1. Geretsegger M, Elefant C, Mossler KA, Gold C. {{Music therapy for people with autism spectrum disorder}}. {Cochrane Database Syst Rev};2014 (Jun 17);6:CD004381.
BACKGROUND: The central impairments of people with autism spectrum disorder (ASD) affect social interaction and communication. Music therapy uses musical experiences and the relationships that develop through them to enable communication and expression, thus attempting to address some of the core problems of people with ASD. The present version of this review on music therapy for ASD is an update of the original Cochrane review published in 2006. OBJECTIVES: To assess the effects of music therapy for individuals with ASD. SEARCH METHODS: We searched the following databases in July 2013: CENTRAL, Ovid MEDLINE, EMBASE, LILACS, PsycINFO, CINAHL, ERIC, ASSIA, Sociological Abstracts, and Dissertation Abstracts International. We also checked the reference lists of relevant studies and contacted investigators in person. SELECTION CRITERIA: All randomised controlled trials (RCTs) or controlled clinical trials comparing music therapy or music therapy added to standard care to ‘placebo’ therapy, no treatment, or standard care for individuals with ASD were considered for inclusion. DATA COLLECTION AND ANALYSIS: Two authors independently selected studies, assessed risk of bias, and extracted data from all included studies. We calculated the pooled standardised mean difference (SMD) and corresponding 95% confidence interval (CI) for continuous outcomes to allow the combination data from different scales and to facilitate the interpretation of effect sizes. Heterogeneity was assessed using the I(2) statistic. In cases of statistical heterogeneity within outcome subgroups, we examined clients’ age, intensity of therapy (number and frequency of therapy sessions), and treatment approach as possible sources of heterogeneity. MAIN RESULTS: We included 10 studies (165 participants) that examined the short- and medium-term effect of music therapy interventions (one week to seven months) for children with ASD. Music was superior to ‘placebo’ therapy or standard care with respect to the primary outcomes social interaction within the therapy context (SMD 1.06, 95% CI 0.02 to 2.10, 1 RCT, n = 10); generalised social interaction outside of the therapy context (SMD 0.71, 95% CI 0.18 to 1.25, 3 RCTs, n = 57, moderate quality evidence), non-verbal communicative skills within the therapy context (SMD 0.57, 95% CI 0.29 to 0.85, 3 RCTs, n = 30), verbal communicative skills (SMD 0.33, 95% CI 0.16 to 0.49, 6 RCTs, n = 139), initiating behaviour (SMD 0.73, 95% CI 0.36 to 1.11, 3 RCTs, n = 22, moderate quality evidence), and social-emotional reciprocity (SMD 2.28, 95% CI 0.73 to 3.83, 1 RCT, n = 10, low quality evidence). There was no statistically significant difference in non-verbal communicative skills outside of the therapy context (SMD 0.48, 95% CI -0.02 to 0.98, 3 RCTs, n = 57, low quality evidence). Music therapy was also superior to ‘placebo’ therapy or standard care in secondary outcome areas, including social adaptation (SMD 0.41, 95% CI 0.21 to 0.60, 4 RCTs, n = 26), joy (SMD 0.96, 95% CI 0.04 to 1.88, 1 RCT, n = 10), and quality of parent-child relationships (SMD 0.82, 95% CI 0.13 to 1.52, 2 RCTs, n = 33, moderate quality evidence). None of the included studies reported any adverse effects. The small sample sizes of the studies limit the methodological strength of these findings. AUTHORS’ CONCLUSIONS: The findings of this updated review provide evidence that music therapy may help children with ASD to improve their skills in primary outcome areas that constitute the core of the condition including social interaction, verbal communication, initiating behaviour, and social-emotional reciprocity. Music therapy may also help to enhance non-verbal communication skills within the therapy context. Furthermore, in secondary outcome areas, music therapy may contribute to increasing social adaptation skills in children with ASD and to promoting the quality of parent-child relationships. In contrast to the studies included in an earlier version of this review published in 2006, the new studies included in this update enhanced the applicability of findings to clinical practice. More research using larger samples and generalised outcome measures is needed to corroborate these findings and to examine whether the effects of music therapy are enduring. When applying the results of this review to practice, it is important to note that the application of music therapy requires specialised academic and clinical training.
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2. Hall DA. {{In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?}}. {Tremor Other Hyperkinet Mov (N Y)};2014;4:208.
Smaller expansions (41-54 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene are termed « gray zone » alleles. Only recently has interest in these expansions increased due to reporting of phenotypes unique to gray zone carriers or similar to those seen in individuals with larger expansions. As minimal research has focused on gray zone expansions, this paper asks several questions related to this topic. These include the following: What is the definition of the gray zone? Is there a risk of developing neurological signs in these carriers? Are there secondary gene effects that impact gray zone alleles or a biologic advantage to carrying these repeats? How do we counsel patients with gray zone expansions? The answers to these questions will help to determine the significance of these expansions and provide needed information to the research community and clinicians.
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3. Holwerda A, Brouwer S, de Boer MR, Groothoff JW, van der Klink JJ. {{Expectations from Different Perspectives on Future Work Outcome of Young Adults with Intellectual and Developmental Disabilities}}. {J Occup Rehabil};2014 (Jun 17)
Purpose Expectations strongly influence future employment outcomes and social networks seem to mediate employment success of young adults with intellectual and developmental disabilities. The aim of this study is to examine the expectations of young adults with intellectual and developmental disabilities from special needs education, their parents and their school teachers regarding future work and the extent to which these expectations predict work outcome. Methods Data on 341 young adults with intellectual or developmental disabilities, coming from special needs education, aged 17-20 years, and with an ability to work according to the Social Security Institute were examined. Results The school teacher’s expectation was the only perspective that significantly predicted entering competitive employment, with a complementary effect of the expectation of parents and a small additional effect of the expectation of the young adult. Conclusions Expectations of school teachers and parents are valuable in predicting work outcome. Therefore, it is important for professionals working with the young adult in the transition from school to work to incorporate the knowledge of school teachers and parents regarding the abilities of the young adult to enter competitive employment as a valuable source of information.
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4. Kirino E. {{Efficacy and Tolerability of Pharmacotherapy Options for the Treatment of Irritability in Autistic Children}}. {Clin Med Insights Pediatr};2014;8:17-30.
Children with autism have a high rate of irritability and aggressive symptoms. Irritability or self-injurious behavior can result in significant harm to those affected, as well as to marked distress for their families. This paper provides a literature review regarding the efficacy and tolerability of pharmacotherapy for the treatment of irritability in autistic children. Although antipsychotics have not yet been approved for the treatment of autistic children by many countries, they are often used to reduce symptoms of behavioral problems, including irritability, aggression, hyperactivity, and panic. However, among antipsychotics, the Food and Drug Administration has approved only risperidone and aripiprazole to treat irritability in autism. Among atypical antipsychotics, olanzapine and quetiapine are limited in their use for autism spectrum disorders in children because of high incidences of weight gain and sedation. In comparison, aripiprazole and ziprasidone cause less weight gain and sedation. However, potential QTc interval prolongation with ziprasidone has been reported. Contrary to ziprasidone, no changes were evident in the QT interval in any of the trials for aripiprazole. However, head-to-head comparison studies are needed to support that aripiprazole may be a promising drug that can be used to treat irritability in autistic children. On the other hand, risperidone has the greatest amount of evidence supporting it, including randomized controlled trials; thus, its efficacy and tolerability has been established in comparison with other agents. Further studies with risperidone as a control drug are needed.
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5. Malkki H. {{Neurodevelopmental disorders: Elevated fetal sex steroids might confer risk for autism}}. {Nat Rev Neurol};2014 (Jun 17)
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6. Masi A, Quintana DS, Glozier N, Lloyd AR, Hickie IB, Guastella AJ. {{Cytokine aberrations in autism spectrum disorder: a systematic review and meta-analysis}}. {Mol Psychiatry};2014 (Jun 17)
The role of non-diagnostic features in the pathophysiology of autism spectrum disorders (ASDs) is unclear. Increasing evidence suggests immune system alterations in ASD may be implicated in the severity of behavioral impairment and other developmental outcomes. The primary objective of this meta-analysis was to investigate if there is a characteristic abnormal cytokine profile in ASD compared with healthy controls (HCs). We identified relevant studies following a search of MEDLINE, EMBASE, PsycINFO, Web of Knowledge and Scopus. A meta-analysis was performed on studies comparing plasma and serum concentrations of cytokines in unmedicated participants with ASD and HCs. Results were reported according to PRISMA statement. Seventeen studies with a total sample size of 743 participants with ASD and 592 HC were included in the analysis. Nineteen cytokines were assessed. Concentrations of interleukin (IL)-1beta (P<0.001), IL-6 (P=0.03), IL-8 (P=0.04), interferon-gamma (P=0.02), eotaxin (P=0.01) and monocyte chemotactic protein-1 (P<0.05) were significantly higher in the participants with ASD compared with the HC group, while concentrations of transforming growth factor-beta1 were significantly lower (P<0.001). There were no significant differences between ASD participants and controls for the other 12 cytokines analyzed. The findings of our meta-analysis identified significantly altered concentrations of cytokines in ASD compared to HCs, strengthening evidence of an abnormal cytokine profile in ASD where inflammatory signals dominate.Molecular Psychiatry advance online publication, 17 June 2014; doi:10.1038/mp.2014.59.
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7. Mealey A, Abbott G, Byrne LK, McGillivray J. {{Overlap between autistic and schizotypal personality traits is not accounted for by anxiety and depression}}. {Psychiatry Res};2014 (Jun 2)
Autism spectrum and schizophrenia spectrum disorders are classified separately in the DSM-5, yet research indicates that these two disorders share overlapping features. The aim of the present study was to examine the overlap between autistic and schizotypal personality traits and whether anxiety and depression act as confounding variables in this relationship within a non-clinical population. One hundred and forty-four adults completed the Autism Spectrum Quotient and the Schizotypal Personality Questionnaire and the Depression Anxiety Stress Scales-21. A number of associations were seen between autistic and schizotypal personality traits. However, negative traits were the only schizotypal feature to uniquely predict global autistic traits, thus highlighting the importance of interpersonal qualities in the overlap of autistic and schizotypal characteristics. The inclusion of anxiety and depression did not alter relationships between autistic and schizotypal traits, indicating that anxiety and depression are not confounders of this relationship. These findings have important implications for the conceptualisation of both disorders.
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8. Mohn JL, Alexander J, Pirone A, Palka CD, Lee SY, Mebane L, Haydon PG, Jacob MH. {{Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities}}. {Mol Psychiatry};2014 (Jun 17)
Intellectual disabilities (IDs) and autism spectrum disorders link to human APC inactivating gene mutations. However, little is known about adenomatous polyposis coli’s (APC’s) role in the mammalian brain. This study is the first direct test of the impact of APC loss on central synapses, cognition and behavior. Using our newly generated APC conditional knock-out (cKO) mouse, we show that deletion of this single gene in forebrain neurons leads to a multisyndromic neurodevelopmental disorder. APC cKO mice, compared with wild-type littermates, exhibit learning and memory impairments, and autistic-like behaviors (increased repetitive behaviors, reduced social interest). To begin to elucidate neuronal changes caused by APC loss, we focused on the hippocampus, a key brain region for cognitive function. APC cKO mice display increased synaptic spine density, and altered synaptic function (increased frequency of miniature excitatory synaptic currents, modestly enhanced long-term potentiation). In addition, we found excessive beta-catenin levels and associated changes in canonical Wnt target gene expression and N-cadherin synaptic adhesion complexes, including reduced levels of presenilin1. Our findings identify some novel functional and molecular changes not observed previously in other genetic mutant mouse models of co-morbid cognitive and autistic-like disabilities. This work thereby has important implications for potential therapeutic targets and the impact of their modulation. We provide new insights into molecular perturbations and cell types that are relevant to human ID and autism. In addition, our data elucidate a novel role for APC in the mammalian brain as a hub that links to and regulates synaptic adhesion and signal transduction pathways critical for normal cognition and behavior.Molecular Psychiatry advance online publication, 17 June 2014; doi:10.1038/mp.2014.61.
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9. Naviaux JC, Schuchbauer MA, Li K, Wang L, Risbrough VB, Powell SB, Naviaux RK. {{Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy}}. {Transl Psychiatry};2014;4:e400.
Autism spectrum disorders (ASDs) now affect 1-2% of the children born in the United States. Hundreds of genetic, metabolic and environmental factors are known to increase the risk of ASD. Similar factors are known to influence the risk of schizophrenia and bipolar disorder; however, a unifying mechanistic explanation has remained elusive. Here we used the maternal immune activation (MIA) mouse model of neurodevelopmental and neuropsychiatric disorders to study the effects of a single dose of the antipurinergic drug suramin on the behavior and metabolism of adult animals. We found that disturbances in social behavior, novelty preference and metabolism are not permanent but are treatable with antipurinergic therapy (APT) in this model of ASD and schizophrenia. A single dose of suramin (20 mg kg-1 intraperitoneally (i.p.)) given to 6-month-old adults restored normal social behavior, novelty preference and metabolism. Comprehensive metabolomic analysis identified purine metabolism as the key regulatory pathway. Correction of purine metabolism normalized 17 of 18 metabolic pathways that were disturbed in the MIA model. Two days after treatment, the suramin concentration in the plasma and brainstem was 7.64 muM pmol mul-1 (+/-0.50) and 5.15 pmol mg-1 (+/-0.49), respectively. These data show good uptake of suramin into the central nervous system at the level of the brainstem. Most of the improvements associated with APT were lost after 5 weeks of drug washout, consistent with the 1-week plasma half-life of suramin in mice. Our results show that purine metabolism is a master regulator of behavior and metabolism in the MIA model, and that single-dose APT with suramin acutely reverses these abnormalities, even in adults.
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10. Taylor LE, Swerdfeger AL, Eslick GD. {{Vaccines are not associated with autism: An evidence-based meta-analysis of case-control and cohort studies}}. {Vaccine};2014 (Jun 17);32(29):3623-3629.
There has been enormous debate regarding the possibility of a link between childhood vaccinations and the subsequent development of autism. This has in recent times become a major public health issue with vaccine preventable diseases increasing in the community due to the fear of a ‘link’ between vaccinations and autism. We performed a meta-analysis to summarise available evidence from case-control and cohort studies on this topic (MEDLINE, PubMed, EMBASE, Google Scholar up to April, 2014). Eligible studies assessed the relationship between vaccine administration and the subsequent development of autism or autism spectrum disorders (ASD). Two reviewers extracted data on study characteristics, methods, and outcomes. Disagreement was resolved by consensus with another author. Five cohort studies involving 1,256,407 children, and five case-control studies involving 9,920 children were included in this analysis. The cohort data revealed no relationship between vaccination and autism (OR: 0.99; 95% CI: 0.92 to 1.06) or ASD (OR: 0.91; 95% CI: 0.68 to 1.20), nor was there a relationship between autism and MMR (OR: 0.84; 95% CI: 0.70 to 1.01), or thimerosal (OR: 1.00; 95% CI: 0.77 to 1.31), or mercury (Hg) (OR: 1.00; 95% CI: 0.93 to 1.07). Similarly the case-control data found no evidence for increased risk of developing autism or ASD following MMR, Hg, or thimerosal exposure when grouped by condition (OR: 0.90, 95% CI: 0.83 to 0.98; p=0.02) or grouped by exposure type (OR: 0.85, 95% CI: 0.76 to 0.95; p=0.01). Findings of this meta-analysis suggest that vaccinations are not associated with the development of autism or autism spectrum disorder. Furthermore, the components of the vaccines (thimerosal or mercury) or multiple vaccines (MMR) are not associated with the development of autism or autism spectrum disorder.
