1. Allman MJ, Deleon IG, Wearden JH. {{Psychophysical assessment of timing in individuals with autism}}. {Am J Intellect Dev Disabil};2011 (Mar);116(2):165-178.

Abstract Perception of time, in the seconds to minutes range, is not well characterized in autism. The required interval timing system (ITS) develops at the same stages during infancy as communication, social reciprocity, and other cognitive and behavioral functions. The authors used two versions of a temporal bisection procedure to study the perception of duration in individuals with autism and observed quantifiable differences and characteristic patterns in participants’ timing functions. Measures of timing performance correlated with certain autism diagnostic and intelligence scores, and parents described individuals with autism as having a poor sense of time. The authors modeled the data to provide a relative assessment of ITS function in these individuals. The implications of these results for the understanding of autism are discussed.

2. Feldman MA, Ward RA, Savona D, Regehr K, Parker K, Hudson M, Penning H, Holden JJ. {{Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Mar 9)

We developed and evaluated a new parent report instrument-Parent Observation of Early Markers Scale (POEMS)-to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1-24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS.

3. Harris JC. {{Brain and behavior in fragile x syndrome and idiopathic autism}}. {Arch Gen Psychiatry};2011 (Mar);68(3):230-231.

4. Kantojarvi K, Kotala I, Rehnstrom K, Ylisaukko-Oja T, Vanhala R, von Wendt TN, von Wendt L, Jarvela I. {{Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)}}. {Autism Res};2011 (Feb 22)

About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPL(all) value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33.

5. Kim SH, Lord C. {{New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of Age}}. {J Autism Dev Disord};2011 (Mar 8)

Autism Diagnostic Interview-Revised (Rutter et al. in Autism diagnostic interview-revised. Western Psychological Services, Los Angeles, 2003) diagnostic algorithms specific to toddlers and young preschoolers were created using 829 assessments of children aged from 12 to 47 months with ASD, nonspectrum disorders, and typical development. The participants were divided into three more homogeneous groups by language level and age. Items that best differentiated the diagnostic groups were selected and arranged into domains based on multifactor item-response analyses. Using the new algorithms for toddlers and preschool children, we were able to improve sensitivity and specificity compared to the previously developed algorithm.

6. Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. {{Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism}}. {Proc Natl Acad Sci U S A};2011 (Mar 7)

Glutamate receptor interacting protein 1 (GRIP1) is a neuronal scaffolding protein that interacts directly with the C termini of glutamate receptors 2/3 (GluA2/3) via its PDZ domains 4 to 6 (PDZ4-6). We found an association (P < 0.05) of a SNP within the PDZ4-6 genomic region with autism by genotyping autistic patients (n = 480) and matched controls (n = 480). Parallel sequencing identified five rare missense variants within or near PDZ4-6 only in the autism cohort, resulting in a higher cumulative mutation load (P = 0.032). Two variants correlated with a more severe deficit in reciprocal social interaction in affected sibling pairs from proband families. These variants were associated with altered interactions with GluA2/3 and faster recycling and increased surface distribution of GluA2 in neurons, suggesting gain-of-function because GRIP1/2 deficiency showed opposite phenotypes. Grip1/2 knockout mice exhibited increased sociability and impaired prepulse inhibition. These results support a role for GRIP in social behavior and implicate GRIP1 variants in modulating autistic phenotype.

7. Rommelse NN, Geurts HM, Franke B, Buitelaar JK, Hartman CA. {{A review on cognitive and brain endophenotypes that may be common in autism spectrum disorder and attention-deficit/hyperactivity disorder and facilitate the search for pleiotropic genes}}. {Neurosci Biobehav Rev};2011 (Mar 4)

We propose to bring together the hitherto rather separate research fields of Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), and argue that by contrasting and combining findings of the endophenotypes of ASD and ADHD new insights can be gained into the etiology and pathophysiology of these two disorders. Given the highly heritable nature of both disorders, studies of the genes explaining the shared origins of the two neurodevelopmental disorders seem particularly called for. Instead of the clinical diagnosis, using neurocognitive measures as (endo)phenotypes that index genetic liability appears a powerful tool in gene finding. We, therefore, extensively reviewed the literature and not only included research wherein ASD and ADHD were compared within a single study, but extended our search also to the separate lines of cognitive neuroscience research. We discuss which cognitive and brain measures will be useful in future genetic studies targeting pleiotropic genes for ASD and ADHD. By specifying the most promising endophenotypic measures we chart the future course for endophenotypic research in ASD and ADHD. We also discuss the various models that may explain the frequent co-occurrence of ASD and ADHD.

8. Schwichtenberg AJ, Iosif AM, Goodlin-Jones B, Tang K, Anders T. {{Daytime sleep patterns in preschool children with autism, developmental delay, and typical development}}. {Am J Intellect Dev Disabil};2011 (Mar);116(2):142-152.

Abstract The present study examined daytime sleep patterns in 3 groups of preschool-aged children: children with autism, children with developmental delay, and children who were developing typically. Sleep was assessed in 194 children via actigraphy and parent-report sleep diaries for 7 consecutive days on 3 separate occasions over 6 months. Children with autism napped less often and for shorter periods of time than children with developmental disability, with whom they were matched on chronologic age. Children with developmental disabilities napped more like children in the typically developing group, who were, on average, 6 months younger. Each group displayed an expected shift in daytime sleep as more children matured out of their naps.

9. Suzuki K, Sugihara G, Ouchi Y, Nakamura K, Tsujii M, Futatsubashi M, Iwata Y, Tsuchiya KJ, Matsumoto K, Takebayashi K, Wakuda T, Yoshihara Y, Suda S, Kikuchi M, Takei N, Sugiyama T, Irie T, Mori N. {{Reduced acetylcholinesterase activity in the fusiform gyrus in adults with autism spectrum disorders}}. {Arch Gen Psychiatry};2011 (Mar);68(3):306-313.

CONTEXT: Both neuropsychological and functional magnetic resonance imaging studies have shown deficiencies in face perception in subjects with autism spectrum disorders (ASD). The fusiform gyrus has been regarded as the key structure in face perception. The cholinergic system is known to regulate the function of the visual pathway, including the fusiform gyrus. OBJECTIVES: To determine whether central acetylcholinesterase activity, a marker for the cholinergic system, is altered in ASD and whether the alteration in acetylcholinesterase activity, if any, is correlated with their social functioning. DESIGN: Using positron emission tomography and a radiotracer, N -[(11)C]methyl-4-piperidyl acetate ([(11)C]MP4A), regional cerebrocortical acetylcholinesterase activities were estimated by reference tissue-based linear least-squares analysis and expressed in terms of the rate constant k(3). Current and childhood autism symptoms in the adult subjects with ASD were assessed by the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised, respectively. Voxel-based analyses as well as region of interest-based methods were used for between-subject analysis and within-subject correlation analysis with respect to clinical variables. SETTING: Participants recruited from the community. PARTICIPANTS: Twenty adult subjects with ASD (14 male and 6 female; age range, 18-33 years; mean [SD] intelligence quotient, 91.6 [4.3]) and 20 age-, sex-, and intelligence quotient-matched healthy controls. RESULTS: Both voxel- and region of interest-based analyses revealed significantly lower [(11)C]MP4A k(3) values in the bilateral fusiform gyri of subjects with ASD than in those of controls (P < .05, corrected). The fusiform k(3) values in subjects with ASD were negatively correlated with their social disabilities as assessed by Autism Diagnostic Observation Schedule as well as Autism Diagnostic Interview-Revised. CONCLUSIONS: The results suggest that a deficit in cholinergic innervations of the fusiform gyrus, which can be observed in adults with ASD, may be related to not only current but also childhood impairment of social functioning.

10. Zamagni E, Dolcini C, Gessaroli E, Santelli E, Frassinetti F. {{Scared by you: Modulation of bodily-self by emotional body-postures in autism}}. {Neuropsychology};2011 (Mar);25(2):270-276.

Objective: Bodily self-recognition is one aspect of our ability to distinguish between self and others and is central to effective socialization. Here we explored the influence of emotional body postures on bodily self-processing in typically developing (TD) as well as in high-functioning ASD children. Method: Subjects’ bodies were photographed while expressing endogenously- (self-generated, Experiment 1) or exogenously-driven body emotions (imitated upon request, Experiment 2). Postures conveying positive (happiness), negative (fearful) and neutral valences were used. These pictures served as stimuli in a visual matching-to-sample task with self and others’ body-images. Results: A similar self-versus-others advantage was found in TD and in ASD children, since participants were faster with stimuli representing their own than others’ body. This « self-advantage » was modulated by self-expressed emotional body postures being present with pictures of happy and neutral, but not fearful body images. This modulation was stronger when emotional postures were endogenously rather than exogenously driven. Moreover, faster responses were observed for others’ fearful rather than happy or neutral body images in both groups. Conclusions: The bodily self-advantage is a low-level function present in typically developing (TD) and in high-functioning ASD children. Body postures, especially when they are endogenously generated, modulate the self and others’ body processing. The advantage for processing others’ fearful, comparing to others’ happy and neutral, body postures may have played a crucial evolutionary role for species survival. (PsycINFO Database Record (c) 2011 APA, all rights reserved).