Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice

Autism spectrum disorder (ASD) is a challenging developmental condition that involves restricted and/or repetitive behaviors and persistent challenges in social interaction and speech and nonverbal communication. There is not a standard medical test used to diagnose ASD; therefore, diagnosis is made by looking at the child's developmental history and behavior. In recent years, due to the increase in diagnosed cases of ASD, researchers proposed software-based tools to aid in and expedite the diagnosis. Considering the fact that most of these tools rely on the use of classifiers, in study, random forest, decision tree, k-nearest neighbors, and zero rule algorithms are used as classifiers, and their performances are compared using well-known performance metrics. As proven in the study, random forest algorithm can provide higher accuracy than the others in the classification of ASD and can be integrated into a computer- or humanoid-robot-based system for automated prescreening and diagnosis of ASD in preschool children groups.

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Differential Diagnosis of Autism Spectrum Disorder Versus Language Disorder in Children Ages 2 to 5 Years: Contributions of Parent-Reported Development and Behavior

Clinical Pediatrics ◽

10.1177/0009922819865794 ◽

2019 ◽

Vol 58 (11-12) ◽

pp. 1232-1238

Author(s):

Annette E. Richard ◽

Elise K. Hodges ◽

Martha D. Carlson

Keyword(s):

Autism Spectrum Disorder ◽

Differential Diagnosis ◽

Language Disorder ◽

Social Withdrawal ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Developmental Problems ◽

Self Help ◽

Children With Asd ◽

And Behavior

Early diagnosis of autism spectrum disorder (ASD) has focused on differentiating children with ASD from neurotypical children. However, many children presenting with concern for ASD are ultimately diagnosed with language disorder (LD). This study aimed to identify differences in parent-rated development and behavior among children ages 2 to 5 years presenting with concern for ASD who were diagnosed with either ASD or LD. Children with ASD were rated as more socially withdrawn and more delayed in social development and self-help skills than those with LD. Parent-rated developmental delays were positively correlated with scores on an autism screening measure and with social withdrawal and pervasive developmental problems among children with ASD. Among those with LD, parent-rated social and self-help development were positively correlated with social withdrawal and attention problems. Thus, parent ratings of social withdrawal and development of social and self-help skills may facilitate differential diagnosis of ASD and LD in children ages 2 to 5 years.

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Autistic Spectrum Disorder in the Context of Pandemic by Covid-19: Caring for Children and Caregivers

10.5772/intechopen.96583 ◽

2021 ◽

Author(s):

José Vilelas

Keyword(s):

Autism Spectrum Disorder ◽

Neurodevelopmental Disorders ◽

Scientific Evidence ◽

Children With Autism ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Special Importance ◽

Negative Behaviors ◽

The Family ◽

And Behavior

The COVID-19 pandemic has brought important challenges to society and families, with repercussions on child behavior and development with special importance for children with neurodevelopmental disorders that affect and impair the child’s functionality: Autism spectrum disorder. Thus, we set as objective to Identify and analyze the scientific evidence of interventions performed on children with Autism Spectrum Disorder in the context of a Covid-19 pandemic. A search was conducted in the MEDLINE, PubMed, CINHAL databases and gray literature. Children with Autism Spectrum Disorders (EAP) may become more anxious, agitated and unregulated with the change in routines to which they are subjected in this phase of the Covid 19 pandemic. Autism disorders affect communication, social interaction and behavior, usually with a tendency to be repetitive and routine, but in a scenario of pandemic and social isolation, anxiety and agitation may be more pronounced and, in more severe cases, there may be less capacity to function. It is important that the family of the child with ASD propose cooperative activities or resources that they have at home and that can be adapted. The insertion of some tasks contributes to the establishment of the ability to play independently. In it, the child gets involved independently. And so it prevents negative behaviors from occurring due to leisure and the need for attention, also favoring concentration.

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Technology-Assisted Intervention for Children with Autism Spectrum Disorder using Augmented Reality

International Journal of Recent Technology and Engineering - 2 ◽

10.35940/ijrte.c6512.018520 ◽

2020 ◽

Vol 8 (5) ◽

pp. 2156-2162

Keyword(s):

Autism Spectrum Disorder ◽

Augmented Reality ◽

Social Communication ◽

Children With Autism ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Children With Asd ◽

The Social ◽

Behavior Skills ◽

And Behavior

Technology-assisted intervention has potentials in improving the social, communication and behavior impairments in of children with autism spectrum disorder (ASD). Augmented reality (AR) offers multitude of possibilities and opportunities for the intervention of children with ASD. Therefore, this study identifies 13 researches from 2012 to 2018 that documented the efficacy of augmented reality applications in supporting the intervention of children with ASD. This study reviews the applications of augmented reality that nhanced the intervention for children with autism in (i) social skills, (ii) communication skills, and (iii) behavior skills. The conclusion reports the significant roles of augmented reality as technology-assisted intervention for children with ASD.

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Caregiver Daily Reporting of Symptoms in Autism Spectrum Disorder: Observational Study Using Web and Mobile Apps (Preprint)

10.2196/preprints.11365 ◽

2018 ◽

Author(s):

Abigail Bangerter ◽

Nikolay V. Manyakov ◽

David Lewin ◽

Matthew Boice ◽

Andrew Skalkin ◽

...

Keyword(s):

Clinical Trial ◽

Autism Spectrum Disorder ◽

Observational Study ◽

Mobile Apps ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Web Based ◽

Paper And Pencil ◽

And Behavior ◽

Retrospective Reporting

BACKGROUND Currently, no medications are approved to treat core symptoms of autism spectrum disorder (ASD). One barrier to ASD medication development is the lack of validated outcome measures able to detect symptom change. Current ASD interventions are often evaluated using retrospective caregiver reports that describe general clinical presentation but often require recall of specific behaviors weeks after they occur, potentially reducing accuracy of the ratings. My JAKE, a mobile and Web-based mobile health (mHealth) app that is part of the Janssen Autism Knowledge Engine—a dynamically updated clinical research system—was designed to help caregivers of individuals with ASD to continuously log symptoms, record treatments, and track progress, to mitigate difficulties associated with retrospective reporting. OBJECTIVE My JAKE was deployed in an exploratory, noninterventional clinical trial to evaluate its utility and acceptability to monitor clinical outcomes in ASD. Hypotheses regarding relationships among daily tracking of symptoms, behavior, and retrospective caregiver reports were tested. METHODS Caregivers of individuals with ASD aged 6 years to adults (N=144) used the My JAKE app to make daily reports on their child’s sleep quality, affect, and other self-selected specific behaviors across the 8- to 10-week observational study. The results were compared with commonly used paper-and-pencil scales acquired over a concurrent period at regular 4-week intervals. RESULTS Caregiver reporting of behaviors in real time was successfully captured by My JAKE. On average, caregivers made reports 2-3 days per week across the study period. Caregivers were positive about their use of the system, with over 50% indicating that they would like to use My JAKE to track behavior outside of a clinical trial. More positive average daily reporting of overall type of day was correlated with 4 weekly reports of lower caregiver burden made at 4-week intervals (r=–0.27, P=.006, n=88) and with ASD symptoms (r=–0.42, P<.001, n=112). CONCLUSIONS My JAKE reporting aligned with retrospective Web-based or paper-and-pencil scales. Use of mHealth apps, such as My JAKE, has the potential to increase the validity and accuracy of caregiver-reported outcomes and could be a useful way of identifying early changes in response to intervention. Such systems may also assist caregivers in tracking symptoms and behavior outside of a clinical trial, help with personalized goal setting, and monitoring of progress, which could collectively improve understanding of and quality of life for individuals with ASD and their families. CLINICALTRIAL ClinicalTrials.gov NCT02668991; https://clinicaltrials.gov/ct2/show/NCT02668991

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Candidate gene study of HOXB1 in autism spectrum disorder

Molecular Autism ◽

10.1186/2040-2392-1-9 ◽

2010 ◽

Vol 1 (1) ◽

pp. 9 ◽

Cited By ~ 4

Author(s):

Lucia A Muscarella ◽

Vito Guarnieri ◽

Roberto Sacco ◽

Paolo Curatolo ◽

Barbara Manzi ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Candidate Gene ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Candidate Gene Study ◽

Gene Study

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Deletion Involving the 7q31-32 Band at the CADPS2 Gene Locus in a Patient with Autism Spectrum Disorder and Recurrent Psychotic Syndrome Triggered by Stress

Case Reports in Psychiatry ◽

10.1155/2017/4254152 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Paulo André Pera Grabowski ◽

Alexandre Ferreira Bello ◽

Diogo Lima Rodrigues ◽

Murilo José Forbeci ◽

Vinicius Motter ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Gene Locus ◽

Association Studies ◽

Neurodevelopmental Disorder ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Genome Wide Association Studies ◽

Genome Wide ◽

Language Communication ◽

And Behavior

Autism spectrum disorder (ASD) is a neurodevelopmental disorder marked by impairments in social functioning, language, communication, and behavior. Recent genome-wide association studies show some microdeletions on the 7q31-32 region, including the CADPS2 locus in autistic patients. This paper reports the case of a patient with ASD and recurrent psychotic syndrome, in which a deletion on the 7q31-32 band at the CADPS2 gene locus was evidenced, as well as a brief review of the literature on the CADPS2 gene and its association with ASD.

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