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.

scholarly journals The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder: An Observational Study

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 96
Author(s):  
Martina Siracusano ◽  
Eugenia Segatori ◽  
Assia Riccioni ◽  
Leonardo Emberti Gialloreti ◽  
Paolo Curatolo ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Behavioral Problems ◽  
Adaptive Functioning ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Assessment System ◽  
Spectrum Disorder ◽  
Adaptive Skills ◽  
The Impact

Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions delivered in-person and routine disruption constituted some of the main challenges they had to face. This study investigated the impact of the COVID-19 lockdown on adaptive functioning, behavioral problems, and repetitive behaviors of children with ASD. In a sample of 85 Italian ASD children (mean age 7 years old; 68 males, 17 females), through a comparison with a baseline evaluation performed during the months preceding COVID-19, we evaluated whether after the compulsory home confinement any improvement or worsening was reported by parents of ASD individuals using standardized instruments (Adaptive Behavior Assessment System (Second Edition), Achenbach Child Behavior Checklist, Repetitive Behavior Scale-Revised). No significant worsening in the adaptive functioning, problematic, and repetitive behaviors emerged after the compulsory home confinement. Within the schooler children, clinical stability was found in reference to both adaptive skills and behavioral aspects, whereas within preschoolers, a significant improvement in adaptive skills emerged and was related to the subsistence of web-delivered intervention, parental work continuance, and online support during the lockdown.

scholarly journals High Resolution Magnetic Resonance Imaging for Characterization of the Neuroligin-3 Knock-in Mouse Model Associated with Autism Spectrum Disorder

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e109872 ◽  
Author(s):  
Manoj Kumar ◽  
Jeffery T. Duda ◽  
Wei-Ting Hwang ◽  
Charles Kenworthy ◽  
Ranjit Ittyerah ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Autism Spectrum Disorder ◽  
Magnetic Resonance ◽  
High Resolution ◽  
Mouse Model ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Resonance Imaging

scholarly journals Effect of Parent Training vs Parent Education on Behavioral Problems in Children With Autism Spectrum Disorder

JAMA ◽  
2015 ◽  
Vol 313 (15) ◽  
pp. 1524 ◽  
Author(s):  
Karen Bearss ◽  
Cynthia Johnson ◽  
Tristram Smith ◽  
Luc Lecavalier ◽  
Naomi Swiezy ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Parent Training ◽  
Parent Education ◽  
Behavioral Problems ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Callous-unemotional traits in youth with autism spectrum disorder (ASD): replication of prevalence estimates and associations with gaze patterns when viewing fearful faces

2020 ◽  
pp. 1-9
Author(s):  
Virginia Carter Leno ◽  
Rachael Bedford ◽  
Susie Chandler ◽  
Pippa White ◽  
Isabel Yorke ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Behavioral Problems ◽  
Reaction Times ◽  
Recognition Task ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Emotional And Behavioral Problems ◽  
Cu Traits ◽  
Fearful Faces ◽  
Callous Unemotional

Abstract Research suggests an increased prevalence of callous-unemotional (CU) traits in children with autism spectrum disorder (ASD), and a similar impairment in fear recognition to that reported in non-ASD populations. However, past work has used measures not specifically designed to measure CU traits and has not examined whether decreased attention to the eyes reported in non-ASD populations is also present in individuals with ASD. The current paper uses a measure specifically designed to measure CU traits to estimate prevalence in a large community-based ASD sample. Parents of 189 adolescents with ASD completed questionnaires assessing CU traits, and emotional and behavioral problems. A subset of participants completed a novel emotion recognition task (n = 46). Accuracy, reaction time, total looking time, and number of fixations to the eyes and mouth were measured. Twenty-two percent of youth with ASD scored above a cut-off expected to identify the top 6% of CU scores. CU traits were associated with longer reaction times to identify fear and fewer fixations to the eyes relative to the mouth during the viewing of fearful faces. No associations were found with accuracy or total looking time. Results suggest the mechanisms that underpin CU traits may be similar between ASD and non-ASD populations.

scholarly journals Emerging Executive Functioning and Motor Development in Infants at High and Low Risk for Autism Spectrum Disorder

2016 ◽  
Vol 7 ◽  
Author(s):  
Tanya St. John ◽  
Annette M. Estes ◽  
Stephen R. Dager ◽  
Penelope Kostopoulos ◽  
Jason J. Wolff ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Executive Functioning ◽  
Motor Development ◽  
Autism Spectrum ◽  
Low Risk ◽  
Spectrum Disorder

Language regression is associated with faster early motor development in children with autism spectrum disorder

2019 ◽  
Vol 13 (1) ◽  
pp. 145-156
Author(s):  
Liora Manelis ◽  
Gal Meiri ◽  
Michal Ilan ◽  
Hagit Flusser ◽  
Analya Michaelovski ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Motor Development ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Language Regression

Relationships Among Assessment Time, Time on Task, and Motor Skill Performance in Children With Autism Spectrum Disorder

2013 ◽  
Vol 30 (4) ◽  
pp. 338-350 ◽  
Author(s):  
Casey M. Breslin ◽  
Mary E. Rudisill
Keyword(s):  
Autism Spectrum Disorder ◽  
Motor Development ◽  
Total Duration ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Repeated Measure ◽  
Time On Task ◽  
Assessment Protocol ◽  
Assessment Time ◽  
Age Range

Twenty-two children (age range of 3.5–10.92 years old) with autism spectrum disorder (ASD) were assessed using the Test of Gross Motor Development (Second Edition; TGMD-2) using three different protocols. The total duration of assessment time and the percentage of time engaged in on-task behavior during the assessments were measured and analyzed using within-subjects repeated measure ANOVA designs to compare performance across the three protocols. Significant differences emerged across the duration of assessment time by assessment protocol, while no significant differences emerged for time on-task during the assessments by protocol used. In addition, correlations were calculated between the TGMD-2 scores and the duration of assessment time and the percentage of time on-task. An inverse relationship was found between TGMD-2 scores and total duration of assessment time by protocol used, (r = .726, .575, .686), while a positive relationship was found between the TGMD-2 scores and time on-task (r = -.570, -.535, -.798). These results suggest a direct relationship between skill proficiency and contextually appropriate behaviors.

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