1. Anderson BM, Schnetz-Boutaud N, Bartlett J, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL. {{Examination of association to autism of common genetic variationin genes related to dopamine}}. {Autism Res};2008 (Dec);1(6):364-369.
Autism is a severe neurodevelopmental disorder characterized by a triad of complications. Autistic individuals display significant disturbances in language and reciprocal social interactions, combined with repetitive and stereotypic behaviors. Prevalence studies suggest that autism is more common than originally believed, with recent estimates citing a rate of one in 150. Although multiple genetic linkage and association studies have yielded multiple suggestive genes or chromosomal regions, a specific risk locus has yet to be identified and widely confirmed. Because many etiologies have been suggested for this complex syndrome, we hypothesize that one of the difficulties in identifying autism genes is that multiple genetic variants may be required to significantly increase the risk of developing autism. Thus, we took the alternative approach of examining 14 prominent dopamine pathway candidate genes for detailed study by genotyping 28 single nucleotide polymorphisms. Although we did observe a nominally significant association for rs2239535 (P=0.008) on chromosome 20, single-locus analysis did not reveal any results as significant after correction for multiple comparisons. No significant interaction was identified when Multifactor Dimensionality Reduction was employed to test specifically for multilocus effects. Although genome-wide linkage scans in autism have provided support for linkage to various loci along the dopamine pathway, our study does not provide strong evidence of linkage or association to any specific gene or combination of genes within the pathway. These results demonstrate that common genetic variation within the tested genes located within this pathway at most play a minor to moderate role in overall autism pathogenesis.
2. Bailey A, Sutcliffe JS, Schultz R, Rogers S. {{Our vision for Autism Research}}. {Autism Res};2008 (Apr);1(2):71-72.
3. Bailey AJ. {{Postmortem studies of autism}}. {Autism Res};2008 (Oct);1(5):265.
4. Bailey AJ. {{The neuroscience of autism education}}. {Autism Res};2008 (Aug);1(4):207.
5. Bailey AJ, Karr V. {{Autism as a Global Challenge}}. {Autism Res};2008 (Jun);1(3):145-146.
6. Bolte S, Poustka F, Constantino JN. {{Assessing autistic traits: cross-cultural validation of the social responsiveness scale (SRS)}}. {Autism Res};2008 (Dec);1(6):354-363.
The Social Responsiveness Scale (SRS) is a quantitative measure of autistic traits in 4- to 18-year-olds, which has been used in behavior-genetic, epidemiological and intervention studies. The US standardization demonstrated a single-factor structure and good to excellent psychometric properties. The cross-cultural validity of the German adaptation of the parent-report SRS in a sample of N=1,436 children and adolescents: 838 typically developing and 527 clinical participants (160 with autism spectrum disorders (ASDs)) was examined. Internal consistency (0.91-0.97), test-retest reliability (0.84-0.97), interrater reliability (0.76 and 0.95) and convergent validity with the Autism Diagnostic Observation Schedule as well as the Autism Diagnostic Interview-Revised and Social Communication Questionnaire (0.35-0.58) were satisfactory to good. The SRS total score discriminated between ASD and other mental disorders. SRS scores proved to be sufficiently independent of general psychopathology. Principal component analyses yielded single-factor solutions for the normative and clinical subsamples. In addition, construct validity was ensured by consistent correlations with the Vineland Adaptive Behavior Scales, the Child Behavior Checklist and the Junior Temperament and Character Inventory. Normative SRS total scores for girls and boys as well as values for ASD were lower in the German sample, while scores for conduct disorder and attention deficit hyperactivity/conduct disorder combined were higher. Generally, cross-cultural validity of the SRS seems to be sufficiently assured for a large European sample. However, some discrepancies regarding SRS normative and clinical raw score distributions, reliability and validity findings are critically discussed.
7. Brune CW, Kim SJ, Hanna GL, Courchesne E, Lord C, Leventhal BL, Cook EH. {{Family-based association testing of OCD-associated SNPs of SLC1A1 in an autism sample}}. {Autism Res};2008 (Apr);1(2):108-113.
Reports identified the neuronal glutamate transporter gene, SLC1A1 (OMIM 133550, chromosome 9p24), as a positional and functional candidate gene for obsessive-compulsive disorder (OCD). The presence of obsessions and compulsions similar to OCD in autism, the identification of this region in a genome-wide linkage analysis of individuals with autism spectrum disorders (ASDs), and the hypothesized role of glutamate in ASDs make SLC1A1 a candidate gene for ASD as well. To test for association between SLC1A1 and autism, we typed three single nucleotide polymorphisms (SNPs, rs301430, rs301979, rs301434) previously associated with OCD in 86 strictly defined trios with autism. Family-Based Association Tests (FBAT) with additive and recessive models were used to check for association. Additionally, an rs301430-rs301979 haplotype identified for OCD was investigated. FBAT revealed nominally significant association between autism and one SNP under a recessive model. The G allele of rs301979 was undertransmitted (equivalent to overtransmission of the C allele under a dominant model) to individuals with autism (Z=-2.47, P=0.01). The G allele was also undertransmitted in the T-G haplotype under the recessive model (Z=-2.41, P=0.02). Both findings were also observed in the male-only sample. However, they did not withstand correction for multiple comparisons.
8. Campbell DB, Li C, Sutcliffe JS, Persico AM, Levitt P. {{Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder}}. {Autism Res};2008 (Jun);1(3):159-168.
A functional promoter variant of the gene encoding the MET receptor tyrosine kinase alters SP1 and SUB1 transcription factor binding, and is associated with autism spectrum disorder (ASD). Recent analyses of postmortem cerebral cortex from ASD patients revealed altered expression of MET protein and three transcripts encoding proteins that regulate MET signaling, hepatocyte growth factor (HGF), urokinase plasminogen activator receptor (PLAUR) and plasminogen activator inhibitor-1 (SERPINE1). To address potential risk conferred by multiple genes in the MET signaling pathway, we screened all exons and 5′ promoter regions for variants in the five genes encoding proteins that regulate MET expression and activity. Identified variants were genotyped in 664 families (2,712 individuals including 1,228 with ASD) and 312 unrelated controls. Replicating our initial findings, family-based association test (FBAT) analyses demonstrated that the MET promoter variant rs1858830 C allele was associated with ASD in 101 new families (P=0.033). Two other genes in the MET signaling pathway also may confer risk. A haplotype of the SERPINE1 gene exhibited significant association. In addition, the PLAUR promoter variant rs344781 T allele was associated with ASD by both FBAT (P=0.006) and case-control analyses (P=0.007). The PLAUR promoter rs344781 relative risk was 1.93 (95% confidence interval [CI]: 1.12-3.31) for genotype TT and 2.42 (95% CI: 1.38-4.25) for genotype CT compared to genotype CC. Gene-gene interaction analyses suggested a significant interaction between MET and PLAUR. These data further support our hypothesis that genetic susceptibility impacting multiple components of the MET signaling pathway contributes to ASD risk.
9. Cook EH, Jr. {{Literature Review: Overlapping genetic association in developmental language disorder and autism; Grey matter in high functioning autism and Asperger’s syndrome; Brain activation in self-other face discrimination}}. {Autism Res};2008 (Dec);1(6):370-371.
10. Dalton KM, Holsen L, Abbeduto L, Davidson RJ. {{Brain function and gaze fixation during facial-emotion processing in fragile X and autism}}. {Autism Res};2008 (Aug);1(4):231-239.
Fragile X syndrome (FXS) is the most commonly known genetic disorder associated with autism spectrum disorder (ASD). Overlapping features in these populations include gaze aversion, communication deficits, and social withdrawal. Although the association between FXS and ASD has been well documented at the behavioral level, the underlying neural mechanisms associated with the social/emotional deficits in these groups remain unclear. We collected functional brain images and eye-gaze fixations from 9 individuals with FXS and 14 individuals with idiopathic ASD, as well as 15 typically developing (TD) individuals, while they performed a facial-emotion discrimination task. The FXS group showed a similar yet less aberrant pattern of gaze fixations compared with the ASD group. The FXS group also showed fusiform gyrus (FG) hypoactivation compared with the TD control group. Activation in FG was strongly and positively associated with average eye fixation and negatively associated with ASD characteristics in the FXS group. The FXS group displayed significantly greater activation than both the TD control and ASD groups in the left hippocampus (HIPP), left superior temporal gyrus (STG), right insula (INS), and left postcentral gyrus (PCG). These group differences in brain activation are important as they suggest unique underlying face-processing neural circuitry in FXS versus idiopathic ASD, largely supporting the hypothesis that ASD characteristics in FXS and idiopathic ASD reflect partially divergent impairments at the neural level, at least in FXS individuals without a co-morbid diagnosis of ASD.
11. Deruelle C, Hubert B, Santos A, Wicker B. {{Negative emotion does not enhance recall skills in adults with autistic spectrum disorders}}. {Autism Res};2008 (Apr);1(2):91-96.
Recent empirical findings suggest a significant influence of emotion on memory processes. Surprisingly, although emotion-processing difficulties appear to be a hallmark feature in autism spectrum disorders (ASD), their impact on higher-level cognitive functions, such as memory, has not been directly studied in this population. The aim of this study was to address this issue by assessing whether the emotional valence of visual scenes affects recall skills in high-functioning individuals with ASD. To this purpose, their recall performance of neutral and emotional pictures was compared with that of typically developing adults (control group). Results revealed that while typically developing individuals showed enhanced recall skills for negative relative to positive and neutral pictures, individuals with ASD recalled the neutral pictures as well as the emotional ones. Findings of this study thus point to reduced influence of emotion on memory processes in ASD than in typically developing individuals, possibly owing to amygdala dysfunctions.
12. Falck-Ytter T. {{Face inversion effects in autism: a combined looking time and pupillometric study}}. {Autism Res};2008 (Oct);1(5):297-306.
Previous research has found that in typically developing individuals, behavioral performance declines and electrophysiological brain responses are altered when the face is inverted. Such effects are generally attributed to disruption of configural information. Individuals with autism spectrum disorder (ASD) have been found to show less pronounced inversion effects, a result in line with the view that featural processing of faces is enhanced in ASD. No study has determined if, or how, such local bias is reflected in the eye movements used in face observation. In this eye tracking study, looking time and pupil dilation were investigated during the presentation of upright and inverted faces in preschool children with ASD and typically developing preschoolers. On average, both children with ASD and typically developing children looked less at the face and the eye areas during inverted presentations than during upright presentations. Nevertheless, individuals with ASD had a stronger tendency than typically developing children to look at the same face features during upright and inverted presentations, which is suggestive of a local bias. Pupil dilation, reflecting increased processing load, was larger for inverted than upright faces in the ASD group only, and pupillary inversion effects were stronger in ASD than in typically developing children.
13. Gidley Larson JC, Mostofsky SH. {{Evidence that the pattern of visuomotor sequence learning is altered in children with autism}}. {Autism Res};2008 (Dec);1(6):341-353.
Motor deficits are commonly reported in autism, with one of the most consistent findings being impaired execution of skilled movements and gestures. Given the developmental nature of autism, it is possible that deficits in motor/procedural learning contribute to impaired acquisition of motor skills. Thus, careful examination of mechanisms underlying learning and memory may be critical to understanding the neural basis of autism. A previous study reported impaired motor learning in children with high-functioning autism (HFA); however, it is unclear whether the observed deficits in motor learning are due, in part, to impaired motor execution and whether these deficits are specific to autism. In order to examine these questions, 153 children (52 with HFA, 39 with attention-deficit/hyperactivity disorder (ADHD) and 62 typically developing (TD) children) participated in two independent experiments using a Rotary Pursuit task, with change in performance across blocks as a measure of learning. For both tasks, children with HFA demonstrated significantly less change in performance than did TD children, even when differences in motor execution were minimized. Differences in learning were not seen between ADHD and TD groups on either experiment. Analyses of the pattern of findings revealed that compared with both ADHD and TD children, children with HFA showed a similar degree of improvement in performance; however, they showed significantly less decrement in performance when presented with an alternate (« interference ») pattern. The findings suggest that mechanisms underlying acquisition of novel movement patterns may differ in children with autism. These findings may help explain impaired skill development in children with autism and help to guide approaches for helping children learn novel motor, social and communicative skills.
14. Leyfer OT, Tager-Flusberg H, Dowd M, Tomblin JB, Folstein SE. {{Overlap between autism and specific language impairment: comparison of Autism Diagnostic Interview and Autism Diagnostic Observation Schedule scores}}. {Autism Res};2008 (Oct);1(5):284-296.
Autism and specific language impairment (SLI) are developmental disorders that, although distinct by definition, have in common some features of both language and social behavior. The goal of this study was to further explore the extent to which specific clinical features of autism are seen in SLI. The children with the two disorders, matched for non-verbal IQ, were compared on the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). In the SLI group, 41% met autism or autism spectrum cut-offs for social or communication domains either on the ADI or ADOS or both. No relationship was found between the language deficits exhibited by the children with SLI and their scores on the ADI and ADOS. These findings contribute to evidence that there is some overlap in social and communicative deficits between autism and SLI, supporting the view that autism and SLI share etiologic factors. This continuum of pathology between SLI and autism appears to range from structural language abnormalities as seen in individuals with SLI to individuals with SLI with both structural and social abnormalities to individuals with autism with pragmatic impairment and language abnormalities.
15. Loth E, Carlos Gomez J, Happe F. {{Detecting changes in naturalistic scenes: contextual inconsistency does not influence spontaneous attention in high-functioning people with autism spectrum disorder}}. {Autism Res};2008 (Jun);1(3):179-188.
Individuals with autism spectrum disorders (ASD) are often reported to be good at detecting minute changes in the environment. This study tested two factors in this phenomenon; detail-focus and reduced top-down influence of scene-schema expectations on spontaneous attention to visual scene elements. Using a change blindness paradigm, adults with ASD and matched typically developing (TD) adults were presented with images of naturalistic scenes (e.g., living room). Scene changes involved three types of object substitution: an object was replaced with (i) an unexpected scene-unrelated object, (ii) a scene-related object of a different basic-level category, (iii) or a different exemplar of the original object category. Top-down effects of scene-schema expectations should render scene-unrelated (i) substitutions easiest to recognize; detail focus should increase detection of exemplar changes. The TD group showed the expected condition effects, detecting scene-unrelated substitutions significantly better than both types of scene-related changes. By contrast, the ASD group showed no condition effect, and was only significantly slower and less accurate than the TD group in detecting scene-unrelated objects. These findings suggest reduced influence of schematic expectations on spontaneous attention in individuals with ASD. Together with other factors, this may contribute to the tendency to notice « irrelevant » changes in the environment.
16. Mazefsky CA, Folstein SE, Lainhart JE. {{Overrepresentation of mood and anxiety disorders in adults with autism and their first-degree relatives: what does it mean?}} {Autism Res};2008 (Jun);1(3):193-197.
Research indicates that relatives of individuals with autism have higher rates of affective disorders than both the general population and families of children with other developmental disabilities. In addition, individuals with autism have high rates of co-morbid mood and anxiety disorders. This study sought to identify possible reasons for these previous findings by documenting the presence of affective disorders in both probands (the individuals with autism) and their family members. A sub-sample of 17 adults with autism and their first-degree relatives from the Baltimore Family Study of Autism completed a structured psychiatric interview. The results indicated that the rates of mood and anxiety disorders were 35 and 77%, respectively, for probands, and these disorders were present in at least one first-degree relative at rates of 71 and 29%, respectively. Exploring patterns within families revealed that 80% of probands with a mother who had a mood disorder history also had a mood disorder themselves, compared to only 16% of probands whose mothers did not have a mood disorder history. The results must be considered preliminary given the small sample size. Replicating these findings in a larger sample would help clarify whether a true increased risk of mood disorder exists, which would have potential implications for prevention efforts and understanding possible genetic mechanisms.
17. Mironov SL. {{Remodelling of the respiratory network in mouse model of Rett syndrome depends on BDNF-regulated slow calcium buffering}}. {J Physiol};2009 (Apr 9)
Rett Syndrome caused by MeCP2 mutations is a devastating neurodevelopmental disorder accompanied by severe breathing irregularities. Using transduction of organotypic slices from model MeCP2-/y mice with neuron-specific calcium sensor protein D3cpv, we examined the slow calcium buffering in neurons in pre-Botzinger complex (preBotC), a component of the complex respiratory network. Examination of wild-type (WT) and MeCP2 null mice showed clear differences in the spatial organisations of neurons in preBotC and also in the disturbances in calcium homeostasis in mutant mice during early postnatal development. Deregulated calcium buffering in MeCP2-/y neurons was indicated by increased amplitude and kinetics of depolarisation-induced calcium transients. Both effects were related to an insufficient calcium uptake into the endoplasmic reticulum that was restored after pretreatment with BDNF. Conversely, the inhibition of BDNF signalling in WT neurons produced disturbances similar to those observed in MeCP2-/y mice. Brief hypoxia and calcium release from internal stores induced global calcium increases, after which the processes of many MeCP2-/y neurons were retracted, an effect that was also corrected by pretreatment with BDNF. The data obtained point to a tight connection between calcium homeostasis and long-term changes in neuronal connectivity. We therefore propose that calcium-dependent retraction of neurites in preBotC neurons can cause remodelling of the neuronal network during development and set up the conditions for appearance of breathing irregularities in Rett model mice.
18. Ozonoff S, Heung K, Byrd R, Hansen R, Hertz-Picciotto I. {{The onset of autism: patterns of symptom emergence in the first years of life}}. {Autism Res};2008 (Dec);1(6):320-328.
Previous conceptualizations of autism have suggested that symptoms are evident either early in the first year of life or later in the second year, after a loss of previously acquired skills. New research suggests, however, that these two patterns do not capture all the different ways autism can emerge. For example, some children show a developmental plateau marked by failure to progress, while other children display mixed features, with both early delays and later losses evident. This article reviews the literature on autism onset, discusses problems with the traditional ways in which onset has been conceptualized, and provides recommendations for future research. We suggest that onset is better thought of as a dimensional process rather than dichotomous categories.
19. Paul R, Chawarska K, Cicchetti D, Volkmar F. {{Language outcomes of toddlers with autism spectrum disorders: a two year follow-up}}. {Autism Res};2008 (Apr);1(2):97-107.
Thirty-seven children 15-25 months of age received clinical diagnoses of autism spectrum disorder (ASD) and were re-evaluated two years later. All subjects were judged to have retained a diagnosis of ASD at the follow-up evaluation. Communication scores for the group as a whole during the first visit were significantly lower than nonverbal IQ. However, by the second visit, verbal and nonverbal scores were no longer significantly different. The group was divided into two subgroups, based on expressive language (EL) outcome at the second visit. The two groups were similar in the second year of life in terms of expressive communication skills and autistic symptoms, except for a trend toward more stereotypic and repetitive behavior in the worse outcome group. By the second visit, however, the groups differed significantly on all standard measures of expression and reception, as well as on autistic symptomotology and nonverbal IQ. When assessed during their second year, children who ended up in the better outcome group showed higher average nonverbal cognitive level, receptive language (RL) scores, number of sounds and words produced, use of symbolic play schemes, and response to joint attention bids. Regression analysis revealed that the variables for which significant differences between the two outcome groups in their second year of life were found provided significant prediction of EL outcome at age four. Stepwise regression identified RL and presence of stereotypic and repetitive at the first visit as significantly associated with EL outcome. Implications of these findings for early identification and intervention are discussed.
20. Sakurai T, Reichert J, Hoffman EJ, Cai G, Jones HB, Faham M, Buxbaum JD. {{A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders}}. {Autism Res};2008 (Aug);1(4):251-257.
In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid-compulsive behaviors in autism. We made use of a large number of unrelated cases with autism spectrum disorders ( approximately 350) and controls ( approximately 420) and screened for rare exonic variants in SLC6A4 by a high-throughput method followed by sequencing. We observed no difference in the frequency of such variants in the two groups, irrespective of how we defined the rare variants. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid-compulsive traits scores in the cases. These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid-compulsive traits in these disorders.
21. Schultz RT. Neuroimaging {{Research in Autism: The Next Decade}}. {Autism Res};2008 (Dec);1(6):317-319.
22. Sutcliffe JS. {{Heterogeneity and the design of genetic studies in autism}}. {Autism Res};2008 (Aug);1(4):205-206.
23. Suzanne Scherf K, Luna B, Kimchi R, Minshew N, Behrmann M. {{Missing the big picture: impaired development of global shape processing in autism}}. {Autism Res};2008 (Apr);1(2):114-129.
Individuals with autism exhibit hypersensitivity to local elements of the input, which may interfere with the ability to group visual elements perceptually. We investigated the development of perceptual grouping abilities in high-functioning individuals with autism (HFA) across a wide age range (8-30 years) using a classic compound letter global/local (GL) task and a more fine-grained microgenetic prime paradigm (MPP), including both few- and many-element hierarchical displays. In the GL task, contrary to the typically developing (TD) controls, HFA participants did not develop an increasing sensitivity to the global information with age. In the MPP, like the TD controls, individuals with autism at all three age groups evinced a bias to individuate the few-element displays. However, contrary to the TD controls, the HFA group failed to show age-related improvements in the ability to encode the global shape of the many-element displays. In fact, across the age range, the HFA group was consistently faster than the TD controls at perceiving the local elements in these displays. These results indicate that in autism the full process of garnering shape information from perceptual grouping, which is essential for the ability to do fast and efficient object recognition and identification, never matures, and this is especially evident in adolescence when this ability begins to improve in TD individuals. The atypical development of these perceptual organizational abilities may disrupt processing of visually presented objects, which may, in turn, fundamentally impede the development of major aspects of the social and emotional behaviors in individuals with autism.
24. Talebizadeh Z, Butler MG, Theodoro MF. {{Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism}}. {Autism Res};2008 (Oct);1(5):307.
25. Talebizadeh Z, Butler MG, Theodoro MF. {{Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism}}. {Autism Res};2008 (Aug);1(4):240-250.
To assess the feasibility and relevance of using lymphoblastoid cell lines to study the role of noncoding RNAs in the etiology of autism, we evaluated global expression profiling of 470 mature human microRNAs from six subjects with autism compared with six matched controls. Differential expression (either higher or lower) for 9 of the 470 microRNAs was observed in our autism samples compared with controls. Potential target genes for these microRNAs were identified using computer tools, which included several autism susceptibility genes. Our preliminary results indicate microRNAs should be considered and evaluated in the etiology of autism. In addition, analysis of this class of noncoding RNAs in lymphoblastoid cells has the potential to reveal at least a subset of brain-related microRNAs implicated in autism. Subsequently, this model system should allow for detection of complex subtle changes in susceptibility genes/pathways contributing to autism.
26. Tannan V, Holden JK, Zhang Z, Baranek GT, Tommerdahl MA. {{Perceptual metrics of individuals with autism provide evidence for disinhibition}}. {Autism Res};2008 (Aug);1(4):223-230.
Adults with autism exhibit inhibitory deficits that are often manifested in behavioral modifications, such as repetitive behaviors, and/or sensory hyper-responsiveness. If such behaviors are the result of a generalized deficiency in inhibitory neurotransmission, then it stands to reason that deficits involving localized cortical-cortical interactions-such as in sensory discrimination tasks-could be detected and quantified. This study exemplifies a newly developed method for quantifying sensory testing metrics. Our novel sensory discrimination tests may provide (a) an effective means for biobehavioral assessment of deficits specific to autism and (b) an efficient and sensitive measure of change following treatment. The sensory discriminative capacity of ten subjects with autism and ten controls was compared both before and after short duration adapting stimuli. Specifically, vibrotactile amplitude discriminative capacity was obtained both in the presence and absence of 1 sec adapting stimuli that were delivered 1 sec prior to the comparison stimuli. Although adaptation had a pronounced effect on the amplitude discriminative capacity of the control subjects, little or no impact was observed on the sensory discriminative capacity of the subjects with autism. This lack of impact of the adapting stimuli on the responses of the subjects with autism was interpreted to be consistent with the reduced GABAergic-mediated inhibition described in previous reports. One significant aspect of this study is that the methods could prove to be a useful and efficient way to detect specific neural deficits and monitor the efficacy of pharmacological or behavioral treatments in autism.
27. Tek S, Jaffery G, Fein D, Naigles LR. {{Do children with autism spectrum disorders show a shape bias in word learning?}} {Autism Res};2008 (Aug);1(4):208-222.
Many children with autism spectrum disorders (ASD) acquire a sizeable lexicon. However, these children also seem to understand and/or store the meanings of words differently from typically developing children. One of the mechanisms that helps typically developing children learn novel words is the shape bias, in which the referent of a noun is mapped onto the shape of an object, rather than onto its color, texture, or size. We hypothesized that children with autistic disorder would show reduced or absent shape bias. Using the intermodal preferential looking paradigm , we compared the performance of young children with ASD and typically developing children (TYP), across four time points, in their use of shape bias. Neither group showed a shape bias at Visit 1, when half of the children in both groups produced fewer than 50 count nouns. Only the TYP group showed a shape bias at Visits 2, 3, and 4. According to the growth curve analyses, the rate of increase in the shape bias scores over time was significant for the TYP children. The fact that the TYP group showed a shape bias at 24 months of age, whereas children with ASD did not demonstrate a shape bias despite a sizeable vocabulary, supports a dissociation between vocabulary size and principles governing acquisition in ASD children from early in language development.
28. Turunen JA, Rehnstrom K, Kilpinen H, Kuokkanen M, Kempas E, Ylisaukko-Oja T. {{Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism}}. {Autism Res};2008 (Jun);1(3):189-192.
Two single nucleotide polymorphisms (SNP) within Mitochondrial Aspartate/Glutamate Carrier SLC25A12 gene have recently shown to be strongly associated with autism. Here, we attempted to replicate this finding in two separate Finnish samples with autism spectrum disorders. Family-based association analysis of two SNPs, rs2056202 and rs2292813, previously shown to be associated with autism was performed in two samples with different phenotypic characteristics. The samples included 97 families with strictly defined autism and 29 extended families with Asperger syndrome (AS). We detected association at rs2292813 (FBAT, P=0.0018) in the Finnish autism sample. In, addition other family-based analysis methods supported this finding. By contrast, analysis of the AS sample yielded no evidence for association. This study shows further support that genetic variants within SLC25A12 gene contribute to the etiology of autism.
29. Van Naarden Braun K, Schieve L, Daniels J, Durkin M, Giarelli E, Kirby RS, Lee LC, Newschaffer C, Nicholas J, Pinto-Martin J. {{Relationships between multiple births and autism spectrum disorders, cerebral palsy, and intellectual disabilities: autism and developmental disabilities monitoring (ADDM) network-2002 surveillance year}}. {Autism Res};2008 (Oct);1(5):266-274.
Since the 1970s, the prevalence of multiple births (MBs) in the United States has increased significantly. This has been attributed, in large part, to iatrogenic MBs resulting from infertility treatments that include ovulation stimulation. A past study has indicated that children from MBs have an increased prevalence of cerebral palsy (CP). Other studies also have suggested an association between MBs and intellectual disabilities (ID) and autism spectrum disorders (ASDs); however, results have been inconsistent. From the Autism and Developmental Disabilities Monitoring (ADDM) Network, a surveillance project among several US populations, we obtained MB estimates among children born in 1994 and classified by 8 years of age as having: an ASD (n=1,626 total children from 11 sites; 50 born as part of an MB); CP (n=302 total children from 3 sites; 25 born as part of an MB); or ID (n=1,195 total children from 3 sites; 45 born as part of an MB). All three MB estimates were notably higher than age-adjusted expected estimates of naturally conceived MBs derived from 1971 US natality data. However, when MB estimates from the ADDM Network were compared with expected MB estimates derived from 1994 natality data for the states corresponding to the relevant ADDM Network sites, we observed no association with ASDs (observed/expected=1.08 [0.78-1.38]), a moderate, but not statistically significant association with ID (observed/expected=1.34 [0.95-1.73]), and a strong association with CP (observed/expected=2.96 [1.80-4.12]). Further investigation of specific types of MBs (natural vs. iatrogenic) is warranted.
30. Williams JH. {{Self-other relations in social development and autism: multiple roles for mirror neurons and other brain bases}}. {Autism Res};2008 (Apr);1(2):73-90.
Mirror neuron system dysfunction may underlie a self-other matching impairment, which has previously been suggested to account for autism. Embodied Cognition Theory, which proposes that action provides a foundation for cognition has lent further credence to these ideas. The hypotheses of a self-other matching deficit and impaired mirror neuron function in autism have now been well supported by studies employing a range of methodologies. However, underlying mechanisms require further exploration to explain how mirror neurons may be involved in attentional and mentalizing processes. Impairments in self-other matching and mirror neuron function are not necessarily inextricably linked and it seems possible that different sub-populations of mirror neurons, located in several regions, contribute differentially to social cognitive functions. It is hypothesized that mirror neuron coding for action-direction may be required for developing attentional sensitivity to self-directed actions, and consequently for person-oriented, stimulus-driven attention. Mirror neuron networks may vary for different types of social learning such as « automatic » imitation and imitation learning. Imitation learning may be more reliant on self-other comparison processes (based on mirror neurons) that identify differences as well as similarities between actions. Differential connectivity with the amygdala-orbitofrontal system may also be important. This could have implications for developing « theory of mind, » with intentional self-other comparison being relevant to meta-representational abilities, and « automatic » imitation being more relevant to empathy. While it seems clear that autism is associated with impaired development of embodied aspects of cognition, the ways that mirror neurons contribute to these brain-behavior links are likely to be complex.
31. Wolf JM, Tanaka JW, Klaiman C, Cockburn J, Herlihy L, Brown C, South M, McPartland J, Kaiser MD, Phillips R, Schultz RT. {{Specific impairment of face-processing abilities in children with autism spectrum disorder using the Let’s Face It! skills battery}}. {Autism Res};2008 (Dec);1(6):329-340.
Although it has been well established that individuals with autism exhibit difficulties in their face recognition abilities, it has been debated whether this deficit reflects a category-specific impairment of faces or a general perceptual bias toward the local-level information in a stimulus. In this study, the Let’s Face It! Skills Battery [Tanaka & Schultz, 2008] of developmental face- and object-processing measures was administered to a large sample of children diagnosed with autism spectrum disorder (ASD) and typically developing children. The main finding was that when matched for age and IQ, individuals with ASD were selectively impaired in their ability to recognize faces across changes in orientation, expression and featural information. In a face discrimination task, ASD participants showed a preserved ability to discriminate featural and configural information in the mouth region of a face, but were compromised in their ability to discriminate featural and configural information in the eyes. On object-processing tasks, ASD participants demonstrated a normal ability to recognize automobiles across changes in orientation and a superior ability to discriminate featural and configural information in houses. These findings indicate that the face-processing deficits in ASD are not due to a local-processing bias, but reflect a category-specific impairment of faces characterized by a failure to form view-invariant face representations and discriminate information in the eye region of the face.
32. Yuan Q, Wang RC, Wu ZF, Zhao Y, Bao XJ, Jin R.{{ [Observation on clinical therapeutic effect of Jin’s 3-needling therapy on severe autism]}}. {Zhongguo Zhen Jiu};2009 (Mar);29(3):177-180.
OBJECTIVE: To find out an effective therapy for severe child autism. METHODS: Sixty-nine autism children were divided into a JIN’s 3-needling group (n=35) and a behavior intervention group (n=34). The JIN’s needling group was treated with JIN’s 3-needling therapy, including Four-shen needling, Zhi-three needling and Nao-three needling, etc. with point group of the head selected as main points; and the behavior intervention group with professional behavior intervention comprehensive therapy in a special training school for autism children. Childhood autism rating scale (CARS) was used for evaluation of therapeutic effects. RESULTS: After 2 therapeutic courses (240 sessions), the markedly effective rate was 97.1% in the JIN’s 3-needling group and 64.7% in the behavior intervention group; there was asignificant difference the therapeutic effect between the two groups (P<0.01); after the first course (first 120 session) and the second course (later 120 sessions), there was a very significant difference between the two groups (P<0.001); and there were significant differences before and after treatment in the courses in the two groups (P<0.01). CONCLUSION: Both the JIN’s 3-needling therapy and the behavior intervention therapy have better therapeutic effects on severe child autism, but the therapeutic effect of JIN’s 3-needling is much better.
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