Pubmed du 18/12/14

Pubmed du jour

2014-12-18 12:03:50

1. {{International society for autism research news}}. {Autism Res}. 2014; 7(6): 744.

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2. Gliga T, Jones EJ, Johnson MH. {{Low noise in autism: Cause or consequence?}}. {Autism}. 2014.

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3. Griffith GM, Hastings RP, Petalas MA, Lloyd TJ. {{Mothers’ expressed emotion towards children with autism spectrum disorder and their siblings}}. {J Intellect Disabil Res}. 2014.

BACKGROUND: Expressed emotion (EE) is a construct used to measure the emotional climate within families. EE is of interest to researchers in the field of autism spectrum disorder (ASD) because of its putative implications for child development. The aim was to explore whether maternal EE differs towards a child with ASD and a non-disabled sibling. METHODS: We adopted a within-family design with 143 mothers of children with ASD and a non-disabled sibling. EE was measured using the Five-Minute Speech Sample. RESULTS: Wilcoxon signed-rank tests were utilised. Mothers were coded as significantly more critical and less warm towards their child with ASD than towards the sibling. There were no significant differences in maternal emotional overinvolvement or overall EE towards the child with ASD and a sibling. CONCLUSIONS: The data support the results of previous research suggesting that EE is linked to the relationship a mother has with individual children, rather than being evidence of the character disposition of mothers. More research is needed to understand the emotional dimensions of parent-child relationships in families with children with ASD.

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4. Hadad BS, Ziv Y. {{Strong Bias Towards Analytic Perception in ASD Does not Necessarily Come at the Price of Impaired Integration Skills}}. {J Autism Dev Disord}. 2014.

We first demonstrated analytic processing in ASD under conditions in which integral processing seems mandatory in TD observers, a pattern that is often taken to indicate a local default processing in ASD. However, this processing bias does not inevitably come at the price of impaired integration skills. Indeed, examining the same group of individuals with ASD on a task with explicit demands for integrated representations, Experiment 2 showed that the same observers with ASD demonstrated intact spatial integration. The results further showed that performance was not only quantitatively, but also qualitatively comparable to that of TD observers, demonstrating the sensitivity of integration in ASD to the same interactive effects of Gestalt cues.

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5. Hustyi KM, Hall SS, Quintin EM, Chromik LC, Lightbody AA, Reiss AL. {{The Relationship Between Autistic Symptomatology and Independent Living Skills in Adolescents and Young Adults with Fragile X Syndrome}}. {J Autism Dev Disord}. 2014.

Few studies have examined the relationship between autistic symptomatology and competence in independent living skills in adolescents and young adults with fragile X syndrome (FXS). In this study, 70 individuals with FXS, aged 15-25 years, and 35 matched controls were administered direct measures of independent living skills and autistic symptomatology. Results showed that higher levels of autistic symptomatology were associated with lower levels of competence in independent living skills in individuals with FXS, but not in controls. These data indicated that the relationship between autistic symptomatology and independent living skills was syndrome-specific. Early intervention strategies that address autistic symptomatology are sorely needed to improve functional outcomes in this population.

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6. Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, Quesnel-Vallieres M, Tapial J, Raj B, O’Hanlon D, Barrios-Rodiles M, Sternberg MJ, Cordes SP, Roth FP, Wrana JL, Geschwind DH, Blencowe BJ. {{A highly conserved program of neuronal microexons is misregulated in autistic brains}}. {Cell}. 2014; 159(7): 1511-23.

Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However, which of the myriad of detected AS events provide important biological functions is not well understood. Here, we define the largest program of functionally coordinated, neural-regulated AS described to date in mammals. Relative to all other types of AS within this program, 3-15 nucleotide « microexons » display the most striking evolutionary conservation and switch-like regulation. These microexons modulate the function of interaction domains of proteins involved in neurogenesis. Most neural microexons are regulated by the neuronal-specific splicing factor nSR100/SRRM4, through its binding to adjacent intronic enhancer motifs. Neural microexons are frequently misregulated in the brains of individuals with autism spectrum disorder, and this misregulation is associated with reduced levels of nSR100. The results thus reveal a highly conserved program of dynamic microexon regulation associated with the remodeling of protein-interaction networks during neurogenesis, the misregulation of which is linked to autism.

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7. Isomura T, Ito H, Ogawa S, Masataka N. {{Absence of predispositional attentional sensitivity to angry faces in children with autism spectrum disorders}}. {Sci Rep}. 2014; 4: 7525.

A rapid allocation of attention towards threatening stimuli in the environment is crucial for survival. Angry facial expressions act as threatening stimuli, and capture humans’ attention more rapidly than emotionally positive facial expressions – a phenomenon known as the Anger Superiority Effect (ASE). Despite atypical emotional processing, adults with Autism Spectrum Disorders (ASD) have been reported to show ASE similar to typically developed (TD) individuals. One important question is whether the basic process for ASE is intact in individuals with ASD or whether instead they acquire an alternative process that enables ASE. To address this question, we tested the prevalence of ASE in young children with and without ASD using a face-in-the-crowd task. ASE was clearly observed in TD children, whereas ASD children did not show the effect. In contrast to previous reports of ASE in adults or relatively older children with ASD, our results suggest that in ASD basic predispositional mechanisms to allocate attention quickly towards angry faces are not preserved.

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8. Marschik PB, Kaufmann WE, Bolte S, Sigafoos J, Einspieler C. {{En route to disentangle the impact and neurobiological substrates of early vocalizations: Learning from Rett syndrome}}. {Behav Brain Sci}. 2014; 37(6): 562-3.

Research on acoustic communication and its underlying neurobiological substrates has led to new insights about the functioning of central pattern generators (CPGs). CPG-related atypicalities may point to brainstem irregularities rather than cortical malfunctions for early vocalizations/babbling. The « vocal pattern generator, » together with other CPGs, seems to have great potential in disentangling neurodevelopmental disorders and potentially predict neurological development.

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9. Meguid NA, Kandeel WA, Wakeel KE, El-Nofely AA. {{Anthropometric assessment of a Middle Eastern group of autistic children}}. {World J Pediatr}. 2014; 10(4): 318-23.

BACKGROUND: Growth abnormalities are uniquely associated with autism spectrum disorders (ASD); however, the extent to which growth abnormalities are present has hardly been investigated. The current study aims to compare the differences in anthropometric parameters in a group of autistic Egyptian children and the healthy normal population. METHODS: We recruited 100 children with ASD from the Outpatient Clinic for « Autistic Children » at the Medical Research Hospital of Excellence, National Research Centre in Cairo, Egypt. They were diagnosed by DSM-IV criteria of the American Psychiatric Association, Autism Diagnostic Interview-Revised, and Childhood Autism Rating Scale. Of these children at age of 3-10 years, 71 were males and 29 females. Eight anthropometric parameters were assessed in view of data of the healthy Egyptians of pertinent sex and age. RESULTS: Weight and body mass index increased because of a significant increase in subcutaneous fat thickness. This tendency with a probable decrease in muscle mass was more evident in male or in older children, likely resulting from sedentary life style and food selectivity. CONCLUSIONS: The Z head circumference score and its variance significantly increased especially in males or older children, suggesting the relative overgrowth of the brain in a substantial percentage of Egyptian children with autism. We concluded that increased fat composition in Egyptian autistic children with decreased muscle mass necessitates tailoring a specially designed food supplementation program to ameliorate the severity of autism symptoms.

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10. Nishio A, Yamamoto M, Ueki H, Watanabe T, Matsuura K, Tamura O, Uehara R, Shioiri T. {{Prevalence of Mental Illness, Intellectual Disability, and Developmental Disability among Homeless People in Nagoya, Japan – A Case Series Study}}. {Psychiatry Clin Neurosci}. 2014.

AIM: While it has been reported that the prevalence of mental illness is higher in homeless people than in the national population, few studies have investigated the prevalence of intellectual and developmental disability among homeless. In this study, we conducted a survey to comprehensively assess these mental problems among homeless in Nagoya, Japan. METHODS: The subjects were 18 homeless men. Mental illness was diagnosed with semi-structured interviews conducted by psychiatrists. We used WAIS-III to diagnose intellectual disability. Discrepancies between WAIS-III subtest scores were used as criteria of developmental disability. RESULTS: Eleven of the 18 participants were diagnosed with mental illness: 6 with mood disorder, 2 with psychotic disorder, and 6 with alcohol problem. The mean IQ of all subjects was 83.4 +/- 27.4. The 95% confidence interval was 96.2-69.1. Seven participants were found to have intellectual disability. Three men showed discrepancies of more than 10 between subtest scores, and all of them were diagnosed with a mental illness. We divided the participants into four groups; those with mental illness only, those with intellectual disability only, those with both problems, and those without diagnosis. The men with intellectual disability only were significantly younger and had been homeless since a younger age than the other groups. Participants diagnosed with a mental illness had been homeless for longer than those without mental health problems. CONCLUSION: Although the sample size was limited, this study revealed the high prevalence of mental illness and intellectual disability, 61% (95%CI: 35%-83%) and 39 % (95% CI: 17%-64%), respectively, in homeless, Nagoya, Japan.

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11. Raz R, Roberts AL, Lyall K, Hart JE, Just AC, Laden F, Weisskopf MG. {{Autism Spectrum Disorder and Particulate Matter Air Pollution before, during, and after Pregnancy: A Nested Case-Control Analysis within the Nurses’ Health Study II Cohort}}. {Environ Health Perspect}. 2014.

BACKGROUND: Autism spectrum disorder (ASD) is a developmental disorder with increasing prevalence worldwide, yet with unclear etiology. OBJECTIVE: To explore the association between maternal exposure to particulate matter (PM) air pollution and odds of ASD in her child. METHODS: We conducted a nested case-control study of participants in the Nurses’ Health Study II (NHS II), a prospective cohort of 116,430 US female nurses recruited in 1989, followed by biennial mailed questionnaires. Subjects were NHS II participants’ children born 1990-2002 with ASD (n=245), and children without ASD (n=1522) randomly selected using frequency matching for birth years. ASD was based on maternal report, which was validated against the Autism Diagnostic Interview-Revised in a subset. Monthly averages of PM with diameters </=2.5 microm (PM2.5) and 2.5-10 microm (PM10-2.5) were predicted from a spatiotemporal model for the continental US and linked to residential addresses. RESULTS: PM2.5 exposure during pregnancy was associated with increased odds of ASD, with an adjusted odds ratio (OR) for ASD per interquartile range higher PM2.5 (4.42 microg/m3) of 1.57 (95% CI: 1.22, 2.03) among women with the same address before and after pregnancy (160 cases, 986 controls). Associations with PM2.5 exposure 9 months before or after the pregnancy were weaker in independent models and null when all three time periods were included, while the association with the 9 months of pregnancy remained (OR=1.63; 95% CI: 1.08-2.47). The association between ASD and PM2.5 was stronger for exposure during the third trimester (OR=1.42 per inter-quartile range increase in PM2.5, 95% CI: 1.09, 1.86) than other trimesters (ORs 1.06 and 1.00) when mutually adjusted. There was little association between PM10-2.5 and ASD. CONCLUSIONS: Higher maternal exposure to PM2.5 during pregnancy, in particular the third trimester, was associated with greater odds of her child having ASD.

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12. Tsheringla S, Minju KA, Russell S, Mammen P, Russell PS, Nair MK. {{Erratum to: A Meta-analysis of the Diagnostic Accuracy of Autism Diagnostic Observation Schedule Module-1 for Autism Spectrum Disorders}}. {Indian J Pediatr}. 2014.

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13. Wu ZM, Lei M, Wu XH, Li L. {{[The progress and prospect of prepulse inhibition in autism]}}. {Sheng Li Xue Bao}. 2014; 66(6): 730-8.

Prepulse inhibition (PPI) is suppression of the startle reflex when an intense startling stimulus is preceded by a weaker sensory stimulus (the prepulse). It is an operational measurement of sensorimotor gating mechanism to help human adapt to complex environment. This weak prepulse protect central cognitive processing by damping the effect of intense stimuli. Autistics cannot select out behaviorally important information from a lot of irrelevant resources and reflect abnormal gating mechanism and attentional abnormalities. Previous studies have not made agreement on whether autistic patients demonstrated deficits in PPI, because the results depend on age, sex, severity of the disease as well as the experimental parameters used. Moreover, these studies have not covered whether autistics have suffered deficits in higher-order processing. In this review, the « top-down » modulation of selective attention and subjective emotion are introduced into the PPI experiment. We also introduce fear conditioning and perceived spatial separation paradigm to further explore the interaction between autistic cognitive process and gating mechanism.

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