1. Abbeduto L, McDuffie A, Thurman AJ. {{The fragile X syndrome-autism comorbidity: what do we really know?}}. {Front Genet};2014;5:355.
Autism spectrum disorder (ASD) is a common comorbid condition in people with fragile X syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying psychological and neurobiological impairments in both FXS and non-syndromic ASD, which has led to the claim that targeted pharmaceutical treatments that are efficacious for core symptoms of FXS are likely to be beneficial for non-syndromic ASD as well. In contrast, we present evidence from a variety of sources suggesting that there are important differences in ASD symptoms, behavioral and psychiatric correlates, and developmental trajectories between individuals with comorbid FXS and ASD and those with non-syndromic ASD. We also present evidence suggesting that social impairments may not distinguish individuals with FXS with and without ASD. Finally, we present data that demonstrate that the neurobiological substrates of the behavioral impairments, including those reflecting core ASD symptoms, are different in FXS and non-syndromic ASD. Together, these data suggest that there are clinically important differences between FXS and non-syndromic ASD that are masked by reliance on the categorical diagnosis of ASD. We argue for use of a symptom-based approach in future research, including studies designed to evaluate treatment efficacy.
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2. Georgescu AL, Kuzmanovic B, Roth D, Bente G, Vogeley K. {{The use of virtual characters to assess and train non-verbal communication in high-functioning autism}}. {Front Hum Neurosci};2014;8:807.
High-functioning autism (HFA) is a neurodevelopmental disorder, which is characterized by life-long socio-communicative impairments on the one hand and preserved verbal and general learning and memory abilities on the other. One of the areas where particular difficulties are observable is the understanding of non-verbal communication cues. Thus, investigating the underlying psychological processes and neural mechanisms of non-verbal communication in HFA allows a better understanding of this disorder, and potentially enables the development of more efficient forms of psychotherapy and trainings. However, the research on non-verbal information processing in HFA faces several methodological challenges. The use of virtual characters (VCs) helps to overcome such challenges by enabling an ecologically valid experience of social presence, and by providing an experimental platform that can be systematically and fully controlled. To make this field of research accessible to a broader audience, we elaborate in the first part of the review the validity of using VCs in non-verbal behavior research on HFA, and we review current relevant paradigms and findings from social-cognitive neuroscience. In the second part, we argue for the use of VCs as either agents or avatars in the context of « transformed social interactions. » This allows for the implementation of real-time social interaction in virtual experimental settings, which represents a more sensitive measure of socio-communicative impairments in HFA. Finally, we argue that VCs and environments are a valuable assistive, educational and therapeutic tool for HFA.
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3. Hansen SN, Parner ET. {{Cohort effects explain the increase in autism diagnosis: an identifiability problem of the age-period-cohort model}}. {Int J Epidemiol};2014 (Oct 31)
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4. Hedley D, Brewer N, Young R. {{The Effect of Inversion on Face Recognition in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (Oct 31)
Face identity recognition has widely been shown to be impaired in individuals with autism spectrum disorders (ASD). In this study we examined the influence of inversion on face recognition in 26 adults with ASD and 33 age and IQ matched controls. Participants completed a recognition test comprising upright and inverted faces. Participants with ASD performed worse than controls on the recognition task but did not show an advantage for inverted face recognition. Both groups directed more visual attention to the eye than the mouth region and gaze patterns were not found to be associated with recognition performance. These results provide evidence of a normal effect of inversion on face recognition in adults with ASD.
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5. Jones RM, Cadby G, Blangero J, Abraham LJ, Whitehouse AJ, Moses EK. {{MACROD2 gene associated with autistic-like traits in a general population sample}}. {Psychiatr Genet};2014 (Dec);24(6):241-248.
There is now substantial evidence that autistic-like traits in the general population lie on a continuum, with clinical autism spectrum disorders (ASD) representing the extreme end of this distribution. In this study, we sought to evaluate five independently identified genetic associations with ASD with autistic-like traits in the general population. In the study cohort, clinical phenotype and genomewide association genotype data were obtained from the Western Australian Pregnancy Cohort (Raine) Study. The outcome measure used was the Autism Spectrum Quotient (AQ), a quantitative measure of autistic-like traits of individuals in the cohort. Total AQ scores were calculated for each individual, as well as scores for three subscales. Five candidate single nucleotide polymorphism (SNP) associations with ASD, reported in previously published genomewide association studies, were selected using a nominal cutoff value of P less than 1.0×10. We tested whether these five SNPs were associated with total AQ and the subscales, after adjustment for possible confounders. SNP rs4141463 located in the macro domain containing 2 (MACROD2) gene was significantly associated with the Communication/Mindreading subscale. No other SNP was significantly associated with total AQ or the subscales. The MACROD2 gene is a strong positional candidate risk factor for autistic-like traits in the general population.
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6. Keyes KM, Susser E, Cheslack-Postava K, Fountain C, Liu K, Bearman PS. {{Authors’ response to: Cohort effects explain the increase in autism diagnosis: an identifiability problem of the age-period-cohort model}}. {Int J Epidemiol};2014 (Oct 31)
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7. Marrus N, Underwood-Riordan H, Randall F, Zhang Y, Constantino JN. {{Lack of Effect of Risperidone on Core Autistic Symptoms: Data from a Longitudinal Study}}. {J Child Adolesc Psychopharmacol};2014 (Oct 31)
Abstract Objective: The purpose of this study was to investigate the course of autistic symptoms, using a quantitative measure of core autistic traits, among risperidone-treated children who participated in a 10 year life course longitudinal study. Methods: Parents completed surveys of intervention history, as well as serial symptom severity measurements using the Social Responsiveness Scale (SRS), on their autism spectrum disorder (ASD)-affected children. Fifty participants (out of a total of 184 with full intervention histories) were reported to have been treated with risperidone during the course of the study. Serial SRS scores during risperidone treatment were available for a majority of children whose parents reported a positive effect from risperidone. Results: Two thirds of risperidone-treated children (n=33) were reported by parents to have improved by taking the medication, with the principal effects described being that children were calmer, better focused, and less aggressive. SRS scores of children reported to have responded positively to risperidone did not improve over time. Conclusions: Risperidone’s beneficial effect on aggression and other elements of adaptive functioning were not necessarily accompanied by reduction in core ASD symptoms, as serially assessed by the same caregivers who reported improvement in their children. These results reflect the distinction between reduction in core symptom burden and improvement in adaptive functioning. Given the cumulative risks of atypical neuroleptics, the findings underscore the importance of periodic re-evaluation of medication benefit for children with ASD receiving neuroleptic treatment.
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8. Rai B, Sharif F. {{Genetic anticipation and autism}}. {Indian Pediatr};2014 (Oct 8);51(10):841-842.
9. Shumer DE, Roberts AL, Reisner SL, Lyall K, Austin SB. {{Brief Report: Autistic Traits in Mothers and Children Associated with Child’s Gender Nonconformity}}. {J Autism Dev Disord};2014 (Oct 31)
We examined relationships between autistic traits in children, mothers, and fathers and gender nonconformity (GNC) in children using data from the Nurses’ Health Study II and the Growing Up Today Study 1. Autistic traits of mothers, fathers and children were measured using the Social Responsiveness Scale (SRS). GNC in children was measured using questions from the Recalled Childhood Gender Identity/Gender Role Questionnaire. In multivariable analyses increase in child’s SRS score was associated with increased odds (OR 1.35; p = 0.03) of being in a higher GNC category. Increase in maternal SRS score was also associated with increased odds (OR 1.46; p = 0.005) of the child being in a higher GNC category. Paternal SRS scores were not related to child’s GNC category.
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10. Zielinski K, Wood JJ, Renno P, Whitham S, Sterling L. {{Examining the Validity of the Columbia Impairment Scale for Assessing Level of Functioning in Youth with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2014 (Oct 31)
Abstract Background: Youth with autism spectrum disorder (ASD) exhibit impairment in numerous areas of functioning, most notably in the areas related to social interactions, communication, and behavior at school and at home. Understanding the severity of the impairment in each of the domains associated with areas of functioning is imperative when evaluating the efficacy of an intervention, whether it be medical, therapeutic, or both. Objective: This study sought to examine the convergent and discriminant validity of the Columbia Impairment Scale (CIS) for youth with ASD, and their parents. Methods: A sample of 77 adolescents with ASD and their parents completed the CIS and various other measures that examined mood, anxiety, and behavior. Results: Although there was some evidence of convergent validity for the parent-report CIS, there was inadequate discriminant validity. The child-report version of the CIS yielded generally poor validity indices. Conclusions: There appear to be important limitations when using this measure for youth with ASD.
