1. {{Study finds no link between MMR and autism}}. {Community Pract};2015 (Jun);88(6):4.
2. Braat S, D’Hulst C, Heulens I, De Rubeis S, Mientjes E, Nelson DL, Willemsen R, Bagni C, Van Dam D, De Deyn PP, Kooy RF. {{The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome}}. {Cell Cycle};2015 (Sep 17);14(18):2985-2995.
Previous research indicates that the GABAAergic system is involved in the pathophysiology of the fragile X syndrome, a frequent form of inherited intellectual disability and associated with autism spectrum disorder. However, the molecular mechanism underlying GABAAergic deficits has remained largely unknown. Here, we demonstrate reduced mRNA expression of GABAA receptor subunits in the cortex and cerebellum of young Fmr1 knockout mice. In addition, we show that the previously reported underexpression of specific subunits of the GABAA receptor can be corrected in YAC transgenic rescue mice, containing the full-length human FMR1 gene in an Fmr1 knockout background. Moreover, we demonstrate that FMRP directly binds several GABAA receptor mRNAs. Finally, positive allosteric modulation of GABAA receptors with the neurosteroid ganaxolone can modulate specific behaviors in Fmr1 knockout mice, emphasizing the therapeutic potential of the receptor.
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3. Brewer R, Marsh AA, Catmur C, Cardinale EM, Stoycos S, Cook R, Bird G. {{The impact of autism spectrum disorder and alexithymia on judgments of moral acceptability}}. {J Abnorm Psychol};2015 (Aug);124(3):589-595.
One’s own emotional response toward a hypothetical action can influence judgments of its moral acceptability. Some individuals with autism spectrum disorder (ASD) exhibit atypical emotional processing, and moral judgments. Research suggests, however, that emotional deficits in ASD are due to co-occurring alexithymia, meaning atypical moral judgments in ASD may be due to alexithymia also. Individuals with and without ASD (matched for alexithymia) judged the moral acceptability of emotion-evoking statements and identified the emotion evoked. Moral acceptability judgments were predicted by alexithymia. Crucially, however, this relationship held only for individuals without ASD. While ASD diagnostic status did not directly predict either judgment, those with ASD did not base their moral acceptability judgments on emotional information. Findings are consistent with evidence demonstrating that decision-making is less subject to emotional biases in those with ASD. (PsycINFO Database Record
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4. Carter Leno V, Charman T, Pickles A, Jones CR, Baird G, Happe F, Simonoff E. {{Callous-unemotional traits in adolescents with autism spectrum disorder}}. {Br J Psychiatry};2015 (Sep 17)
BackgroundPeople with callous-unemotional traits and also those with autism spectrum disorder (ASD) display sociocognitive difficulties. However, the frequency and neurocognitive correlates of callous-unemotional traits within individuals with ASD are unknown.AimsTo determine the prevalence of callous-unemotional traits in individuals with ASD and test their association with behavioural and cognitive measures.MethodParents of 92 adolescents with ASD completed the Antisocial Processes Screening Device (APSD) for callous-unemotional traits. Adolescents participated in tasks of emotion recognition, theory of mind and cognitive flexibility.ResultsIn total 51% (n = 47) scored above a cut-off expected to identify the top 6% on the APSD. Of these 17% (n = 8) had concurrent conduct problems. Regression analyses found callous-unemotional traits were associated with specific impairment in fear recognition but not with theory of mind or cognitive flexibility.ConclusionsAdolescents with ASD show high rates of callous-unemotional traits but, unlike in the general population, these are not strongly associated with conduct problems. The relationship of callous-unemotional traits to impairments in fear recognition suggests similar affective difficulties as in individuals with callous-unemotional traits without ASD.
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5. Cianfaglione R, Clarke A, Kerr M, Hastings RP, Oliver C, Felce D. {{Ageing in Rett syndrome}}. {J Intellect Disabil Res};2015 (Sep 16)
BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome across the age range and (1) conduct a cross-sectional comparison of age groups and (2) undertake a longitudinal follow-up. METHODS: From 308 potential participants approached to take part, a sample of 91 girls and women was achieved (29.5%). Their ages ranged from 4 to 47 years, and 71 were known to have a mutation in the methyl-CpG binding protein-2 (MECP2) gene. Seventy-two of the initial sample were followed up 16 months later, and 50 returned completed assessments (69.4%). Their ages ranged from 7 to 48 years, and 42 were MECP2 positive. Parental questionnaire measures of Rett syndrome specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. RESULTS: Adaptive behaviour and behavioural characteristics of Rett syndrome were similar across age groups and, where assessed, stable over time, as were repetitive behaviours generally and self-injury. There was some suggestion of deterioration in health arising with ageing, principally contributed to by deteriorations in dental and gastro-intestinal problems both with moderate effect sizes. Indicators of mood, interest and pleasure differed significantly across age groups. The total scale score significantly deteriorated over time, with a moderate effect size. CONCLUSIONS: This study provides further evidence for the post-regression stability that characterises Rett syndrome. Emergent low mood in Rett syndrome requires further research.
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6. Fairthorne J, Hammond G, Bourke J, de Klerk N, Leonard H. {{Maternal Psychiatric Disorder and the Risk of Autism Spectrum Disorder or Intellectual Disability in Subsequent Offspring}}. {J Autism Dev Disord};2015 (Sep 15)
Psychiatric disorders are more common in the mothers of children with autism spectrum disorder (ASD) or intellectual disability (ID) after the birth of their child. We aimed to assess the relationship between women’s psychiatric contacts and subsequent offspring with ASD/ID. We linked three Western Australian registers to investigate pre-existing maternal outpatient psychiatric contacts and the odds of ASD/ID in a subsequent child. Women with a previous outpatient psychiatric contact were more than twice as likely to have a child with ASD [OR 2.07 (95 % CI 1.7, 2.6)] or ID [OR 2.31 (2.1, 2.6)]. Further research exploring the effect on pregnancy outcomes of medications prescribed to women with psychiatric disorders is implicated.
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7. Gonzalez DA, Glazebrook CM, Lyons JL. {{The use of action phrases in individuals with Autism Spectrum Disorder}}. {Neuropsychologia};2015 (Sep 13);77:339-345.
Previous research has shown that individuals with Autism Spectrum Disorder (ASD) may be able to perceive the intentions of another individual through tool use (e.g., Aldridge et al., 2000; Gonzalez et al., 2013). However, it is not well understood how individuals with ASD respond to an indirect connection between an extrapolated action and the required object. To address this question, we employed action phrases that indirectly provided the contextual information about which object to use. Individuals with ASD, and sex and age matched typically developing peers, were asked to pick which object would be needed to complete the task described in a sentence displayed on a computer screen. Although individuals with ASD exhibited slower response times overall, their accuracy scores were comparable to typically developing individuals. The longer response times support the notion that individuals with ASD may have a harder time disengaging their initial perceived use for the object before considering other inherent action possibilities afforded by the object.
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8. Grove R, Baillie A, Allison C, Baron-Cohen S, Hoekstra RA. {{Exploring the quantitative nature of empathy, systemising and autistic traits using factor mixture modelling}}. {Br J Psychiatry};2015 (Sep 17)
BackgroundAutism research has previously focused on either identifying a latent dimension or searching for subgroups. Research assessing the concurrently categorical and dimensional nature of autism is needed.AimsTo investigate the latent structure of autism and identify meaningful subgroups in a sample spanning the full spectrum of genetic vulnerability.MethodFactor mixture models were applied to data on empathy, systemising and autistic traits from individuals on the autism spectrum, parents and general population controls.ResultsA two-factor three-class model was identified, with two factors measuring empathy and systemising. Class one had high systemising and low empathy scores and primarily consisted of individuals with autism. Mainly comprising controls and parents, class three displayed high empathy scores and lower systemising scores, and class two showed balanced scores on both measures of systemising and empathy.ConclusionsAutism is best understood as a dimensional construct, but meaningful subgroups can be identified based on empathy, systemising and autistic traits.
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9. Jamison TR, Schuttler JO. {{Examining social competence, self-perception, quality of life, and internalizing and externalizing symptoms in adolescent females with and without autism spectrum disorder: a quantitative design including between-groups and correlational analyses}}. {Mol Autism};2015;6:53.
BACKGROUND: Adolescent females with an autism spectrum disorder (ASD) are an understudied population, yet are also quite vulnerable, due to the increased complexities of social interaction and increased risk for internalizing symptoms in adolescence. Most research literature currently focuses on males with ASD, limiting our understanding of social experiences for females with ASD, and thus the potential to better inform supports and intervention to promote social-emotional functioning. This study examined similarities and differences in selected indicators of social-emotional health (social competence, self-perception, quality of life) and problematic behaviors such as externalizing and internalizing symptoms for adolescent females with and without ASD. METHODS: This study employed a quantitative design utilizing correlational analysis as well as t test comparisons to examine selected indicators of social-emotional health and problematic symptoms using the Social Skills Improvement System (SSIS), Youth Quality of Life Instrument (YQOL), and the Self-Perceptions Profile for Adolescents (SPPA) for adolescent females with ASD in relation to their typically developing peers. RESULTS: Significant differences were found between females with and without ASD in terms of their self-ratings of social-emotional health and problematic behaviors. The no-ASD group rated themselves higher across all areas of social-emotional health. Findings also suggest strong relationships between these constructs, especially for females without ASD. Parent reports of autism symptoms and social-emotional health indicated that as symptoms of autism are more severe, so too was the impact on individuals’ social competence. CONCLUSIONS: Adolescent females with ASD perceive themselves as having lower social competence, self-worth, and quality of life and higher levels of internalizing and externalizing symptoms as compared to their typically developing peers. Parent ratings indicate that higher levels of autism symptoms relate to lower levels of social competence. These findings lend support to the postulate that adolescent females with ASD are more vulnerable than their typically developing counterparts due to the compounded impact of ASD symptoms on social-emotional health and the higher risk for internalizing disorders for adolescent girls. Limitations and implications for further research and intervention are discussed.
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10. Jeste SS, Tuchman R. {{Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?}}. {J Child Neurol};2015 (Sep 14)
Autism spectrum disorders and epilepsy commonly co-occur. In this review, we consider some unresolved questions regarding the temporal relationship, causal mechanisms, and clinical stratification of this comorbidity, highlighting throughout the interplay between autism spectrum disorder, epilepsy, and intellectual disability. We present data on the clinical characterization of children with autism spectrum disorder and epilepsy, discussing distinctive phenotypes in children with this comorbidity. Although some distinctive clinical features emerge, this comorbidity also informs convergent pathways in genetic variants that cause synaptic dysfunction. We then move beyond diagnostic categorization and consider the extent to which electrophysiology as a quantitative biomarker may help guide efforts in clinical stratification and outcome prediction. Epilepsy, and atypical electrophysiological patterns, in autism spectrum disorder may inform the definition of biologically meaningful subgroups within the spectrum that, in turn, can shed light on potential targets for intervention.
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11. Ling TT, Sorrentino S. {{Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability}}. {Am J Med Genet A};2015 (Sep 16)
Alazami syndrome is an autosomal recessive disease characterized by primordial dwarfism, distinct dysmorphic features, and severe intellectual disability. Since it was first identified in a large consanguineous Arabic family in 2012, additional cases have not been published in the literature. We present a 2-year-old Northern European/Caucasian female with short stature, failure to thrive, and developmental delay. Whole exome sequencing (WES) identified two novel pathogenic variants in LARP7 (c.213_214dup and c.651_655del), indicating a diagnosis of Alazami syndrome. The case report describes a novel genotypic and phenotypic presentation of Alazami syndrome, contributing to the current knowledge of the condition as well as the expansion of differential diagnoses for growth restriction and intellectual disability. (c) 2015 Wiley Periodicals, Inc.
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12. Nagai Y, Uemura O, Kaneko T, Kanda Y, Gotoh Y, Nakagawa M, Uzuyama S, Nomura K, Iwasa M. {{Self-perception of children with Autism Spectrum Disorders in Japan}}. {Minerva Pediatr};2015 (Sep 17)
AIM: We aimed to evaluate self-perceived competence and self-esteem of primary school children with autism spectrum disorder (ASD) in Japan and compare to those of children with other chronic physical diseases and healthy controls. METHODS: Data were collected from 227 children: ASD (n=91), nephrotic syndrome (NS) (n=52) and asthma (n=84), using Children’s Perceived Competence Scale (CPCS) in 2012-2014. CPCS measures perceived competence in cognitive, social and physical domains, and a general self-worth domain as self-esteem. RESULTS: Scores in the social domain of the ASD group were lower than those of all other groups after adjusting for school age grades and gender. Scores of the ASD group negatively correlated with psychosomatic symptoms in all domains and IQ in the physical domain. CONCLUSION: These findings are the first data set in Japan on self-perceived competence and self-esteem in primary school children with ASD. Those results were comparable to previous researches in adolescents with ASD. Low social domain scores in the ASD group indicate the CPCS may be one of the useful tools to evaluate difficulty in social competence from the children’s point of view. Correlations between CPCS scores and psychosomatic symptoms in the ASD group suggest development of psychosomatic symptoms may be addressed early by attention to low scores, especially in general self-worth.
13. Singer L. {{Thoughts about sex and gender differences from the next generation of autism scientists}}. {Mol Autism};2015;6:52.
According to the CDC, males are four times more likely to be diagnosed with autism than females. New studies have shown that girls need a higher burden of genetic mutation to be diagnosed with autism than males. These findings are leading researchers to a new avenue of investigation called the female protective effect. This theory holds that even when females carry mutations in autism-linked genes, the effect of the mutations is prevented when the level of genetic disruption is low. Understanding the biology behind this protective effect and studying females independently from males could lead to major advancements in the prevention and treatment of ASD in both males and females.
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14. Yeung MK, Han YM, Sze SL, Chan AS. {{Abnormal Frontal Theta Oscillations Underlie the Cognitive Flexibility Deficits in Children With High-Functioning Autism Spectrum Disorders}}. {Neuropsychology};2015 (Aug 10)
OBJECTIVE: Deficits in cognitive flexibility have been suggested to underlie the repetitive and stereotyped behavior in individuals with autism spectrum disorders (ASD). Because cognitive flexibility is primarily mediated by the frontal lobe, where structural and functional abnormalities have been extensively found in these individuals, it is conceivable that their deficits in cognitive flexibility are related to abnormal activations of the frontal lobe. The present study investigates cognitive flexibility and its underlying neurophysiological activities as indicated by theta oscillations in children with ASD. METHOD: Twenty-five children with high-functioning ASD and 25 IQ- and age-matched typically developing (TD) children were subjected to neuropsychological assessments on cognitive flexibility and electroencephalography recordings. RESULTS: The children with ASD performed significantly worse than the TD children across the tasks of cognitive flexibility, including the modified Wisconsin Card Sorting Test (WCST). These children also demonstrated a reduced increase of the theta power localized in multiple brain regions, including various sectors of the frontal lobe at the late stage (i.e., 600 ms-900 ms poststimulus interval) but not the early stage (i.e., 250 ms-550 ms poststimulus interval) of the performance of the modified WCST. The suppressed late frontal theta activities were further shown to be significantly correlated with a poorer performance on the cognitive flexibility measures. CONCLUSION: Our findings suggest that abnormal activations of multiple cortical regions, especially the frontal lobe, form the neural basis of the cognitive flexibility deficits in children with ASD. In addition, we found an EEG marker of cognitive flexibility which could be used to monitor treatment outcomes objectively.
