1. Joshi G, Petty CR, Fried R, Wozniak J, Micco JA, Henin A, Doyle R, Galdo M, Kotarski M, Caruso J, Meller B, Faraone SV, Biederman J. {{Discriminant and concurrent validity of a simplified DSM-based structured diagnostic instrument for the assessment of autism spectrum disorders in youth and young adults}}. {BMC psychiatry}. 2011 Dec 30;11(1):204.
ABSTRACT: BACKGROUND: To evaluate the concurrent and discriminant validity of a brief DSM-based structured diagnostic interview for referred individuals with autism spectrum disorders (ASDs). METHODS: To test concurrent validity, we assessed the structured interview’s agreement in 123 youth with the expert clinician assessment and the Social Responsiveness Scale (SRS). Discriminant validity was examined using 1563 clinic-referred youth. RESULTS: The structured diagnostic interview and SRS were highly sensitive indicators of the expert clinician assessment. Equally strong was the agreement between the structured interview and SRS. We found evidence for high specificity for the structured interview. CONCLUSIONS: A simplified DSM-based ASD structured diagnostic interview could serve as a useful diagnostic aid in the assessment of subjects with ASDs in clinical and research settings.
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2. Lauziere V, Lessard M, Meunier AJ, McCoy M, Bergeron LJ, Corbin F. {{Unusual subcellular confinement of the fragile X mental retardation protein (FMRP) in human platelets: Complete polyribosome dissociation}}. {Biochimie}. 2011 Dec 21.
FMRP, a RNA-binding protein, was shown in association with polyribosomes in every cell types studied so far, suggesting a ubiquitous role as a translational regulator. Platelets are known for their limited protein synthesis potential, current investigations put forward that RNA metabolism is more developed than previously thought. Unexpectedly, our results provide evidence that FMRP, in platelets, is not constitutively associated with heavy particles, such as polyribosomes, and possesses a sedimentation coefficient of less than 10S contrasting with values of 150 to 500S as reported in other cell types. In summary, this report brings to light platelets as a simple human biological system to delineate novel FMRP functions as well as strengthening our comprehension of the pathophysiology of the fragile X syndrome resulting from the absence of FMRP.
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3. Russell G, Norwich B. {{Dilemmas, diagnosis and de-stigmatization: Parental perspectives on the diagnosis of autism spectrum disorders}}. {Clinical child psychology and psychiatry}. 2012 Jan 3.
Many children who display autistic behaviours at clinical levels do not receive a formal diagnosis. This study used qualitative methods to examine parental influence in pursuing or avoiding a diagnosis of autism spectrum disorder (ASD). The aim was to explore the function of ASD diagnosis for parents, and examine whether a diagnosis affected how parents perceived ASD. Seventeen parents participated in in-depth semi-structured interviews, which were analyzed using thematic and grounded theory approaches. Data analysis revealed dilemmas faced by parents: whether to act to retain the ‘normal’ status of the child or to ‘normalize’ the child through diagnosis and subsequent remediation. Parents who had received an ASD diagnosis for their children became proactive in trying to reduce stigmatization of ASD more widely, and in some cases actively advocating ASD diagnosis to other parents. Thus their actions may make it more likely that others will opt for diagnosis in the future.
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4. Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, Ogilvie C, Ahn JW, Drmic I, Senman L, Chrysler C, Thompson A, Russell C, Prasad A, Walker S, Pinto D, Marshall CR, Stavropoulos DJ, Zwaigenbaum L, Fernandez BA, Fombonne E, Bolton PF, Collier DA, Hodge JC, Roberts W, Szatmari P, Scherer SW. {{Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder}}. {American journal of human genetics}. 2011 Dec 28.
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses.
