scholarly journals Erythrocyte Deformability in Children With Autism Spectrum Disorder: Correlation With Clinical Features

2019 ◽  
pp. S307-S313
Author(s):  
T. JASENOVEC ◽  
D. RADOSINSKA ◽  
H. CELUSAKOVA ◽  
D. FILCIKOVA ◽  
K. BABINSKA ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Clinical Symptoms ◽  
Intrinsic Property ◽  
Tissue Perfusion ◽  
Significant Negative Correlation ◽  
Biomechanical Properties ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Erythrocyte Deformability ◽  
Spectrum Disorder

Biomechanical properties of erythrocytes play an important role in health and disease. Deformability represents intrinsic property of erythrocytes to undergo deformation that is crucial for their passage through the narrow capillaries. The erythrocyte damage can lead to compromised tissue perfusion and consequently play a role in the pathogenesis of various diseases including neurological ones. Data available in databases indicate that erythrocytes in autism spectrum disorder (ASD) are altered. This may affect the clinical symptoms of ASD. The aim of our study was to determine erythrocyte deformability in 54 children with ASD and correlate it with clinical symptoms. We found significant negative correlation between erythrocyte deformability and score in C domain of the Autism Diagnostic Interview-Revised (ADI-R) diagnostic tool describing the measure of restrictive, repetitive, and stereotyped behaviors and interests, mainly observable in C1 and C2, but not in C3 and C4 subdomains. This supports the findings of other authors and suggest that behavioral domain C comprises of more subcategories with different underlying etiology. Our results also indicate that abnormalities in erythrocyte deformability may be involved in ASD pathomecha-nisms and contribute to its clinical manifestation. Further research is necessary to bring more data and identify erythrocyte deformability as prognostic biomarker in ASD.

Co-occurring trajectories of anxiety and insistence on sameness behaviour in autism spectrum disorder

2020 ◽  
Vol 218 (1) ◽  
pp. 20-27
Author(s):  
Danielle A. Baribeau ◽  
Simone Vigod ◽  
Eleanor Pullenayegum ◽  
Connor M. Kerns ◽  
Pat Mirenda ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Middle Childhood ◽  
Child Behavior Checklist ◽  
Childhood Anxiety ◽  
Parent Report ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Anxiety Symptoms ◽  
Spectrum Disorder ◽  
Insistence On Sameness

BackgroundChildren with autism spectrum disorder (ASD) have increased susceptibility to anxiety disorders. Variation in a common ASD symptom, insistence on sameness behaviour, may predict future anxiety symptoms.AimsTo describe the joint heterogeneous longitudinal trajectories of insistence on sameness and anxiety in children with ASD and to characterise subgroups at higher risk for anxiety.MethodIn a longitudinal ASD cohort (n = 421), insistence on sameness behaviour was measured using the Autism Diagnostic Interview-Revised at approximately ages 3, 6 and 11 years. Anxiety was quantified at 8 time points between ages 3 and 11 years using the Child Behavior Checklist (CBCL) (parent report). Clusters of participants following similar trajectories were identified using group-based and joint trajectory modelling.ResultsThree insistence on sameness trajectories were identified: (a) ‘low-stable’ (41.7% of participants), (b) ‘moderate-increasing’ (52.0%) and (c) ‘high-peaking’ (i.e. increasing then stabilising/decreasing behaviour) (6.3%). Four anxiety trajectories were identified: (a) ‘low-increasing’ (51.0%), (b) ‘moderate-decreasing’ (16.2%), (c) ‘moderate-increasing’ (19.6%) and (d) ‘high-stable’ (13.1%). Of those assigned to the ‘high-peaking’ insistence on sameness trajectory, 95% jointly followed an anxiety trajectory that surpassed the threshold for clinical concern (T-score >65) by middle childhood (anxiety trajectories 3 or 4). Insistence on sameness and anxiety trajectories were similar in severity and direction for 64% of the sample; for 36%, incongruous patterns were seen (e.g. decreasing anxiety and increasing insistence on sameness).ConclusionsThe concurrent assessment of insistence on sameness behaviour and anxiety in ASD may help in understanding current symptom profiles and anticipating future trajectories. High preschool insistence on sameness in particular may be associated with elevated current or future anxiety symptoms.

scholarly journals An ontology for Autism Spectrum Disorder (ASD) to infer ASD phenotypes from Autism Diagnostic Interview-Revised data

2015 ◽  
Vol 56 ◽  
pp. 333-347 ◽  
Author(s):  
Omri Mugzach ◽  
Mor Peleg ◽  
Steven C. Bagley ◽  
Stephen J. Guter ◽  
Edwin H. Cook ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Spectrum Disorder ◽  
Autism Diagnostic Interview

Correlations Between the Parents’ ADHD Score and the Child's ADOS Score in Parents of Children with Comorbid ADHD–Autism Spectrum Disorder

2017 ◽  
Vol 41 (S1) ◽  
pp. S221-S221
Author(s):  
F. Rad ◽  
L. Kobylinska ◽  
I. Mihailescu ◽  
A. Buica ◽  
I. Dobrescu
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum Disorders ◽  
Adult Adhd ◽  
Rating Scale ◽  
Clinical Symptoms ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Autism Spectrum Quotient ◽  
Spectrum Disorders

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.

scholarly journals Reproducible functional connectivity alterations are associated with autism spectrum disorder

2018 ◽  
Author(s):  
Štefan Holiga ◽  
Joerg F. Hipp ◽  
Christopher H. Chatham ◽  
Pilar Garces ◽  
Will Spooren ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Functional Connectivity ◽  
Large Scale ◽  
Clinical Symptoms ◽  
Brain Activity ◽  
Network Connectivity ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Replication Procedure ◽  
Medication Status

AbstractDespite the high clinical burden little is known about pathophysiology underlying autism spectrum disorder (ASD). Recent resting state functional magnetic resonance imaging (rs-fMRI) studies have found atypical synchronization of brain activity in ASD. However, no consensus has been reached on the nature and clinical relevance of these alterations. Here we address these questions in the most comprehensive, large-scale effort to date comprising evaluation of four large ASD cohorts. We followed a strict exploration and replication procedure to identify core rs-fMRI functional connectivity (degree centrality) alterations associated with ASD as compared to typically developing (TD) controls (ASD: N=841, TD: N=984). We then tested for associations of these imaging phenotypes with clinical and demographic factors such as age, sex, medication status and clinical symptom severity. We find reproducible patterns of ASD-associated functional hyper- and hypo-connectivity with hypo-connectivity being primarily restricted to sensory-motor regions and hyper-connectivity hubs being predominately located in prefrontal and parietal cortices. We establish shifts in between-network connectivity from outside to within the identified regions as a key driver of these abnormalities. The magnitude of these alterations is linked to core ASD symptoms related to communication and social interaction and is not affected by age, sex or medication status. The identified brain functional alterations provide a reproducible pathophysiological phenotype underlying the diagnosis of ASD reconciling previous divergent findings. The large effect sizes in standardized cohorts and the link to clinical symptoms emphasize the importance of the identified imaging alterations as potential treatment and stratification biomarkers for ASD.

scholarly journals Self-injurious behaviors in children with autism spectrum disorder enrolled in the Study to Explore Early Development

Autism ◽  
2017 ◽  
Vol 22 (5) ◽  
pp. 625-635 ◽  
Author(s):  
Gnakub Norbert Soke ◽  
Steven A Rosenberg ◽  
Cordelia Robinson Rosenberg ◽  
Roma A Vasa ◽  
Li-Ching Lee ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Early Development ◽  
Behavioral Problems ◽  
Maternal Age ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Spectrum Disorder ◽  
Birth Certificates ◽  
Future Research

We assessed potential factors associated with “current” or “ever” self-injurious behaviors, reported in the Autism Diagnostic Interview–Revised, among children with autism spectrum disorder (n = 692) from the Study to Explore Early Development. Data on factors examined were obtained from questionnaires, standardized clinical instruments, and birth certificates. We employed a log-binomial regression to assess these associations. Although most associations were quite similar for currently and ever exhibiting self-injurious behaviors, a few differences were noted. We documented previously unreported associations of current self-injurious behaviors with maternal age and cesarean delivery, and ever self-injurious behaviors with maternal age, child sex, gestational age, and maternal race. We also confirmed previously reported associations with adaptive skills, somatic conditions (sleep, gastrointestinal, and sensory abnormalities), and other behavioral problems. These findings are informative for clinical practice and future research.

scholarly journals Associations between cooperation, reactive aggression and social impairments among boys with autism spectrum disorder

Autism ◽  
2017 ◽  
Vol 23 (1) ◽  
pp. 154-166 ◽  
Author(s):  
Miia Kaartinen ◽  
Kaija Puura ◽  
Päivi Pispa ◽  
Mika Helminen ◽  
Raili Salmelin ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Reactive Aggression ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Spectrum Disorder ◽  
Situational Cues ◽  
Social Impairments ◽  
Autism Diagnostic Interview ◽  
Human Ability ◽  
Self Interest

Cooperation is a fundamental human ability that seems to be inversely related to aggressive behaviour in typical development. However, there is no knowledge whether similar association holds for children with autism spectrum disorder. A total of 27 boys with autism spectrum disorder and their gender, age and total score intelligence matched controls were studied in order to determine associations between cooperation, reactive aggression and autism spectrum disorder–related social impairments. The participants performed a modified version of the Prisoner’s Dilemma task and the Pulkkinen Aggression Machine which measure dimensions of trust, trustworthiness and self-sacrifice in predisposition to cooperate, and inhibition of reactive aggression in the absence and presence of situational cues, respectively. Autism spectrum disorder severity–related Autism Diagnostic Interview-algorithm scores were ascertained by interviewing the parents of the participants with a semi-structured parental interview (Developmental, Dimensional and Diagnostic Interview). The results showed that albeit the boys with autism spectrum disorder were able to engage in reciprocation and cooperation regardless of their social impairments, their cooperativeness was positively associated with lower levels of reactive aggression and older age. Thus, strengthening inhibition mechanisms that regulate reactive aggression might make boys with autism spectrum disorder more likely to prefer mutual gain over self-interest in cooperation.

Factors That Affect Age of Identification of Children With an Autism Spectrum Disorder

2016 ◽  
Vol 39 (1) ◽  
pp. 18-32 ◽  
Author(s):  
Chana R. Adelman ◽  
Thomas Kubiszyn
Keyword(s):  
Autism Spectrum Disorder ◽  
Pearson Correlation ◽  
Significant Negative Correlation ◽  
The United States ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Age Of Diagnosis ◽  
The Mean ◽  
Post Hoc ◽  
One Way Anova

This study explored factors associated with age of identification of autism spectrum disorder (ASD). Results of a one-way ANOVA indicated differences in age of diagnosis among the four regions in the United States, F(3, 650) = 7.618, p = .01. Tukey’s post hoc comparisons of the groups indicated that the mean age of diagnosis in the Midwest ( M = 38.9 months or 3 years, 3 months) was significantly later than in the Northeast ( M = 32.75 months or 2 years, 9 months, p = .000) and South ( M = 33.26 months or 2 years, 9 months, p = .000). Results of a Pearson correlation indicated a significant negative correlation ( r = −.409, n = 654, p = .000) between date of birth and age of diagnosis, with more recent birthdays associated with lower age of diagnosis. Regression results were statistically significant, F(25, 620) = 7.549, p < .001, R2 = .233, with some factors predicting earlier age of diagnosis and some factors predicting later diagnosis.

scholarly journals Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder

2020 ◽  
Author(s):  
Yi Liang ◽  
Yinghong Lu ◽  
Sisi Ning ◽  
Guosheng Deng ◽  
Yulin Xie ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
High Resolution ◽  
Behavioral Problems ◽  
Motor Development ◽  
Clinical Symptoms ◽  
Karyotype Analysis ◽  
Partial Trisomy ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosome 15

Abstract Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by conventional cytogenetic analysis. Duplication of chromosome 15 might be account for 50% of the total sSMCs and usually leads to mental retardation, structural malformation, behavioral problems and epilepsy.Case presentation: An 11-month-old infant with an sSMC was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 together with a 1.84-Mb duplication of 15q13.2q13.3 was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47, XY,+inv dup(15)(pter/q13::q13/pter) which identify the proband was 15q duplication syndrome (dup15q). Furthermore, the clinical symptoms of the proband mostly fit this disease which is characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability.Conclusion: Our research indicates that CNV-seq is a robust, sensitive and economical way for diagnosis of dup15q and related disorders.

scholarly journals Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder 

2020 ◽  
Author(s):  
Yinghong Lu ◽  
Yi Liang ◽  
Sisi Ning ◽  
Guosheng Deng ◽  
Yulin Xie ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
High Resolution ◽  
Developmental Delay ◽  
Motor Development ◽  
Clinical Symptoms ◽  
Karyotype Analysis ◽  
Partial Trisomy ◽  
Autism Spectrum ◽  
Spectrum Disorder

Abstract Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers. Duplication of chromosome 15 and related disorders, characterized by hypotonia motor delays, autism spectrum disorder (ASD), intellectual disability, and epilepsy including infantile spasms, might be account for 50% of the total sSMCs. Case presentation: An 11-month-old infant with an sSMC fond by banding cytogenetics was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 (3.96 copies) together with a 1.84-Mb duplication of 15q13.2q13.3 (3 copies) was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47,XY,+dic(15;15)(q13.2;q13.3). Furthermore, the clinical symptoms of the proband mostly fit 15q duplication related disorders which are characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability. Conclusion: We reported for the first time using CNV-Seq to detect sSMCs and find a partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. Our report indicates that CNV-seq is a useful and economical way for diagnosis of dup15q and related disorders.

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