1. Eack SM, Mazefsky CA, Minshew NJ. {{Misinterpretation of facial expressions of emotion in verbal adults with autism spectrum disorder}}. {Autism};2014 (Feb 17)
Facial emotion perception is significantly affected in autism spectrum disorder, yet little is known about how individuals with autism spectrum disorder misinterpret facial expressions that result in their difficulty in accurately recognizing emotion in faces. This study examined facial emotion perception in 45 verbal adults with autism spectrum disorder and 30 age- and gender-matched volunteers without autism spectrum disorder to identify patterns of emotion misinterpretation during face processing that contribute to emotion recognition impairments in autism. Results revealed that difficulty distinguishing emotional from neutral facial expressions characterized much of the emotion perception impairments exhibited by participants with autism spectrum disorder. In particular, adults with autism spectrum disorder uniquely misinterpreted happy faces as neutral, and were significantly more likely than typical volunteers to attribute negative valence to nonemotional faces. The over-attribution of emotions to neutral faces was significantly related to greater communication and emotional intelligence impairments in individuals with autism spectrum disorder. These findings suggest a potential negative bias toward the interpretation of facial expressions and may have implications for interventions designed to remediate emotion perception in autism spectrum disorder.
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2. Klusek J, Martin GE, Losh M. {{Consistency between research and clinical diagnoses of autism among boys and girls with fragile X syndrome}}. {J Intellect Disabil Res};2014 (Feb 17)
BACKGROUND: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting using gold standard diagnostic tools. METHOD: This study explored whether boys and girls with FXS met criteria for ASD in a research setting using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R), and then compared these data with the frequency of parent-reported clinical diagnoses. We also examined child and family characteristics as potential diagnostic predictors across settings. Participants included 35 females and 51 males with FXS (mean age: 10 years), who were from Eastern and Midwestern regions of the USA. RESULTS: About half of the children met criteria for ASD on either the ADOS or ADI-R, with ASD occurring three times more frequently in males than females ( approximately 75% vs. approximately 25%). In contrast, approximately 25% of participants of both genders had received a clinical diagnosis of ASD. While cognitive and language skills predicted diagnostic outcome on the ADOS and ADI-R, these skills did not predict clinical diagnoses. Executive functions predicted clinical diagnoses, but not diagnoses per the ADOS or ADI-R. CONCLUSIONS: ASD in FXS may be under-diagnosed in clinical/educational settings, which raises questions regarding access to ASD-related services.
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3. Sizoo BB, van der Gaag RJ, van den Brink W. {{Temperament and character as endophenotype in adults with autism spectrum disorders or attention deficit/hyperactivity disorder}}. {Autism};2014 (Feb 17)
Autism spectrum disorder and attention deficit/hyperactivity disorder overlap in several ways, raising questions about the nature of this comorbidity. Rommelse et al. published an innovative review of candidate endophenotypes for autism spectrum disorder and attention deficit/hyperactivity disorder in cognitive and brain domains. They found that all the endophenotypic impairments that were reviewed in attention deficit/hyperactivity disorder were also present in autism spectrum disorder, suggesting a continuity model with attention deficit/hyperactivity disorder as « a light form of autism spectrum disorder. » Using existing data, 75 adults with autism spectrum disorder and 53 with attention deficit/hyperactivity disorder were directly compared on autistic symptoms with the autism spectrum quotient, and on the endophenotypic measure of temperament and character, using the Abbreviated (Dutch: Verkorte) Temperament and Character Inventory. Based on the hypothesis that attention deficit/hyperactivity disorder and autism spectrum disorder are disorders on a continuous spectrum, autism spectrum quotient scores and abbreviated Temperament and Character Inventory scores were expected to be different from normal controls in both disorders in a similar direction. In addition, the autism spectrum quotient and abbreviated Temperament and Character Inventory scores were expected to be closely correlated. These conditions applied to only two of the seven Abbreviated Temperament and Character Inventory scales (harm avoidance and self-directedness), suggesting that temperament and character as an endophenotype of autism spectrum disorder and attention deficit/hyperactivity disorder provides only partial support for the continuity hypothesis of autism spectrum disorder and attention deficit/hyperactivity disorder.
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4. Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH. {{Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder}}. {Mol Autism};2014 (Feb 17);5(1):13.
BACKGROUND: Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify familial and sex-differential risk loci in the largest available, uniformly ascertained, densely genotyped sample of multiplex ASD families from the Autism Genetics Resource Exchange (AGRE), and to compare results with earlier findings from AGRE. METHODS: From a total sample of 1,008 multiplex families, we performed genome-wide, non-parametric linkage analysis in a discovery sample of 847 families, and separately on subsets of families with only male, affected children (male-only, MO) or with at least one female, affected child (female-containing, FC). Loci showing evidence for suggestive linkage (logarithm of odds >=2.2) in this discovery sample, or in previous AGRE samples, were re-evaluated in an extension study utilizing all 1,008 available families. For regions with genome-wide significant linkage signal in the discovery stage, those families not included in the corresponding discovery sample were then evaluated for independent replication of linkage. Association testing of common single nucleotide polymorphisms (SNPs) was also performed within suggestive linkage regions. RESULTS: We observed an independent replication of previously observed linkage at chromosome 20p13 (P < 0.01), while loci at 6q27 and 8q13.2 showed suggestive linkage in our extended sample. Suggestive sex-differential linkage was observed at 1p31.3 (MO), 8p21.2 (FC), and 8p12 (FC) in our discovery sample, and the MO signal at 1p31.3 was supported in our expanded sample. No sex-differential signals met replication criteria, and no common SNPs were significantly associated with ASD within any identified linkage regions. CONCLUSIONS: With few exceptions, analyses of subsets of families from the AGRE cohort identify different risk loci, consistent with extreme locus heterogeneity in ASD. Large samples appear to yield more consistent results, and sex-stratified analyses facilitate the identification of sex-differential risk loci, suggesting that linkage analyses in large cohorts are useful for identifying heritable risk loci. Additional work, such as targeted re-sequencing, is needed to identify the specific variants within these loci that are responsible for increasing ASD risk.
