scholarly journals Adaptive Status, Autistic Symptoms and Cognitive Profile in Patients with Monogenic Form of Autism Spectrum Disorders – Fragile X Syndrome.

2020 ◽  
Vol 9 (2) ◽  
pp. 79-98
Author(s):  
K.K. Danilina ◽  
N.L. Gorbachevskaya
Keyword(s):  
Life Skills ◽  
Fragile X ◽  
Autism Spectrum ◽  
Adaptive Skills ◽  
Observation Scale ◽  
Monogenic Form ◽  
Autistic Symptoms ◽  
Spectrum Disorders ◽  
Almost All ◽  
Autistic Disorders

The article analyzes psychological data of a large group (55 males and 6 females) of subjects with monogenic form of hereditary cognitive impairment with autistic symptoms – Martin-Bell syndrome (FXS) at different age ranges (from 2 to 34 years old). As a result of the analysis, significant cognitive impairments were identified, which persisted throughout the studied age interval (IQ 50 ± 2.1 in males and 60 ± 5.6 in females). Autistic disorders were observed on average in 60% of subjects (less in females) and were most pronounced at 8-12 years. Use of Autism Diagnostic Observation Scale-2 (ADOS-2) allowed us to show that “Social Affect” scale makes the main contribution to overall score of autistic manifestations. Almost all subjects showed a significantly reduced level of adaptive skills. The lowest scores on “Communication”, “Socialization” and “Everyday life skills” scales were observed at the age of 8-12 years. With increase in age, subjects improved only on “Daily Life Skills” scale. It was also shown that a higher degree of adaptation and better nonverbal intelligence was observed in children with less severe autistic symptoms.

Altered Chemical Metabolites in the Amygdala-Hippocampus Region Contribute to Autistic Symptoms of Autism Spectrum Disorders

2007 ◽  
Vol 62 (9) ◽  
pp. 1030-1037 ◽  
Author(s):  
Taro Endo ◽  
Toshiki Shioiri ◽  
Hideaki Kitamura ◽  
Teruo Kimura ◽  
Sumio Endo ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Autistic Symptoms ◽  
Spectrum Disorders

scholarly journals Certain Inclusion Problems in Autism Spectrum Disorders

2020 ◽  
Vol 18 (1) ◽  
pp. 51-61
Author(s):  
S.A. Morozov ◽  
S.S. Morozova ◽  
T.I. Morozova
Keyword(s):  
Autism Spectrum Disorders ◽  
Inclusive Education ◽  
Autism Spectrum ◽  
Ceteris Paribus ◽  
Inclusion Process ◽  
Great Achievement ◽  
Patterns Of Behavior ◽  
Spectrum Disorders ◽  
The Stability ◽  
Autistic Disorders

The term “Inclusion” is not identical to the concepts of “Inclusive education”, which is much wider. The educational system of children with autism spectrum disorders (ASD) in Russia is only developing and the focus on inclusion is a great achievement. Inclusive education in autistic disorders is a special case. The most difficulties in organizing of inclusion of children with ASD caused by main symptoms — communication and social interaction disorders, repeated stereotypical patterns of behavior, interests and activities. After all, these symptoms create a special development situation that makes necessary to solve the following problems: improving the organization of the inclusive process, feasibility and possibility of inclusion process. Typical difficulties faced by domestic and foreign experts reviewed, for example: increased social anxiety in children, lack of trained personnel, and lack of diagnostic in children. Emphasized that the success of inclusion process depends on several things: the readiness for inclusion of the child with autism, the readiness of the environment where inclusion carried out, the level of its tolerance and, finally, the competence of psychological and pedagogical staff. The age of the child and the environment plays a large role: ceteris paribus, the early onset of inclusion contributes to the stability of inclusive readiness of the environment.

scholarly journals Some of the early help features for children with autism spectrum disorders

2017 ◽  
Vol 15 (2) ◽  
pp. 19-31
Author(s):  
S.A. Morozov ◽  
S.S. Morozova ◽  
T.I. Morozova
Keyword(s):  
At Risk ◽  
Autism Spectrum Disorders ◽  
High Risk ◽  
Risk Group ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Children At Risk ◽  
Early Care ◽  
Spectrum Disorders ◽  
Autistic Disorders

Early help for children with autism spectrum disorders is the most effective way of intervention for disorders. In the process of identifying children at risk of autistic disorders, correctional work should begin before the official diagnosis has been made. It should start in the process of diagnosis, which leads to the risk of noting false-positive cases. The empirical and theoretical grounds for the necessity for early care in autism spectrum disorders are examined. Features of early care for children at high risk of developing disorders are also de¬scribed. The stages of early diagnosis of autism spectrum disorders are identified and compared with the stages of early care for such children. The strategy of early care methodological support for children at risk is defined. Propositions for practical realizations of the Concept of developing early support in Russian Federation in the period until 2020 for the risk group concerning autism spectrum disorders.

Experience in the use of transcranial micro polarization in children with autism spectrum disorders

2021 ◽  
Vol 2 (1) ◽  
pp. 22-28
Author(s):  
Ludmila M. Kuzenkova ◽  
Anna V. Lashkova ◽  
Olga M. Konova ◽  
Tatyana G. Petelguzova
Keyword(s):  
Autism Spectrum Disorders ◽  
Developmental Disorders ◽  
Children With Autism ◽  
Social Situation ◽  
Treatment Method ◽  
Autism Spectrum ◽  
Clinical Diagnoses ◽  
Spectrum Disorders ◽  
Autistic Disorders ◽  
Positive Effect

Introduction. Autism is a disorder characterized by social interaction disorders, social-emotional reciprocity, responses to other people’s emotions, social use of speech skills, lack of modulations of behavior under the social situation, and limited interest stereotypes. The comprehensive approach using medical and psychological correction with physical methods of influence provides the best result in treating and rehabilitating children with autism. The original study examined the effects of transcranial micro polarization (TCMP) on the dynamics of autistic disorders. TCMP is a modern treatment method consisting of a directed polarizing impact of a low-power DC on specific brain areas. Materials and methods. There were observed 25 children aged from 2 years five months to 6 years with varying degrees of severity of autism spectrum disorders (ASD). For the study, three groups were identified according to the corresponding clinical diagnoses: Childhood autism, Atypical autism, and Other general developmental disorders. The vast majority of children from the first two groups had an intellectual disability of varying severity. The TCMP method was used to assess the technique’s effectiveness, the CARS diagnostic scale and the ATEK test. Results. At the end of the course, with the use of TCMP in all the analyzed groups, there was a shift towards a milder degree of autistic disorders. The most significant positive effect was recorded in children with mild forms of autism in the group of other general developmental disorders due to the initially higher level of development in this group. Conclusion. The results obtained demonstrate the effectiveness of TCMP in ASD children. According to the results of the study, the positive effect of this method was revealed in the form of reducing the severity of autistic disorders.

The epigenetic regulation of synaptic genes contributes to the etiology of autism

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Annamaria Srancikova ◽  
Zuzana Bacova ◽  
Jan Bakos
Keyword(s):  
Epigenetic Regulation ◽  
Neurodevelopmental Disorders ◽  
Autism Spectrum ◽  
Prader Willi Syndrome ◽  
Epigenetic Mechanisms ◽  
Substantial Evidence ◽  
Autistic Symptoms ◽  
Spectrum Disorders ◽  
The Brain

Abstract Epigenetic mechanisms greatly affect the developing brain, as well as the maturation of synapses with pervasive, long-lasting consequences on behavior in adults. Substantial evidence exists that implicates dysregulation of epigenetic mechanisms in the etiology of neurodevelopmental disorders. Therefore, this review explains the role of enzymes involved in DNA methylation and demethylation in neurodevelopment by emphasizing changes of synaptic genes and proteins. Epigenetic causes of sex-dependent differences in the brain are analyzed in conjunction with the pathophysiology of autism spectrum disorders. Special attention is devoted to the epigenetic regulation of the melanoma-associated antigen-like gene 2 (MAGEL2) found in Prader-Willi syndrome, which is known to be accompanied by autistic symptoms.

scholarly journals Compromising the phosphodependent regulation of the GABAAR β3 subunit reproduces the core phenotypes of autism spectrum disorders

2015 ◽  
Vol 112 (48) ◽  
pp. 14805-14810 ◽  
Author(s):  
Thuy N. Vien ◽  
Amit Modgil ◽  
Armen M. Abramian ◽  
Rachel Jurd ◽  
Joshua Walker ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Fragile X ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Membrane Stability ◽  
Receptor Subtypes ◽  
Neuronal Inhibition ◽  
Spectrum Disorders ◽  
Spine Structure

Alterations in the efficacy of neuronal inhibition mediated by GABAA receptors (GABAARs) containing β3 subunits are continually implicated in autism spectrum disorders (ASDs). In vitro, the plasma membrane stability of GABAARs is potentiated via phosphorylation of serine residues 408 and 409 (S408/9) in the β3 subunit, an effect that is mimicked by their mutation to alanines. To assess if modifications in β3 subunit expression contribute to ASDs, we have created a mouse in which S408/9 have been mutated to alanines (S408/9A). S408/9A homozygotes exhibited increased phasic, but decreased tonic, inhibition, events that correlated with alterations in the membrane stability and synaptic accumulation of the receptor subtypes that mediate these distinct forms of inhibition. S408/9A mice exhibited alterations in dendritic spine structure, increased repetitive behavior, and decreased social interaction, hallmarks of ASDs. ASDs are frequently comorbid with epilepsy, and consistent with this comorbidity, S408/9A mice exhibited a marked increase in sensitivity to seizures induced by the convulsant kainic acid. To assess the relevance of our studies using S408/9A mice for the pathophysiology of ASDs, we measured S408/9 phosphorylation in Fmr1 KO mice, a model of fragile X syndrome, the most common monogenetic cause of ASDs. Phosphorylation of S408/9 was selectively and significantly enhanced in Fmr1 KO mice. Collectively, our results suggest that alterations in phosphorylation and/or activity of β3-containing GABAARs may directly contribute to the pathophysiology of ASDs.

Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

2012 ◽  
Vol 16 (1) ◽  
pp. 58-66 ◽  
Author(s):  
Rebecca Hinton ◽  
Dejan B. Budimirovic ◽  
Peter B. Marschik ◽  
Victor B. Talisa ◽  
Christa Einspieler ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Early Language ◽  
Parental Reports ◽  
Spectrum Disorders

scholarly journals Fragile phagocytes: FMRP positively regulates engulfment activity

2017 ◽  
Vol 216 (3) ◽  
pp. 531-533 ◽  
Author(s):  
Mary A. Logan
Keyword(s):  
Innate Immunity ◽  
Drosophila Melanogaster ◽  
Immune System ◽  
Immune Cells ◽  
Fragile X ◽  
Autism Spectrum ◽  
Abnormal Development ◽  
System Function ◽  
Immune System Function ◽  
Spectrum Disorders

Defective immune system function is implicated in autism spectrum disorders, including Fragile X syndrome. In this issue, O’Connor et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201607093) demonstrate that phagocytic activity of systemic immune cells is compromised in a Drosophila melanogaster model of Fragile X, highlighting intriguing new mechanistic connections between FMRP, innate immunity, and abnormal development.

scholarly journals Executive Functions and Adaptive Behaviour in Autism Spectrum Disorders with and without Intellectual Disability

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
Simonetta Panerai ◽  
Domenica Tasca ◽  
Raffaele Ferri ◽  
Valentina Genitori D’Arrigo ◽  
Maurizio Elia
Keyword(s):  
Autism Spectrum Disorders ◽  
Intellectual Disability ◽  
Executive Functions ◽  
Autism Spectrum ◽  
Adaptive Skills ◽  
Adaptive Behaviour ◽  
High Functioning ◽  
Mental Flexibility ◽  
Spectrum Disorders ◽  
Adaptive Ability

Executive functions (EF) in autism spectrum disorders (ASD) have been often investigated, although results seem to be rather inconsistent. The first aim of this study was to detect which EF components are common to the ASD continuum (from high- to low-functioning ASD) and identify a possible EF profile for ASD people. Planning, mental flexibility, inhibition of response, generativity, and ecologic EF were investigated. This study was extended not only to high-functioning ASD, but also to ASD with intellectual disability (ID). The second aim was to find EF aspects correlating with adaptive skills in ASD. A total of 61 children participated in the study (27 ASD with and without ID and 34 controls). Results highlight an executive profile characterised by impaired flexibility and deficient planning; these deficits are associated with decreased adaptive ability, particularly socialization, and a deficient shifting in ecologic conditions. These features are present in all ASD subgroups with and without ID; for this reason, they might be assumed as being specific features in ASD.

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