1. {{Screening for autism}}. {Arch Dis Child};2016 (Mar 11)
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2. Alhowikan AM. {{Activity-Regulated Cytoskeleton-Associated Protein Dysfunction May Contribute to Memory Disorder and Earlier Detection of Autism Spectrum Disorders}}. {Med Princ Pract};2016 (Mar 11)
OBJECTIVE: To explore a possible role for activity-regulated cytoskeleton-associated protein (Arc/Arg3.1) in the clinical identification of children with autism. SUBJECTS AND METHODS: The plasma levels of Arc/Arg3.1 in 62 boys with autism and 32 healthy boys were measured using enzyme-linked immunosorbent assay (ELISA). The Childhood Autism Rating Scale (CARS) was used to assess severity of autism as defined in the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, (DSM-IV). Mann-Whitney U tests were used for comparisons between children with autism and healthy children. Spearman’s r correlation coefficient (r) was used to determine the relationship between the CARS scores among patients with autism and different variables. RESULTS: The mean plasma level of Arc/Arg3.1 protein in autism was 1.689 +/- 0.917 pg/mL, significantly higher than that of healthy controls: 0.792 +/- 1.056 pg/mL (p < 0.001). No significant relationship was found between plasma levels of Arc/Arg3.1 protein and CARS scores (r = - 0.06; p > 0.05), age (r = – 0.27; p > 0.05). CONCLUSIONS: The mean plasma level of Arc/Arg3.1 protein was higher in children with autism than in controls, suggesting that Arc/Arg3.1 could be a potential early blood biomarker for diagnosis of autism.
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3. Bidinosti M, Botta P, Kruttner S, Proenca CC, Stoehr N, Bernhard M, Fruh I, Mueller M, Bonenfant D, Voshol H, Carbone W, Neal SJ, McTighe SM, Roma G, Dolmetsch RE, Porter JA, Caroni P, Bouwmeester T, Luthi A, Galimberti I. {{CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency}}. {Science};2016 (Mar 11);351(6278):1199-1203.
SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD). We used unbiased, quantitative proteomics to identify changes in the phosphoproteome of Shank3-deficient neurons. Down-regulation of protein kinase B (PKB/Akt)-mammalian target of rapamycin complex 1 (mTORC1) signaling resulted from enhanced phosphorylation and activation of serine/threonine protein phosphatase 2A (PP2A) regulatory subunit, B56beta, due to increased steady-state levels of its kinase, Cdc2-like kinase 2 (CLK2). Pharmacological and genetic activation of Akt or inhibition of CLK2 relieved synaptic deficits in Shank3-deficient and PMDS patient-derived neurons. CLK2 inhibition also restored normal sociability in a Shank3-deficient mouse model. Our study thereby provides a novel mechanistic and potentially therapeutic understanding of deregulated signaling downstream of Shank3 deficiency.
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4. Brosnan M, Lewton M, Ashwin C. {{Reasoning on the Autism Spectrum: A Dual Process Theory Account}}. {J Autism Dev Disord};2016 (Mar 9)
Dual process theory proposes two distinct reasoning processes in humans, an intuitive style that is rapid and automatic and a deliberative style that is more effortful. However, no study to date has specifically examined these reasoning styles in relation to the autism spectrum. The present studies investigated deliberative and intuitive reasoning profiles in: (1) a non-clinical sample from the general population with varying degrees of autism traits (n = 95), and (2) males diagnosed with ASD (n = 17) versus comparisons (n = 18). Taken together, the results suggest reasoning on the autism spectrum is compatible with the processes proposed by Dual Process Theory and that higher autism traits and ASD are characterised by a consistent bias towards deliberative reasoning (and potentially away from intuition).
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5. Burbach JP. {{AUTISM. Unraveling a pathway to autism}}. {Science};2016 (Mar 11);351(6278):1153-1154.
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6. Colbert AM, Webber J, Graham R. {{Factors that Influence Autism Knowledge in Hispanic Cultures: a Pilot Study}}. {J Racial Ethn Health Disparities};2016 (Mar 11)
Although the diagnosis of autism spectrum disorder (ASD) is rising, Hispanic children are diagnosed at a disproportionately lower rate compared to other ethnic and racial groups. Lack of ASD knowledge in the Hispanic community may contribute to this disparity. The study objective was to determine whether sociocultural and environmental factors linked to ASD diagnostic disparities were related to Hispanic parents’ ASD knowledge. A 60-item survey assessing demographic information, acculturation, religiosity, social support, and ASD knowledge was administered to 64 Hispanic patients (84 % female; 76 % uninsured; 82 % Catholic) visiting a southwest clinic. Socioeconomic status (SES), social support, language of questionnaire, spiritual attribution of child diagnosis, and religious importance predicted ASD knowledge, accounting for 43 % of variance. Results contribute to understanding how sociocultural and environmental factors influence ASD knowledge within at-risk Hispanic individuals, which can be used to improve information dissemination and ultimately reduce disparity in ASD services.
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7. Devnani PA, Hegde AU. {{Autism and sleep disorders}}. {J Pediatr Neurosci};2015 (Oct-Dec);10(4):304-307.
« Autism Spectrum Disorders » (ASDs) are neurodevelopment disorders and are characterized by persistent impairments in reciprocal social interaction and communication. Sleep problems in ASD, are a prominent feature that have an impact on social interaction, day to day life, academic achievement, and have been correlated with increased maternal stress and parental sleep disruption. Polysomnography studies of ASD children showed most of their abnormalities related to rapid eye movement (REM) sleep which included decreased quantity, increased undifferentiated sleep, immature organization of eye movements into discrete bursts, decreased time in bed, total sleep time, REM sleep latency, and increased proportion of stage 1 sleep. Implementation of nonpharmacotherapeutic measures such as bedtime routines and sleep-wise approach is the mainstay of behavioral management. Treatment strategies along with limited regulated pharmacotherapy can help improve the quality of life in ASD children and have a beneficial impact on the family. PubMed search was performed for English language articles from January 1995 to January 2015. Following key words: Autism spectrum disorder, sleep disorders and autism, REM sleep and autism, cognitive behavioral therapy, sleep-wise approach, melatonin and ASD were used. Only articles reporting primary data relevant to the above questions were included.
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8. Neely-Barnes SL, Elswick SE. {{Inclusion for People with Developmental Disabilities: Measuring an Elusive Construct}}. {J Soc Work Disabil Rehabil};2016 (Mar 11)
The philosophy of inclusion for people with intellectual and developmental disabilities (IDD) has evolved over the last fifty years. Over time, inclusion research has shifted from a focus on deinstitutionalization to understanding the extent to which individuals with IDD are meaningfully involved in the community and social relationships. Yet, there has been no agreed upon way to measure inclusion. Many different measurement and data collection techniques have been used in the literature. The present study proposes a brief measure of inclusion that can be used with family members and on survey instruments.
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9. Raspa M, Edwards A, Wheeler AC, Bishop E, Bailey DB, Jr. {{Family Communication and Cascade Testing for Fragile X Syndrome}}. {J Genet Couns};2016 (Mar 9)
A total of 679 families who had at least one child with fragile X syndrome (FXS) were recruited from a research registry to participate in a survey examining cascade testing and communication about FXS. Families had a total of 1117 children (804 males, 313 females). Most families (84 %) had tested all of their children. The main reason for not testing, which did not differ by gender or age of the child, was that the child did not show signs of FXS (68 %). Families talked with their children about FXS occasionally (47 %) although 16 % said they do not talk about it. Most families (66 %) had told their children their FXS status, with males and those with the premutation being less likely to be told test results. Of those that did not, 46 % said that they would tell their child when they were old enough to understand, whereas 34 % had either decided they would not tell or were not sure if or when they were going to tell. About a quarter of respondents (28 %) indicated that no extended family members had been tested, with income and communication about FXS being the strongest predictors. Results from this large scale survey provide important data on how families communicate about FXS and reasons testing is or is not sought. This information can be used by genetic counsellors in providing follow-up to families after a FXS diagnosis.
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10. Villanueva-Bonilla C, Bonilla-Santos J, Arana-Guzman F, Ninco-Cuenca I, Quintero-Lozano A. {{[Effects of a ‘theory of mind’ cognitive development pilot programme in three children with autism: emotional component]}}. {Rev Neurol};2016 (Mar 16);62(6):267-272.
INTRODUCTION: Theory of mind is defined as the capacity to predict, understand and act when faced with other people’s behaviour, their knowledge, their intentions, their emotions and their beliefs. It is proposed as a feasible alternative for establishing a programme adapted to the characteristics of children diagnosed with autism spectrum disorder. CASE REPORTS: The effect of a ‘theory of mind’ cognitive development pilot programme on the emotional skills of three children with autism spectrum disorder is reported. Case 1: 9-year-old boy, with scarce emotional identification and expression, as well as difficulties to hold fluent and coherent conversations. Case 2: 10-year-old boy, with mechanical, not very fluent language, and difficulties to start and maintain a conversation. Case 3: 8-year-old girl who presents deficits in the non-verbal communicative behaviours used in social interaction and difficulties to adapt to situations other than everyday ones. In the three cases there is an improvement in the emotional capacities following implementation of the programme; moreover, their parents, teachers or therapists perceived positive changes in the children’s adaptive skills. CONCLUSIONS: The methodological and structural aspects of the cognitive development programme were well-suited to the children with autism who took part in the research study. Due to the preliminary nature of this study, it is suggested that future research should utilise a larger sample and a double-blind design with randomised case-controls that allow the findings to be generalised.
11. Wallace GL, Budgett J, Charlton RA. {{Aging and autism spectrum disorder: Evidence from the broad autism phenotype}}. {Autism Res};2016 (Mar 11)
This study investigated for the first time the broad autism phenotype (BAP) in the context of older adulthood and its associations with real-world executive function, social support, and both depression and anxiety symptomatology. Based on self-ratings of autistic traits, 66 older adults (60+ years old, range = 61-88) were split into BAP (n = 20) and control (n = 46) groups. Individuals in the BAP group, even after controlling for age, education level, sex, and health problems, exhibited more real-world executive function problems in multiple domains, reported lower levels of social support, and self-rated increased depression and anxiety symptomatology compared to the control group. Regression analysis revealed that level of social support was the strongest predictor of BAP traits across both groups, although real-world executive function problems and depression symptomatology were also significant predictors. Moreover, when predicting anxiety and depression symptomatology, BAP traits were the strongest predictors above and beyond the effects of demographic factors, real-world executive function problems, and social support levels. These findings suggest that the BAP in older adulthood imparts additional risks to areas of functioning that are known to be crucial to aging-related outcomes in the context of typical development. These results might in turn inform aging in autism spectrum disorder, which has been largely unexplored to date. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
