scholarly journals Brief Report: Specificity of Interpersonal Synchrony Deficits to Autism Spectrum Disorder and Its Potential for Digitally Assisted Diagnostics

2021 ◽  
Author(s):  
Jana Christina Koehler ◽  
Alexandra Livia Georgescu ◽  
Johanna Weiske ◽  
Moritz Spangemacher ◽  
Lana Burghof ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Screening Tools ◽  
Outpatient Clinics ◽  
Diagnostic Process ◽  
Interpersonal Synchrony ◽  
Diagnostic Interviews ◽  
Spectrum Disorders ◽  
Current Screening

AbstractReliably diagnosing autism spectrum disorders (ASD) in adulthood poses a challenge to clinicians due to the absence of specific diagnostic markers. This study investigated the potential of interpersonal synchrony (IPS), which has been found to be reduced in ASD, to augment the diagnostic process. IPS was objectively assessed in videos of diagnostic interviews in a representative referral population from two specialized autism outpatient clinics. In contrast to the current screening tools that could not reliably differentiate, we found a significant reduction of IPS in interactions with individuals later diagnosed with ASD (n = 16) as opposed to those not receiving a diagnosis (n = 23). While these findings need to be validated in larger samples, they nevertheless underline the potential of digitally-enhanced diagnostic processes for ASD.

Screening tools for autism spectrum disorders

2015 ◽  
Vol 1 (1) ◽  
pp. 12-29 ◽  
Author(s):  
Tanja Sappok ◽  
Manuel Heinrich ◽  
Lisa Underwood
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Design Methodology ◽  
Autism Spectrum ◽  
Screening Tools ◽  
Assessment Process ◽  
Diagnostic Validity ◽  
Content Type ◽  
Many Instruments ◽  
Spectrum Disorders

Purpose – Diagnosing autism spectrum disorder (ASD) is important over the whole life span. Standardized instruments may support the assessment process. The purpose of this paper is to describe English- and German-screening tools for ASD. Design/methodology/approach – PubMed was used to search for published tools and evidence on their diagnostic validity. Findings – Searches identified 46 screening tools for ASD. Most are designed for children, while only few measures are available for adults, especially those with additional intellectual disabilities. Many instruments are under-researched, although a small number such as the Modified Checklist for Autism in Toddlers and the SCQ have been widely examined in a variety of populations. Originality/value – The study identified and described a number of ASD screeners that can support clinicians or researchers when deciding whether to carry out a more comprehensive ASD assessment.

scholarly journals Mutation analysis of the NRXN1 gene in autism spectrum disorders

2016 ◽  
Vol 19 (2) ◽  
pp. 17-22 ◽  
Author(s):  
H Onay ◽  
D Kacamak ◽  
AN Kavasoglu ◽  
B Akgun ◽  
M Yalcinli ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Children And Adolescents ◽  
Gene Mutations ◽  
Autism Spectrum ◽  
Syndromic Autism ◽  
Spectrum Disorders ◽  
Strong Candidate ◽  
Reduced Penetrance

AbstractThe aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.

scholarly journals Educational Competence in the Inclusion of Children with Autism Spectrum Disorder in Early and Pre-school Education Institution

2019 ◽  
Vol 21 ◽  
Author(s):  
Esmeralda Sunko ◽  
Edita Rogulj ◽  
Ana Živković
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Communication Technology ◽  
Children With Autism ◽  
Autism Spectrum ◽  
School Education ◽  
Spectrum Disorder ◽  
Information Communication ◽  
Self Assessment ◽  
Spectrum Disorders

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

scholarly journals Hyperacusis in Autism Spectrum Disorders

2021 ◽  
Vol 11 (4) ◽  
pp. 547-556
Author(s):  
Ali A. Danesh ◽  
Stephanie Howery ◽  
Hashir Aazh ◽  
Wafaa Kaf ◽  
Adrien A. Eshraghi
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Assessment And Treatment ◽  
Spectrum Disorders ◽  
The Relationship

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.

Relationships Between the Participation Levels of Children With Autism Spectrum Disorders and the Time They Spend in Resource Rooms in Taiwan

2021 ◽  
Vol 75 (Supplement_2) ◽  
pp. 7512510287p1-7512510287p1
Author(s):  
Chiao-Ju Fang
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Significant Relationships ◽  
Children With Asd ◽  
Inclusive Settings ◽  
Spectrum Disorders ◽  
Resource Rooms ◽  
Primary Author

Abstract Date Presented Accepted for AOTA INSPIRE 2021 but unable to be presented due to online event limitations. The aim of this study was to help educators and clinicians better understand how the amount of time children with autism spectrum disorder (ASD) spend in resource rooms affects their participation levels in inclusive educational settings in Taiwan. No statistically significant relationships were found. This study provides professionals with a model for assessing how resource rooms impact the participation levels of children with ASD in inclusive settings. Primary Author and Speaker: Chiao-Ju Fang

scholarly journals Diagnosis of Autism Spectrum Disorder in Adolescents with Complex Clinical Presentations: A Montreal Case Series

2019 ◽  
Vol 9 (1) ◽  
pp. 33-43
Author(s):  
Nicolas Garel ◽  
Patricia Garel
Keyword(s):  
Mental Health ◽  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Young Children ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Social Deficits ◽  
High Functioning ◽  
Intellectual Abilities ◽  
Spectrum Disorders

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.

Assisted reproductive technology has no association with autism spectrum disorders: The Taiwan Birth Cohort Study

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
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Propensity Score ◽  
Propensity Score Matching ◽  
Birth Cohort ◽  
Assisted Reproduction ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Assisted Reproduction Technology ◽  
Spectrum Disorders

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.

scholarly journals Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Autism ◽  
2020 ◽  
pp. 136236132096507
Author(s):  
Amy Niego ◽  
Antonio Benítez-Burraco
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Williams Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cognitive Domain ◽  
Cognitive Profiles ◽  
The Social ◽  
Spectrum Disorders ◽  
And Function

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.

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