Neuroradiological signs of encephalopathy in children with autism spectrum disorders associated with genetic folate deficiency

2021 ◽  
Author(s):  
D. V. Maltsev
Keyword(s):  
Nervous System ◽  
Autism Spectrum Disorders ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Autism Spectrum ◽  
Neuroimaging Data ◽  
International Statistical Classification ◽  
Immunosuppressed Patients ◽  
Spectrum Disorders ◽  
Folate Cycle

The results of five meta‑analyzes indicate the association of autism spectrum disorders (ASD) with genetic deficiency of the folate cycle (GDFC) in children. In such cases, specific encephalopathy is formed with predominant immune‑dependent pathways of pathogenesis, the radiological signs of which are insufficiently studied. Objective —— to describe the typical neuroimaging signs of encephalopathy in children with GDFC suffering from ASD, and to find correlations between clinical signs, mechanisms of nervous system damage and neuroimaging data to optimize the algorithm of diagnosis, monitoring and treatment. Methods and subjects. The retrospective analysis of medical data of 225 children aged 2 to 9 years with GDFC, in which there were clinical manifestations of ASD (183 boys and 42 girls). The diagnosis of ASD was made by child psychiatrists according to the criteria of DSM‑IV‑TR (Diagnostic and Statistical Manual of mental disorders) and ICD‑10 (The International Statistical Classification of Diseases and Related Health Problems). Pathogenic polymorphic variants of folate cycle genes were determined by PCR with restriction. Neuroimaging was performed by MRI of the brain in conventional modes (T1‑ and T2‑weighted, FLAIR) on tomographs with a magnetic induction of 1.5 T. To study the associations between the indicators, the odds ratio (OR) and the 95 % confidence interval (95 % SI) were used. Results. There are 5 main groups of neuroimaging signs characteristic of leukoencephalopathy, temporal mesial sclerosis, PANS/PITANDS/PANDAS, congenital CMV neuroinfection and postnatal encephalitis, mild congenital CNS abnormalities. Neuroimaging signs are closely associated with the results of special laboratory tests that characterize the known immune‑dependent mechanisms of CNS damage, and with the emergence of relevant clinical syndromes, consistent with modern concepts of major infectious or autoimmune lesions of the nervous system in immunosuppressed patients. Laboratory‑radiological‑clinical complexes (virus‑induced temporal mesial sclerosis, autoimmune limbic encephalitis, autoimmune subcortical encephalitis, autoimmune or virus‑induced demyelinating lesions of the cerebral hemispheres and mild congenital malformations) have been identified. Conclusions. Encephalopathy in children with ASD associated with GDFC has a complex pathogenesis and is the result of combining a number of immune‑dependent forms of CNS damage in different ways in different patients, leading to a heterogeneous clinic‑radiological phenotype.  

scholarly journals EFFICACY OF COMBINED IMMUNOTHERAPY WITH PROPES AND INFLAMAFERTIN IN SELECTIVE DEFICIENCY OF NK AND NKT CELLS IN CHILDREN WITH AUTISM SPECTRUM DISORDERS ASSOCIATED WITH GENETIC DEFICIENCY OF THE FOLATE CYCLE

2021 ◽  
Vol 20 (2) ◽  
pp. 211-216
Author(s):  
Dmitry Maltsev ◽  
◽  
Volodymyr Stefanyshyn ◽  
Keyword(s):  
Autism Spectrum Disorders ◽  
Children With Autism ◽  
Nkt Cells ◽  
Autism Spectrum ◽  
Combination Immunotherapy ◽  
Nkt Cell ◽  
Genetic Deficiency ◽  
Spectrum Disorders ◽  
Folate Cycle ◽  
Combined Immunotherapy

Objectives. The results of previous small clinical trials indicate the potential benefit of combination immunotherapy with Propes and Inflamafertin to compensate for NK and NKT cell deficiency due to genetic deficiency of the folate cycle in children with autism spectrum disorders. The purpose of the research was to study the effectiveness of combined immunotherapy with Propes and Inflamafertin in NK and NKT cell deficiency in children with autism spectrum disorders associated with genetic deficiency of the folate cycle. Material and methods. This single-center, prospective, controlled, nonrandomized clinical trial included 96 children aged 2 to 10 years with autism spectrum disorders associated with a genetic folate deficiency (study group, SG). Children of SG received Propes at a dose of 2 ml IM every other day for 3 consecutive months (45 injections), and Inflamafertin at a dose of 2 ml IM every other day for 3 months in a row, alternating with Propes (45 injections). The control group (CG) consisted of 32 children of similar age and gender distribution who suffered from autism spectrum disorders associated with genetic deficiency of the folate cycle, but who did not receive immunotherapy. Outcomes. The number of NK cells reached the lower limit of normal in 39 out of 53 patients (74% of cases), with the resulting deficiency of these lymphocytes, and the average number of NK cells in the blood in SG almost doubling during the 3-month course of immunotherapy (р ˂ 0.05; Z ˂ Z0.05). However, it returned to almost initial level in the 2 months following the discontinuation of immunotherapeutic agents (р˃0.05; Z˃Z0.05). The number of NKT cells was normalized in 78 out of 87 patients (89% of cases) with an initial deficiency of these cells, and the average number of NKT cells in the blood in the DG increased during the course of immunotherapy by half (р ˂ 0.05; Z ˂ Z0.05) and continued to grow for the next 2 months after the discontinuation of immunotropic drugs (р ˂ 0.05; Z ˂ Z0.05). There was a link between immunotherapy and normalization of NK - (χ2 = 18.016; OR = 13.929; 95%CI = 3.498-55.468) and NKT-cells (χ2 = 60.65; OR = 46.800; 95%CI = 14.415-151.937) in the blood with a strong association between these processes (criterion φ = 0.504 and 0.715 respectively; С = 0.450 and 0.581 respectively). Conclusions. Combination immunotherapy with Propes and Inflamafertin is an effective strategy for the treatment of immunodeficiency caused by genetic deficiency of the folate cycle in children with autism spectrum disorders.

scholarly journals Features of dental care for children with autism spectrum disorders

2020 ◽  
pp. 19-24
Author(s):  
D. E. Suetenkov ◽  
I. V. Firsova ◽  
L. V. Sayutina ◽  
L. N. Kazakova ◽  
E. V. Naryzhnaya ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Dental Care ◽  
Clinical Manifestations ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Dental Care For Children ◽  
Maxillofacial Region ◽  
Functional Changes ◽  
Spectrum Disorders ◽  
Dental Appointment

A review of national and international publications on autism spectrum disorders (ASD). Problems of etiology and clinical manifestations of ASD are considered including morphological and functional changes in maxillofacial region affected by it. The review describes in detail problems that children with this pathology and their parents face when searching and visiting a dentist. Particular attention is paid to the preparation for the dental appointment of such children, as well as recommendations are described for dentists who treat children suffering from ASD.

scholarly journals Dynamics of age-related structural and functional changes in the brain of patients with autism spectrum disorders

2019 ◽  
Vol 19 (3) ◽  
pp. 21-26
Author(s):  
Svetlana G. Belokoskova ◽  
Emma M. Malsagova ◽  
Sergey G. Tsikunov
Keyword(s):  
Autism Spectrum Disorders ◽  
Individual Differences ◽  
Functional State ◽  
Clinical Manifestations ◽  
Autism Spectrum ◽  
Functional Changes ◽  
Age Related ◽  
Modern Information ◽  
Spectrum Disorders ◽  
The Brain

The review reflects modern information on the brain dysontogenesis of patients with autism spectrum disorders throughout life. The features of the stages of age-related disorders of the structure and functional state of the brain of such patients are presented. Along with the description of defects in the morphofunctional organization of the brain of patients, attention is focused on the presence of individual differences of such defects, which determines the heterogeneity of the clinical manifestations of the disease.

scholarly journals Clinical polymorphism and variability in education of autistic children

2016 ◽  
Vol 14 (4) ◽  
pp. 3-9
Author(s):  
S.A. Morozov ◽  
T.I. Morozova
Keyword(s):  
Autism Spectrum Disorders ◽  
Correctional Education ◽  
Educational Development ◽  
Clinical Signs ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Autistic Children ◽  
Spectrum Disorders ◽  
Main Components ◽  
Education Process

Children with autism spectrum disorders are considered a highly heterogeneous group by clinical signs, which makes it impossible to develop a common method of correctional and educational development for them. In this article, results of an analysis of clinical, psychological and pedagogic polymorphism in autism spectrum disorders are shown, emphasized are its main components and basic consequences necessary for organizing education. Results are viewed in the context of the principle of variability in education. A dual structure of variability in education of autistic children has been discovered. Shortly reviewed are some topical problems of correctional education process for autism spectrum disorders.

scholarly journals Family paracentric inversion of the short arm of chromosome X (Xp21.2p11.23) and connection with autism spectrum disorders

2012 ◽  
Vol 140 (11-12) ◽  
pp. 760-764 ◽  
Author(s):  
Milica Pejovic-Milovancevic ◽  
Marija Vesic ◽  
Marko Jelisavcic ◽  
Snezana Niksic ◽  
Gordana Radivojevic-Pilic ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Cytogenetic Analysis ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Clinical Signs ◽  
Autism Spectrum ◽  
Paracentric Inversion ◽  
Chromosome X ◽  
Spectrum Disorders ◽  
Genetic And Environmental Factors

Introduction. Autism spectrum disorders (ASDs) are a group of complex pervasive developmental disorders characterized by impairments in communication, social interaction and behavior. In most cases autism is caused by a combination of genetic factors and environmental risk factors. In 10% to 20% of cases it has been shown that the cause of ASD is genetic. Case Outline. We are describing a 2-year-old boy who was referred to genetic counseling because of speech delay and certain autism-like behavior. By cytogenetic analysis the karyotype 46, inv(X),Y was obtained. The boy was a carrier of a paracentric inversion of the short arm of the chromosome X. After cytogenetic analysis of parental blood, it was detected that mother was a carrier of identical aberration, but had no clinical signs. The method of fluorescent in situ hybridization (FISH) yielded the precise breakpoint in the region (p21.2p11.23). Mother and son were carriers of identical X chromosome. Conclusion. Breakpoints are located in the regions that have already been linked to autism, which indicates that the positional effect of the gene could have been a possible cause of the patient?s genotype. In addition to positional effects, in order to better understand the etiology of autism other genetic and environmental factors should be always taken into consideration.

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