Pubmed du 27/11/17

lundi 27 novembre 2017

1. Correction : Detection of atypical network development patterns in children with autism spectrum disorder using magnetoencephalography. PLoS One. 2017 ; 12(11) : e0188813.

[This corrects the article DOI : 10.1371/journal.pone.0184422.].

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2. Endevelt-Shapira Y, Perl O, Ravia A, Amir D, Eisen A, Bezalel V, Rozenkrantz L, Mishor E, Pinchover L, Soroka T, Honigstein D, Sobel N. Altered responses to social chemosignals in autism spectrum disorder. Nat Neurosci. 2017.

Autism spectrum disorder (ASD) is characterized by impaired social communication, often attributed to misreading of emotional cues. Why individuals with ASD misread emotions remains unclear. Given that terrestrial mammals rely on their sense of smell to read conspecific emotions, we hypothesized that misreading of emotional cues in ASD partially reflects altered social chemosignaling. We found no difference between typically developed (TD) and cognitively able adults with ASD at explicit detection and perception of social chemosignals. Nevertheless, TD and ASD participants dissociated in their responses to subliminal presentation of these same compounds : the undetected ’smell of fear’ (skydiver sweat) increased physiological arousal and reduced explicit and implicit measures of trust in TD but acted opposite in ASD participants. Moreover, two different undetected synthetic putative social chemosignals increased or decreased arousal in TD but acted opposite in ASD participants. These results implicate social chemosignaling as a sensory substrate of social impairment in ASD.

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3. Macari SL, Wu GC, Powell KK, Fontenelle St, Macris DM, Chawarska K. Do Parents and Clinicians Agree on Ratings of Autism-Related Behaviors at 12 Months of Age ? A Study of Infants at High and Low Risk for ASD. J Autism Dev Disord. 2017.

Given the emphasis on early screening for ASD, it is crucial to examine the concordance between parent report and clinician observation of autism-related behaviors. Similar items were compared from the First Year Inventory (Baranek et al. First-Year Inventory (FYI) 2.0. University of North Carolina, Chapel Hill, 2003), a parent screener for ASD, and the ADOS-2 Toddler Module (Lord et al. 2013), a standardized ASD diagnostic tool. Measures were administered concurrently to 12-month-olds at high and low risk for ASD. Results suggest that clinicians and parents rated behaviors similarly. In addition, both informants rated high-risk infants as more impaired in several social-communication behaviors. Furthermore, the format of questions impacted agreement across observers. These findings have implications for the development of a new generation of screening instruments for ASD.

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4. Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG. Rare FMR1 gene mutations causing fragile X syndrome : A review. Am J Med Genet A. 2017.

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, typically due to CGG-repeat expansions in the FMR1 gene leading to lack of expression. We identified a rare FMR1 gene mutation (c.413G>A), previously reported in a single patient and reviewed the literature for other rare FMR1 mutations. Our patient at 10 years of age presented with the classical findings of FXS including intellectual disability, autism, craniofacial findings, hyperextensibility, fleshy hands, flat feet, unsteady gait, and seizures but without the typical CGG-repeat expansion. He had more features of FXS than the previously reported patient with the same mutation. Twenty individuals reported previously with rare missense or nonsense mutations or other coding disturbances of the FMR1 gene ranged in age from infancy to 50 years ; most were verbal with limited speech, had autism and hyperactivity, and all had intellectual disability. Four of the 20 individuals had a mutation within exon 15, three within exon 5, and two within exon 2. The FMR1 missense mutation (c.413G>A) is the same as in a previously reported male where it was shown that there was preservation of the post-synaptic function of the fragile X mental retardation protein (FMRP), the encoded protein of the FMR1 gene was preserved. Both patients with this missense mutation had physical, cognitive, and behavioral features similarly seen in FXS.

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5. Wu DM, Wen X, Han XR, Wang S, Wang YJ, Shen M, Fan SH, Zhuang J, Li MQ, Hu B, Sun CH, Bao YX, Yan J, Lu J, Zheng YL. Relationship Between Neonatal Vitamin D at Birth and Risk of Autism Spectrum Disorders : the NBSIB Study. J Bone Miner Res. 2017.

Previous studies suggested that lower vitamin D might be a risk factor for autism spectrum disorders (ASDs). The aim of this study was to estimate the prevalence of ASDs in 3-year-old Chinese children and to examine the association between neonatal vitamin D status and risk of ASDs. We conducted a study of live births who had taken part in expanded newborn screening (NBS), with outpatient follow-up when the children 3-year old. The children were confirmed for ASDs in outpatient by the Autism Diagnostic Interview-Revised and Diagnostic and Statistical Manual of Mental Disorders (DSM)-5 criteria. Intellectual disability (ID) status was defined by the intelligence quotient (IQ < 80) for all the participants. The study design included a 1:4 case to control design. The concentration of 25-hydroxyvitamin D3 [25(OH)D3] in children with ASD and controls were assessed from neonatal dried blood samples. A total of 310 children were diagnosed as having ASDs ; thus, the prevalence was 1.11% (95% CI, 0.99% to 1.23%). The concentration of 25(OH)D3 in 310 ASD and 1240 controls were assessed. The median 25(OH)D3 level was significantly lower in children with ASD as compared to controls (p < 0.0001). Compared with the fourth quartiles, the relative risk (RR) of ASDs was significantly increased for neonates in each of the three lower quartiles of the distribution of 25(OH)D3, and increased risk of ASDs by 260% (RR for lowest quartile : 3.6 ; 95% CI, 1.8 to 7.2 ; p < 0.001), 150% (RR for second quartile : 2.5 ; 95% CI, 1.4 to 3.5 ; p = 0.024), and 90% (RR for third quartile : 1.9 ; 95% CI, 1.1 to 3.3 ; p = 0.08), respectively. Furthermore, the nonlinear nature of the ID-risk relationship was more prominent when the data were assessed in deciles. This model predicted the lowest relative risk of ID in the 72rd percentile (corresponding to 48.1 nmol/L of 25(OH)D3). Neonatal vitamin D status was significantly associated with the risk of ASDs and intellectual disability. The nature of those relationships was nonlinear. (c) 2017 American Society for Bone and Mineral Research.

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