Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism

Smith, Christopher J.; Lang, Colleen M.; Kryzak, Lauren A.; Reichenberg, Abraham; Hollander, Eric; Silverman, Jeremy M.

doi:10.1111/j.1469-7610.2009.02060.x

Cited by 55 publications

(58 citation statements)

References 27 publications

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“…Three sets of values were calculated for each parent: self-report scores, informant scores, and best-estimate scores (i.e., the average between selfreport and informant scores). The current findings regarding sex differences in the manifestations of BAP among parents of individuals with autism support prior findings on distinctive personality characteristics of fathers versus mothers of individuals with autism (Bishop et al 2004a;Murphy et al 2000;Scheeren and Stauder 2008;Smith et al 2009). In our sample, fathers of individuals with autism revealed significantly higher scores on aloofness (a diminished need for social interactions) compared to mothers, in line with other studies indicating that fathers of individuals with autism, as well as males in general, reveal difficulties in social skills and social responsiveness (Auyeung et al 2009;Losh et al 2008;Piven et al 1997b).…”

Section: Discussionsupporting

confidence: 85%

The Broad Autism Phenotype Questionnaire: Mothers Versus Fathers of Children with an Autism Spectrum Disorder

Seidman

Yirmiya

Milshtein

et al. 2011

J Autism Dev Disord

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Parents of individuals with autism were examined using the Broad Autism Phenotype Questionnaire (BAPQ; Hurley et al. in J Autism Dev Disord 37:1679-1690, 2007) assessing BAP-related personality and language characteristics. The BAPQ was administered to parents as a self-report and as an informant (spouse)-based measure. Results indicated the same pattern of differences for the informant and best-estimate (average between self-report and informant scores) reports. Fathers were rated as more "aloof" than mothers, whereas mothers were rated as more "rigid" than fathers. Fathers described their wives as less "aloof" and more "rigid" compared to the mothers' self-descriptions. Correlational analyses revealed no significant associations among parent/child characteristics and parents' BAPQ scores. Results are discussed in reference to sex differences in BAP-related characteristics in parents of children with autism.

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Section: Discussionsupporting

confidence: 85%

The Broad Autism Phenotype Questionnaire: Mothers Versus Fathers of Children with an Autism Spectrum Disorder

Seidman

Yirmiya

Milshtein

et al. 2011

J Autism Dev Disord

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“…Secondary analyses showed that these differences in the BEH domain were largely restricted to items measuring insistence on sameness/ritualistic types of repetitive stereotyped behaviors not the sensory motor kinds. This adds to the growing evidence that the higher and lower order types of repetitive stereotyped behaviors are different and may arise from different genetic mechanisms [Georgiades et al, 2007;Lam et al, 2008;Smith et al, 2009].We are not aware of any environmental factors that could explain the results reported here. We have derived these predictions based on a model of genetic heterogeneity and one of its subsets; the polygenic multifactorial model of sex-specific thresholds.…”

contrasting

confidence: 44%

“…In general, the female ASDs had lower BEH scores than the male ASDs (overall female vs. male P < 0.0001). The mean (and SE) BEH values are demonstrated in Figure 1 according to the type of affected individual.In a post-hoc analysis, we looked at the individual items making up the BEH domain and noted that it was largely items measuring the higher order ''insistence on sameness'' factor identified in several previous reports [Turner, 1999;Georgiades et al, 2007;Lam et al, 2008;Smith et al, 2009], not the lower order ''sensory motor'' behaviors, that showed these overall sex differences in mean scores. For example, females had lower scores on unusual preoccupations (P < 0.001), circumscribed interests (P ¼ 0.002), repetitive use of objects or interest in parts of objects (P ¼ 0.03), and the ''encompassing preoccupation or circumscribed pattern of interest'' subdomain total score (P < .001) (which is the sum of items ''unusual preoccupation'' and ''circumscribed interests'').…”

mentioning

confidence: 98%

Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability

Szatmári

Liu

Goldberg

et al. 2011

American J of Med Genetics Pt B

165

141

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The implications of the well known sex differences in the prevalence of autism spectrum disorder (ASD) are not well understood. The aim of this paper was to investigate whether these differences might be associated with differences in genetic liability. Individuals with ASD (970 families, 2,028 individuals) were recruited as part of the Autism Genome Project (AGP). The families were differentiated into families containing a female (either female-female or male-female) and those with only males. If the sex with the lower prevalence is associated with a greater genetic liability necessary to cross sex-specific thresholds, the males from female containing families should be more severely affected than males from male only families. Affected subjects from the different types of families with ASD were sampled and compared on the social reciprocity and repetitive behavior scores from the Autism Diagnostic Interview-Revised (ADI-R). In general, females had lower repetitive behavior scores than males. More importantly, males from female containing families had higher repetitive behavior scores than males from male-male families. No such differences were apparent on the social reciprocity scores. These results support the hypothesis of a multiple threshold model of genetic liability of ASD with females having a higher liability for affectation status, at least on the repetitive behavior dimension of the disorder. These data also support the dissociation of the different phenotypic dimensions of ASD in terms of its genetic architecture. The implications of these results for linkage and association studies are discussed.

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“…Finally, the repetitive behavior domain is quite diverse, including intense restricted interests, simple repetitive motor mannerisms, inflexible rituals or routines, or preoccupation with parts of objects, with each child only required to show two of these positive symptoms (American Psychiatric Association, 2000;Richler et al, 2007Richler et al, , 2010. Recent work in sibling pairs affected with autism suggests that individual symptom domains or sub-domains may be separately inherited, particularly in the case of repetitive behavior (Georgiades et al, 2007;Lam et al, 2008;Smith et al, 2009;Tadevosyan-Leyfer et al, 2003).…”

mentioning

confidence: 99%

Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments

Veenstra‐VanderWeele

Blakely

2011

Neuropsychopharmacol

110

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Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder affecting approximately 1% of children. ASD is defined by core symptoms in two domains: negative symptoms of impairment in social and communication function, and positive symptoms of restricted and repetitive behaviors. Available treatments are inadequate for treating both core symptoms and associated conditions. Twin studies indicate that ASD susceptibility has a large heritable component. Genetic studies have identified promising leads, with converging insights emerging from single-gene disorders that bear ASD features, with particular interest in mammalian target of rapamycin (mTOR)-linked synaptic plasticity mechanisms. Mouse models of these disorders are revealing not only opportunities to model behavioral perturbations across species, but also evidence of postnatal rescue of brain and behavioral phenotypes. An intense search for ASD biomarkers has consistently pointed to elevated platelet serotonin (5-HT) levels and a surge in brain growth in the first 2 years of life. Following a review of the diversity of ASD phenotypes and its genetic origins and biomarkers, we discuss opportunities for translation of these findings into novel ASD treatments, focusing on mTor-and 5-HT-signaling pathways, and their possible intersection. Paralleling the progress made in understanding the root causes of rare genetic syndromes that affect cognitive development, we anticipate progress in models systems using bona fide ASD-associated molecular changes that have the potential to accelerate the development of ASD diagnostics and therapeutics.

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Familial associations of intense preoccupations, an empirical factor of the restricted, repetitive behaviors and interests domain of autism

Abstract: The results support previous evidence for the IS factor, its familiality, and the identification of IP as an additional strong candidate trait for genetic studies of autism.

Cited by 55 publications

References 27 publications

The Broad Autism Phenotype Questionnaire: Mothers Versus Fathers of Children with an Autism Spectrum Disorder

The Broad Autism Phenotype Questionnaire: Mothers Versus Fathers of Children with an Autism Spectrum Disorder

Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability

Networking in Autism: Leveraging Genetic, Biomarker and Model System Findings in the Search for New Treatments

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