Pubmed du 10/08/20

lundi 10 août 2020

1. Capriola-Hall NN, McFayden T, Ollendick TH, White SW. Caution When Screening for Autism among Socially Anxious Youth. J Autism Dev Disord ;2020 (Aug 7)

Social anxiety disorder (SAD) is commonly comorbid with autism spectrum disorder (ASD). Here, in a sample of 86 children and adolescents (M(AGE) = 12.62 years ; 68.6% male), 28 of whom were diagnosed with ASD, 34 with SAD, and 24 with comorbid ASD and SAD, we compared parent-reported scores from the Social Responsiveness Scale-Second Edition (SRS-2 ; Constantino and Gruber in Social Responsiveness Scale (SRS ; Constantino and Gruber 2012) to determine the sensitivity and specificity of the measure in cases of differential diagnosis between SAD and ASD. Results suggest that neither the subscales, nor the SRS-2 total score, consistently differed between ASD and SAD. Sensitivity and specificity analyses suggested that the SRS-2 total poorly discriminated ASD from SAD. When screening socially anxious youth for possible ASD, caution should be taken.

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2. Chao OY, Pathak SS, Zhang H, Dunaway N, Li JS, Mattern C, Nikolaus S, Huston JP, Yang YM. Altered dopaminergic pathways and therapeutic effects of intranasal dopamine in two distinct mouse models of autism. Mol Brain ;2020 (Aug 10) ;13(1):111.

The dopamine (DA) system has a profound impact on reward-motivated behavior and is critically involved in neurodevelopmental disorders, such as autism spectrum disorder (ASD). Although DA defects are found in autistic patients, it is not well defined how the DA pathways are altered in ASD and whether DA can be utilized as a potential therapeutic agent for ASD. To this end, we employed a phenotypic and a genetic ASD model, i.e., Black and Tan BRachyury T(+)Itpr3(tf)/J (BTBR) mice and Fragile X Mental Retardation 1 knockout (Fmr1-KO) mice, respectively. Immunostaining of tyrosine hydroxylase (TH) to mark dopaminergic neurons revealed an overall reduction in the TH expression in the substantia nigra, ventral tegmental area and dorsal striatum of BTBR mice, as compared to C57BL/6 J wild-type ones. In contrast, Fmr1-KO animals did not show such an alteration but displayed abnormal morphology of TH-positive axons in the striatum with higher "complexity" and lower "texture". Both strains exhibited decreased expression of striatal dopamine transporter (DAT) and increased spatial coupling between vesicular glutamate transporter 1 (VGLUT1, a label for glutamatergic terminals) and TH signals, while GABAergic neurons quantified by glutamic acid decarboxylase 67 (GAD67) remained intact. Intranasal administration of DA rescued the deficits in non-selective attention, object-based attention and social approaching of BTBR mice, likely by enhancing the level of TH in the striatum. Application of intranasal DA to Fmr1-KO animals alleviated their impairment of social novelty, in association with reduced striatal TH protein. These results suggest that although the DA system is modified differently in the two ASD models, intranasal treatment with DA effectively rectifies their behavioral phenotypes, which may present a promising therapy for diverse types of ASD.

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3. Dupuis A, Moon MJ, Brian J, Georgiades S, Levy T, Anagnostou E, Nicolson R, Schachar R, Crosbie J. Concurrent Validity of the ABAS-II Questionnaire with the Vineland II Interview for Adaptive Behavior in a Pediatric ASD Sample : High Correspondence Despite Systematically Lower Scores. J Autism Dev Disord ;2020 (Aug 10)

We examined the correlation between interviewer-administered Vineland Adaptive Behavior Scale II (VABS-II) and the parent-rated Adaptive Behavior Assessment System II (ABAS-II) questionnaire in 352 participants (ages 1.5-20.8 years) with autism spectrum disorder (ASD) to determine if ABAS could be used as a screen to reduce the number of VABS interviews. Corresponding domain scores between the two measures were highly correlated but scores were significantly lower on the ABAS-II. Screening with ABAS-II significantly reduced the number of VABS-II interviews required with little cost to overall accuracy. The ABAS-II provides a cost- and time-saving alternative to the VABS-II to rule out functional impairment ; however, scores are not strictly comparable between the two measures.

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4. Ji-Xu A, Vincent A. Maternal Immunity in Autism Spectrum Disorders : Questions of Causality, Validity, and Specificity. J Clin Med ;2020 (Aug 10) ;9(8)

Autism spectrum disorders (ASD) are complex neurodevelopmental disorders with unknown heterogeneous aetiologies. Epidemiological studies have found an association between maternal infection and development of ASD in the offspring, and clinical findings reveal a state of immune dysregulation in the pre- and postnatal period of affected subjects. Maternal immune activation (MIA) has been proposed to mediate this association by altering fetal neurodevelopment and leading to autism. Although animal models have supported a causal link between MIA and development of ASD, their validity needs to be explored. Moreover, considering that only a small proportion of affected offspring develop autism, and that MIA has been implicated in related diseases such as schizophrenia, a key unsolved question is how disease specificity and phenotypic outcome are determined. Here, we have integrated preclinical and clinical evidence, including the use of animal models for establishing causality, to explore the role of maternal infections in ASD. A proposed priming/multi-hit model may offer insights into the clinical heterogeneity of ASD, its convergence with related disorders, and therapeutic strategies.

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5. Kozhuhov A, Tfilin M, Turgeman G, Ornoy A, Yanai J, Abookasis D. Implementation of a six-around-one optical probe based on diffuse light spectroscopy for study of cerebral properties in a murine mouse model of autism spectrum disorder. Appl Opt ;2020 (Aug 10) ;59(23):6809-6816.

Light reflectance spectroscopy (LRS) is a multispectral technique, sensitive to the absorption and scattering properties of biological molecules in tissues. It is used as a noninvasive tool to extract quantitative physiological information from human tissues and organs. A near-infrared LRS based on a single optical probe was used to monitor changes in optical and hemodynamic parameters in a mouse model of autism. A murine model of autism induced by developmental exposure to valproic acid (VPA) was used. Since autism could be attributed to neuroanatomical changes, we hypothesize that these changes can be detected using the LRS because spectral properties depend on both molecular composition and structural changes. The fiber-optic probe in the setup consisted of seven small optical fibers : six fibers for illumination placed in a circular manner around a central single collection fiber. Overall, measurements demonstrate changes in diffused reflectance spectra, cerebral optical tissue properties (absorption and scattering), and chromophore levels. Furthermore, we were able to identify differences between male and female groups. Finally, the effectiveness of S-Adenosylmethionine as a drug therapy was studied and found to improve the hemodynamic outcome. For the first time, to the best of our knowledge, the LRS is utilized to study variations in brain parameters in the VPA autism model mice through an intact scalp.

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6. Kubota M, Fujino J, Tei S, Takahata K, Matsuoka K, Tagai K, Sano Y, Yamamoto Y, Shimada H, Takado Y, Seki C, Itahashi T, Aoki YY, Ohta H, Hashimoto RI, Zhang MR, Suhara T, Nakamura M, Takahashi H, Kato N, Higuchi M. Binding of Dopamine D1 Receptor and Noradrenaline Transporter in Individuals with Autism Spectrum Disorder : A PET Study. Cereb Cortex ;2020 (Aug 7)

Although previous studies have suggested the involvement of dopamine (DA) and noradrenaline (NA) neurotransmissions in the autism spectrum disorder (ASD) pathophysiology, few studies have examined these neurotransmissions in individuals with ASD in vivo. Here, we investigated DA D1 receptor (D1R) and noradrenaline transporter (NAT) binding in adults with ASD (n = 18) and neurotypical controls (n = 20) by utilizing two different PET radioligands, [11C]SCH23390 and (S,S)-[18F]FMeNER-D2, respectively. We found no significant group differences in DA D1R (striatum, anterior cingulate cortex, and temporal cortex) or NAT (thalamus and pons) binding. However, in the ASD group, there were significant negative correlations between DA D1R binding (striatum, anterior cingulate cortex and temporal cortex) and the "attention to detail" subscale score of the Autism Spectrum Quotient. Further, there was a significant positive correlation between DA D1R binding (temporal cortex) and emotion perception ability assessed by the neurocognitive battery. Associations of NAT binding with empathic abilities and executive function were found in controls, but were absent in the ASD group. Although a lack of significant group differences in binding might be partly due to the heterogeneity of ASD, our results indicate that central DA and NA function might play certain roles in the clinical characteristics of ASD.

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7. Luo Y, Eran A, Palmer N, Avillach P, Levy-Moonshine A, Szolovits P, Kohane IS. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia. Nat Med ;2020 (Aug 10)

The promise of precision medicine lies in data diversity. More than the sheer size of biomedical data, it is the layering of multiple data modalities, offering complementary perspectives, that is thought to enable the identification of patient subgroups with shared pathophysiology. In the present study, we use autism to test this notion. By combining healthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identified a subgroup of patients with dyslipidemia-associated autism.

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8. Okazaki K, Ota T, Makinodan M, Kishimoto N, Yamamuro K, Ishida R, Takahashi M, Yasuda Y, Hashimoto R, Iida J, Kishimoto T. Associations of childhood experiences with event-related potentials in adults with autism spectrum disorder. Sci Rep ;2020 (Aug 10) ;10(1):13447.

Childhood maltreatment is defined as experiencing of physical, emotional and sexual abuse and neglect in childhood. Maltreatment in childhood leads to substantial psychosocial problems later in life in the general population. Individuals with autism spectrum disorder (ASD) have a higher risk of experiencing stressful and traumatic events, such as maltreatment, during childhood. Although childhood maltreatment reportedly leads to psychosocial problems in adults with ASD, the biological associations between childhood experiences and brain function in this population remain understudied. Here, we evaluated the relationships between childhood experiences and event-related potential (ERP) components during the auditory odd-ball task in adults with ASD (N = 21) and typically developed (TD) individuals (N = 22). We found that the higher the severity of sexual abuse, the larger the amplitude of P300 at Fz, Cz, C3, and C4 in individuals with ASD. Conversely, the severity of child maltreatment was associated with P300 latency at Cz and C3 in TD individuals. Moreover, full IQ was significantly associated with the MMN amplitude at Fz, Cz, C3, and C4 in TD individuals. These findings provide the first evidence that ERPs could be used to study the impacts childhood experiences on the brain of individuals with ASD and that childhood sexual abuse has salient impacts on brain function in this population.

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9. Rosario R, Anderson R. The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency : is it RNA or protein based ?. Mol Hum Reprod ;2020 (Aug 10)

The FMR1 gene contains a polymorphic CGG trinucleotide sequence within its 5’ untranslated region. More than 200 CGG repeats (termed a full mutation) underlie the severe neurodevelopmental condition fragile X syndrome, while repeat lengths that range between 55 and 200 (termed a premutation) result in the conditions fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated premature ovarian insufficiency (FXPOI). Premutations in FMR1 are the most common monogenic cause of POI and are routinely tested for clinically, however the mechanisms that contribute to the pathology are still largely unclear. As studies in this field move towards unravelling the molecular mechanisms involved in FXPOI aetiology, we review the evidence surrounding the two main theories which describe an RNA toxic gain-of-function mechanism, resulting in the loss of function of RNA-binding proteins, or a protein-based mechanism, where repeat-associated non-AUG (RAN) translation leads to the formation of an abnormal polyglycine containing protein, called FMRpolyG.

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10. Segers M, Bebko JM, Zapparoli BL, Stevenson RA. A pupillometry study of multisensory social and linguistic processing in autism and typical development. Dev Psychol ;2020 (Aug 10)

Autism spectrum disorder is a neurodevelopmental disorder that is characterized by impairments in social communication, restricted interests, and repetitive behaviors. Many studies have demonstrated atypical responses to audiovisual sensory inputs, particularly those containing sociolinguistic information. It is currently unclear whether these atypical responses are due to the linguistic nature of the inputs or the social aspect itself. Further, it is unclear how atypical sensory responses to sociocommunicative stimuli intersect with autism symptomatology. The current study addressed these outstanding questions by using pupillometry in mental age-matched children with and without autism (N = 71) to examine physiological responses to dynamic, audiovisual stimuli including social, sociolinguistic, socioemotional, and nonsocial stimuli, as well as to temporally manipulated stimuli. Data revealed group differences in pupillary responses with social stimuli but not nonsocial stimuli and, importantly, showed no variation through the inclusion of linguistic or emotional information. This suggests that atypical sensory responses are driven primarily by the inclusion of social information broadly. Further, individual responses to social stimuli were significantly correlated with a wide range of autism spectrum disorder symptomatology, including social communication, restricted interests and repetitive behaviors, and sensory processing issues. Pupillary responses to social but not nonsocial presentation were also capable of predicting diagnosis with a high level of selectivity, but only with marginal sensitivity. Finally, responses to the temporal manipulation did not yield any group differences, suggesting that while atypical multisensory temporal processing has been well documented in autism at the level of behavior and perception, these issues may be intact at the physiological level. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

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11. Sledziowska M, Kalbassi S, Baudouin SJ. Complex Interactions between Genes and Social Environment Cause Phenotypes Associated with Autism Spectrum Disorders in Mice. eNeuro ;2020 (Jul/Aug) ;7(4)

The etiology of autism spectrum disorders (ASDs) is a complex combination of genetic and environmental factors. Neuroligin3, a synaptic adhesion protein, and cytoplasmic FMR1 interacting protein 1 (CYFIP1), a regulator of protein translation and actin polymerization, are two proteins associated with ASDs that interact in neurons in vivo Here, we investigated the role of the Neuroligin3/CYFIP1 pathway in behavioral functioning and synapse formation in mice and found that it contributes to motor learning and synapse formation in males. Similar investigation in female mice revealed an absence of such phenotypes, suggesting that females are protected against mutations affecting this pathway. Previously, we showed that the social environment influences the behavior of male mice. We extended this finding and found that the transcriptome of wild-type mice housed with their mutant littermates, lacking Neuroligin3, differed from the transcriptome of wild-type mice housed together. Altogether, these results identify the role of the Neuroligin3/CYFIP1 pathway in male mouse behavior and highlight its sensitivity to social environment.

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12. Sorrell MR, Killian KA. Innate immune system function following systemic RNA-interference of the Fragile X Mental Retardation 1 gene in the cricket Acheta domesticus. J Insect Physiol ;2020 (Aug 10):104097.

Fragile X syndrome (FXS), caused by a mutation in the Fragile X Mental Retardation 1 (FMR1) gene, is a common form of inherited mental retardation. Mutation of the gene leads to a loss of the gene product Fragile X Mental Retardation Protein (FMRP). While a loss of FMRP has been primarily associated with neural and cognitive deficits, it has also been reported to lead to immune system dysfunction in both humans and flies. We used the Acheta domesticus transcriptome to identify a highly conserved cricket ortholog of FMR1 (adfmr1). We cloned a partial cDNA of adfmr1, used systemic RNA interference (RNAi) to knockdown adfmr1 expression, and examined the impact of this knockdown (KD) on the cellular and humoral responses of the insect innate immune system. Following RNAi, both male and female crickets exhibited an increase in the number of circulating hemocytes, a decrease in total hemolymph phenoloxidase (PO) activity, and an increase in fat body lysozyme expression. Despite similar changes in these immune parameters in both sexes, male and female crickets responded differently to an immune challenge. Most KD males failed to survive an intra-abdominal injection of bacterial lipopolysaccharide, while KD females were just as likely as control females to survive this challenge. Our results support that decreased fmr1 expression can alter the cellular and humoral defenses of the insect innate immune system, and may lead to a decrease in male, but not female, immunocompetence.

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13. Warrier V, Greenberg DM, Weir E, Buckingham C, Smith P, Lai MC, Allison C, Baron-Cohen S. Elevated rates of autism, other neurodevelopmental and psychiatric diagnoses, and autistic traits in transgender and gender-diverse individuals. Nat Commun ;2020 (Aug 7) ;11(1):3959.

It is unclear whether transgender and gender-diverse individuals have elevated rates of autism diagnosis or traits related to autism compared to cisgender individuals in large non-clinic-based cohorts. To investigate this, we use five independently recruited cross-sectional datasets consisting of 641,860 individuals who completed information on gender, neurodevelopmental and psychiatric diagnoses including autism, and measures of traits related to autism (self-report measures of autistic traits, empathy, systemizing, and sensory sensitivity). Compared to cisgender individuals, transgender and gender-diverse individuals have, on average, higher rates of autism, other neurodevelopmental and psychiatric diagnoses. For both autistic and non-autistic individuals, transgender and gender-diverse individuals score, on average, higher on self-report measures of autistic traits, systemizing, and sensory sensitivity, and, on average, lower on self-report measures of empathy. The results may have clinical implications for improving access to mental health care and tailoring adequate support for transgender and gender-diverse individuals.

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