218 research outputs found

    Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome: Rates of autism in fragile X syndrome

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    Prior research suggests that 60–74% of males and 16–45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting using gold standard diagnostic tools

    A Comparison of Pragmatic Language in Boys With Autism and Fragile X Syndrome

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    Impaired pragmatic language (i.e., language use for social interaction) is a hallmark feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most common known monogenic disorder associated with ASD. However, few cross-population comparisons of ASD and FXS have been conducted, and it is unclear whether pragmatic language profiles in these conditions overlap

    Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder

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    The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages. Youth with FXS without ASD and those with idiopathic ASD did not differ from controls. No sex differences were detected in any group. Findings contribute to current knowledge of pragmatic profiles in different forms of genetically-based neurodevelopmental disorders associated with intellectual disability, and the role of sex in the expression of such profiles

    Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links With Pragmatic Language

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    This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 28 with typical development (TD), aged 4–15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did not differ from boys with ASD. Dampened vagal tone predicted pragmatic impairment in ASD, and associations emerged between cardiac activity and receptive/expressive vocabulary across groups. Findings support autonomic dysfunction as a mechanism underlying pragmatic impairment in ASD and suggest that biophysiological profiles are shared in ASD and FXS, which has implications for understanding the role of fragile X mental retardation-1 (FMR1, the FXS gene) in the pathophysiology of ASD

    Sex differences and within-family associations in the broad autism phenotype

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    While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype (BAP). This study examined this question, and investigated patterns of co-occurrence of BAP traits within families of individuals with autism. Pragmatic language and personality features of the BAP were studied in 42 fathers and 50 mothers of individuals with autism using direct assessment tools used in prior family studies of the BAP. Higher rates of aloof personality style were detected among fathers, while no sex differences were detected for other BAP traits. Within individuals, pragmatic language features were associated with the social personality styles of the BAP in mothers but not fathers. A number of BAP features were correlated within spousal pairs. Finally, associations were detected between paternal BAP characteristics and the severity of children’s autism symptoms in all three domains (social, communication, and repetitive behaviors). Mother-child correlations were detected for aspects of communication only. Together, findings suggest that most features of the BAP express comparably in males and females, and raise some specific questions about how such features might inform studies of the genetic basis of autism

    Frieze s with a Polygonal Ornament in the Decoration of the Drums of Armenian Churches of the Late 12th —First Third of the 13th Centuries

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    Submitted: 28.11.2022. Accepted: 18.01.2024.Поступила в редакцию: 28.11.2022. Принята к печати: 18.01.2024.В статье рассматривается применение рельефного орнаментального фриза из переплетающихся многогранников в убранстве купольных барабанов армянских церквей начального периода Закаридской эпохи. В самом конце XII в. Армения освобождается от мусульманского ига. Это обстоятельство дает толчок бурному подъему строительной деятельности в восточных областях Армении со столицей в Ани, особенно в храмоздательстве. Новые памятники воздвигаются в духе национальной традиции, что особенно ярко проявляется в пластическом декоре экстерьера купольных барабанов. Автор предпринимает попытку выстроить хронологическую последовательность применения избранного орнамента во фризах купольных глав армянских храмов и приходит к выводу о первичном использовании орнаментальных фризов из шестигранников и восьмигранников в среде анийских памятников. Также отмечается одновременная популярность этих узоров в архитектуре соседнего государства анатолийских сельджуков, чья культурная деятельность в своем формировании теснейшим образом взаимосвязана с армянской. Возможные истоки проникновения орнаментального фриза из многогранников в купольные барабаны армянских церквей автор видит в кирпичной архитектуре Ирана и Средней Азии XI–XII вв. Резюмируя свои рассуждения, автор подчеркивает существование в армянском зодчестве задолго до исследуемой эпохи традиции убранства купольного барабана слепой аркатурой, увенчанной декоративным фризом, на примере Анийского собора, сыгравшего важную роль в сложении образа купольной главы армянского храма Закаридской эпохи.This article studies the use of relief ornamental frieze of intertwining polyhedrons in the decoration of dome drums of Armenian churches of the initial period of the Zakarid era. Following the liberation of the country from the Muslim yoke, in the Eastern Armenia regions and Ani, construction activity grew rapidly, especially in church building. New monuments were erected in the spirit of the national tradition, which is especially evident in the plastic decoration of the exterior of drums. The author tries to build a chronological sequence of the use of the ornament in the friezes of the domes of Armenian churches, which leads to the conclusion that ornamental friezes of hexagons and octagons were primarily used in Ani monuments. The author notes the simultaneous popularity of these patterns in the architecture of the neighbouring state of the Anatolian Seljuks, whose cultural activity in its formation is closely connected with the Armenian one. The author sees the possible origins of the ornamental frieze with a polygonal structure in the drums of Armenian churches in the brickwork architecture of the minarets of Iran and Central Asia from the eleventh and twelfth centuries. In summary, the author emphasizes the existence of the tradition of decorating drums with a blind arcade topped with a decorative frieze in Armenian architecture long before the era in question, referring to the Cathedral of Ani which played an important role in the formation of the image of domes of the Armenian churches of the Zakarid era.Исследование выполнено за счет гранта Российского научного фонда № 22-18-00354, https://rscf.ru/project/22-18-00354/, в Национальном исследовательском Московском государственном строительном университете (НИУ МГСУ).The study is supported by a grant of the Russian Science Foundation, project 22-18-00354, https://rscf.ru/project/22-18-00354/, in the National Research Moscow State University of Civil Engineering (NRU MGSU)

    Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study

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    Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of AS

    An Investigation of Narrative Ability in Boys with Autism and Fragile X Syndrome

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    Whereas pragmatic language difficulties are characteristic of both autism and Fragile X syndrome, it is unclear whether such deficits are qualitatively similar or whether certain skills are differentially affected. This study compared narrative competence in boys with autism, Fragile X syndrome, Down syndrome, and typical development. Results revealed that an interaction between diagnosis and nonverbal mental age predicted narrative microstructure (e.g., complex syntax) but not macrostructure (e.g., thematic maintenance). Correlations with FMR1-related variation were investigated in children with Fragile X syndrome. While CGG repeat length was associated with many language characteristics, nonverbal IQ appeared to mediate these relationships. These findings are an important step toward understanding narrative abilities in boys with and without the FMR1 mutation
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