Neuropsychiatry : Recent progress in autism spectrum disorder (Juin 2013)

vendredi 2 août 2013

La revue Neuropsychiatry consacre son numéro de juin 2013 à l’autisme.

1. McDougle CJ. Recent progress in autism spectrum disorder. Neuropsychiatry ;2013 (2013/04/01) ;3(2):119-122.

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2. Georgiades S, Szatmari P, Boyle M. Importance of studying heterogeneity in autism. Neuropsychiatry ;2013 (2013/04/01) ;3(2):123-125.

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3. Mandy W. Upcoming changes to autism spectrum disorder : evaluating DSM-5. Neuropsychiatry ;2013 (2013/04/01) ;3(2):127-130.

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4. News. Neuropsychiatry ;2013 (2013/04/01) ;3(2):131-134.

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5. Alpert JE. Journal Watch : Our expert highlights the most important research articles across the spectrum of topics relevant to the field of neuropsychiatry. Neuropsychiatry ;2013 (2013/04/01) ;3(2):135-137.

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6. Dawson G. Interview : A career devoted to improving the lives of people with autism. Neuropsychiatry ;2013 (2013/04/01) ;3(2):139-145.

Professor Dawson is Chief Science Officer for Autism Speaks (NY, USA) where she oversees US$25–30 million in annual autism research funding. She is Research Professor of Psychiatry at the University of North Carolina at Chapel Hill (NC, USA), Adjunct Professor of Psychiatry at Columbia University (NY, USA) and Professor Emeritus of Psychology at the University of Washington (WA, USA). Dawson is a licensed clinical psychologist and researcher, and has published over 200 scientific articles and nine books related to autism, with a focus on early detection and intervention, brain development and plasticity. She developed and empirically validated the Early Start Denver Model, the first comprehensive intervention for toddlers with autism with Sally Rogers. From 1996 to 2008, Dawson was Founding Director of the University of Washington Autism Center where she directed three consecutive NIH Autism Center of Excellence research programs on genetics, neuroimaging, early diagnosis and treatment. She also oversaw a multidisciplinary autism treatment center serving children from infancy through to young adulthood. Dawson has been a consultant to the NIH since 1989 and currently serves as a member of the Interagency Autism Coordinating Committee. She is a Fellow of the Association for Psychological Science, American Psychological Association, and Society of Clinical Child and Adolescent Psychology, and is on the editorial boards of four scientific journals. She has received numerous awards for her work, including a James McKeen Cattell Lifetime Achievement Award from the Association for Psychological Science, the Geoffrey Beene Rock Star of Science Award, and Autism Society Awards for Valuable Service, Research Contributions and Medical Professional of the Year. Dawson’s scientific studies were recognized by the NIH as one of the top scientific advances in autism research in 2007, 2008, 2009 and 2010, and her research on the effects of early intervention on brain activity of children with autism was recognized by TIME Magazine (NY, USA) as one of the top ten medical breakthroughs of 2012. Dawson received a PhD in developmental and child clinical psychology from the University of Washington and completed a clinical internship at the University of California Los Angeles Neuropsychiatric Institute (CA, USA).

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7. Ung D, Wood JJ, Ehrenreich-May J, Arnold EB, Fujii C, Renno P, Murphy TK, Lewin AB, Mutch PJ, Storch EA. Clinical characteristics of high-functioning youth with autism spectrum disorder and anxiety. Neuropsychiatry ;2013 (2013/04/01) ;3(2):147-157.

Aim & methods : Clinical characteristics were examined in 108 high-functioning youth (children with a full IQ scale of at least 70) with an autism spectrum disorder (ASD ; aged 7–15 years) who were presenting for inclusion in one of four clinical trials examining the efficacy of cognitive behavioral therapy in youth with ASD and anxiety. Results : We present baseline characteristics of this cohort, including prevalence rates of anxiety and comorbid disorders, and correlates of anxiety (e.g., comorbid diagnoses, impairment, anxiety severity and mental health services received) as a function of age and ASD diagnosis in treatment-seeking youth. Primary anxiety disorders were : 41.7% (n = 45) social phobia, 25.9% (n = 28) generalized anxiety disorder, 15.7% (n = 17) separation anxiety disorder, 12.0% (n = 13) obsessive–compulsive disorder and 4.6% (n = 5) specific phobia. Overall, 91.6% of participants (n = 99) met criteria for two or more anxiety disorders. Parents reported considerable functional impairment as measured by the Columbia Impairment Scale and anxiety severity as measured by the Pediatric Anxiety Rating Scale ; this did not statistically differ as a function of ASD diagnosis or age. Anxiety severity, the number of comorbid anxiety diagnoses and total comorbid diagnoses were directly associated with parent-reported child impairment. Youth with ASD and anxiety present as a heterogeneous cohort with significant impairments and complex diagnostic presentations. Conclusion : These data provide information about the nature of anxiety in youth with ASD, which may foster the development of tailored treatment protocols.

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8. Bauman MD, Schumann CM. Is ‘bench-to-bedside’ realistic for autism ? An integrative neuroscience approach. Neuropsychiatry ;2013 (2013/04/01) ;3(2):159-168.

Given the prevalence and societal impact of autism spectrum disorder (ASD), there is an urgent need to develop innovative treatments that will improve core social deficits, for which there is currently no reliable pharmacological treatment, prevention or cure. Development of novel biological interventions will depend upon the successful translation of basic neuroscience research into safe and effective medicines. This article outlines steps to bring neuroscience research from ‘the bench’ to treatment at ‘bedside’, from phenotyping the disorder to animal models to patient treatment. Although these steps appear simplistic, this is a daunting challenge because of the inherent complexity of the human brain, our lack of understanding of disease neurobiology underlying ASD, and the incredible heterogeneity of the disorder. For ASD, perhaps more than any other neurological or psychiatric disorder, progress will depend on integrative multidisciplinary approaches between basic scientists from varying neuroscience disciplines and clinicians to make ‘bench to bedside’ treatment a reality.

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9. Bearss K, Lecavalier L, Minshawi N, Johnson C, Smith T, Handen B, Sukhodolsky DG, Aman MG, Swiezy N, Butter E, Scahill L. Toward an exportable parent training program for disruptive behaviors in autism spectrum disorder. Neuropsychiatry ;2013 (2013/04/01) ;3(2):169-180.

Autism spectrum disorder (ASD) is a condition of early childhood onset characterized by profound deficits in social interaction, impaired communication and repetitive behavior. The prevalence of ASD is now estimated to be one in 100 children. As the number of identified cases of ASD has grown, so have the challenges of serving these children and their families. Unfortunately, the empirical foundation for many interventions for this population is not firmly established. Thus, there is a pressing need to conduct trials that will expand the evidence base and guide clinical treatment. Investigators from the Research Units in Pediatric Psychopharmacology (RUPP ; Indiana University, IN, USA ; Ohio State University, OH, USA ; University of Pittsburgh, PA, USA ; and Yale University, CT, USA) followed a treatment development model outlined by an National Institute of Mental Health ad hoc committee to develop and test a parent training treatment manual for children with ASD accompanied by disruptive behavior problems. This article describes the process of manual development and cross-site therapist training, establishment and maintenance of treatment integrity, assessment of treatment acceptance by families as well as primary outcomes of three trials. Results suggest the structured parent training program can be delivered with a high degree of fidelity within and across therapists, is acceptable to parents and can produce significant reductions in disruptive behaviors in children with ASD.

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10. Friedman NDB, Warfield ME, Parish SL. Transition to adulthood for individuals with autism spectrum disorder : current issues and future perspectives. Neuropsychiatry ;2013 (2013/04/01) ;3(2):181-192.

Rising autism prevalence rates have lent urgency to efforts to improve outcomes for individuals with autism spectrum disorder (ASD). Stakeholders have focused, in particular, on the transition to adulthood that can occur over a range of ages, typically between 18 and 22 years, and often corresponding to when the youth finishes secondary school. This represents a particularly vulnerable time, as the entitlements of the children’s service system end and young adults with ASD and their families encounter fragmented and underfunded systems of care. Research across multiple domains – education, vocational training and employment, social support and community involvement, housing and healthcare – reveals poor outcomes for this population during the transition to adulthood, suggesting that the current models of school-based transition planning are not meeting the needs of youth with ASD. This article highlights findings from some of this literature, examines financial aspects of the transition process, and offers our perspectives on current practices and recommendations for future study. An organized program of research coupled with aggressive policy and service system changes are needed to achieve more favorable transition outcomes for the ASD population.

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11. Mehta SQ, Nurmi EL. Genetic pathways to autism spectrum disorders. Neuropsychiatry ;2013 (2013/04/01) ;3(2):193-207.

Over the past several decades, progress in understanding the genetic basis of autism spectrum disorder (ASD) has dramatically altered our conception of its genetic architecture. Once believed to be an oligogenic disorder of common susceptibility variants, autism is now considered to be a collection of distinct ‘autisms’ marked by profound genetic heterogeneity. While twin and family studies have demonstrated a strong genetic etiology, genome-wide linkage and association studies have been limited by the extreme underlying heterogeneity. Genome-wide association studies have identified a few variants with small effects on ASD risk, but no common variants that clearly explain the few replicated linkage signals have been identified, suggesting that common variation is unlikely to play a central role. Recent successes in characterizing genetic risk have been driven by technological advances permitting the identification of de novo variants, both single-nucleotide variants and copy number variants, occurring in sporadic autism. The power to detect modest, rare inherited effects has been achieved through growing sample sizes through large collaborations ; however, the inherited risk of ASD remains largely uncharted. Several hundred risk genes for ASD have been proposed, many linked via shared physiologic pathways. While many investigators now estimate that the number of autism risk genes will reach the thousands, pathway analysis will facilitate the understanding of ASD pathophysiology, the identification of novel risk genes and the development of clinically actionable targets. Molecular diagnosis has become possible for many ASD subtypes and will continue to expand. Targeted interventions will be developed and individualized based on diagnostic data and the growing appreciation of the biology of autism.

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12. Wolff JJ, Piven J. On the emergence of autism : neuroimaging findings from birth to preschool. Neuropsychiatry ;2013 (2013/04/01) ;3(2):209-222.

By definition, autism spectrum disorder (ASD) emerges early in life. Core clinical symptoms generally appear after a child’s first birthday, and most children receive a diagnosis by the age of 4 years. This relatively narrow window of birth to age of onset affords the opportunity to chart the neurodevelopmental processes that give rise to ASD. Although much remains unknown, magnetic resonance brain imaging studies centered around the emergence of the disorder have yielded important clues about its pathogenesis. Prominent findings include evidence of increased cortical gray and white matter volumes, increased amygdala volumes, aberrant structural and functional connectivity, and atypical neurodevelopmental trajectories. Findings to date suggest a disrupted pattern of early brain development during an interval typically characterized by dramatic experience-dependent neurobehavioral development. Developmentally informed neuroimaging studies of ASD have the potential to improve our knowledge pertaining to etiology and early intervention.

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13. Mody M, Manoach DS, Guenther FH, Kenet T, Bruno KA, McDougle CJ, Stigler KA. Speech and language in autism spectrum disorder : a view through the lens of behavior and brain imaging. Neuropsychiatry ;2013 (2013/04/01) ;3(2):223-232.

Numerous studies have examined the brain bases of autism ; few, however, have specifically examined the neurobiology of speech and language impairments in children and adults on the spectrum, especially those characterized as low functioning or minimally verbal, due to compliance issues. With exciting new advances in the development of paradigms and tools, and the ability to image children at risk for autism as young as 6 months of age, functional neuroimaging (EEG, magnetoencephalography and functional MRI) holds tremendous promise. Findings of reduced activation and structural and functional connectivity in the language network, together with deficits in social reciprocity and motivation, and a preference for visual over verbal information, appear to be carving out a neurobiological profile for the impaired social–communication brain in autism.

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14. Matson JL, Williams LW. Differential diagnosis and comorbidity : distinguishing autism from other mental health issues. Neuropsychiatry ;2013 (2013/04/01) ;3(2):233-243.

Comorbid autism spectrum disorder (ASD) and other mental health conditions are common. However, the recognition and study of this clinical issue is of recent origin. It has recently emerged that certain disorders are more likely to occur with ASD, such as ADHD, depression, anxiety and conduct disorder/challenging behaviors. Developmental factors are significant in that, while ASD presents at a very early age, this is not often the case with the co-occurring disorders noted above. The clinician should be aware of and plan for these potential concerns. Tests that are specifically designed to assess for comorbid mental health issues among persons with ASD are being developed. These methods are recommended given what we know about high rates of comorbidity in this emerging field.

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15. Vahabzadeh A, Buxton D, McDougle CJ, Stigler KA. Current state and future prospects of pharmacological interventions for autism. Neuropsychiatry ;2013 (2013/04/01) ;3(2):245-259.

Autism spectrum disorder (ASD) is a group of heterogeneous developmental disorders manifesting in early childhood. They are associated with a range of core and associated symptoms, including repetitive behaviors, hyperactivity and irritability. This review will describe the current evidence for psychopharmacological management of individuals with ASD. Additionally, some of the future treatment prospects will be discussed. Safety issues, adverse effects and limitations of the current literature will also be highlighted.

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16. Acknowledgements. Neuropsychiatry ;2013 (2013/04/01) ;3(2):261-261.

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