scholarly journals Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Ron Nudel ◽  
Vivek Appadurai ◽  
Alfonso Buil ◽  
Merete Nordentoft ◽  
Thomas Werge
Keyword(s):  
Behavioral Disorders ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Genetic Variants ◽  
Asperger's Syndrome ◽  
Asperger’S Syndrome ◽  
Autism Spectrum ◽  
Childhood Autism ◽  
Genetic Overlap ◽  
Rare Genetic Variants

Abstract Background Language plays a major role in human behavior. For this reason, neurodevelopmental and psychiatric disorders in which linguistic ability is impaired could have a big impact on the individual’s social interaction and general wellbeing. Such disorders tend to have a strong genetic component, but most past studies examined mostly the linguistic overlaps across these disorders; investigations into their genetic overlaps are limited. The aim of this study was to assess the potential genetic overlap between language impairment and broader behavioral disorders employing methods capturing both common and rare genetic variants. Methods We employ polygenic risk scores (PRS) trained on specific language impairment (SLI) to evaluate genetic overlap across several disorders in a large case-cohort sample comprising ~13,000 autism spectrum disorder (ASD) cases, including cases of childhood autism and Asperger’s syndrome, ~15,000 attention deficit/hyperactivity disorder (ADHD) cases, ~3000 schizophrenia cases, and ~21,000 population controls. We also examine rare variants in SLI/language-related genes in a subset of the sample that was exome-sequenced using the SKAT-O method. Results We find that there is little evidence for genetic overlap between SLI and ADHD, schizophrenia, and ASD, the latter being in line with results of linguistic analyses in past studies. However, we observe a small, significant genetic overlap between SLI and childhood autism specifically, which we do not observe for SLI and Asperger’s syndrome. Moreover, we observe that childhood autism cases have significantly higher SLI-trained PRS compared to Asperger’s syndrome cases; these results correspond well to the linguistic profiles of both disorders. Our rare variant analyses provide suggestive evidence of association for specific genes with ASD, childhood autism, and schizophrenia. Conclusions Our study provides, for the first time, to our knowledge, genetic evidence for ASD subtypes based on risk variants for language impairment.

scholarly journals Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria

2020 ◽  
Vol 10 (7) ◽  
pp. 448
Author(s):  
Patricia Garcia Primo ◽  
Christoph Weber ◽  
Manuel Posada de la Paz ◽  
Johannes Fellinger ◽  
Anna Dirmhirn ◽  
...  
Keyword(s):  
Language Impairment ◽  
Parental Education ◽  
Asperger's Syndrome ◽  
Asperger’S Syndrome ◽  
Total Sample ◽  
Autism Spectrum ◽  
Developmental Surveillance ◽  
Migrant Background ◽  
Upper Austria ◽  
Parental Educational Level

This study explored (i) differences in age at Autism Spectrum Disorder (ASD) diagnosis between children with and without a migrant background in the main diagnostic centre for ASD in Upper Austria (ii) factors related to the age at diagnosis and (iii) whether specific factors differed between the two groups. A retrospective chart analysis included all children who received their first diagnosis before the age of 10 years (n = 211) between 2013 and 2018. Children with a migrant background were diagnosed 13 months earlier than those without (r = 0.278, p < 0.001), and had more severe delays in language, more severe autism, no Asperger’s syndrome, lower parental educational level and more frequent referrals by paediatricians. For the total sample, expressive language delay, severity of restricted and repetitive behaviours, higher nonverbal development, and paediatric referrals explained earlier diagnoses. There was a stronger effect of parental education and weaker effect of language impairment on age at ASD diagnosis in children with a migrant background. In conclusion, no delay in diagnosing ASD in children with a migrant background in a country with universal health care and an established system of paediatric developmental surveillance was found. Awareness of ASD, including Asperger’s syndrome, should be raised among families and healthcare professionals.

Behavioral disorders in children with specific language impairment

2021 ◽  
Vol 121 (5) ◽  
pp. 57
Author(s):  
L.S. Chutko ◽  
S.Yu. Surushkina ◽  
E.A. Yakovenko ◽  
T.I. Anisimova ◽  
D.V. Cherednichenko
Keyword(s):  
Behavioral Disorders ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Specific Language

scholarly journals Pragmatic versus structural difficulties in the production of pronominal clitics in French-speaking children with autism spectrum disorder

2018 ◽  
Vol 3 ◽  
pp. 239694151879964 ◽  
Author(s):  
Philippe Prévost ◽  
Laurice Tuller ◽  
Racha Zebib ◽  
Marie Anne Barthez ◽  
Joëlle Malvy ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
First Person ◽  
Specific Language ◽  
Third Person ◽  
Structural Language

Background and aims Impaired production of third person accusative pronominal clitics is a signature of language impairment in French-speaking children. It has been found to be a prominent and persistent difficulty in children and adolescents with specific language impairment. Previous studies have reported that many children with autism spectrum disorder also have low performance on these clitics. However, it remains unclear whether these difficulties in children with autism spectrum disorder are due to structural language impairment or to pragmatic deficits. This is because pragmatics skills, notoriously weak in children with autism spectrum disorder, are also needed for appropriate use of pronouns. Use of pronouns without clear referents and difficulty with discourse pronouns (first and second person), which require taking into account the point of view of one’s interlocutor (perspective shifting), have frequently been reported for autism spectrum disorder. Methods We elicited production of nominative, reflexive and accusative third and first person pronominal clitics in 19 verbal children with autism spectrum disorder (aged 6–12, high and low functioning, with structural language impairment, or with normal language) and 19 age-matched children with specific language impairment. If pragmatics is behind difficulties on these elements, performance on first-person clitics would be expected to be worse than performance on third person clitics, since it requires perspective shifting. Furthermore, worse performance for first person clitics was expected in the children with autism spectrum disorder compared to the children with specific language impairment, since weak pragmatics is an integral part of impairment in the former, but not in the latter. More generally, different error patterns would be expected in the two groups, if the source of difficulty with clitics is different (a pragmatic deficit vs. a structural language deficit). Results Similar patterns of relative difficulties were found in the autism spectrum disorder language impairment and specific language impairment groups, with third person accusative clitics being produced at lower rates than first-person pronouns and error patterns being essentially identical. First-person pronouns did not pose particular difficulties in the children with autism spectrum disorder (language impairment or normal language) with respect to third-person pronouns or to the children with specific language impairment. Performance was not related to nonverbal intelligence in the autism spectrum disorder group. Conclusions The elicitation task used in this study included explicit instruction, and focus on perspective shifting (both visual and verbal), allowing for potential pragmatic effects to be controlled. Moreover, the task elicited a variety of types of clitics in morphosyntactic contexts of varying complexity, providing ample opportunities for employment of perspective shifting, which may have also curtailed perseveration of third person over first person. These properties of the task allowed for the grammatical nature of children’s difficulties with third-person accusative clitics to emerge unambiguously. Implications Assessment of structural language abilities in children with autism spectrum disorder requires careful consideration of task demands. The influence of pragmatic abilities on structural language performance can be circumvented by making the pragmatic demands of the task explicit and salient. Filtering out this potential influence on structural language performance is fundamental to understanding language profiles in children with autism spectrum disorder and thus which children could benefit from which kinds of language intervention.

Identical Triplets with Asperger's Syndrome

1983 ◽  
Vol 143 (3) ◽  
pp. 261-265 ◽  
Author(s):  
Eyrena Burgoine ◽  
Lorna Wing
Keyword(s):  
Social Interaction ◽  
Asperger's Syndrome ◽  
Asperger’S Syndrome ◽  
Verbal Communication ◽  
Childhood Autism ◽  
Circumscribed Interests ◽  
Intellectual Impairment ◽  
Case Histories

SummaryThe case histories are presented of three 17 year old identical male triplets with Asperger's syndrome. They show the impairments affecting social interaction, non-verbal communication and imagination, the motor clumsiness, and the circumscribed interests characteristic of that condition. They also have some features in their history and present behaviour more typical of childhood autism. Despite marked overall similarities, the three differ in the severity with which their problems are manifested. A relationship can be found between the amount of peri- and post-natal trauma, degree of intellectual impairment and number of autistic features. The findings support the hypothesis that autism and Asperger's syndrome are on the same continuum of pathology.

Innocent Machines

2020 ◽  
pp. 83-107
Author(s):  
Elizabeth Fein
Keyword(s):  
Mental Illness ◽  
Moral Agency ◽  
Asperger's Syndrome ◽  
Asperger’S Syndrome ◽  
The United States ◽  
Autism Spectrum ◽  
Autism Spectrum Conditions ◽  
High Tech ◽  
Brain Science ◽  
Social Lives

Drawing on school-based ethnography in classrooms serving students with Asperger’s syndrome and related autism spectrum conditions in a district on the East Coast of the United States, this chapter analyzes how the meanings of these conditions are defined, negotiated, and deployed in consequential ways in contexts of everyday practice. The chapter begins by tracing schisms between “developmental disability” and “mental illness.” Through what Ian Hacking calls a “looping effect of human kinds,” students diagnosed with Asperger’s syndrome and related developmental disabilities come to exemplify a form of “brainhood,” a cerebral identity associated with replicable, quantified, and high-tech brain science. This schema is contrasted with local understandings of students classified with emotional or behavioral disturbance as changeable, morally culpable, and interpersonally engaged—thus exemplifying theories of mental illness as rooted in fluid brain chemistry and family dysfunction. The association of students with Asperger’s syndrome with a brain science seen as value-producing, mechanistic, and estranged from sociality wins them both a protected space and scarce material resources; however, this vision of Asperger’s students as “innocent machines” cannot effectively conceptualize the moral agency of their robustly social lives.

scholarly journals Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hidekazu Kato ◽  
Itaru Kushima ◽  
Daisuke Mori ◽  
Akira Yoshimi ◽  
Branko Aleksic ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Histone Methylation ◽  
Genetic Variants ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Gene Encoding ◽  
Rare Genetic Variants ◽  
Lysine Demethylase ◽  
Methylation Patterns ◽  
Sample Set

AbstractDysregulation of epigenetic processes involving histone methylation induces neurodevelopmental impairments and has been implicated in schizophrenia (SCZ) and autism spectrum disorder (ASD). Variants in the gene encoding lysine demethylase 4C (KDM4C) have been suggested to confer a risk for such disorders. However, rare genetic variants in KDM4C have not been fully evaluated, and the functional impact of the variants has not been studied using patient-derived cells. In this study, we conducted copy number variant (CNV) analysis in a Japanese sample set (2605 SCZ and 1141 ASD cases, and 2310 controls). We found evidence for significant associations between CNVs in KDM4C and SCZ (p = 0.003) and ASD (p = 0.04). We also observed a significant association between deletions in KDM4C and SCZ (corrected p = 0.04). Next, to explore the contribution of single nucleotide variants in KDM4C, we sequenced the coding exons in a second sample set (370 SCZ and 192 ASD cases) and detected 18 rare missense variants, including p.D160N within the JmjC domain of KDM4C. We, then, performed association analysis for p.D160N in a third sample set (1751 SCZ and 377 ASD cases, and 2276 controls), but did not find a statistical association with these disorders. Immunoblotting analysis using lymphoblastoid cell lines from a case with KDM4C deletion revealed reduced KDM4C protein expression and altered histone methylation patterns. In conclusion, this study strengthens the evidence for associations between KDM4C CNVs and these two disorders and for their potential functional effect on histone methylation patterns.

scholarly journals Intelligence Quotient Levels and Sub Tests Comparison in Autistic Children

2016 ◽  
Vol 5 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Vijay Kumar Sah ◽  
Hem Sagar Rimal ◽  
Archana Rimal
Keyword(s):  
Intelligence Quotient ◽  
Asperger's Syndrome ◽  
Asperger’S Syndrome ◽  
Statistical Significance ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Autistic Children ◽  
Intelligence Scale ◽  
Medical College ◽  
Social Reciprocity

Background Autism spectrum disorders (ASD) are disorders of neurodevelopmental origin characterized by social reciprocity deficits, communication deficits, and unusual restricted and repetitive behaviors. In some of these people, measured IQ (Intelligence Quotient) can be normal or even superior or low.Material and Methods This is a Retrospective study in autistic children. We have analyzed with autistic disorder, 47 patients had savant skills and 1 patients of MR (Mental Retardation) had savant skills. China- Wechsler Young Children Scale of Intelligence (C-WYCSI) and China-Wechsler Intelligence Scale for Children(C-WISC) were used for calculating IQ levels in different age groups.Results Asperger’s syndrome (AS) children had higher verbal IQ (VIQ) and full scale IQ (FSIQ) compared to autism and high functional autism (HFA) children with statistical difference. Autism children had lower VIQ, performance IQ and FSIQ compared to HFA and AS children with statistical significance. AS children had higher values in C-WISC and CWYCSI compared to autism children.Conclusion Children with Asperger’s syndrome have higher full IQ and Sub test IQ compared with autism and HFA children.Journal of Nobel Medical College Volume 5, Number 1, Issue 8, January-July 2016, 9-13 

scholarly journals Emotional Cognitive Assessment and Enhancement for Mentally Disabled People

2019 ◽  
Vol 15 (04) ◽  
pp. 88
Author(s):  
Samir Abou El-Seoud ◽  
Samaa A. Ahmed
Keyword(s):  
Asperger's Syndrome ◽  
Asperger’S Syndrome ◽  
Autism Spectrum ◽  
Human Beings ◽  
Mentally Disabled ◽  
The Social ◽  
Social Abilities ◽  
Mind Set ◽  
Develop Program ◽  
The Way

<p class="0BodyText">Autism spectrum syndrome well known as autism. Autism was delivered within the 1920s century especially in 1944. Autism is described as a development disease that influences the social abilities, nonverbal communication or what's called body language. Human beings with Autism and Asperger’s syndrome tends to have high IQ however very low EQ[1]. In addition, person who suffers autism has a tendency to have a specific habitual, aggressive reaction while converting this habitual. The Proposed concept is to develop an algorithm/method for growing emotional intelligence. The goal of the proposed concept is to assist human beings with Autism and Asperger’s syndrome that tends to have under common EI to approach normality [2]. The program will use the high IQ of the person to increase his/her EQ. To achieve this it is intended to develop program that refuse any miss behavior, or inappropriate mind-set. The advanced application acts like human, who will no longer accept to be treated in a particular manner. To enhance ones EI, people with autism ought to be taught on:</p><p class="0BodyText"> • A way to cope with people in a manner they would accept. </p><p class="0BodyText"> • The way to apprehend his/her emotion and accept it.</p><p class="0BodyText"> • The way to express their feelings. </p><p class="0BodyText"><br /> The goal of the evolved program is to help autism users be given human beings and be selves ordinary. The program ought to teach person how to make buddies in the real existence.</p>

scholarly journals Parental perception of stress and emotional-behavioural difficulties of children with autism spectrum disorder and specific language impairment

2020 ◽  
Vol 5 ◽  
pp. 239694152097150
Author(s):  
Magda Di Renzo ◽  
Federico Bianchi di Castelbianco ◽  
Elena Vanadia ◽  
Massimiliano Petrillo ◽  
Lidia Racinaro ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Language Impairment ◽  
Specific Language Impairment ◽  
Children With Autism ◽  
Well Being ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Sensory Profile ◽  
Control Group ◽  
Specific Language

Background and aims The daily challenges of caring for a child with autism spectrum disorder affect many areas of everyday life and parental well-being, as well as parents’ ability to manage the needs of the family and the child concerned. A better understanding of parents’ perception of their child’s characteristics can allow better support for them and individualize intervention protocols in a more accurate way. The main objective of this study is the evaluation of the perception of stress by parents of children with autism compared to parents of children with specific language impairment. Methods The parents of 87 children aged between 2 and 6 years were included in this study, 34 children with a specific language impairment diagnosis and 53 children with an autism spectrum disorder diagnosis (ASD) or at risk of developing it. They were asked to complete a self-report on perceived stress and rating scales on adaptive/problematic behaviours, executive functions and sensory profile of the child. Results The results reveal that parents of ASD children, compared to the control group, showed significantly higher levels of stress, mainly due to the difficulty of managing unexpected events, the feeling of loss of control over one's life and the fear of not being able to cope with the adversities they were experiences. The most critical area, both for ASD and control group, concern the executive function related to emotional reactions. Conclusions Thus, we argue that the difficulties in self-control, sensory modulation and emotional regulation, represent an element of stress for parents of children with developmental disorders. Implications: Regarding the difficulties of children with ASD, supporting the ways in which caregivers adapt to the signals of children is an important strategy, which has now become a key element of treatments for autism mediated by parents.

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