scholarly journals The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

2011 ◽  
Vol 2011 ◽  
pp. 1-19 ◽  
Author(s):  
Jennifer Gerdts ◽  
Raphael Bernier

The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed thebroader autism phenotype(BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD.

Vestnik ◽  
2021 ◽  
pp. 269-273
Author(s):  
Ж.С. Олжатаева ◽  
А.М. Рахметова ◽  
А.Ж. Молдакарызова ◽  
Г.А. Тусупбекова ◽  
Б.Б. Аманбай ◽  
...  

В данной статье проанализированы особенности формирования коммуникативных навыков у детей с расстройством аутистического спектра. Анализ литературы, показал, что у большинства у детей с расстройством аутистического спектра коммуникативные нарушения обусловлены нарушениями социального взаимодействия, трудности с подражанием и имитацией движений по образцу, затруднено опознавание эмоциального состояния других людей. Развитие коммуникативных навыков является одним из важнейших направлений коррекционной работы с детьми с расстройствами аутистического спектра. Обучение делать заявления, комментировать события, задавать вопросы для получения информации, выражать и связывать эмоции, а также навыки реагирования, социального поведения и диалога являются предпосылками социализации детей. Учитывая особенности развития коммуникативных навыков у детей с расстройством аутистического спектра, авторами рассмотрены развивающие методики по формированию коммуникативных навыков у детей с расстройством аутистического спектра, применяемые в коррекционной педагогической работе. Представленные методы коррекции коммуникативных навыков у детей с расстройствами аутистического спектра направлены на формирование основных коммуникативных функций, социально-эмоциональных и диалогических навыков. Известно, что сформированные коммуникативные навыки обеспечивают социальную компетентность, диалогические коммуникативные навыки, взаимодействие и сотрудничество со сверстниками и взрослыми. Таким образом, методы формирования вербальных и невербальных коммуникативных функций, социально-эмоциональных умений и навыков диалога используются для коррекции и развития коммуникативных умений у детей с расстройствами аутистического спектра. This article analyzes the features of the formation of communication skills in children with autism spectrum disorder. The analysis of the literature showed that in most children with autism spectrum disorder, communication disorders caused by violations of social interaction, difficulties with imitation and imitation of movements on the model, it is difficult to recognize the emotional state of other people. The development of communication skills is one of the most important areas of correctional work with children with autism spectrum disorders. Learning to make statements, comment on events, ask questions for information express and connect emotions, as well as the skills of reaction, social behavior and dialogue are prerequisites for the socialization of children. Taking into account the peculiarities of the development of communication skills in children with autism spectrum disorder, the authors consider developing methods for the formation of communication skills in children with autism spectrum disorder, used in correctional pedagogical work. The presented methods of correction of communication skills in children with autism spectrum disorders aimed at the formation of basic communication functions, social-emotional and dialogic skills. It known that the formed communication skills provide social competence, dialogic communication skills, interaction and cooperation with peers and adults. Thus, methods for the formation of verbal and non-verbal communication functions, socio-emotional skills and dialogue skills used to correct and develop communication skills in children with autism spectrum disorders.


Author(s):  
Esmeralda Sunko ◽  
Edita Rogulj ◽  
Ana Živković

The paper focuses on the analysis of the conditions for inclusion of children with autism spectrum disorders in early and pre-school education by kindergartens teacher. The conditions relate to estimates of theoretical knowledge and attitudes of the educator, assessment of abilities and limitations of children with autism spectrum disorders, self-assessment of the competences of educators for their upbringing and education and assessment of other conditions for the inclusion of children with autism spectrum disorders. The survey results were analyzed by a questionnaire of 68 educators from 6 kindergartens in town of Split. There is a central level of knowledge about inclusion and low self-assessment of educators about their competence in which they are active participants in the inclusion of children with a disorder of the autism spectrum. Attractive factors for the implementation of inclusive education of children with autism spectrum disorder evaluated: inconsistent assurance of nursery assistants, lack of competent educators, and insufficient co-operation with parents of children with autism spectrum disorder. The analysis points to the lack of systematic education of educators for inclusive educational practice. The authors exclude the importance of the knowledge and skills of educators in the area of ​​information communication technology, particularly augmentative and alternative communication.Key words: children with autistic spectrum disorder; information communication technology; competence of the educator; Educational and Teaching Inclusion


2021 ◽  
Vol 11 (4) ◽  
pp. 547-556
Author(s):  
Ali A. Danesh ◽  
Stephanie Howery ◽  
Hashir Aazh ◽  
Wafaa Kaf ◽  
Adrien A. Eshraghi

Hyperacusis is highly prevalent in the autism spectrum disorder (ASD) population. This auditory hypersensitivity can trigger pragmatically atypical reactions that may impact social and academic domains. Objective: The aim of this report is to describe the relationship between decreased sound tolerance disorders and the ASD population. Topics covered: The main topics discussed include (1) assessment and prevalence of hyperacusis in ASD; (2) etiology of hyperacusis in ASD; (3) treatment of hyperacusis in ASD. Conclusions: Knowledge of the assessment and treatment of decreased sound tolerance disorders within the ASD population is growing and changing.


2019 ◽  
Vol 9 (1) ◽  
pp. 33-43
Author(s):  
Nicolas Garel ◽  
Patricia Garel

Background: Despite increased attention and recognition of autism spectrum disorders, many patients suffering from these disorders remain undiagnosed or are diagnosed late due to their subtle clinical presentation. The challenge for clinicians working in the field of mental health is not in screening and diagnosing young children showing typical signs of autism spectrum disorders, but rather in identifying patients at the high-functioning end of the spectrum whose intellectual abilities mask their social deficits. Objective: Because therapeutic interventions differ radically once the diagnosis of ASD has been made, it is important to understand the trajectory of those adolescents and identify clues that could help raise the diagnosis of ASD earlier. Methods: Records of eight adolescents with a late diagnosis of ASD were retrospectively reviewed to identify relevant clinical features that were overlooked in childhood and early adolescence. Results: The patients were previously misdiagnosed with multiple mental health disorders. These cases showed striking similarities in terms of developmental history, reasons for misdiagnosis, and the clinical picture at the time of ASD recognition. The cases were characterized by complex and fluctuating symptomatology, including depression, anxiety, behavioural problems, self-injurious behaviour and suicidal thoughts. Their Autism Spectrum Disorder (ASD) went previously undiagnosed due to the individual’s intelligence and learning abilities, which masked their social deficits and developmental irregularities. Signs of ASD were continuously present since childhood in all the eight cases. Once the developmental histories and the psychiatric evaluation of these adolescents were done by psychiatrists with appropriate knowledge of autism, the diagnosis of ASD was made. Conclusion: The ASD hypothesis should be raised in the presence of confusing symptoms that do not respond to usual treatment and are accompanied by an irregular developmental background. It is indeed a difficult diagnosis to make; however, the focused clinician can note subtle signs of ASD despite the intellectual learning of social codes. Family history, developmental irregularities, rigidity, difficulty in spontaneously understanding emotions, discomfort in groups and the need to be alone are significant indicators to recognize. Once the diagnosis has been considered, it must be confirmed or rejected by an experienced multidisciplinary team. The challenge for clinicians working in the field of mental health is not in screening and diagnosing young children showing typical signs of ASD, but rather in identifying patients who are at high-functioning end of the spectrum whose intellectual abilities mask their social deficits.


Autism ◽  
2017 ◽  
Vol 22 (3) ◽  
pp. 377-384 ◽  
Author(s):  
For-Wey Lung ◽  
Tung-Liang Chiang ◽  
Shio-Jean Lin ◽  
Meng-Chih Lee ◽  
Bih-Ching Shu

The use of assisted reproduction technology has increased over the last two decades. Autism spectrum disorders and assisted reproduction technology share many risk factors. However, previous studies on the association between autism spectrum disorders and assisted reproduction technology have shown inconsistent results. The purpose of this study was to investigate the association between assisted reproduction technology and autism spectrum disorder diagnosis in a national birth cohort database. Furthermore, the results from the assisted reproduction technology and autism spectrum disorder propensity score matching exact matched datasets were compared. For this study, the 6- and 66-month Taiwan Birth Cohort Study datasets were used (N = 20,095). In all, 744 families were propensity score matching exact matched and selected as the assisted reproduction technology sample (ratio of assisted reproduction technology to controls: 1:2) and 415 families as the autism spectrum disorder sample (ratio of autism spectrum disorder to controls: 1:4). Using a national birth cohort dataset, controlling for the confounding factors of assisted reproduction technology conception and autism spectrum disorder diagnosis, both assisted reproduction technology and autism spectrum disorder propensity score matching matched datasets showed the same results of no association between assisted reproduction technology and autism spectrum disorder. Further study on the detailed information regarding the processes and methods of assisted reproduction technology may provide us with more information on the association between assisted reproduction technology and autism spectrum disorder.


Autism ◽  
2020 ◽  
pp. 136236132096507
Author(s):  
Amy Niego ◽  
Antonio Benítez-Burraco

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of subjects with these two conditions. We found a significant overlap between differentially expressed genes compared to neurotypical controls, with most of them exhibiting a similar trend in both conditions, but with genes being more dysregulated in Williams syndrome than in autism spectrum disorders. These genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Lay abstract Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.


2017 ◽  
Vol 41 (S1) ◽  
pp. S221-S221
Author(s):  
F. Rad ◽  
L. Kobylinska ◽  
I. Mihailescu ◽  
A. Buica ◽  
I. Dobrescu

From assortative mating theory to genetic background, several ethipathogenic hypotheses in ASD deal with the traits of parents.Backgroundseveral ethipathogenic hypotheses in ASD deal with the traits of parents. The objectives of our study were to measure the ADHD and autism spectrum disorder quotients in parents of children diagnosed with ASD comorbid with ADHD and to correlate the measurements for the tests in parents with those in their children. The specific aim was to identify whether any significant correlations exist.MethodFifty-two pairs of parents of children with autism spectrum disorders and ADHD were included in this study, based on informed consent and the ethical committee's approval. The child's diagnosis was established by a specialist in child and adolescent psychiatry, based on the child's clinical symptoms and on specific diagnostic scales, such as the ADOS and ADHD-rating scale. The parents completed an Autism Spectrum Quotient Scale (ASQS) and an adult ADHD scale. The data were analyzed using SPSS 22.0 and Excel. The correlations were verified using Spearman's non-parametric correlation test.ResultsThere was a strong correlation between the parents’ ADHD scores (r = 0.5, P < 0.001), and a reverse medium correlation between the mother's ADHD score and the child's ADOS score (r = –0.32, P = 0.02). The father's ASQS and ADHD scores correlated between each other (r = 0.31, P = 0.02). There were no correlations between the parents’ and the child's ADHD score, nor between the child's ADOS score and the parents’ ASQS scores.ConclusionOur results suggest that ADHD symptoms in parents of children with autism spectrum disorders comorbid with ADHD might be predictors for the child's prognosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2017 ◽  
Vol 15 (4) ◽  
pp. 47-52
Author(s):  
T.Yu. Sunko

The problem of the formation of communicative behavior in students with autism spectrum disorder in considered. The communicative norms are described on the basis of which speech communication is founded. The mechanisms of constructing of communicative behavior in work with students with autism spectrum disorders within the framework of the lesson and after-hour activities are defined.


2016 ◽  
Vol 14 (1) ◽  
pp. 9-18
Author(s):  
S.A. Morozov ◽  
T.I. Morozova ◽  
B.V. Belyavskiy

At the stage of school education in the framework of comprehensive support for children with autism spectrum dis¬order it is important to adequately access their educational needs while taking all aspects of autistic disorders into consideration including intellectual disorders. This article examines some moments of interconnection between autism spectrum disorder and intellectual disability. It demonstrates that such interconnection can be treated as chronological comorbidity; it depicts dynamics and structure of connection between autism spectrum disorders and intellectual dis¬ability, different variants of qualitative characteristics of this connection; specifics of assessment of the level of intellect in autism spectrum disorders. The article provides practical recommendations for intellect assessment in children with autism spectrum disorder that allow avoiding mistakes in decision-making in educational trajectory of the child.


2020 ◽  
pp. 114-126
Author(s):  
Joanna Senderska

In this article, the case of eighteen-year-old Jacob Hunt, the main character of Jodi Picoult’s book entitled House Rules (W naszym domu in Polish translation) is discussed. Jacob is an example of a literary character with features similar to those of people with autism spectrum disorders (ASD). He suffers from Asperger syndrome, which belongs to ASD (autism spectrum disorder). That is why he finds it difficult to develop communication skills, which translates into disturbed communication. The disturbances involve difficulties in acquiring and applying social rules as well as having specific narrow interests. The author of this article points out the linguistic, as well as non-linguistic behaviour of the protagonist, which are specific for autism spectrum disorder. She also draws attention to the role that popular literature plays in creating the image of people with ASD and in popularizing information about this disorder.


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