scholarly journals Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

2019 ◽  
Author(s):  
Krysta J Trevis ◽  
Natasha J Brown ◽  
Cherie Green ◽  
Paul Lockhart ◽  
Peter Hickey ◽  
...  
Keyword(s):  
Adaptive Functioning ◽  
High Sensitivity ◽  
Broader Autism Phenotype ◽  
Structured Interview ◽  
Autism Spectrum ◽  
Genetic Studies ◽  
Autism Traits ◽  
Multiplex Families ◽  
Large Families ◽  
Autism Phenotype

AbstractFamilies comprising many individuals with Autism Spectrum Disorder (ASD) may carry a dominant predisposing mutation. Our aim was to use rigorous phenotyping of the ‘Broader Autism Phenotype’ (BAP) in large multiplex ASD families to identify endophenotypes of the BAP for future genetic studies. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 109 individuals, including two large multiplex families (Family A: 30; Family B: 34) and an independent sample of small families (n=45). Our protocol identified four psychological endophenotypes of the BAP that were evident in both samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. The patterns of inheritance of these endophenotypes varied in the two large families, supporting their utility for identifying genes in autism.

scholarly journals Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

2020 ◽  
Vol 21 (21) ◽  
pp. 7965
Author(s):  
Krysta J. Trevis ◽  
Natasha J. Brown ◽  
Cherie C. Green ◽  
Paul J. Lockhart ◽  
Tarishi Desai ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Adaptive Functioning ◽  
High Sensitivity ◽  
Broader Autism Phenotype ◽  
Structured Interview ◽  
Autism Spectrum ◽  
Autism Traits ◽  
Multiplex Families ◽  
Spectrum Disorders ◽  
Autism Phenotype

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the “Broader Autism Phenotype” (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families (n = 45). Our protocol identified four distinct psychological endophenotypes of the BAP that were evident across these independent samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. Patterns of inheritance of identified endophenotypes varied between the two large multiplex families, supporting their utility for identifying genes in ASD.

The trend of association between autism traits in mothers and severity of autism symptomatology in children

2020 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Asmita Karmakar ◽  
Manisha Bhattacharya ◽  
Jayeeta Adhya ◽  
Susmita Chatterjee ◽  
Atanu Kumar Dogra
Keyword(s):  
Theory Of Mind ◽  
Symptom Severity ◽  
Autistic Traits ◽  
Autism Spectrum ◽  
Genetic Liability ◽  
Content Type ◽  
Autism Traits ◽  
Autism Symptomatology ◽  
Autism Phenotype ◽  
Shared Genetic

Purpose Autism spectrum disorders (ASD) are heterogeneous disorders, and heterogeneity lies both at genetic and phenotypic levels. To better understand the etiology and pathway that may contribute to autism symptomatology, it is important to study milder expressions of autism characteristics – autistic traits or milder expressions of autism phenotype, especially in intergenerational context. This study aims to see the trend of association, if any, between child autism symptom and mothers’ autism phenotype as well as mothers’ theory of mind and to see if mothers’ theory of mind was associated with their own autistic traits. Design/methodology/approach Data were collected from 96 mothers of children with varying symptom severity of autism (mild, moderate and severe) using Autism Spectrum Quotient and faux pas recognition test. Analysis of variance, trend analysis and t-test were done. Findings Results showed a linear trend of relationship between mothers’ autism phenotype and child symptom severity. However, the groups did not have significant differences in theory of mind. Only a few components of theory of mind were found to be associated with autistic traits. These findings question the prevailing idea that theory of mind can be a reliable endophenotype of autism. Research limitations/implications There has been a lack of research assessing the possible link between parents’ autism phenotype and symptom severity of ASD children. This study is a preliminary step towards that direction. This study indicates a probability of shared genetic liability between mothers and offspring, which would have important consequences for understanding the mechanisms that lead to autism. Practical implications This study offers implications for treatment planning of those with clinical ASD. An awareness of parental factors is critical for any holistic intervention plan when a family seeks treatment for their child. This study suggests that while individualising interventions, clinicians may consider possible presence of high levels of autistic traits and related cognitive features present in the probands’ parents. Originality/value There has been lack of research assessing the possible link between parents’ autism phenotype and symptom severity of ASD children. This study, even though preliminary, is a step towards that direction. This study suggests that autism traits might be influenced by common genetic variation and indicates a probability of shared genetic liability between mothers and offspring, which would have important consequences for understanding the mechanisms that lead to autism.

The Broader Autism Phenotype in Simplex and Multiplex Families

2012 ◽  
Vol 43 (7) ◽  
pp. 1597-1605 ◽  
Author(s):  
Jennifer A. Gerdts ◽  
Raphael Bernier ◽  
Geraldine Dawson ◽  
Annette Estes
Keyword(s):  
Broader Autism Phenotype ◽  
Multiplex Families ◽  
Autism Phenotype

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.

Quantity-based reasoning in the broader autism phenotype: A web-based study

2018 ◽  
Vol 39 (6) ◽  
pp. 1373-1403 ◽  
Author(s):  
BOB VAN TIEL ◽  
MIKHAIL KISSINE
Keyword(s):  
Broader Autism Phenotype ◽  
Autism Spectrum ◽  
Autism Spectrum Quotient ◽  
Counterfactual Reasoning ◽  
Web Based ◽  
Autism Quotient ◽  
Pragmatic Inference ◽  
Autism Phenotype

ABSTRACTWe conducted a web-based study investigating whether the probability of deriving four types of pragmatic inferences depends on the degree to which one has traits associated with the autism spectrum, as measured by the autism spectrum quotient test (Baron-Cohen, Wheelwright, Skinner, Martin, & Clubley, 2001). In line with previous research, we show that, independently of their autism spectrum quotient, participants are likely to derive those pragmatic inferences that can be derived by reasoning solely about alternatives that the speaker could have used. However, if the derivation of the pragmatic inference draws upon more complex counterfactual reasoning about what the speaker could have said, the probability that it is derived decreases significantly with one’s autism quotient. We discuss the consequences for theories of pragmatics in autism and for linguistic theorizing in general.

Alteration in cortical processing of facial emotions in broader autism phenotype

2020 ◽  
Author(s):  
Patricia Soto-Icaza ◽  
Brice Beffara Bret ◽  
Lorena Vargas ◽  
Francisco Aboitiz ◽  
Pablo Billeke
Keyword(s):  
Spatial Frequency ◽  
Visual Pathway ◽  
Broader Autism Phenotype ◽  
Autism Spectrum ◽  
Source Analysis ◽  
Neuronal Marker ◽  
Facial Emotions ◽  
Spatial Frequencies ◽  
Lower Amplitude ◽  
Autism Phenotype

Broader Autism Phenotype (BAP) defines heritable features present in unaffected relatives of individuals with autism. BAP affects face perception, an impairment associated with the magnocellular (M) visual pathway that processes information of low spatial frequency and the parvocellular (P) visual pathway that processes information of high spatial frequency. Here we tested the hypothesis that parents of children with Autism Spectrum Disorder (pASD), who are BAP candidates, present altered M and P pathways integration for the processing of facial emotions information as compared to parents of typically developing children (pTD). For this end, we carried out electroencephalographic recordings in pTD and pASD, while they had to recognize emotions of face pictures composed by the same or different emotions (happiness or anger) presented in different spatial frequencies. We found no significant differences in the accuracy between groups but lower amplitude in a late frontoparietal potential activity, when happiness emotion was displayed in both spatial frequencies in pASD. Source analysis showed a difference in the right posterior part of the superior temporal region. These results reveal an alteration in brain processing of facial emotion in BAP that could be a neuronal marker of ASD.

scholarly journals Associations between parental broader autism phenotype and child autism spectrum disorder phenotype in the Study to Explore Early Development

Autism ◽  
2018 ◽  
Vol 23 (2) ◽  
pp. 436-448 ◽  
Author(s):  
Eric Rubenstein ◽  
Lisa D Wiggins ◽  
Laura A Schieve ◽  
Chyrise Bradley ◽  
Carolyn DiGuiseppi ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Developmental Delay ◽  
Early Development ◽  
Broader Autism Phenotype ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Motor Delay ◽  
Motor Behaviors ◽  
Repetitive Motor ◽  
Autism Phenotype

The autism spectrum disorder phenotype varies by social and communication ability and co-occurring developmental, behavioral, and medical conditions. Etiology is also diverse, with myriad potential genetic origins and environmental risk factors. Examining the influence of parental broader autism phenotype—a set of sub-clinical characteristics of autism spectrum disorder—on child autism spectrum disorder phenotypes may help reduce heterogeneity in potential genetic predisposition for autism spectrum disorder. We assessed the associations between parental broader autism phenotype and child phenotype among children of age 30–68 months enrolled in the Study to Explore Early Development (N = 707). Child autism spectrum disorder phenotype was defined by a replication of latent classes derived from multiple developmental and behavioral measures: Mild Language Delay with Cognitive Rigidity, Mild Language and Motor Delay with Dysregulation (e.g. anxiety/depression), General Developmental Delay, and Significant Developmental Delay with Repetitive Motor Behaviors. Scores on the Social Responsiveness Scale-Adult measured parent broader autism phenotype. Broader autism phenotype in at least one parent was associated with a child having increased odds of being classified as mild language and motor delay with dysregulation compared to significant developmental delay with repetitive motor behaviors (odds ratio: 2.44; 95% confidence interval: 1.16, 5.09). Children of parents with broader autism phenotype were more likely to have a phenotype qualitatively similar to broader autism phenotype presentation; this may have implications for etiologic research.

Investigation of Broad Autism Phenotype Traits as Measured by the 26-Item Autism Quotient

2018 ◽  
Vol 37 (3) ◽  
pp. 338-357 ◽  
Author(s):  
Amy Camodeca ◽  
Alexandra Hosack ◽  
Kylie Q. Todd
Keyword(s):  
Factor Model ◽  
Internal Consistency Reliability ◽  
Autism Spectrum ◽  
Broad Autism Phenotype ◽  
Self Report ◽  
Fit Indices ◽  
Autism Traits ◽  
Autism Quotient ◽  
Empathy Quotient ◽  
Autism Phenotype

The extant literature regarding psychometric properties of measures of subclinical adult autism traits is sparse. The current study investigated the validity and internal consistency reliability of the 26-item Autism Quotient (AQ-26), a self-report measure of autism traits, in a nonclinical young adult sample. Results indicated significantly better model fit with an 18-item measure (AQ-18), with optimal fit indices. Otherwise, AQ-18 and AQ-26 findings were similar and are discussed together. A three-factor model best fit the data. Scores demonstrated similar correlations in expected directions with the Empathy Quotient and Broad Autism Phenotype (BAP) Questionnaire. Expected differences were also observed when college major, gender, and BAP/non-BAP groups were compared. Despite somewhat weaker evidence for the 26/18-Details/Patterns factor, findings indicate that the AQ-26 and AQ-18 are promising measures of the three traits of subclinical autism spectrum symptomatology.

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