1. Bora E, Aydin A, Sarac T, Kadak MT, Kose S. {{Heterogeneity of subclinical autistic traits among parents of children with autism spectrum disorder: Identifying the broader autism phenotype with a data-driven method}}. {Autism Res};2016 (Jul 7)
Clinical diagnosis of autism spectrum disorder (ASD) can be conceptualized as the extreme end of the distribution of subclinical autistic traits related to genetic susceptibility factors (broad autism phenotype (BAP)) in the general population. Subclinical autistic traits are significantly more common among unaffected first-degree relatives of probands with autism. However, there is a significant heterogeneity of autistic traits in family members of individuals with ASD and severity of autistic traits are not significantly different from controls in the majority of these relatives. The current study investigated the heterogeneity of autistic traits using latent class analysis (LCA) of the Autism Spectrum Quotient (AQ) ratings of 673 parents of children with ASD and 147 parents of typically developing children. Two distinct subgroups, including a « low-scoring » and a « high-scorer (BAP) » groups, were found. In comparison to control parents, a significantly larger proportion (21.1% vs. 7.5%) of parents of ASD were members of BAP group. Communication subscale made a distinctive contribution to the separation of high and low-scoring groups (d = 2.77). Further studies investigating neurobiological and genetic biomarkers and stability of these two subgroups over time are important for understanding the nature of autistic traits in the general population. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
2. Chakrabotri B, Verma D, Karmakar A, Jaiswal P, Sanyal A, Paul D, Sinha S, Singh AS, Guhathakurta S, Roychowdhury A, Panda CK, Ghosh S, Mohanakumar KP, Mukhophadhyay K, Rajamma U. {{Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males}}. {Prog Neuropsychopharmacol Biol Psychiatry};2016 (Jul 2)
Serotonergic system participates in various developmental processes and modulation of behaviour. Autism Spectrum Disorder (ASD) is characterized by a range of behavioral symptoms scaling from mild to severe. Abnormal 5-HT synthesis and signalling, platelet hyperserotonemia and amelioration of repetitive behaviours by SSRI are some of the key findings, which reinforced the hypothesis that serotonergic genes might act as ASD susceptible genes. Therefore, genes encoding monoamine oxidases A/B (MAOA/MAOB) received special attention as these genes are located on the X-chromosome and the gene products are responsible for 5-HT degradation. In the present study, we conducted population-based association analysis of eight markers of MAOB with ASD in a study cohort of 203 cases and 236 controls form India and examined its effect on platelet 5-HT content and behaviour. Gender-specific changes were observed for the contrasting LD between pair of markers among cases and controls. Case-control analysis demonstrated over-distribution of major C allele of rs2283728 and rs2283727 in male and female ASD cases respectively. Haplotypic distribution and interaction among markers showed more robust effect in male cases. Interestingly, male ASD cases displayed higher platelet 5-HT content in comparison to the respective controls. Quantitative trait analysis revealed significant correlation of genetic variants and haplotypes of MAOB markers, rs1799836 and rs6324 with increased platelet 5-HT level and CARS scores for specific behavioral symptoms respectively in males. This study suggests that MAOB increases ASD risk in males, possibly through its sex-specific regulatory effect on 5-HT metabolism and behavior.
Lien vers le texte intégral (Open Access ou abonnement)
3. English MC, Maybery MT, Visser TA. {{Threatening faces fail to guide attention for adults with autistic-like traits}}. {Autism Res};2016 (Jul 7)
Individuals diagnosed with autistic spectrum conditions often show deficits in processing emotional faces relative to neurotypical peers. However, little is known about whether similar deficits exist in neurotypical individuals who show high-levels of autistic-like traits. To address this question, we compared performance on an attentional blink task in a large sample of adults who showed low- or high-levels of autistic-like traits on the Autism Spectrum Quotient. We found that threatening faces inserted as the second target in a rapid serial visual presentation were identified more accurately among individuals with low- compared to high-levels of autistic-like traits. This is the first study to show that attentional blink abnormalities seen in autism extend to the neurotypical population with autistic-like traits, adding to the growing body of research suggesting that autistic-related patterns of behaviors extend into a subset of the neurotypical population. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
4. Fitzpatrick SE, Srivorakiat L, Wink LK, Pedapati EV, Erickson CA. {{Aggression in autism spectrum disorder: presentation and treatment options}}. {Neuropsychiatr Dis Treat};2016;12:1525-1538.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent difficulties in social communication and social interaction, coupled with restricted, repetitive patterns of behavior or interest. Research indicates that aggression rates may be higher in individuals with ASD compared to those with other developmental disabilities. Aggression is associated with negative outcomes for children with ASD and their caregivers, including decreased quality of life, increased stress levels, and reduced availability of educational and social support. Therapeutic strategies including functional behavioral assessment, reinforcement strategies, and functional communication training may have a significant impact in reducing the frequency and intensity of aggressive behavior in individuals with ASD. Pharmacologic treatments, particularly the use of second-generation antipsychotics, may also be of some benefit in reducing aggression in individuals with ASD. With the ever-increasing rate of ASD diagnosis, development of effective therapeutic and pharmacologic methods for preventing and treating aggression are essential to improving outcomes in this disorder.
Lien vers le texte intégral (Open Access ou abonnement)
5. Helsmoortel C, Swagemakers SM, Vandeweyer G, Stubbs AP, Palli I, Mortier G, Kooy RF, van der Spek PJ. {{Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder}}. {Am J Med Genet B Neuropsychiatr Genet};2016 (Jul 6)
Whole genome sequencing of a severely affected dizygotic twin with an autism spectrum disorder and intellectual disability revealed a compound heterozygous mutation in the HTR7 gene as the only variation not detected in control databases. Each parent carries one allele of the mutation, which is not present in an unaffected stepsister. The HTR7 gene encodes the 5-HT7 serotonin receptor that is involved in brain development, synaptic transmission, and plasticity. The paternally inherited p.W60C variant is situated at an evolutionary conserved nucleotide and predicted damaging by Polyphen2. A mutation akin to the maternally inherited pV286I mutation has been reported to significantly affect the binding characteristics of the receptor. Therefore, the observed sequence alterations provide a first suggestive link between a genetic abnormality in the HTR7 gene and a neurodevelopmental disorder. (c) 2016 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
6. James WH. {{The sex ratio of the sibs of probands diagnosed with autism}}. {J Theor Biol};2016 (Jul 7);400:154-157.
Lien vers le texte intégral (Open Access ou abonnement)
7. Popovitchenko T, Thompson K, Viljetic B, Jiao X, Kontonyiannis DL, Kiledjian M, Hart RP, Rasin MR. {{The RNA binding protein HuR determines the differential translation of autism-associated FoxP subfamily members in the developing neocortex}}. {Sci Rep};2016;6:28998.
Forkhead-box domain (Fox) containing family members are known to play a role in neocorticogenesis and have also been associated with disorders on the autism spectrum. Here we show that a single RNA-binding protein, Hu antigen R (HuR), dictates translation specificity of bound mRNAs and is sufficient to define distinct Foxp-characterized subpopulations of neocortical projection neurons. Furthermore, distinct phosphorylation states of HuR differentially regulate translation of Foxp mRNAs in vitro. This demonstrates the importance of RNA binding proteins within the framework of the developing brain and further confirms the role of mRNA translation in autism pathogenesis.
