Pubmed du 08/03/20

dimanche 8 mars 2020

1. Eisenhower A, Martinez Pedraza F, Sheldrick RC, Frenette E, Hoch N, Brunt S, Carter AS. Multi-stage Screening in Early Intervention : A Critical Strategy for Improving ASD Identification and Addressing Disparities. J Autism Dev Disord ;2020 (Mar 6)

Health disparities in ASD detection affect children’s access to subsequent interventions. We examined potential disparities in implementation of a multi-stage ASD screening and diagnostic evaluation protocol in Part C Early Intervention with 4943 children ages 14-36 months (mean 22.0 months ; 62.9% boys, 73.3% children of color, 34.9% non-English-primary language, 64.5% publicly-insured). Participation and follow-through were high (64.9% and 65.3% at first- and second-stage screening, respectively, 84.6% at diagnostic evaluation). Logistic regressions identified predictors of screening participation and outcomes at each stage ; demographic differences (race, language, public insurance) were observed only at first-stage screening and reflected higher participation for children of color and higher positive screens for publicly-insured children. Results suggest the multi-stage screening protocol shows promise in addressing disparities in early diagnosis.

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2. Kim JK, Jeong JE, Choi JM, Kim GH, Yoo HW. A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome. J Hum Genet ;2020 (Mar 6)

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability, especially in males. Females with FXS tend to be relatively mildly affected because of compensation by a second X chromosome with a normal FMR1 gene. In most cases, FXS is caused by an expansion of the CGG repeats (>200 triplets, full mutation, FM) in the 5’-untranslated region of the FMR1 gene. Premutation alleles (PM, 55-200 repeats), usually lack the clinical features of FXS, are highly unstable when transmitted to offspring and can give rise to FM, especially in female meiosis. We describe a 3-year-old girl with typical FXS, with only a fully expanded FMR1 allele (288 CGG repeats) due to uniparental isodisomy of X chromosome, inherited from mother carrying a premutation allele. The patient’s FMR1 methylation region is completely methylated due to full mutation of CGG repeat. This unusual and rare case indicates the importance of a detailed genomic approach to explain nontraditional Mendelian inheritance pattern.

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3. Li Y, Qiu S, Zhong W, Liu Y, Cheng Y. Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder. J Autism Dev Disord ;2020 (Mar 6)

Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case-control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC ; however, T-A haplotype (rs2229082-rs2270954), T-A-T-C haplotype (rs2229082-rs2270954-rs2292043-rs2292044), C-G-T-C-T haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043), C-G-T-C-T-G haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044), and G-G-T-C-C-C-C haplotype (rs934345-rs17753970-rs2229082-rs2270954-rs2292043-rs2292044-rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD.

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4. Lin A, Vajdi A, Kushan-Wells L, Helleman G, Hansen LP, Jonas RK, Jalbrzikowski M, Kingsbury L, Raznahan A, Bearden CE. Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder. Biol Psychiatry ;2020 (Jan 13)

BACKGROUND : 22q11.2 deletions and duplications are copy number variations (CNVs) that predispose to developmental neuropsychiatric disorders. Both CNVs are associated with autism spectrum disorder (ASD), while the deletion confers disproportionate risk for schizophrenia. Neurobehavioral profiles associated with these reciprocal CNVs in conjunction with brain imaging measures have not been reported. METHODS : We profiled the impact of 22q11.2 CNVs on neurobehavioral measures relevant to ASD and psychosis in 106 22q11.2 deletion carriers, 38 22q11.2 duplication carriers, and 82 demographically matched healthy control subjects. To determine whether brain-behavior relationships were altered in CNV carriers, we further tested for interactions between group and regional brain structure on neurobehavioral domains. RESULTS : Cognitive deficits were observed in both CNV groups, with the lowest IQs in deletion carriers. ASD and dimensionally measured ASD traits were elevated in both CNV groups ; however, duplication carriers exhibited increased stereotypies compared to deletion carriers. Moreover, discriminant analysis using ASD subdomains distinguished between CNV cases with 76% accuracy. Both psychotic disorder diagnosis and dimensionally measured positive and negative symptoms were elevated in deletion carriers. Finally, healthy control subjects showed an inverse relationship between processing speed and cortical thickness in heteromodal association areas, which was absent in both CNV groups. CONCLUSIONS : 22q11.2 CNVs differentially modulate intellectual functioning and psychosis-related symptomatology but converge on broad ASD-related symptomatology. However, subtle differences in ASD profiles distinguish CNV groups. Processing speed impairments, coupled with the lack of normative relationship between processing speed and cortical thickness in CNV carriers, implicate aberrant development of the cortical mantle in the pathology underlying impaired processing speed ability.

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5. Mazurek MO, Harkins C, Menezes M, Chan J, Parker RA, Kuhlthau K, Sohl K. Primary Care Providers’ Perceived Barriers and Needs for Support in Caring for Children with Autism. J Pediatr ;2020 (Mar 3)

A mixed methods approach was used to examine perspectives of 114 primary care providers regarding barriers and needs for support in caring for children with autism. The most common barriers related to lack of knowledge and resources for diagnosing and treating children with autism, and inadequate visit time and reimbursement.

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6. Meeking MM, MacFabe DF, Mepham JR, Foley KA, Tichenoff LJ, Boon FH, Kavaliers M, Ossenkopp KP. Propionic acid induced behavioural effects of relevance to autism spectrum disorder evaluated in the hole board test with rats. Prog Neuropsychopharmacol Biol Psychiatry ;2020 (Mar 8) ;97:109794.

Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterized by abnormal social interactions, impaired language, and stereotypic and repetitive behaviours. Among genetically susceptible subpopulations, gut and dietary influences may play a role in etiology. Propionic acid (PPA), produced by enteric gut bacteria, crosses both the gut-blood and the blood-brain barrier. Previous research has demonstrated that repeated intracerebroventricular (ICV) infusions of PPA in adult rats produce behavioural and neuropathological changes similar to those seen in ASD patients, including hyperactivity, stereotypy, and repetitive movements. The current study examined dose and time related changes of exploratory and repetitive behaviours with the use of the hole-board task. Adult male Long-Evans rats received ICV infusions twice a day, 4h apart, of either buffered PPA (low dose 0.052M or high dose 0.26M, pH7.5, 4muL/infusion) or phosphate buffered saline (PBS, 0.1M) for 7 consecutive days. Locomotor activity and hole-poke behaviour were recorded daily in an automated open field apparatus (Versamax), equipped with 16 open wells, for 30min immediately after the second infusion. In a dose dependent manner PPA infused rats displayed significantly more locomotor activity, stereotypic behaviour and nose-pokes than PBS infused rats. Low-dose PPA animals showed locomotor activity levels similar to those of PBS animals at the start of the infusion schedule, but gradually increased to levels comparable to those of high-dose PPA animals by the end of the infusion schedule, demonstrating a dose and time dependent effect of the PPA treatments.

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7. Nadeem A, Ahmad SF, Attia SM, Al-Ayadhi LY, Al-Harbi NO, Bakheet SA. Dysregulation in IL-6 receptors is associated with upregulated IL-17A related signaling in CD4+ T cells of children with autism. Prog Neuropsychopharmacol Biol Psychiatry ;2020 (Mar 8) ;97:109783.

Autism spectrum disorder (ASD) is a heterogeneous syndrome characterized by dysregulations in speech and social interactions as well as repetitive and stereotypical behavioral patterns in which immune system plays a significant role. IL-6, an essential cytokine for polarization of Th0 cells into Th17 cells has been demonstrated to be crucial in the etiology of ASD in past studies both in humans and mice. Th17 cells are also believed to be central players in the pathogenesis of ASD through release of IL-17A. However, there is still insufficient data regarding identification of Th17 cells with respect to IL-6 signaling in ASD subjects. Therefore, this study explored IL-6 receptors (IL-6R/sIL-6R) and Th17 (p-STAT3/IL-17A/IL-23R) related markers comprehensively in the blood of typically-developing control (TDC, n=35) and ASD children (n=45). Our data show that there is enhanced sIL-6R levels in plasma and CD4+ T cells of ASD subjects as compared to TDC group. Increased sIL-6R signaling is associated with upregulated Th17 development in ASD subjects. Further, severe ASD subjects have higher inflammation in terms of IL-6/IL-17A related signaling as compared to moderate ASD patients. Furthermore, treatment of CD4+T cells in vitro with IL-6 leads to much greater upregulation of p-STAT3, and IL-17A in ASD subjects than similarly treated CD4+ T cells in TDC group. Antagonism of IL-6 signaling by SC144 in vitro led to blockade of IL-6 mediated effects on CD4+ T cells. These data display unequivocally that IL-6 signaling components are dysregulated which play a crucial in enhancement of Th17 development in ASD subjects.

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