1. {{The international meeting for autism research}}. {Autism Res};2011 (Feb);4(1):88.
2. {{International society for autism research news}}. {Autism Res};2011 (Feb);4(1):87.
3. Altieri L, Neri C, Sacco R, Curatolo P, Benvenuto A, Muratori F, Santocchi E, Bravaccio C, Lenti C, Saccani M, Rigardetto R, Gandione M, Urbani A, Persico AM. {{Urinary p-cresol is elevated in small children with severe autism spectrum disorder}}. {Biomarkers};2011 (Feb 18)
Several studies have described in autistic patients an overgrowth of unusual gut bacterial strains, able to push the fermentation of tyrosine up to the formation of p-cresol. We compared levels of urinary p-cresol, measured by high-performance liquid chromatography-ultraviolet, in 59 matched case-control pairs. Urinary p-cresol was significantly elevated in autistic children smaller than 8 years of age (p < 0.01), typically females (p < 0.05), and more severely affected regardless of sex (p < 0.05). Urinary cotinine measurements excluded smoking-related hydrocarbon contaminations as contributors to these differences. Hence, elevated urinary p-cresol may serve as a biomarker of autism liability in small children, especially females and more severely affected males.
4. Andersen LM, Naswall K, Manouilenko I, Nylander L, Edgar J, Ritvo RA, Ritvo E, Bejerot S. {{The Swedish Version of the Ritvo Autism and Asperger Diagnostic Scale: Revised (RAADS-R). A Validation Study of a Rating Scale for Adults}}. {J Autism Dev Disord};2011 (Feb 16)
There is a paucity of diagnostic instruments for adults with autism spectrum disorder (ASD). This study evaluates the psychometric properties of the Swedish version of the Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), an 80-item self-rating scale designed to assist clinicians diagnosing ASD in adults. It was administered to 75 adults with ASD and 197 comparison cases. Also, a subset completed the Autism Spectrum Quotient (AQ). Three out of four subscales had high internal consistency. Sensitivity was 91% and specificity was 93%. The ASD subjects had significantly higher mean scores on all subscales. ASD females had higher scores than ASD males on the sensory motor subscale, a dimension not included in the AQ. RAADS-R showed promising test re-test reliability.
5. Eagleson KL, Campbell DB, Thompson BL, Bergman MY, Levitt P. {{The autism risk genes MET and PLAUR differentially impact cortical development}}. {Autism Res};2011 (Feb);4(1):68-83.
Candidate risk genes for autism spectrum disorder (ASD) have been identified, but the challenge of determining their contribution to pathogenesis remains. We previously identified two ASD risk genes encoding the receptor tyrosine kinase MET and the urokinase plasminogen activator receptor (PLAUR), which is thought to modulate availability of the MET ligand. We also reported a role for Met signaling in cortical interneuron development in vitro and a reduction of these neurons in uPAR (mouse ortholog of PLAUR) null mice, suggesting that disruption of either gene impacts cortical development similarly. Here, we modify this conclusion, reporting that interneuron numbers are unchanged in the neocortex of Met(fx/fx) / Dlx5/6(cre) mice, in which Met is ablated from cells arising from the ventral telencephalon (VTel). Consistent with this, Met transcript is not detected in the VTel during interneuron genesis and migration; furthermore, during the postnatal period of interneuron maturation, Met is co-expressed in glutamatergic projection neurons, but not interneurons. Low levels of Met protein are expressed in the VTel at E12.5 and E14.5, likely reflecting the arrival of Met containing corticofugal axons. Met expression, however, is induced in E12.5 VTel cells after 2 days in vitro, perhaps underlying discrepancies between observations in vitro and in Met(fx/fx) / Dlx5/6(cre) mice. We suggest that, in vivo, Met impacts the development of cortical projection neurons, whereas uPAR influences interneuron maturation. An altered balance between excitation and inhibition has been postulated as a biological mechanism for ASD; this imbalance could arise from different risk genes differentially affecting either or both elements.
6. Ey E, Leblond CS, Bourgeron T. {{Behavioral profiles of mouse models for autism spectrum disorders}}. {Autism Res};2011 (Feb);4(1):5-16.
Autism spectrum disorders (ASD) are characterized by impairments in reciprocal social communication, and stereotyped verbal and nonverbal behaviors. In approximately 10-25% of the affected individuals, a genetic mutation associated with the condition can be identified. Recently, mutations altering synapse formation, cellular/synaptic growth rate and regulation of excitatory and inhibitory currents were identified in patients with intellectual disability, typical autism, Asperger syndrome or neurological syndromes associated with autistic traits. Following these genetic findings, mouse models carrying mutations similar to those identified in patients have been generated. These models offer the opportunity to investigate in vivo the physiological and behavioral consequences of the mutations. Here, we review the existing data on the phenotypes of mice carrying mutations in genes associated with ASD including neuroligin, neurexin and Shank mutant mice as well as the Fmr1, Mecp2, Ube3a, Nf1, Pten and Tsc1/Tsc2 mutant mice. The diversity and complexity of the phenotype of these mouse models reflect the broad range of phenotypes observed in patients with ASD. Remarkably, results from therapeutic approaches (e.g., modulation of gene expression, administration of pharmacological and nonpharmacological substances, enriched environment) are encouraging since some behavioral alterations could be reversed even when treatment was performed on adult mice. These ongoing studies should therefore increase our understanding of the biological alterations associated with ASD as well as the development of knowledge-based treatments.
7. Fugard AJ, Stewart ME, Stenning K. {{Visual/verbal-analytic reasoning bias as a function of self-reported autistic-like traits: A study of typically developing individuals solving Raven’s Advanced Progressive Matrices}}. {Autism};2011 (Feb 16)
People with autism spectrum condition (ASC) perform well on Raven’s matrices, a test which loads highly on the general factor in intelligence. However, the mechanisms supporting enhanced performance on the test are poorly understood. Evidence is accumulating that milder variants of the ASC phenotype are present in typically developing individuals, and that those who are further along the autistic-like trait spectrum show similar patterns of abilities and impairments as people with clinically diagnosed ASC. We investigated whether self-reported autistic-like traits in a university student sample, assessed using the Autism-Spectrum Quotient (AQ; Baron-Cohen, Wheelwright, Skinner, et al., 2001), predict performance on Raven’s Advanced Progressive Matrices. We found that reporting poorer social skills but better attention switching predicted a higher Advanced matrices score overall. DeShon, Chan, and Weissbein (1995) classified Advanced matrices items as requiring a visuospatial, or a verbal-analytic strategy. We hypothesised that higher AQ scores would predict better performance on visuospatial items than on verbal-analytic items. This prediction was confirmed. These results are consistent with the continuum view and can be explained by the enhanced perceptual functioning theory of performance peaks in ASC. The results also confirm a new prediction about Raven’s Advanced Progressive Matrices performance in people with ASC.
8. Ingersoll B, Hopwood CJ, Wainer A, Brent Donnellan M. {{A Comparison of Three Self-Report Measures of the Broader Autism Phenotype in a Non-Clinical Sample}}. {J Autism Dev Disord};2011 (Feb 18)
Three self-report measures of the broader autism phenotype (BAP) were evaluated in terms of their internal consistency, distribution of scores, factor structure, and criterion-related validity in a non-clinical sample. All measures showed a continuous distribution. The SRS-A and BAPQ showed expected sex differences and were superior to the AQ in terms of internal consistency. The proposed factor structure of the BAPQ replicated better than the proposed structures of the other measures. All measures showed evidence of criterion validity via correlations with related constructs and each measure incremented the others in predicting related constructs. However, the SRS-A and BAPQ were generally stronger in this domain. Recommendations for the use of these instruments for measuring the BAP in non-clinical populations are discussed.
9. Khetrapal N. {{Overlap of autism and seizures: understanding cognitive comorbidity}}. {Mens Sana Monogr};2010 (Jan);8(1):122-128.
This article introduces the concept of ‘cognitive comorbidity,’ which lays emphasis on common cognitive deficits that cut across different disorders. The concept is illustrated with the help of two commonly reported overlapping conditions (autism and epilepsy). It is further explained by concentrating on two important cognitive processes of facial emotional recognition and emotional memory, shown to be compromised in both conditions; and their underlying neural substrates. Cognitive comorbidity is then contrasted with ‘comorbidity,’ a term which is more commonly used for describing cognitive disorders. The paper closes by providing directions for rehabilitative and theoretical efforts that could be inspired by the newly introduced concept.
10. Kuehn BM. {{Scientists probe oxytocin therapy for social deficits in autism, schizophrenia}}. {JAMA};2011 (Feb 16);305(7):659-661.
11. Lake JK, Humphreys KR, Cardy S. {{Listener vs. speaker-oriented aspects of speech: Studying the disfluencies of individuals with autism spectrum disorders}}. {Psychon Bull Rev};2011 (Feb);18(1):135-140.
This study investigates the role of disfluencies such as « um » or « uh » in conversation to discern whether these features of speech serve listener- or speaker-oriented functions by looking at their occurrence (or lack of occurrence) in the speech of participants with autism. Since the characteristic egocentricity of individuals with autism means they should engage in minimal listener-oriented behavior, they are a useful group to differentiate these functions. Transcription, analysis and categorization of 26 spontaneous language samples were derived from age-matched native English-speaking controls and high-functioning individuals with Autism Spectrum Disorders (ASDs). Results showed that individuals with ASD produced fewer filled-pause words (ums and uhs) and revisions than controls, but more silent pauses and disfluent repetitions. Filled-pause words therefore appear to be listener-oriented features of speech.
12. Lang R, Mahoney R, El Zein F, Delaune E, Amidon M. {{Evidence to practice: treatment of anxiety in individuals with autism spectrum disorders}}. {Neuropsychiatr Dis Treat};2011;7:27-30.
CLINICAL QUESTION: What treatment improves social interactions and reduces reports of anxiety symptoms in individuals with autism spectrum disorders (ASD) and a co-occurring anxiety disorder? RESULTS: Systematic reviews and randomized clinical trials suggest that cognitive behavior therapy in tandem with direct instruction of social skills using applied behavior analysis intervention components may be effective for treating anxiety in individuals with high functioning ASD. For individuals with ASD, an anxiety disorder, and an intellectual disability, systematic desensitization may be effective. IMPLEMENTATION: Intervention should emphasize teaching social skills. Reinforcers (ie, rewards based upon the client’s interests) should be used to encourage participation in therapy. Treatment should incorporate visual aides and family involvement. Intervention components involving abstract concepts, visualization, and discussions of emotions are less useful given difficulties in abstract reasoning and communication inherent to ASD.
13. Lee EY, Chung HJ, Ki CS, Yoo JH, Choi JR. {{A Novel Mutation in the MECP2 Gene in a Korean Patient with Rett Syndrome}}. {Ann Clin Lab Sci};2011 (Fall);41(1):93-96.
Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT. Using DNA samples from a RTT patient and her parents, we sequenced three exons and flanking intron regions of the MECP2 gene using the polymerase chain reaction. Sequencing of the MECP2 gene in the proband revealed a novel 41-base pair deletion in exon 4 (c.1152_1192del41). This mutation resulted in premature termination of the 487 amino acid protein at the 390th codon, predicting a partial loss of the C-terminal domain. We did not observe this mutation in either parent of the RTT patient, but further studies are needed to evaluate the possibility of germline mosaicism.
14. Minshew N, McFadden K. {{Commentary for Special Issue of Autism Research on Mouse Models in ASD: A Clinical Perspective}}. {Autism Res};2011 (Feb);4(1):1-4.
15. Mitrani JL. {{Trying to enter the long black branches: Some technical extensions of the work of Frances Tustin for the analysis of autistic states in adults}}. {Int J Psychoanal};2011 (Feb);92(1):21-42.
The author suggests a number of technical extensions/clinical applications of Frances Tustin’s work with autistic children, which are applicable to the psychoanalysis of neurotic, borderline and psychotic adults. These are especially relevant to those individuals in whom early uncontained happenings (Bion) have been silently encapsulated through the use of secretive autosensual maneuvers related to autistic objects and shapes. Although such encapsulations may constitute obstacles to emotional and intellectual development, are consequential in both the relational and vocational spheres for many analysands and present unending challenges for their analysts, the author demonstrates ways in which it may be possible to detect and to modify these in a transference-centered analysis. A detailed process of differential diagnosis between autistic states and neurotic/narcissistic (object-related) states in adults is outlined, along with several clinical demonstrations of the handling of a variety of elemental terrors, including the ‘dread of dissolution.’ The idiosyncratic and perverse use of the analytic setting and of the analyst and issues of the analysand’s motivations are considered and illustrated. A new model related to ‘objects in the periphery’ is introduced as an alternative to the more classical Kleinian models regarding certain responses and/or non-responses to transference interpretation. Issues a propos the countertransference are also taken up throughout.
16. Ridge K, Guerin S. {{Irish clinician’s views of interventions for children with autistic spectrum disorders}}. {Autism};2011 (Feb 16)
The current study investigated clinicians’ perspectives on the effectiveness of interventions designed to support the development of children with autistic spectrum disorders (ASDs). Researchers developed a semi-structured interview which was administered to 11 clinicians involved in the assessment and treatment of ASDs (5 = clinical psychologists, 6 = psychiatrists). Content analysis of qualitative data revealed that Irish clinicians typically endorse an eclectic approach to treatment, combining facets of different methods of interventions in a complementary fashion. The process that clinicians engaged in when evaluating modes of treatment was assessed. Significant variation was observed in how clinicians merge clinical experience with empirical evidence. Challenges which clinicians face in assessing individuals on the autistic spectrum, such as the proliferation of misinformation on interventions, as well as the role of parents in treatment, were also discussed within the interviews. The implications of the findings for understanding the process of selecting interventions for children with ASDs are discussed.
