scholarly journals Elevated polygenic burden for ASD is associated with the broad autism phenotype

2019 ◽  
Author(s):  
K. Nayar ◽  
J.M. Sealock ◽  
N. Maltman ◽  
L. Bush ◽  
E.H. Cook ◽  
...  
Keyword(s):  
Protective Factor ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Broad Autism Phenotype ◽  
Repetitive Behaviors ◽  
Pragmatic Language ◽  
Polygenic Scores ◽  
Genetic Overlap ◽  
Social Communicative ◽  
Autism Phenotype

AbstractBackgroundAutism spectrum disorder (ASD) is a multifactorial, neurodevelopmental disorder that encompasses a complex and heterogeneous set of traits. Subclinical traits that mirror the core features of ASD, referred to as the broad autism phenotype (BAP) have been documented repeatedly in unaffected relatives and are believed to reflect underlying genetic liability to ASD. The BAP may help inform the etiology of ASD by allowing the stratification of families into more phenotypically and etiologically homogeneous subgroups. This study explored polygenic scores related to the BAP.MethodsPhenotypic and genotypic information were obtained from 2,614 trios from Simons Simplex Sample. Polygenic scores of ASD (ASD-PGS) were generated across the sample to determine the shared genetic overlap between the BAP and ASD. Maternal and Paternal ASD-PGS was explored in relation to BAP traits and their child ASD symptomatology.ResultsMaternal pragmatic language was related to child’s social communicative atypicalities. In fathers, rigid personality was related to increased repetitive behaviors in children. Maternal (but not paternal) ASD-PGS was related to the pragmatic language and rigid BAP domains.ConclusionsDomain- and sex-specific associations emerged between parent and child phenotypes. ASD-PGS associations emerged with BAP in mothers only, highlighting the potential for a female protective factor, and implicating the polygenic etiology of ASD-related phenotypes in the BAP.

scholarly journals Brief Report: The Broad Autism Phenotype in Swedish Parents of Children With and Without Autism Spectrum Conditions

2021 ◽  
Author(s):  
Peter Bang ◽  
Maria Strömberg ◽  
Shoba S. Meera ◽  
Kajsa Igelström
Keyword(s):  
Psychometric Properties ◽  
Convergent Validity ◽  
Genetic Load ◽  
Autism Spectrum ◽  
Broad Autism Phenotype ◽  
Autism Spectrum Conditions ◽  
Pragmatic Language ◽  
Autistic Children ◽  
Autistic People ◽  
Autism Phenotype

AbstractThe broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the BAPQ into Swedish and examined its psychometric properties in a Swedish sample consisting of 45 parents of children with ASC and 74 parents of non-autistic children. We found support for the original 3-factor structure (aloof, pragmatic language and rigid), good internal consistency and convergent validity with the Autism Quotient. Thus, the Swedish BAPQ exhibits acceptable psychometric properties and may be useful for assessing the BAP in non-clinical populations.

Broad Autism Phenotype Traits in Parents of Children with Language Impairments: A Comparative Study

2021 ◽  
pp. 1-8
Author(s):  
Lavanya Kiruthika D. ◽  
Shivani Tiwari
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Developmental Disorders ◽  
Autism Spectrum ◽  
Broad Autism Phenotype ◽  
Self Report ◽  
Pragmatic Language ◽  
Diagnostic Features ◽  
Significant Difference ◽  
Autism Phenotype

<b><i>Introduction:</i></b> The broad autism phenotype (BAP) comprises milder language and cognitive deficits seen in the nonautistic relatives of individuals with autism. BAP represents the range of individuals with a higher number of these characteristics than average but a lower number than would point to a diagnosis of autism. The Broad Autism Phenotype Questionnaire (BAPQ) is one of the efficient and reliable tools to explore and measure BAP traits, namely, aloofness, pragmatic language, and rigid personality, which represent a few of the diagnostic features of autism. Against the background of positive familial history and common causes across the developmental disorders, this study aimed to compare BAP traits in the parents of children with autism spectrum disorder (ASD), specific language impairment (SLI), and social communication disorder (SCD) by means of the BAPQ. <b><i>Methods:</i></b> A total of 120 parents (60 mothers and 60 fathers) of children with ASD, SCD, and SLI participated in the study. All mothers filled in the self-report version and fathers filled in the informant version of BAPQ simultaneously in the communication intervention setting. <b><i>Results:</i></b> Obtained data was analyzed with the <i>t</i> test and ANOVA to compare self-ratings, informant ratings, and BAPQ scores across groups. The results of the study revealed no statistically significant difference for the overall BAPQ scores (except on the Pragmatic Language subscale). Furthermore, mothers in all 3 groups presented with BAP traits, with pragmatic language deficits being common. These observations point towards an overlap of BAP traits in the mothers of children with language disorders. <b><i>Conclusion:</i></b> These findings indicate the value of a detailed assessment of BAP in parents of children with developmental disorders.

scholarly journals Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Natasha Bertelsen ◽  
◽  
Isotta Landi ◽  
Richard A. I. Bethlehem ◽  
Jakob Seidlitz ◽  
...  
Keyword(s):  
Repetitive Behavior ◽  
Resting State Fmri ◽  
Neural Circuitry ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Typically Developing ◽  
Out Of Sample ◽  
Genetic Mechanisms ◽  
Social Communicative ◽  
The Eu

AbstractSocial-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97–99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

scholarly journals Mealtime Behaviors and Food Preferences of Students with Autism Spectrum Disorder

Foods ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 49
Author(s):  
Hae Jin Park ◽  
Su Jin Choi ◽  
Yuri Kim ◽  
Mi Sook Cho ◽  
Yu-Ri Kim ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Nutrition Education ◽  
Neurodevelopmental Disorder ◽  
Food Preferences ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Online Questionnaire ◽  
Mealtime Behavior ◽  
High Level

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of social communication and restrictive, repetitive behaviors or interests. This study aimed to examine the mealtime behaviors and food preferences of students with ASD. An online questionnaire on mealtime behavior and food preferences of ASD students was conducted by caregivers including parents, and the average age of ASD students was 14.1 ± 6.1. The analysis of mealtime behavior resulted in classification into three clusters: cluster 1, the “low-level problematic mealtime behavior group”; cluster 2, the “mid-level problematic mealtime behavior group”; and cluster 3, the “high-level problematic mealtime behavior group”. Cluster 1 included older students than other clusters and their own specific dietary rituals. Meanwhile, cluster 3 included younger students than other clusters, high-level problematic mealtime behavior, and a low preference for food. In particular, there were significant differences in age and food preference for each subdivided ASD group according to their eating behaviors. Therefore, the content and method of nutrition education for ASD students’ needs a detailed approach according to the characteristics of each group.

scholarly journals Longitudinal change in restricted and repetitive behaviors from 8-36 months

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Robin Sifre ◽  
Daniel Berry ◽  
Jason J. Wolff ◽  
Jed T. Elison
Keyword(s):  
Measurement Invariance ◽  
Factor Score ◽  
Developmental Change ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Higher Order ◽  
Repetitive Behaviors ◽  
Restricted And Repetitive Behaviors ◽  
Repetitive Motor ◽  
Over Time

Abstract Background Restricted and repetitive behaviors (RRBs) are core features of autism spectrum disorder (ASD) and one of the earliest behavioral signs of ASD. However, RRBs are also present in typically developing (TD) infants, toddlers, and preschool-aged children. Past work suggests that examining change in these behaviors over time is essential to distinguish between normative manifestations of these behaviors and behaviors that denote risk for a neurodevelopmental disorder. One challenge in examining changes in these behaviors over time is that most measures of RRBs have not established longitudinal measurement invariance. The aims of this study were to (1) establish measurement invariance in the Repetitive Behavior Scales for Early Childhood (RBS-EC), a parent-report questionnaire of RRBs, and (2) model developmental change in RRBs from 8 to 36 months. Methods We collected RBS-EC responses from parents of TD infants (n = 180) from 8 to 36 months (n = 606 responses, with participants contributing an average of 3-time points). We leverage a novel methodological approach to measurement invariance testing (Bauer, Psychological Models, 22(3), 507–526, 2017), moderated nonlinear factor analysis (MNLFA), to determine whether the RBS-EC was invariant across age and sex. We then generated adjusted factor score estimates for each subscale of the RBS-EC (repetitive motor, self-directed, and higher-order behaviors), and used linear mixed effects models to estimate between- and within-person changes in the RBS-EC over time. Results The RBS-EC showed some non-invariance as a function of age. We were able to adjust for this non-invariance in order to more accurately model changes in the RBS-EC over time. Repetitive motor and self-directed behaviors showed a linear decline from 8 to 36 months, while higher-order behaviors showed a quadratic trajectory such that they began to decline later in development at around 18 months. Using adjusted factor scores as opposed to unadjusted raw mean scores provided a number of benefits, including increased within-person variability and precision. Conclusions The RBS-EC is sensitive enough to measure the presence of RRBs in a TD sample, as well as their decline with age. Using factor score estimates of each subscale adjusted for non-invariance allowed us to more precisely estimate change in these behaviors over time.

scholarly journals Perceptions of Autism Spectrum Disorder (ASD) Etiology among Parents of Children with ASD

2021 ◽  
Vol 18 (13) ◽  
pp. 6774
Author(s):  
Wei-Ju Chen ◽  
Zihan Zhang ◽  
Haocen Wang ◽  
Tung-Sung Tseng ◽  
Ping Ma ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Content Analysis ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Parental Perceptions ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Structured Interviews ◽  
Children With Asd ◽  
Religious Factors

Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and restricted or repetitive behaviors. Parental perceptions of the etiology of their child’s ASD can affect provider–client relationships, bonding between parents and their children, and the prognosis, treatment, and management of children with ASD. Thus, this study sought to examine the perceptions of ASD etiology of parents of children with ASD. Methods: Forty-two parents of children diagnosed with ASD were recruited across Texas. Semi-structured interviews were conducted individually. All interviews were recorded and later transcribed verbatim for content analysis utilizing NVivo 12.0 (QSR International, Doncaster, Australia). Results: The content analysis identified the following themes regarding parental perceptions of ASD etiology: Genetic factors (40.5%), environmental factors (31.0%), problems that occurred during pregnancy or delivery (23.8%), vaccinations (16.7%), other health problems (7.1%), parental age at the time of pregnancy (4.8%), and spiritual or religious factors (2.4%). Conclusions: The parental perceptions of ASD etiology were diverse, but several views, such as vaccinations and spiritual or religious factors, were not based on scientific evidence. Health professionals and researchers can use these findings to develop and provide targeted education to parents who have children with ASD. Our findings also support policymakers in developing campaigns designed to increase parental ASD awareness and knowledge.

scholarly journals SENP1 in the retrosplenial agranular cortex regulates core autistic-like symptoms in mice

2021 ◽  
Author(s):  
Kan Yang ◽  
Yuhan Shi ◽  
Xiujuan Du ◽  
Yuefang Zhang ◽  
Shifang Shan ◽  
...  
Keyword(s):  
Social Interaction ◽  
De Novo ◽  
Fragile X ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Genetic Components ◽  
Truncating Mutation ◽  
Synaptic Functions ◽  
Core Symptoms

AbstractAutism spectrum disorder (ASD) is a highly heritable complex neurodevelopmental disorder. While the core symptoms of ASD are defects of social interaction and repetitive behaviors, over 50% of ASD patients have comorbidity of intellectual disabilities (ID) or developmental delay (DD), raising the question whether there are genetic components and neural circuits specific for core symptoms of ASD. Here, by focusing on ASD patients who do not show compound ID or DD, we identified a de novo heterozygous gene-truncating mutation of the Sentrin-specific peptidase1 (SENP1) gene, coding the small ubiquitin-like modifiers (SUMO) deconjugating enzyme, as a potentially new candidate gene for ASD. We found that Senp1 haploinsufficient mice exhibited core symptoms of autism such as deficits in social interaction and repetitive behaviors, but normal learning and memory ability. Moreover, we found that the inhibitory and excitatory synaptic functions were severely affected in the retrosplenial agranular (RSA) cortex of Senp1 haploinsufficient mice. Lack of Senp1 led to over SUMOylation and degradation of fragile X mental retardation protein (FMRP) proteins, which is coded by the FMR1 gene, also implicated in syndromic autism. Importantly, re-introducing SENP1 or FMRP specifically in RSA fully rescued the defects of synaptic functions and core autistic-like symptoms of Senp1 haploinsufficient mice. Taken together, these results elucidate that disruption of the SENP1-FMRP regulatory axis in the RSA may cause core autistic symptoms, which further provide a candidate brain region for therapeutic intervene of ASD by neural modulation approaches.

Young boy with social impairment and repetitive behaviors

2021 ◽  
pp. 1-10
Author(s):  
Sirin Ozdemir ◽  
Craig L. Donnelly
Keyword(s):  
Occupational Therapy ◽  
Speech Therapy ◽  
Behavioral Therapy ◽  
Neurodevelopmental Disorder ◽  
Neuropsychological Testing ◽  
Educational Interventions ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Social Impairment ◽  
Child Psychiatrist

Autism spectrum disorder (ASD) is a lifelong, highly heterogeneous neurodevelopmental disorder characterized by deficits in social communication and interaction as well as restricted, repetitive patterns of behavior, interests, or activities. The symptoms begin early in development but may not become apparent until social demands exceed abilities. The diagnostic assessment should include a medical assessment; evaluation by a clinician familiar with the signs/symptoms of ASD such as a developmental pediatrician, child psychiatrist, or child neurologist; neuropsychological testing to assess for comorbid intellectual disability; a speech and language evaluation; and an occupational therapy evaluation. There is no cure for ASD, but early diagnosis and intervention are associated with better functional outcomes. The treatment approach should be multidisciplinary and may include behavioral therapy, speech therapy, occupational therapy, and educational interventions. Pharmacologic treatment may be used to manage psychiatric comorbidities and maladaptive behaviors.

scholarly journals Linking Autism Risk Genes to Disruption of Cortical Development

Cells ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 2500
Author(s):  
Marta Garcia-Forn ◽  
Andrea Boitnott ◽  
Zeynep Akpinar ◽  
Silvia De Rubeis
Keyword(s):  
Large Scale ◽  
Association Studies ◽  
Neurodevelopmental Disorder ◽  
Cortical Development ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Genome Wide Association Studies ◽  
Restricted Interests ◽  
Risk Genes ◽  
Whole Exome

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by impairments in social communication and social interaction, and the presence of repetitive behaviors and/or restricted interests. In the past few years, large-scale whole-exome sequencing and genome-wide association studies have made enormous progress in our understanding of the genetic risk architecture of ASD. While showing a complex and heterogeneous landscape, these studies have led to the identification of genetic loci associated with ASD risk. The intersection of genetic and transcriptomic analyses have also begun to shed light on functional convergences between risk genes, with the mid-fetal development of the cerebral cortex emerging as a critical nexus for ASD. In this review, we provide a concise summary of the latest genetic discoveries on ASD. We then discuss the studies in postmortem tissues, stem cell models, and rodent models that implicate recently identified ASD risk genes in cortical development.

scholarly journals Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Tawny Tsang ◽  
Kristen Gillespie-Lynch ◽  
Ted Hutman
Keyword(s):  
Theory Of Mind ◽  
Language Skills ◽  
Broader Autism Phenotype ◽  
Cognitive Empathy ◽  
Autism Spectrum ◽  
School Age ◽  
Autism Symptoms ◽  
Children With Asd ◽  
Social Communicative ◽  
Autism Phenotype

Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD) are known as the broader autism phenotype (BAP). The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD) and dimensionally (as continuously distributed within the general population). The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM), adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental) or dimensionally (in terms of associations with autism symptoms across the entire sample). Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD.

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