1. Baghdadli A, Pry R, Michelon C, Rattaz C. {{Impact of autism in adolescents on parental quality of life}}. {Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation}. 2014 Feb 7.
PURPOSE: To study the impact of autism spectrum disorders (ASDs) on parental quality of life (QoL) at adolescence using the parental-developmental disorders-quality of life scale (Par-DD-QoL). METHODS: One hundred and fifty-two mothers of adolescents with ASD completed Par-DD-QoL. This scale assesses the following dimensions: emotional, daily disturbance and global QoL. This cross-sectional study uses a subset of data collected at the final time of a follow-up study (EpiTED cohort). RESULTS: A polytomic regression identified an increase in aberrant behavior scores as the major independent risk factor for parental QoL. The identified protective factors were the increase in daily living, communication and object cognition scores and a higher number of siblings. CONCLUSIONS: Those results suggest that there is a negative effect of externalizing behaviors and a protective effect of adaptive skills, communication and object cognition on parental QoL. Study limitations and implications are discussed.
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2. Devanna P, Vernes SC. {{A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137}}. {Scientific reports}. 2014;4:3994.
Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3’UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes.
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3. Joosten AV, Safe AP. {{Management strategies of mothers of school-age children with autism: Implications for practice}}. {Australian occupational therapy journal}. 2014 Feb 6.
BACKGROUND/AIM: Mothering children with autism results in mothers spending more time on daily tasks as well as managing the disorder. The need for mothers to self-manage often increases when the child is school aged. Mothers develop strategies, and occupational therapists and other health professional rely on or expect mothers to be involved in meeting the extra needs of their children with autism and other family members. Little is known about the strategies adopted by the mothers. The aim of this study was to explore the strategies mothers used to manage their roles and emotions, and their child’s behaviours. METHOD: In-depth individual interviews were conducted with seven mothers and data were analysed in this qualitative study using phenomenological analysis. RESULTS: Findings revealed that the mothers had adopted strategies to manage their roles, their emotions and their child’s behaviour. However, the strategies were often shaped by the expectations of others or circumstances beyond their control and at times added further to their stress. CONCLUSIONS: Mothers of children with autism developed strategies to self-manage their lives and their child’s disorder. However, even when these strategies were effective, they sometimes placed further stress on the mothers. The mothers provided insights to how they coped but need help to consider the support they require and therapists need to consider the pressures of expecting mothers to self-manage their child’s disorder, their own lives and their family. Family-centred practice emphasising collaboration with mothers needs to be maintained with school-aged children.
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4. Karlsson C. {{Autism and other neurodevelopmental disorders}}. {The American journal of psychiatry}. 2014 Feb 1;171(2):232-3.
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5. Keysers C, Meffert H, Gazzola V. {{Reply: Spontaneous versus deliberate vicarious representations: different routes to empathy in psychopathy and autism}}. {Brain : a journal of neurology}. 2014 Feb 5.
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6. Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. {{Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation}}. {Human molecular genetics}. 2014 Feb 5.
Numerous studies and case reports show co-morbidity of autism and epilepsy, suggesting some common molecular underpinnings of the two phenotypes. However, the relationship between the two on the molecular level remains unclear. Here, whole exome sequencing was performed on a family with identical twins affected with autism and severe, intractable seizures. A de novo variant was identified in the KCND2 gene, which encodes the Kv4.2 potassium channel. Kv4.2 is a major pore-forming subunit in somatodendritic subthreshold A-type potassium current (ISA) channels. The de novo mutation p.Val404Met is novel and occurs at a highly conserved residue within the C-terminal end of the transmembrane helix S6 region of the ion permeation pathway. Functional analysis revealed the likely pathogenicity of the variant in that the p.Val404Met mutant construct showed significantly slowed inactivation, either by itself or after equimolar co-expression with the wild-type Kv4.2 channel construct consistent with a dominant effect. Further, the effect of the mutation on closed-state inactivation was evident in the presence of auxiliary subunits that associate with Kv4 subunits to form ISAchannels in vivo. Discovery of a functionally relevant novel de novo variant, coupled with physiological evidence that the mutant protein disrupts potassium current inactivation, strongly supports KCND2 as the causal gene for epilepsy in this family. Interaction of KCND2 with other genes implicated in autism, and the role of KCND2 in synaptic plasticity provide suggestive evidence of an etiological role in autism.
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7. Liu B, Ichinose T, He M, Kobayashi F, Teruya M, Yoshida S, Yoshida Y, Arashidani K, Takano H, Nishikawa M, Sun G, Shibamoto T. {{Lung inflammation by fungus, Bjerkandera adusta isolated from Asian sand dust (ASD) aerosol and enhancement of ovalbumin-induced lung eosinophilia by ASD and the fungus in mice}}. {Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology}. 2014 Feb 5;10(1):10.
BACKGROUND: Bjerkandera adusta (B. adusta) is one of the most important etiological fungi associated with chronic cough. However, precise details of the inflammatory response to exposure are not well understood yet. B. adusta was recently identified in Asian sand dust (ASD) aerosol. Therefore, in the present study the exacerbating effects of ASD on B. adusta-induced lung inflammation and B. adusta + ASD on ovalbumin (OVA)-induced murine lung eosinophilia were investigated using experimental mice. METHODS: In order to prepare testing samples, B. adusta obtained from ASD aerosol was inactivated by formalin and ASD collected from the atmosphere was heated to remove toxic organic substances (H-ASD). CD-1 mice were instilled intratracheally with 12 different samples prepared with various combinations of B. adusta, H-ASD, and OVA in a normal saline solution. The lung pathology, cytological profiles in bronchoalveolar lavage fluid (BALF), and the levels of inflammatory cytokines/chemokines in BALF were investigated. RESULTS: H-ASD aggravated the lung eosinophilia induced by B. adusta alone, which also aggravated the lung eosinophilia induced by OVA. The mixture of OVA, H-ASD, and B. adusta caused serious fibrous thickening of the subepithelial layer, eosinophil infiltration, and proliferation of goblet cells in the airways along with remarkable increases of IL-13, eotaxin, IL-5, and MCP-3 in BALF. CONCLUSIONS: The results of the present study demonstrated that B. adusta isolated from ASD aerosol induces allergic lung diseases. H-ASD enhanced allergic reactions caused by OVA or B. adusta. A mixture of B. adusta, H-ASD, and OVA caused the most remarkable exacerbation to the allergic airway inflammation via remarkable increases of pro-inflammatory mediators.
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8. Mazzone L, Postorino V, Valeri G, Vicari S. {{Catatonia in Patients with Autism: Prevalence and Management}}. {CNS drugs}. 2014 Feb 7.
Although recent studies have shown that catatonia can occur in patients with autism spectrum disorders (ASDs), the overlap of the behavioral features between these disorders raises many diagnostic challenges. In fact, in clinical practice it is common to misinterpret catatonic symptoms, including mutism, stereotypic speech, repetitive behaviors, echolalia, posturing, mannerisms, purposeless agitation and rigidity, as features of ASDs. The current medical treatment algorithm for catatonia in ASDs recommends the use of benzodiazepines. Electroconvulsive therapy (ECT) is indicated when patients are unresponsive, or insufficiently responsive, to benzodiazepines. Other pharmacological options are also described for the treatment of catatonic patients resistant to benzodiazepines and ECT, and there is evidence for the effectiveness of a psychological treatment, co-occurring with medical treatments, in order to support the management of these patients. In this article we provide a summary of studies exploring catatonia in ASDs and our clinical experience in the management and treatment of this syndrome through the presentation of three brief case studies. Moreover, we review the mechanisms underlying symptoms of catatonia in ASDs, as well as the diagnostic challenges, providing an outline for the management and treatment of this syndrome in this clinical population.
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9. Suh J, Eigsti IM, Naigles L, Barton M, Kelley E, Fein D. {{Narrative Performance of Optimal Outcome Children and Adolescents with a History of an Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord}. 2014 Feb 6.
Autism Spectrum Disorders (ASDs) have traditionally been considered a lifelong condition; however, a subset of people makes such significant improvements that they no longer meet diagnostic criteria for an ASD. The current study examines whether these « optimal outcome » (OO) children and adolescents continue to have subtle pragmatic language deficits. The narratives of 15 OO individuals, 15 high-functioning individuals with an ASD (HFA), and 15 typically developing (TD) peers were evaluated. Despite average cognitive functioning, the ASD group produced narratives with fewer central « gist » descriptions, more ambiguous pronominal referents, idiosyncratic language, speech dysfluency (more repetitions and self-corrections), and were less likely to name story characters. The OO participants displayed only very subtle pragmatic and higher-level language deficits (idiosyncratic language and self-correction dysfluency).
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10. Taurines R, Segura M, Schecklmann M, Albantakis L, Grunblatt E, Walitza S, Jans T, Lyttwin B, Haberhausen M, Theisen FM, Martin B, Briegel W, Thome J, Schwenck C, Romanos M, Gerlach M. {{Altered peripheral BDNF mRNA expression and BDNF protein concentrations in blood of children and adolescents with autism spectrum disorder}}. {Journal of neural transmission (Vienna, Austria : 1996)}. 2014 Feb 6.
Findings from molecular genetic studies and analyses of postmortem and peripheral tissue led to the hypothesis that neurotrophins-as crucial moderators of neuroplasticity-impact on the pathophysiology of autism spectrum disorder (ASD). The study projects aimed to complement former results on the role of brain-derived neurotrophic factor (BDNF), a member of the neurotrophin family with fundamental impact on brain development and function. The purpose of this work was to investigate peripheral BDNF mRNA expression and BDNF protein concentrations in ASD as potential surrogates for the effects observed in the central nervous system. In a BDNF protein quantification study, serum concentrations were analyzed using Enzyme-Linked Immunosorbent Assays in 24 male patients with ASD, all with an IQ > 70 (age 13.9 +/- 3.0 years) and 20 age- and gender-matched healthy control subjects (age 14.4 +/- 2.1 years; p = 0.522). In a further independent project, a BDNF mRNA expression analysis, mRNA levels from total blood were assessed by quantitative real-time polymerase chain reaction in a sample of 16 male ASD patients (age 10.8 +/- 2.2), 15 age- and gender-matched healthy controls (age 12.1 +/- 2.2) and 15 patients with attention deficit hyperactivity disorder as a clinical control group (age 11.8 +/- 2.2; p = 0.207). In the protein quantification project, significantly decreased BDNF serum concentrations were found in ASD cases compared to healthy control children (t = -2.123, df = 42, p < 0.05). Analysis of covariance (ANCOVA) revealed this result in accordance with significant reductions in BDNF mRNA expression in ASD, observed in the mRNA expression study (F = 3.65; df = 2.43; p < 0.05); neither age nor IQ confounded the result, as indicated by ANCOVA (F = 3.961; df = 2.41; p < 0.05, eta 2 = 0.162). Our study projects supported the notion that neurotrophins are involved in the pathophysiology of ASD. Further studies may eventually contribute to the identification of distinct peripheral mRNA expression and protein concentration patterns possibly supporting diagnostic and therapeutic processes.
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11. Tyzio R, Nardou R, Ferrari DC, Tsintsadze T, Shahrokhi A, Eftekhari S, Khalilov I, Tsintsadze V, Brouchoud C, Chazal G, Lemonnier E, Lozovaya N, Burnashev N, Ben-Ari Y. {{Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring}}. {Science (New York, NY)}. 2014 Feb 7;343(6171):675-9.
We report that the oxytocin-mediated neuroprotective gamma-aminobutyric acid (GABA) excitatory-inhibitory shift during delivery is abolished in the valproate and fragile X rodent models of autism. During delivery and subsequently, hippocampal neurons in these models have elevated intracellular chloride levels, increased excitatory GABA, enhanced glutamatergic activity, and elevated gamma oscillations. Maternal pretreatment with bumetanide restored in offspring control electrophysiological and behavioral phenotypes. Conversely, blocking oxytocin signaling in naive mothers produced offspring having electrophysiological and behavioral autistic-like features. Our results suggest a chronic deficient chloride regulation in these rodent models of autism and stress the importance of oxytocin-mediated GABAergic inhibition during the delivery process. Our data validate the amelioration observed with bumetanide and oxytocin and point to common pathways in a drug-induced and a genetic rodent model of autism.
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12. Zimmerman AW, Connors SL. {{Neuroscience. Could autism be treated prenatally?}}. {Science (New York, NY)}. 2014 Feb 7;343(6171):620-1.
