiratory tractinfection, without ASDs as assessed by the DSM-IV-TR criteria.We interviewed parents to collect the following data: maternaland paternal age at pregnancy, child’s birth weight, historyof asphyxia, hospital admission during the neonatal period,pathological labor, maternal smoking during pregnancy, paternalsmoking, and gestational age. Data analysis was performed withChi-square and Fisher’s exact tests.Results Multivariable analysis showed that higher paternal ageat pregnancy was associated with ASDs in offspring (OR 6.3;95%CI 2.0 to 19.3; P 0.001). However, there was no significantassociation between maternal age during pregnancy and theincidence of ASDs. Asphyxia and paternal smoking were alsoassociated with higher incidence of ASDs in the offspring (OR10.3; 95%CI 1.9 to 56.5; P 0.007 and OR 3.2; 95%CI 1.5 to 6.9;P 0.003, respectively).Conclusion􀀃􀀳􀁄􀁗􀁈􀁕􀁑􀁄􀁏􀀃􀁄􀁊􀁈􀀃􀂕􀀗􀀓􀀃􀁜􀁈􀁄􀁕􀁖􀀃􀁌􀁑􀁆􀁕􀁈􀁄􀁖􀁈􀁇􀀃􀁗􀁋􀁈􀀃􀁕􀁌􀁖􀁎􀀃􀁒􀁉􀀃􀀤􀀶'􀁖􀀃in offspring by 6.3 times. In addition, paternal smoking increased the risk of ASDs in offspring by 3.2 times and asphyxia increasedthe risk of ASDs in offspring by 10.3 times.

scholarly journals Improvement of sleep patterns and serum melatonin levels in children with autism spectrum disorders after consumption of beta-1,3/1,6-glucan in a pilot clinical study

2021 ◽  
Author(s):  
Kadalraja Raghavan ◽  
Vidyasagar Devaprasad Dedeepiya ◽  
Ramesh Shankar Kandaswamy ◽  
Mangaleswaran Balamurugan ◽  
Nobunao Ikewaki ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Sleep Quality ◽  
Conventional Therapy ◽  
Autism Spectrum ◽  
Sleep Pattern ◽  
Control Group ◽  
Melatonin Level ◽  
Poor Sleep ◽  
Sleep Patterns ◽  
Spectrum Disorders

Abstract Study objectives: Poor sleep quality is a major problem that patients with autism spectrum disorders (ASD) face, which is attributed to their low melatonin levels. Melatonin supplementation is recommended, but its effectiveness is varied. Beta-glucans have previously been reported to improve melatonin levels in animal studies. Therefore, we examined the effectiveness of Aureobasidium pullulans (Nichi Glucan), a species of black yeast that contains beta-1,3/1,6-glucan, in a pilot study of children with ASD. Methods Thirteen children (age = 2.5 to 13 years) with ASD were recruited into the study. The control group consisted of four patients (Gr. 1), while nine patients were in the treatment group (Gr. 2). Gr. 2 received 1 g of Nichi Glucan along with conventional therapy, whereas Gr. 1 underwent conventional therapy alone for 90 days. The serum melatonin levels and sleep patterns, assessed using a subjective questionnaire, were evaluated before and after treatment. Results In Gr. 2, the average serum melatonin level increased from 238.85 ng/dl pre-intervention to 394.72 ng/dl post-intervention. Eight out of nine subjects (88%) in Gr. 2 group showed and improvement in their sleep pattern and quality, while this improvement was not observed in the control group. Conclusions Our study is the first in the literature to report that consumption of Nichi Glucan for 90 days showed visible improvement in sleep quality, sleep pattern, and serum melatonin levels. A larger multicentre study is warranted to validate our findings.

scholarly journals Mini-Basketball Training Program Improves Physical Fitness and Social Communication in Preschool Children with Autism Spectrum Disorders

2020 ◽  
Vol 73 (1) ◽  
pp. 267-278 ◽  
Author(s):  
Ke-Long Cai ◽  
Jin-Gui Wang ◽  
Zhi-Mei Liu ◽  
Li-Na Zhu ◽  
Xuan Xiong ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Preschool Children ◽  
Physical Fitness ◽  
Training Program ◽  
Social Communication ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Control Group ◽  
Physical Fitness Test ◽  
Spectrum Disorders

AbstractThis investigation examined the effects of a 12-week mini-basketball training program (MBTP) on physical fitness and social communication in preschool children with autism spectrum disorders (ASD). The study applied a quasi-experimental design. Fifty-nine preschool children aged 3-6 years with ASD were assigned to either a MBTP group (n = 30) or a control group (n = 29). Participants in the MBTP group received a scheduled mini-basketball training program (5 sessions per week, forty minutes per session) for twelve consecutive weeks, while the control group was instructed to maintain their daily activities. The physical fitness test and the parent-reported Social Responsiveness Scale Second Edition (SRS-2) test were performed before and after the intervention. Results indicated that the 12-week MBTP facilitated performance in the physical fitness test, particularly in speed-agility and muscular strength abilities. Additionally, children in the MBTP group demonstrated improvement in SRS-2 performance in social awareness, social cognition, social communication, and autistic mannerisms, whereas no such changes were found in the control group. It may be concluded that the 12-week MBTP could improve physical fitness and social communication in preschool children with ASD, and thus the use of physical exercise intervention as a therapeutic tool for preschoolers with ASD is recommended.

scholarly journals Prevalence and Clinical Features of Celiac Disease in a Cohort of Italian Children with Autism Spectrum Disorders

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 3046
Author(s):  
Margherita Prosperi ◽  
Elisa Santocchi ◽  
Elena Brunori ◽  
Angela Cosenza ◽  
Raffaella Tancredi ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Celiac Disease ◽  
Tertiary Care ◽  
Autism Spectrum ◽  
University Hospital ◽  
Control Group ◽  
Italian Population ◽  
Immune System Dysfunction ◽  
Children With Asd ◽  
Spectrum Disorders

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.

The relationship between 2D:4D ratio and systemizing and empathy quotients in parents of people with autism spectrum disorders

2011 ◽  
Vol 26 (S2) ◽  
pp. 1750-1750 ◽  
Author(s):  
Á. Romero-Martínez ◽  
P. Sariñana-González ◽  
J.M. Roa Natividad ◽  
M.V. Sanchis-Calatayud ◽  
S. De Andrés-García ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Control Group ◽  
Regression Analyses ◽  
Psychological Variables ◽  
Left Hand ◽  
The Mean ◽  
Spectrum Disorders ◽  
The Relationship ◽  
Psychological Dimensions

IntroductionInterdigital 2D:4D ratio has been considered as an indicator of prenatal exposure to androgens, entailing then a smaller ratio more androgenisation. Although it has been related to systemizing and empathy dimensions in the general population, it has never been studied in parents of people with Autism Spectrum Disorders (ASDs).Objectives and aimsTo analyse the relationship between the 2D:4D ratio and these psychological variables in this population.MethodsThe sample was composed by parents of both genders of people with (n = 46) or without (n = 42) ASDs. The ratio was calculated as the mean of 3 measurements of each hand evaluated by 3 different researchers. Psychological dimensions were evaluated by means of the Systemizing and Empathy Quotients (SQ and EQ, respectively).ResultsParents of ASDs persons showed lower scores in the EQ than controls, being these differences replicated only in men. No differences between groups for the 2D:4D ratio were found. Nevertheless, regression analyses indicated that in parents of ASDs a higher 2D:4D left ratio predicted a higher EQ. This result was also observed in men but not in women. In any case, the model was not significant in the control group.ConclusionsParents of ASDs persons showed lower EQ than controls, being this quotient predicted by the left 2D:4D ratio only in the former. When analysing in each gender, these results are only obtained in men. Among other parameters, the D2:D4 ratio (especially the left hand one) could be considered a valid indicator of the ASDs parent's idiosyncrasy.

scholarly journals Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 950
Author(s):  
Gabriele Trimarchi ◽  
Stefano Giuseppe Caraffi ◽  
Francesca Clementina Radio ◽  
Sabina Barresi ◽  
Gianluca Contrò ◽  
...  
Keyword(s):  
De Novo ◽  
Clinical Signs ◽  
Autism Spectrum ◽  
Chromosome 1 ◽  
Clinical Feature ◽  
Feeding Difficulties ◽  
Brain Malformations ◽  
Peripheral Polyneuropathy ◽  
Spectrum Disorders ◽  
Sleep Difficulties

One of the recently described syndromes emerging from the massive study of cohorts of undiagnosed patients with autism spectrum disorders (ASD) and syndromic intellectual disability (ID) is White–Sutton syndrome (WHSUS) (MIM #616364), caused by variants in the POGZ gene (MIM *614787), located on the long arm of chromosome 1 (1q21.3). So far, more than 50 individuals have been reported worldwide, although phenotypic features and natural history have not been exhaustively characterized yet. The phenotypic spectrum of the WHSUS is broad and includes moderate to severe ID, microcephaly, variable cerebral malformations, short stature, brachydactyly, visual abnormalities, sensorineural hearing loss, hypotonia, sleep difficulties, autistic features, self-injurious behaviour, feeding difficulties, gastroesophageal reflux, and other less frequent features. Here, we report the case of a girl with microcephaly, brain malformations, developmental delay (DD), peripheral polyneuropathy, and adducted thumb—a remarkable clinical feature in the first years of life—and heterozygous for a previously unreported, de novo splicing variant in POGZ. This report contributes to strengthen and expand the knowledge of the clinical spectrum of WHSUS, pointing out the importance of less frequent clinical signs as diagnostic handles in suspecting this condition.

scholarly journals Improving Emotion Regulation with CBT in Young Children with High Functioning Autism Spectrum Disorders: A Pilot Study

2011 ◽  
Vol 39 (4) ◽  
pp. 495-500 ◽  
Author(s):  
Angela Scarpa ◽  
Nuri M. Reyes
Keyword(s):  
Emotion Regulation ◽  
Autism Spectrum Disorders ◽  
Pilot Study ◽  
Young Children ◽  
High Functioning Autism ◽  
Autism Spectrum ◽  
Control Group ◽  
High Functioning ◽  
Delayed Treatment ◽  
Spectrum Disorders

Background and Aims: This pilot study tested the efficacy of a developmentally modified CBT for young children with Autism Spectrum Disorders (ASD) to teach emotion regulation strategies for reducing anger and anxiety, commonly noted problems in this population. Method: Eleven 5–7 year-old children participated in a CBT-group while parents participated in psychoeducation. Children were randomly assigned to an experimental or delayed-treatment control group. Results: From pre- to post-treatment, all children had less parent reported negativity/lability, better parent reported emotion regulation, and shorter outbursts, and also generated more coping strategies in response to vignettes. Parents also reported increases in their own confidence and their child's ability to deal with anger and anxiety. Conclusions: This study suggests that young children with high functioning ASD may benefit from CBT to improve regulation of anger and anxiety, and parent training may improve parental self-efficacy. Future studies are needed to make conclusions about its efficacy.

scholarly journals Emotion regulation and internalizing symptoms in children with autism spectrum disorders

Autism ◽  
2011 ◽  
Vol 15 (6) ◽  
pp. 655-670 ◽  
Author(s):  
Carolien Rieffe ◽  
Paul Oosterveld ◽  
Mark Meerum Terwogt ◽  
Saskia Mootz ◽  
Edwin van Leeuwen ◽  
...  
Keyword(s):  
Emotion Regulation ◽  
Internalizing Symptoms ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Control Group ◽  
Unique Contribution ◽  
Symptoms Of Depression ◽  
Emotion Experience ◽  
Spectrum Disorders ◽  
And Coping

The aim of this study was to examine the unique contribution of two aspects of emotion regulation (awareness and coping) to the development of internalizing problems in 11-year-old high-functioning children with an autism spectrum disorder (HFASD) and a control group, and the moderating effect of group membership on this. The results revealed overlap between the two groups, but also significant differences, suggesting a more fragmented emotion regulation pattern in children with HFASD, especially related to worry and rumination. Moreover, in children with HFASD, symptoms of depression were unrelated to positive mental coping strategies and the conviction that the emotion experience helps in dealing with the problem, suggesting that a positive approach to the problem and its subsequent emotion experience are less effective in the HFASD group.

scholarly journals PREVALENCE AND COMORBIDITIES OF AUTISM SPECTRUM DISORDERS IN REPUBLIC OF GEORGIA

2021 ◽  
Author(s):  
Medea Zirakashvili ◽  
Tamar Mikiashvili ◽  
Nana Mebonia ◽  
Maia Gabunia
Keyword(s):  
Neurodevelopmental Disorder ◽  
Diagnostic Procedures ◽  
Target Population ◽  
Autism Spectrum ◽  
Diagnostic Assessment ◽  
Control Group ◽  
Republic Of Georgia ◽  
Middle Income ◽  
Middle Income Countries ◽  
Spectrum Disorders

Introduction Autism spectrum disorder (ASD), complex neurodevelopmental condition with lifelong impacts, typically identified in early childhood. Despite the fact that 95% of all <5 years of age with developmental disabilities including ASD live in low- and middle-income countries, the prevalence of ASD in many these countries is unknown. Objectives and goals The study aimed to identify the prevalence and clinical characteristics of ASD and its comorbidities among 8-10 y old schoolchildren in Republic of Georgia. Material and Methods The study conducted in four steps: screening, sampling, diagnostic assessment, and quality control of best-estimate diagnosis with target population of 3rd grade students of five main cities (Tbilisi, Kutaisi, Batumi, Zugdidi, Telavi) of Georgia (N=22,553). To determine children at risk for ASD the Autism Spectrum Screening Questionnaire (ASSQ) was used completed by parents and teachers. Parents of children who screened positive were offered comprehensive assessment using standardized diagnostic procedures. Results and Conclusions 16654 (response rate 74%) parents were agreed to participate in the screening stage. Cut-off scores for 99-95 percentiles (top 1-5%) was defined. For the 1168 sampled screen-positive students 704 (60.3%) consented to participate in the diagnostic assessment, and 215 among them (30.5%) completed full assessment. The control group of 23 children (from non in top 10%) were fully assessed for ASD. The prevalence of ASD was estimated to be 1.34% (95%CI=2.15-4.41). From ASD group 77.5% of cases were undiagnosed to have any neurodevelopmental disorder. Comorbidity of Intellectual disability was in 22.5% of children with ASD (IQ<70), and 31% have IQ>111. The study defined need for the use of broader screening in primary healthcare and school settings to identify children with special needs and ensure their adequate services.

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