Broad Autism Phenotype In Parents Research Articles

Sex Differences in the Broad Autism Phenotype: Insights from the Australian Biobank.

Examining sub-threshold autistic traits in non-autistic first-degree relatives of individuals on the autism spectrum, known as the Broad Autism Phenotype (BAP), could provide new insights into the associations and familial aggregation of autistic traits. This study was a retrospective cross-sectional study of parents (n = 1008), probands with autism (n = 613), and unaffected siblings (n = 221) of probands with autism. BAP traits were examined by the BAP Questionnaire and Communication Checklist-Adult in parents, Autism Developmental Observation Scale-Second edition in probands, and Social Responsiveness Scale in siblings. Multivariable linear regression analyses were used to investigate the associations of parental BAP traits on autistic traits in probands and unaffected sibling BAP traits. Fathers showed significantly increased aloofness, pragmatic language difficulties, and social engagement problems compared to mothers. Female siblings showed increased difficulties with social cognition compared to male siblings. Adjusted models of the regression analyses showed that all BAP traits in fathers were significantly associated with BAP trait expression in probands with autism. Additionally, all of mother's BAP traits were significantly associated with unaffected siblings' BAP trait expression while only fathers' aloofness and rigidity traits were inversely associated with siblings' BAP trait expression. Finally, there were significant inverse interactions noted between parent's BAP traits and their children's BAP trait expression. This study demonstrated differences in how males and females express BAP traits and also identified differences in parent-child associations by sex, with fathers having a greater effect on their proband children's expression of BAP traits than mothers.

Does broad autism phenotype traits effect mother-child interaction?: a cross-sectional study from Turkey

Objectives Broad Autism Phenotype (BAP) is defined as personality, social, and language features that parallel the defining behavioral characteristics of autism spectrum disorder, including social deficits, communication abnormalities, and stereotyped repetitive behavior. The objective of this study was to assess the impact of maternal BAP characteristics on the dynamic interaction between mothers and their children. Methods Children aged 12–60 months who were referred to the Infant Mental Health Unit of our outpatient clinic were analyzed. Forty-one children who were diagnosed with autism and 35 children who were diagnosed with global developmental delay (GDD) and their mothers were included in the study. The Parent–Infant Relationship Global Assessment Scale (PIR-GAS), Autism-Spectrum Quotient (ASQ), Parental Acceptance–Rejection Questionnaire, and Recognition of Emotional Maltreatment Scale (REMS) were used. Results The PIR-GAS score was significantly lower in the autism group than in the GDD group, and mothers of children with autistic children exhibited higher BAP scores. Conclusions Our study suggests a link between maternal BAP scores and the quality of mother-child relationships. Further studies are needed to examine and improve our ability to evaluate the effects of parental BAP in terms of parental intervention effectiveness.

Brief report: The impact of the broad autism phenotype on parent perception of autism symptoms in their children with and without autism spectrum disorder compared to teachers

BackgroundEvaluation of children with autism spectrum disorder (ASD) includes caregiver-reported rating scales of symptom presentation. The extent to which a broad autism phenotype (BAP) in parents of children with ASD might impact their endorsement of autism symptoms in their children with and without ASD has not been well evaluated. AimsThis study analyzed whether varying degrees of parental BAP were associated with reported autism symptoms in offspring with and without ASD. Methods and ProceduresWe used the Broad Autism Phenotype Questionnaire as a measure of BAP in parents and parent- and teacher-report on the Social Responsiveness Scale (SRS) to assess autism symptoms in children with ASD and their typically developing (TD) siblings (N = 5714). We assessed the relationship between parental BAP and parent-teacher discordance. We compared teacher reports of autism symptoms in children with varying degrees of BAP exposure. Outcomes and ResultsMothers with higher levels of BAP over-reported autism symptoms in their children (compared to teachers) than mothers with lower BAP. TD children from parents with greater BAP displayed more autism symptoms than children from households with less BAP. Conclusions and ImplicationsBAP is associated with parent report of autism symptoms when compared to teacher report. For children with ASD, it is possible that differences in ratings reflect parent perception and not autism symptomatology; whereas, TD children from households with higher levels of BAP exposure showed more phenotypic autism symptom presentation on teacher-completed measures. Researchers and clinicians should consider BAP when interpreting caregiver and teacher reports.

What Exactly Is Inherited in Autism?

What Exactly Is Inherited in Autism?

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

Introduction: 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. Methods: 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. Results: Obtained data was analyzed with the t 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. Conclusion: These findings indicate the value of a detailed assessment of BAP in parents of children with developmental disorders.

The Empathizing-Systemizing Theory and 'Extreme Male Brain' (EMB) Theory in Parents of Children with Autism Spectrum Disorders (ASD): An Explorative, Cross-Sectional Study.

The aim of this study was to evaluate whether empathizing and systemizing are part of the parental broad autism phenotype (BAP). Parents (N = 76) of preschool children with a diagnosis of ASD and parents (N = 48) of typically developing (TD) children completed the Empathy Quotient (EQ) and Systemizing Quotient-Revised (SQ-R) questionnaires. The E-S discrepancy (D score) was used to test for sex differences in five "brain types". Our results suggest that the E-S theory do not seem to be part of the BAP. However, a stronger drive to systemize than empathize (Type S brain) could be a highly inheritable cognitive endophenotype of mothers of children with ASD. This study should be repeated with a larger sample size.

Commentary: Parental Broad Autism Phenotype and the Language Skills of Children with Autism Spectrum Disorder

In considering how best to implement parent-delivered communication interventions for young children with autism spectrum disorder (ASD), there is a growing body of evidence supporting the need to examine children’s pre-treatment factors (e.g., verbal skills, joint attention skills, imitation skills) as potentially influential variables on intervention efficacy

Broader autism phenotype in parents of children with autism: a systematic review of percentage estimates.

The broader autism phenotype (BAP) is a collection of sub-diagnostic autistic traits more common in families of individuals with autism spectrum disorder (ASD) than in the general population. BAP is a latent construct that can be defined using different domains, measured using multiple instruments, and reported using different techniques. Therefore, estimates of BAP may vary greatly across studies. Our objective was to systematically review studies that reported occurrence of BAP in parents of children with ASD in order to quantify and describe heterogeneity in estimates. We systematically searched PubMed and Scopus using PRISMA guidelines for studies quantifying percentage of parents of children with ASD who had BAP We identified 41 studies that measured BAP in parents of children with ASD. These studies used eight different instruments, four different forms of data collection, and had a wide range of sample sizes (N=4 to N=3299). Percentage with BAP ranged from 2.6% to 80%. BAP was more prevalent in fathers than mothers. Parental BAP may be an important tool for parsing heterogeneity in ASD etiology and for developing parent-mediated ASD interventions. However, the variety in measurement instruments and variability in study samples limits our ability to synthesize estimates. To improve measurement of BAP and increase consistency across studies, universal methods should be accepted and adopted across studies. A more consistent approach to BAP measurement may enable efficient etiologic research that can be meta-analyzed and may allow for a larger evidence base that can be used to account for BAP when developing parent-mediated interventions.

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

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.

Parental Broad Autism Phenotype and the Language Skills of Children with Autism Spectrum Disorder

Father-child and mother-child interactions were examined in order to investigate concurrent associations between three characteristics of parental broad autism phenotype (i.e., aloofness, rigidity, pragmatic language deficits), parental verbal responsiveness, and language skills of children with ASD. Results for mothers indicated that aloofness and rigidity were negatively associated with both child-initiated engagement and child language skills. Maternal aloofness was also negatively correlated with verbal responsiveness to their children, but rigidity was not. Results suggest that the association between aloofness and child language are potentially mediated by maternal use of responsive verbal behaviors. Maternal pragmatic language deficits were not concurrently related to child-initiated engagement or language skills. In contrast, for fathers, aloofness and rigidity were unrelated to child-initiated engagement and language skills. Paternal pragmatic deficits were also not associated with child language, however significant positive associations were found between paternal pragmatic language deficits and frequency of child-initiated engagement. Results are discussed in reference to potential clinical implications and directions for future research.

Predictors of Mental Health in Chinese Parents of Children with Autism Spectrum Disorder (ASD).

The aim of this study was to explore the influence of parental intolerance of Uncertainty (IU), sensory sensitivity (SS) and Broader Autism Phenotype (BAP), as well as the severity of their children's autism symptoms and co-morbid symptoms, on the mental health of Chinese parents of children with autism spectrum disorder (ASD). One hundred and twenty-two parents (86.9% mothers; M age = 35.64years, SD = 4.21) of children with ASD took part. Regression and mediation analyses showed that children's internalizing difficulties, parental BAP and IU had a direct effect, and SS had an indirect effect through IU, on parental mental health. We did not find a significant relationship between parental mental health and children's ASD severity. Our findings emphasise the need to focus on parental traits when considering their well-being and mental health, and have implications for the design of evidence-based services to support the needs of parents.

Measuring the relationship between the parental Broader Autism Phenotype, parent–child interaction, and children’s progress following parent mediated intervention

Parents of children with ASD may show ASD type behaviours including particular social communication interaction styles—the Broader Autism Phenotype (BAP). Understanding the potential impact of defined parent characteristics may be relevant when designing and evaluating the efficacy and effectiveness of parent-mediated interventions. In this proof of principle analysis, 18 mothers who had taken part in an early parent-mediated intervention later completed Family History Interviews. Parent data were split into lower and higher BAP groups. There was a significant negative correlation between BAP factor total scores and mother–child interaction total and post-intervention change scores. Change in number of words understood was significantly greater in children of mothers scoring in the lower BAP group compared with children of mothers in the higher BAP group. These preliminary findings provide some support for further investigation of parent BAP status as a potential moderator of the impact of early parent-mediated psychosocial interventions.

Broad autism phenotype features of Chinese parents with autistic children and their associations with severity of social impairment in probands

BackgroundParents of children with autism have higher rates of broad autism phenotype (BAP) features than parents of typically developing children (TDC) in Western countries. This study was designed to examine the rate of BAP features in parents of children with autism and the relationship between parental BAP and the social impairment of their children in a Chinese sample.MethodsA total of 299 families with autistic children and 274 families with TDC participated in this study. Parents were assessed using the Broad Autism Phenotype Questionnaire (BAPQ), which includes self-report, informant-report, and best-estimate versions. Children were assessed using the Chinese version of the Social Responsiveness Scale (SRS).ResultsParents of children with autism were significantly more likely to have BAP features than were parents of TDC; mothers and fathers in families with autistic children had various BAP features. The total scores of the informant and best-estimate BAPQ versions for fathers were significantly associated with their children’s SRS total scores in the autism group, whereas the total scores of the three BAPQ versions for mothers were significantly associated with their children’s SRS total scores in the TDC group. In the autism group, the total SRS scores of children with “BAP present” parents (informant and best-estimate) were higher than the total SRS scores of children with“BAP absent” parents. In the TDC group, the total SRS scores of children with “BAP present” parents were higher than the total SRS scores of children with“BAP absent” parents (best-estimate).ConclusionsParents of autistic children were found to have higher rates of BAP than parents of TDC in a sample of Chinese parents. The BAP features of parents are associated with their children’s social functioning in both autism families and TDC families, but the patterns of the associations are different.

When father doesn't know best: selective disagreement between self-report and informant report of the broad autism phenotype in parents of a child with autism.

The Broad Autism Phenotype Questionnaire (BAPQ) is a reliable tool for identifying three autism-related traits-social aloofness, pragmatic language abnormalities and rigid personality--within families of a person with autism and the general population. Although little is known concerning agreement between self-report and informant report versions of the BAPQ, identifying individual characteristics affecting agreement between the two can highlight important considerations for maximizing its yield, particularly when only one version is administered. Here, analysis of self-report and informant report of the BAPQ completed by 444 parents of a child with autism revealed moderate to strong agreement between the two versions for all three broad autism phenotype (BAP) traits when the self-reporting parent did not possess the trait being assessed. In contrast, disagreement selectively occurred when the assessed parent was positive for the BAP trait being rated. This pattern was driven primarily by fathers who were positive for a BAP trait endorsing lower levels of that trait relative to informant report. This discrepancy did not occur for mothers, nor did it occur for fathers lacking BAP traits. Because this pattern was specific to fathers positive for BAP traits, it likely reflects selective "blind spots" in their self-reporting and not poorer self-reporting by fathers more broadly, nor a general tendency of overreporting by informant mothers. The presence of BAP traits in informing parents, however, largely did not reduce agreement between self-report and informant report. In sum, self-report may underestimate the presence of BAP traits in fathers but is generally consistent with informant report for mothers.

Brief report: impact of child problem behaviors and parental broad autism phenotype traits on substance use among parents of children with ASD.

Using data from the Simons Simplex Collection, the present study examined the impact of child externalizing behavior and parental broad autism phenotype traits on substance use among parents of children with autism spectrum disorder (n = 2,388). For both fathers and mothers, child externalizing behaviors predicted tobacco use (OR = 1.01 and OR = 1.02, respectively), whereas rigidity increased risk of tobacco use for fathers (OR = 1.29) but not mothers. Additionally, among mothers, child externalizing behaviors increased risk of illegal substance use (OR = 1.04), whereas maternal rigidity decreased risk of alcohol use (OR = .83). Collectively, results suggest that child externalizing behaviors and parental rigidity may have differing impacts on the types of substances used by parents.

Recognition of emotional facial expressions and broad autism phenotype in parents of children diagnosed with autistic spectrum disorder

ObjectiveResearch findings debate about features of broad autism phenotype. In this study, we tested whether parents of children with autism have problems recognizing emotional facial expression and the contribution of such an impairment to the broad phenotype of autism. MethodSeventy-two parents of children with autistic spectrum disorder and 38 parents of control group participated in the study. Broad autism features was measured with Autism Quotient (AQ). Recognition of Emotional Face Expression Test was assessed with the Emotion Recognition Test, consisting a set of photographs from Ekman & Friesen’s. ResultsIn a two-tailed analysis of variance of AQ, there was a significant difference for social skills (F(1, 106)=6.095; p<.05). Analyses of variance revealed significant difference in the recognition of happy, surprised and neutral expressions (F(1, 106)=4.068, p=.046; F(1, 106)=4.068, p=.046; F(1, 106)=6.064, p=.016). ConclusionAccording to our findings, social impairment could be considered a characteristic feature of BAP. ASD parents had difficulty recognizing neutral expressions, suggesting that ASD parents may have impaired recognition of ambiguous expressions as do autistic children.

The broad autism phenotype in parents of individuals with autism: a systematic review of the literature.

The broad autism phenotype (BAP) is a milder manifestation of the defining symptoms of the syndrome in individuals without autism. This study conducted a systematic review of studies about behavioral characteristics of interpersonal relationships, communication and rigidity, as well as about three cognitive models, Theory of Mind, central coherence and executive function, in parents of individuals with autism. The indexed databases were LILACS, IBECS, Web of Science, and MEDLINE, and the studies retrieved were published between 1991 and March 2012. Parents of individuals with autism have more difficulties in interpersonal relationships and in pragmatic language use and have more rigidity traits. The inclusions of the cognitive theories in the group of BAP characteristics were inconclusive.

The broad autism phenotype predicts child functioning in autism spectrum disorders

BackgroundBroad autism phenotype (BAP) is a milder expression of the social and communication impairments seen in autism spectrum disorders (ASD). While prior studies characterized the BAP in unaffected family members of probands with ASD, the relationship between parental BAP traits and proband symptomatology remains poorly understood. This study utilizes the Broad Autism Phenotype Questionnaire (BAPQ) in parents and the Social Responsiveness Scale (SRS) in children to examine this connection. We hypothesized that in families affected by ASD, elevated maternal and paternal BAPQ scores would correlate with greater autism symptomatology in diagnosed children. In an extension of prior research, we also explored this relationship in families with typically developing children (TDC).MethodsTwo hundred and forty-five children with ASD, 129 TDC and all parents were recruited as part of a larger study investigating relationships between genes, brain and behavior. The Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS) and expert clinical judgment confirmed ASD diagnoses in children. SRS was collected for all children. Parents completed a self-report BAPQ and an informant report BAPQ for their spouse; an average of self-report and informant report for each parent was used in all analyses.ResultsMothers and fathers of children with ASD had significantly higher rates of BAP traits as compared to parents of TDC. Maternal and paternal BAPQ total scores were not correlated with child IQ in either group. In the ASD group, 10% of mothers and 21% of fathers scored above the established BAP threshold compared to 4% of TDC parents. Crude regression analyses showed that maternal and paternal BAPQ total scores accounted for significant variance in child SRS scores in both ASD (17.1%) and TDC (19.8%) families.ConclusionsOur results suggest that broad autism symptomatology in parents is moderately associated with their child’s autism symptomatology. This result extended to TDC families, suggesting that the BAPQ and SRS capture subtle, subclinical social variation in both children and adults. These findings could help define multi-generational social impairments in future phenotypic and genetic studies.

Parental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin

Relationships between parental broader autism phenotype (BAP) scores, gender, selective serotonin reuptake inhibitor (SSRI) treatment, serotonin (5HT) levels, and the child's symptoms were investigated in a family study of autism spectrum disorder (ASD). The Broader Autism Phenotype Questionnaire (BAPQ) was used to measure the BAP of 275 parents. Fathers not taking SSRIs (F-SSRI; n = 115) scored significantly higher on BAP Total and Aloof subscales compared to mothers not receiving treatment (M-SSRI; n = 136.) However, mothers taking SSRIs (M + SSRI; n = 19) scored higher than those not taking medication on BAP Total and Rigid subscales, and they were more likely to be BAPQ Total, Aloof, and Rigid positive. Significant correlations were noted between proband autism symptoms and parental BAPQ scores such that Total, Aloof, and Rigid subscale scores of F-SSRI correlated with proband restricted repetitive behavior (RRB) measures on the ADOS, CRI, and RBS-R. However, only the Aloof subscale score of M + SSRI correlated with proband RRB on the ADOS. The correlation between the BAPQ scores of mothers taking SSRIs and child scores, as well as the increase in BAPQ scores of this group of mothers, requires careful interpretation and further study because correlations would not withstand multiple corrections. As expected by previous research, significant parent-child correlations were observed for 5HT levels. However, 5HT levels were not correlated with behavioral measures. Study results suggest that the expression of the BAP varies not only across parental gender, but also across individuals using psychotropic medication and those who do not.

Autism and the broad autism phenotype: familial patterns and intergenerational transmission

BackgroundFeatures of the Broad Autism Phenotype (BAP) are disproportionately prevalent in parents of a child with autism, highlighting familial patterns indicative of heritability. It is unclear, however, whether the presence of BAP features in both parents confers an increased liability for autism. The current study explores whether the presence of BAP features in two biological parents occurs more frequently in parents of a child with autism relative to comparison parents, whether parental pairs of a child with autism more commonly consist of one or two parents with BAP features, and whether these features are associated with severity of autism behaviors in probands.MethodSeven hundred eleven parents of a child with an autism spectrum disorder and 981 comparison parents completed the Broad Autism Phenotype Questionnaire. Parents of a child with autism also completed the Social Communication Questionnaire.ResultsAlthough parental pairs of a child with autism were more likely than comparison parental pairs to have both parents characterized by the presence of the BAP, they more commonly consisted of a single parent with BAP features. The presence of the BAP in parents was associated with the severity of autism behaviors in probands, with the lowest severity occurring for children of parental pairs in which neither parent exhibited a BAP feature. Severity did not differ between children of two affected parents and those of just one.ConclusionsCollectively, these findings indicate that parental pairs of children with autism frequently consist of a single parent with BAP characteristics and suggest that future studies searching for implicated genes may benefit from a more narrow focus that identifies the transmitting parent. The evidence of intergenerational transmission reported here also provides further confirmation of the high heritability of autism that is unaccounted for by the contribution of de novo mutations currently emphasized in the field of autism genetics.