1. Anderson GM, Montazeri F, de Bildt A. {{Network Approach to Autistic Traits: Group and Subgroup Analyses of ADOS Item Scores}}. {J Autism Dev Disord};2015 (Jul 24)
A network conceptualization might contribute to understanding the occurrence and interacting nature of behavioral traits in the autism realm. Networks were constructed based on correlations of item scores of the Autism Diagnostic Observation Schedule for Modules 1, 2 and 3 obtained for a group of 477 Dutch individuals with developmental disorders. After combining Modules, networks were obtained and compared for male versus female, high- versus low-functioning, seizure versus non-seizure, autism spectrum disorder versus intellectual disability, and younger versus older subjects. The network visualizations and calculated network parameters provide new perspectives that generate new hypothesis and suggest follow-up studies. The approach should be useful in characterizing individuals and groups, in elucidating mechanisms of trait generation and routes to outcome phenotypes, and in suggesting points of intervention.
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2. Carmo JC, Duarte E, Pinho S, Marques JF, Filipe CN. {{Verbal fluency as a function of time in autism spectrum disorder: An impairment of initiation processes?}}. {J Clin Exp Neuropsychol};2015 (Jul 24):1-12.
In the present study, we aimed to evaluate the hypothesis that the reported discrepancy in the performance of verbal fluency in individuals with autism spectrum disorder (ASD), characterized by an overall word productivity impairment with normal clustering and switching abilities, may be due to an initiation deficit. In the present study, we evaluated the temporal dynamics of both letter and semantic verbal fluency tasks in a sample of 20 young adults with high-functioning ASD compared with a sample of 20 gender-, age-, education-, and verbal-IQ-matched participants. We first compared both the word productivity and the qualitative analysis of clustering and switching abilities during the entire task to replicate the discrepancy reported in the literature. Importantly, we next analyzed both word productivity and clustering and switching abilities in two time intervals (0-30 s and 31-60 s), as it was our primary interest to evaluate the functioning of the initial component of word retrieval. Directly supporting the idea that the discrepancy found between an impairment in global word productivity combined with normal clustering and switching strategies is due to an activation and initiation deficit, we observed an abnormal performance for the ASD group in the first time period only. We interpreted these results to be preliminary findings of deficits in initiation processes in ASD.
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3. Chapman NH, Nato AQ, Jr., Bernier R, Ankenman K, Sohi H, Munson J, Patowary A, Archer M, Blue EM, Webb SJ, Coon H, Raskind WH, Brkanac Z, Wijsman EM. {{Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes}}. {Hum Genet};2015 (Jul 24)
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders, characterized by impairment in communication and social interactions, and by repetitive behaviors. ASDs are highly heritable, and estimates of the number of risk loci range from hundreds to >1000. We considered 7 extended families (size 12-47 individuals), each with >/=3 individuals affected by ASD. All individuals were genotyped with dense SNP panels. A small subset of each family was typed with whole exome sequence (WES). We used a 3-step approach for variant identification. First, we used family-specific parametric linkage analysis of the SNP data to identify regions of interest. Second, we filtered variants in these regions based on frequency and function, obtaining exactly 200 candidates. Third, we compared two approaches to narrowing this list further. We used information from the SNP data to impute exome variant dosages into those without WES. We regressed affected status on variant allele dosage, using pedigree-based kinship matrices to account for relationships. The p value for the test of the null hypothesis that variant allele dosage is unrelated to phenotype was used to indicate strength of evidence supporting the variant. A cutoff of p = 0.05 gave 28 variants. As an alternative third filter, we required Mendelian inheritance in those with WES, resulting in 70 variants. The imputation- and association-based approach was effective. We identified four strong candidate genes for ASD (SEZ6L, HISPPD1, FEZF1, SAMD11), all of which have been previously implicated in other studies, or have a strong biological argument for their relevance.
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4. Chin J, Wood E, Peters GS, Drexler DM. {{Acoustic Sample Deposition MALDI-MS (ASD-MALDI-MS): A Novel Process Flow for Quality Control Screening of Compound Libraries}}. {J Lab Autom};2015 (Jul 22)
In the early stages of drug discovery, high-throughput screening (HTS) of compound libraries against pharmaceutical targets was a common method to identify potential lead molecules. For these HTS campaigns to be efficient and successful, continuous quality control of the compound collection is necessary and crucial. However, the large number of compound samples and the limited sample amount pose unique challenges. Presented here is a proof-of-concept study for a novel process flow for the quality control screening of small-molecule compound libraries that consumes only minimal amounts of samples and affords compound-specific molecular data. This process employs an acoustic sample deposition (ASD) technique for the offline sample preparation by depositing nanoliter volumes in an array format onto microscope glass slides followed by matrix-assisted laser desorption/ionization mass spectrometric (MALDI-MS) analysis. An initial study of a 384-compound array employing the ASD-MALDI-MS workflow resulted in a 75% first-pass positive identification rate with an analysis time of <1 s per sample.
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5. Estes A, Zwaigenbaum L, Gu H, St John T, Paterson S, Elison JT, Hazlett H, Botteron K, Dager SR, Schultz RT, Kostopoulos P, Evans A, Dawson G, Eliason J, Alvarez S, Piven J. {{Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life}}. {J Neurodev Disord};2015;7(1):24.
BACKGROUND: To delineate the early progression of autism spectrum disorder (ASD) symptoms, this study investigated developmental characteristics of infants at high familial risk for ASD (HR), and infants at low risk (LR). METHODS: Participants included 210 HR and 98 LR infants across 4 sites with comparable behavioral data at age 6, 12, and 24 months assessed in the domains of cognitive development (Mullen Scales of Early Learning), adaptive skills (Vineland Adaptive Behavioral Scales), and early behavioral features of ASD (Autism Observation Scale for Infants). Participants evaluated according to the DSM-IV-TR criteria at 24 months and categorized as ASD-positive or ASD-negative were further stratified by empirically derived cutoff scores using the Autism Diagnostic Observation Schedule yielding four groups: HR-ASD-High, HR-ASD-Moderate (HR-ASD-Mod), HR-ASD-Negative (HR-Neg), and LR-ASD-Negative (LR-Neg). RESULTS: The four groups demonstrated different developmental trajectories that became increasingly distinct from 6 to 24 months across all domains. At 6 months, the HR-ASD-High group demonstrated less advanced Gross Motor and Visual Reception skills compared with the LR-Neg group. By 12 months, the HR-ASD-High group demonstrated increased behavioral features of ASD and decreased cognitive and adaptive functioning compared to the HR-Neg and LR-Neg groups. By 24 months, both the HR-ASD-High and HR-ASD-Moderate groups demonstrated differences from the LR- and HR-Neg groups in all domains. CONCLUSIONS: These findings reveal atypical sensorimotor development at 6 months of age which is associated with ASD at 24 months in the most severely affected group of infants. Sensorimotor differences precede the unfolding of cognitive and adaptive deficits and behavioral features of autism across the 6- to 24-month interval. The less severely affected group demonstrates later symptom onset, in the second year of life, with initial differences in the social-communication domain.
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6. Humphreys P. {{Measuring gross motor activities in Rett syndrome}}. {Dev Med Child Neurol};2015 (Jul 22)
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7. Li J, Zhao L, You Y, Lu T, Jia M, Yu H, Ruan Y, Yue W, Liu J, Lu L, Zhang D, Wang L. {{Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism}}. {PLoS One};2015;10(7):e0133247.
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with a strong genetic component. Many lines of evidence indicated that ASD shares common genetic variants with other psychiatric disorders (for example, schizophrenia). Previous studies detected that calcium channels are involved in the etiology of many psychiatric disorders including schizophrenia and autism. Significant association between CACNA1C (calcium channel, voltage-dependent, L type, alpha 1C subunit) and schizophrenia was detected. Furthermore, rare mutation in CACNA1C is suggested to cause Timothy syndrome, a multisystem disorder including autism-associated phenotype. However, there is no evidence for association between CACNA1C and autism in Chinese Han population. To investigate the association between single nucleotide polymorphisms (SNP) in CACNA1C and autism, we first performed a family-based association study between eighteen SNPs in CACNA1C and autism in 239 trios. All SNPs were genotyped by using Sequenom genotyping platform. Two SNPs (rs1006737 and rs4765905) have a trend of association with autism. To further confirm the association between these two SNPs with autism, we expanded the sample size to 553 trios by adding 314 trios. Association analyses for SNPs and haplotype were performed by using family-based association test (FBAT) and Haploview software. Permutation tests were used for multiple testing corrections of the haplotype analyses (n=10,000). The significance level for all statistical tests was two-tailed (p<0.05). The results demonstrated that G allele of rs1006737 and G allele of rs4765905 showed a preferential transmission to affected offspring in 553 trios (p=0.035). Haplotype analyses showed that two haplotypes constructed from rs1006737 and rs4765905 were significantly associated with autism (p=0.030, 0.023, respectively; Global p=0.046). These results were still significant after permutation correction (n=10,000, p=0.027). Our research suggests that CACNA1C might play a role in the genetic etiology of autism in Chinese Han population.
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8. Lough E, Hanley M, Rodgers J, South M, Kirk H, Kennedy DP, Riby DM. {{Violations of Personal Space in Young People with Autism Spectrum Disorders and Williams Syndrome: Insights from the Social Responsiveness Scale}}. {J Autism Dev Disord};2015 (Jul 24)
Interpersonal distance regulation is crucial for successful social interactions. We investigated personal space awareness in Williams syndrome (WS) and autism spectrum disorder (ASD) compared to typical development. Parents reported that individuals with WS and ASD were significantly more likely than those developing typically to invade the personal space of others. WS individuals were reported to have the least awareness of the personal space boundaries of others. Despite the suggested opposing social profiles of WS and ASD, some similarities are present in the ability, or indeed inability, to regulate interpersonal distance during social interactions. Findings are discussed in relation to implications of atypical amygdala function, inhibitory control and anxiety on real-world behaviour for such socially vulnerable groups.
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9. Melchior M, Pryor L, van der Waerden J. {{Commonalities and specificities between attention deficit/hyperactivity disorder and autism-spectrum disorders: can epidemiology contribute?}}. {Eur Child Adolesc Psychiatry};2015 (Jul 24)
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10. Shi LJ, Ou JJ, Gong JB, Wang SH, Zhou YY, Zhu FR, Liu XD, Zhao JP, Luo XR. {{Broad autism phenotype features of Chinese parents with autistic children and their associations with severity of social impairment in probands}}. {BMC Psychiatry};2015;15:168.
BACKGROUND: Parents of children with autism have higher rates of broad autism phenotype (BAP) features than parents of typically developing children (TDC) in Western countries. This study was designed to examine the rate of BAP features in parents of children with autism and the relationship between parental BAP and the social impairment of their children in a Chinese sample. METHODS: A total of 299 families with autistic children and 274 families with TDC participated in this study. Parents were assessed using the Broad Autism Phenotype Questionnaire (BAPQ), which includes self-report, informant-report, and best-estimate versions. Children were assessed using the Chinese version of the Social Responsiveness Scale (SRS). RESULTS: Parents of children with autism were significantly more likely to have BAP features than were parents of TDC; mothers and fathers in families with autistic children had various BAP features. The total scores of the informant and best-estimate BAPQ versions for fathers were significantly associated with their children’s SRS total scores in the autism group, whereas the total scores of the three BAPQ versions for mothers were significantly associated with their children’s SRS total scores in the TDC group. In the autism group, the total SRS scores of children with « BAP present » parents (informant and best-estimate) were higher than the total SRS scores of children with »BAP absent » parents. In the TDC group, the total SRS scores of children with « BAP present » parents were higher than the total SRS scores of children with »BAP absent » parents (best-estimate). CONCLUSIONS: Parents of autistic children were found to have higher rates of BAP than parents of TDC in a sample of Chinese parents. The BAP features of parents are associated with their children’s social functioning in both autism families and TDC families, but the patterns of the associations are different.
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11. Song Y, Hakoda Y, Sanefuji W, Cheng C. {{Can They See It? The Functional Field of View Is Narrower in Individuals with Autism Spectrum Disorder}}. {PLoS One};2015;10(7):e0133237.
Although social cognitive deficits have long been thought to underlie the characteristic and pervasive difficulties with social interaction observed in individuals with autism spectrum disorder (ASD), several recent behavioral and neuroimaging studies have indicated that visual perceptual impairments might also play a role. People with ASD show a robust bias towards detailed information at the expense of global information, although the mechanisms that underlie this phenomenon remain elusive. To address this issue, we investigated the functional field of view in a group of high-functioning children with autism (n = 13) and a paired non-ASD group (n = 13). Our results indicate that the ability to correctly detect and identify stimuli sharply decreases with greater eccentricity from the fovea in people with ASD. Accordingly, a probe analysis revealed that the functional field of view in the ASD group was only about 6.62 degrees of retinal eccentricity, compared with 8.57 degrees in typically developing children. Thus, children with ASD appear to have a narrower functional field of view. These results challenge the conventional hypothesis that the deficit in global processing in individuals with ASD is solely due to weak central coherence. Alternatively, our data suggest that a narrower functional field of view may also contribute to this bias.
