Numéro spécial de North American Journal of Medicine and Science : Advances in Autism 2012

lundi 27 août 2012

Le numéro de juillet 2012 de la revue North American Journal of Medicine and Science est consacré à l’autisme avec des articles en accès libre :

1. Kong X. Preface. NAJ Med Sci. 2012 ; 5(3).

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2. Bett GC, Lis A, Wersinger SR, Baizer JS, Duffey ME, Rasmusson RL. A Mouse Model of Timothy Syndrome : a Complex Autistic Disorder Resulting from a Point Mutation in Cav1.2. NAJ Med Sci. 2012 ; 5(3) : 135-40.

Timothy Syndrome (TS) arises from a point mutation in the human voltage-gated L-type Ca2+ channel (Cav1.2). TS is associated with cardiac arrhythmias and sudden cardiac death, as well as congenital heart disease, impaired cognitive function, and autism spectrum disorders. TS results from a de novo gain-of-function mutation which affects the voltage dependent component of Cav1.2 inactivation. We created a knock-in TS mouse. No homozygous TS mice survived, but heterozygous TS2-NEO mice (with the mutation and the neocassette in situ) had a normal outward appearance and survived to reproductive age. Previously, we have demonstrated that these mice exhibit the triad of Autistic traits. In this paper we document other aspects of these mice including Cav1.2 isoform expression levels, normal physical strength, brain anatomy and a marked propensity towards self-injurious scratching. Gross brain anatomy was not markedly different in TS2-NEO mice compared to control littermates, and no missing structures were noted. The lack of obvious changes in brain structure is consistent with theTS2-NEO mice may provide a significant tool in understanding the role of calcium channel inactivation in both cardiac function and brain development.

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3. Frye RE. Biomarkers of Abnormal Energy Metabolism in Children with Autism Spectrum Disorder. NAJ Med Sci. 2012 ; 5(3) : 141-7.

Biomarkers of mitochondrial disease were studies in 133 consecutive autism spectrum disorder patients to determine the prevalence of abnormalities in biomarkers of mitochondrial disease. Biomarkers included traditional biomarkers of mitochondrial disease (lactate, alanine), fatty-acid oxidation defects (acyl-carnitine panel) and recently described novel biomarkers of detecting mitochondrial dysfunction in individuals with autism spectrum disorder (alanine-to-lysine ratio, creatine kinase, aspartate transaminase). Biomarkers were collected in the morning fasting state. Abnormal biomarker values were verified by repeat testing. For those with abnormal acyl-carnitine panels, secondary disorders of fatty acid metabolism were ruled out. Abnormalities in lactate, alanine-to-lysine ratio and acyl-carnitine panels occurred in over 30% of children on initial testing. Among the patients with abnormal biomarkers who had repeated testing, abnormalities were confirmed about half of the time except for alanine which was only confirmed 20% of the time. Elevation in alanine-to-lysine ratio was associated with epilepsy and elevation in multiple acyl-carnitines was associated with regression. In order to confirm the significance of certain biomarkers, a wide variety of mitochondrial biomarker values were compared between specific subgroups of children with abnormal biomarkers and matched children without any abnormalities in biomarkers. Lactate, alanine-to-lysine ratio and acyl-carnitine panel groups demonstrated abnormalities in multiple mitochondrial biomarkers, confirming the validity of these biomarkers of mitochondrial dysfunction. This study demonstrates that multiple biomarkers of mitochondrial dysfunction are elevated in a significant portion of children with autism spectrum disorder and lend support to the notion that disorders of energy production may affect a significant subset of children with autism.

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4. Lord R, Nelson-Dooley C, Morris C, Bralley J. Weekly Biological Variability of Urinary Organic Acids. NAJ Med Sci. 2012 ; 5(3) : 148-56.

Use of LC-MS/MS methods has improved sample preparation and increased throughput for the measurement of 40 or more organic acids in urine. In order to assess the significance of abnormalities that might be attributed to nutritional inadequacies or other metabolic disturbances, the week-to-week variation of results due to normal physiological responses needs to be established. This study determined the biological variability for 37 organic acids plus hippuric acid, D-arabinitol and 8-hydroxy-2’-deoxyguanosine in overnight urine specimens from eight weekly samples submitted by 22 healthy adults. For the 40 analytes, CVb values varied from 12.3 to 74.3. Fourteen of the analytes had CVb values less than 30 and another 19 of them were less than 50. Multiple analytes displayed the property of increasing variability with concentration that may be characteristic of most intermediary metabolites. Linear regression line slopes for CVb vs. concentration were tabulated to assist the use of this information. The 40 analytes display biological variability in the range of disease risk markers such as serum lipoprotein cholesterol concentrations, cancer markers and thyroid hormones. The likelihood of a single measurement being representative of the true mean concentration varies with the analyte and the level found. Data reported here demonstrate reliability of results of urinary organic acid profiling performed under the reported analytical conditions.

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5. Mody M, Belliveau JW. Speech and Language Impairments in Autism : Insights from Behavior and Neuroimaging. NAJ Med Sci. 2012 ; 5(3) : 157-61.

A failure to develop language is one of the earliest signs of autism. The ability to identify the neural signature of this deficit in very young children has become increasingly important, given that the presence of speech before five years of age is the strongest predictor for better outcomes in autism. This review consolidates what is known about verbal and preverbal precursors of language development as a framework for examining behavioral and brain anomalies related to speech and language in autism spectrum disorders. Relating the disruptions in the speech network to the social deficits observed will provide promising targets for behavioral and pharmacological interventions in ASD.

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6. Garcia G. Antipsychotics Medication Use and its Metabolic Challenges for Autism Spectrum Disorders. NAJ Med Sci. 2012 ; 5(3) : 162-6.

There has been a growth in the knowledge about autism and autism spectrum disorders (ASD) in the United States and worldwide. As the prevalence rates have grown, so has the awareness of the need to develop effective and safe treatments for children with ASD. In addition to the behavioral interventions such as applied behavioral analysis, parent training, and adaptive skills training, there has been an increase in the use of medications for the treatment of ASD symptoms. At this time, there are two antipsychotics approved by the FDA for the use in children with ASD, risperidone and aripiprazol. Generally, the use of this classification has been more recently associated with changes in metabolic function in children. The purpose of this article is to review briefly the use of psychotropic medications, focusing on antipsychotics, and discuss the metabolic risks and risk factors associated with their use within children with autism.

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7. Hartley-McAndrew M, Weinstock A. Developments of Neuroimaging in Autism : Aims in approaching a Diagnostic Fingerprint . NAJ Med Sci. 2012 ; 5(3) : 167-71.

This review focuses on developments and ongoing advances in neuroimaging research that help to characterize the structural and neuronal phenotype of autism. Autism is a disorder in which early diagnosis is paramount in order to intervene and initiate therapies early. While there are limitations to current diagnostic modalities, a variety of neuroimaging techniques are emerging as possible objective means in providing an early bio-marker for the diagnosis of autism in those at risk.

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8. Stone WS, Haller CS, Hsi X. How Reversible is Social Dysfunction in Autistic Spectrum Disorders ?. NAJ Med Sci. 2012 ; 5(3) : 172-9.

Deficits in social function are among the core features of autism and other neurodevelopmental disorders. Recent conceptualizations of social cognition include multiple dimensions, including theory of mind, social perception, social knowledge, social attribution, and emotional perception and expression. Recent studies show that social cognition, like ‘standard’ cognition, is related to functional outcomes in neurodevelopmental disorders such as schizophrenia and autism, by mediating effects of other variables (e.g. standard cognition), or by acting independently. This representative discussion reviews social cognition and focuses on its relationships with autistic spectrum disorders (ASD), and with more standard measures of cognition. It then reviews attempts to improve outcomes in autism over the last 25 years. Useful treatments for ASDs focus are initiated early, have multiple treatment targets, and are comprehensive as possible. In this framework, social cognition offers a set of interrelated treatment targets that are important because they affect outcome, and are promising because they are at least partially distinct from more standard measures of cognition in their effects on outcome.

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9. Mumper E. A Call For Action : Recognizing and Treating Medical Problems of Children with Autism. NAJ Med Sci. 2012 ; 5(3) : 180-4.

The care of children with autism requires attention to medical problems which they may develop. Significant subsets of children with autism have intestinal inflammation, digestive enzyme abnormalities, metabolic impairments, oxidative stress, mitochondrial dysfunction, and immune problems which range from immune deficiency to hypersensitivity to autoimmunity. The authors work within a paradigm that views autism as a body wide, multi-system disorder. Behavioral symptoms may be signs of underlying pain in children with communication problems and require attention to underlying pathology rather than relying on behavioral measures to extinguish the behaviors. Opportunities for improving quality of life and autistic symptoms are found by using a combination of detailed histories, physical exams and laboratory evaluations to uncover clues about underlying medical issues that need to be treated. The current prevalence of autism and the suffering of the children and families involved call for action by primary care physicians working in collaboration with researchers, specialists and parents if these children are to receive appropriate medical care.

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10. Kong X, Chen L, Wang X. Future Directions on Autism Treatment. NAJ Med Sci. 2012 ; 5(3) : 185-8.

Autism spectrum disorder (ASD) affects up to 1 in 88 American children and the cause is largely unknown. The latest research showed encouraging results on using metabotropic glutamate receptor 5 (mGluR5) blockers in mice models of autism. It raised hope for innovative pharmacological intervention for this neurodevelopmental disorder and generated guarded excitement in the autism community. Further basic research is needed to understand the roles of glutamate and other neurotransmitters, such as GABA and oxytocin, in the pathophysiology of ASD. In the meantime, multicenter randomized controlled clinical trials are potentially on the horizon to curb or reverse the core symptoms of autism.

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11. Lee DYW, Kong X. Potential Treatment of Autism with Traditional Chinese Medicine. NAJ Med Sci. 2012 ; 5(3) : 189-92.

Autism is a complex neurological disorder of largely unknown cause. According to recent epidemiologic studies, autism spectrum disorders are diagnosed in one of 88 children in the United States and cost more than $90 billion a year nationwide. There is no known medical cure. Four major drug categories are regularly used for symptomatic treatment ; but because of large individual differences among patients, efficacy is quite limited. A recent study showed that autism may be accompanied by abnormalities in the inflammatory response system, specifically increases in the cytokines IL-6, IL-10, and TNF- ? measured in whole blood. Clinical studies have also demonstrated that increased cytokines correlates well with GI symptoms. For instance, IL-1 ?, mainly produced by blood monocytes, is elevated in nearly 100% of autistic children. We have studied extensively the traditional Chinese medicine Huo Luo Xiao Ling Dan (HLXL) for the treatment of osteoarthritis, an inflammatory and autoimmune disease. In an animal model, we demonstrated that suppression of arthritis was associated with significant alterations in the T-cell proliferative and cytokine responses. There was a reduction in the level of the pro-inflammatory cytokines IL-17 and IL-1 ? and enhancement of the anti-inflammatory cytokine IL-10. We believe that HLXL may represent an alternative and complementary therapy for the treatment of autism.

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12. Baker SM. Autism Spectrum : New Metaphor – New Paradigm of Illness. NAJ Med Sci. 2012 ; 5(3) : 193-7.

This commentary reflects on the attachment of the word “spectrum” in the past decade to autism, a disorder with etiologies that have, in previous decades, been uniquely controversial – leaving parents to float between various medical opinions. Spectrum is an apt metaphor for medical thinking in which the individual, not the disease, is the target of treatment. Its use may, however, deprive patients and parents of the security offered by the conventional notion of a well defined “disease entity. ” The spectrum metaphor will serve medical language’s aim of precision if information technology can endow its spatial meaning with detail, accuracy and structure. When given place and proximity patients’ narrative and laboratory descriptions provide patients, practitioners, and researchers a collective instrument – a “macrosope” – for letting the data talk about etiology and options for treatment. “Autism Spectrum Disorder” (ASD) has entered common parlance over the recent decade. Parents of newly diagnosed children feel that their child is more lost than found by a term, spectrum, that lacks the precision of a diagnostic entity. For physicians and scientists ASD’s spatial reference of “spectrum” may call attention to our lack of a system of scientific notation for capturing the many details that may be passed-by in the rush to the terminal branch of the differential diagnosis tree. Those details of medical narrative provide the basis for giving each patient a point in a conceptual space. That space differs from traditional nomenclature of disease by inviting information technology to find new ways to capture, store, analyze and report the patient’s story. The author describes an invention and its application in a web-based system, The system functions as a “macroscope” revealing patterns that answer questions we might not otherwise know to ask. As such it fits within the model of what has been called Fourth Paradigm Data Intensive Science and offers the potential for integration with laboratory data and expansion to practice and research in all chronic illness.

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