1. Assouline SG, Foley Nicpon M, Dockery L. {{Predicting the Academic Achievement of Gifted Students with Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Nov 22)
We are not well informed regarding the ability-achievement relationship for twice-exceptional individuals (very high cognitive ability and a diagnosed disability, e.g., autism spectrum disorder [ASD]). The research question for this investigation (N = 59) focused on the predictability of achievement among variables related to ability and education in a twice-exceptional sample of students (cognitive ability of 120 [91st percentile], or above, and diagnosed with ASD). We determined that WISC-IV Working Memory and Processing Speed Indices were both significantly positively correlated with achievement in math, reading, and written language. WISC Perceptual Reasoning Index was uniquely predictive of Oral Language test scores. Unexpected findings were that ASD diagnosis, Verbal Comprehension Index, and forms of academic acceleration were not related to the dependent variables.
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2. Cuccaro ML, Tuchman RF, Hamilton KL, Wright HH, Abramson RK, Haines JL, Gilbert JR, Pericak-Vance M. {{Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis}}. {J Autism Dev Disord};2011 (Nov 22)
Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster solution with one cluster showing a high rate of epilepsy (29%), earlier age at first recognition, and high rates of repetitive object use and unusual sensory interests. We also conducted LCCA on an ASD-epilepsy subset from the overall dataset (N = 64) which yielded three clusters, the largest of which had impairments in language and motor development; the remaining clusters, while not as developmentally impaired were characterized by different levels of repetitive and sensory behaviors.
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3. Dowd AM, McGinley JL, Taffe JR, Rinehart NJ. {{Do Planning and Visual Integration Difficulties Underpin Motor Dysfunction in Autism? A Kinematic Study of Young Children with Autism}}. {J Autism Dev Disord};2011 (Nov 22)
This paper examines the upper-limb movement kinematics of young children (3-7 years) with high-functioning autism using a point-to-point movement paradigm. Consistent with prior findings in older children, a difference in movement preparation was found in the autism group (n = 11) relative to typically developing children. In contrast to typically developing children, the presence of a visual distractor in the movement task did not appear to impact on early movement planning or execution in children with autism, suggesting that this group were not considering all available environmental cues to modulate movement. The findings from this study are consistent with the possibility that autism is associated with a difficulty using visual information to prime alternative movements in a responsive way to environmental demands.
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4. Lim F, Downs J, Li J, Bao XH, Leonard H. {{Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families}}. {Am J Med Genet A};2011 (Nov 21)
Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer have received a diagnosis. Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. Telephone interviews were conducted in Mandarin to explore pathways to a diagnosis of Rett syndrome in China and associated barriers. Families consulted multiple clinical centers and eventually received a diagnosis at a centrally located hospital. Over the course of this pathway, families encountered lack of knowledge and diagnostic expertise for Rett syndrome at local levels and a heavily over-burdened hospital system. There was a paucity of information available to guide management of this rare disorder after the diagnosis had been received. Our study suggests that the frustrations experienced by families could in part be addressed by the provision of information, education, and training related to Rett syndrome for clinicians, additional resources to allow clinicians to request genetic testing for confirmation of the clinical diagnosis and for information and support services for families. (c) 2011 Wiley Periodicals, Inc.
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5. Lu AT, Yoon J, Geschwind DH, Cantor RM. {{QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders}}. {Mol Psychiatry};2011 (Nov 22)
Autism Spectrum Disorder (ASD) has a heterogeneous etiology that is genetically complex. It is defined by deficits in communication and social skills and the presence of restricted and repetitive behaviors. Genetic analyses of heritable quantitative traits that correlate with ASD may reduce heterogeneity. With this in mind, deficits in nonverbal communication (NVC) were quantified based on items from the Autism Diagnostic Interview Revised. Our previous analysis of 228 families from the Autism Genetics Research Exchange (AGRE) repository reported 5 potential quantitative trait loci (QTL). Here we report an NVC QTL replication study in an independent sample of 213 AGRE families. One QTL was replicated (P<0.0004). It was investigated using a targeted-association analysis of 476 haplotype blocks with 708 AGRE families using the Family Based Association Test (FBAT). Blocks in two QTL genes were associated with NVC with a P-value of 0.001. Three associated haplotype blocks were intronic to the Nerve Growth Factor (NGF) gene (P=0.001, 0.001, 0.002), and one was intronic to KCND3 (P=0.001). Individual haplotypes within the associated blocks drove the associations (0.003, 0.0004 and 0.0002) for NGF and 0.0001 for KCND3. Using the same methods, these genes were tested for association with NVC in an independent sample of 1517 families from an Autism Genome Project (AGP). NVC was associated with a haplotype in an adjacent NGF block (P=0.0005) and one 46 kb away from the associated block in KCND3 (0.008). These analyses illustrate the value of QTL and targeted association studies for genetically complex disorders such as ASD. NGF is a promising risk gene for NVC deficits.Molecular Psychiatry advance online publication, 22 November 2011; doi:10.1038/mp.2011.155.
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6. Vasa RA, Ranta M, Huisman TA, Pinto PS, Tillman RM, Mostofsky SH. {{Normal Rates of Neuroradiological Findings in Children with High Functioning Autism}}. {J Autism Dev Disord};2011 (Nov 22)
Magnetic resonance imaging (MRI) has been used to analyze highly specific volumetric and morphological features of the brains of individuals with autism spectrum disorder (ASD). To date, there are few comprehensive studies examining the prevalence of neuroradiologic findings seen on routine MRI scans in children with ASD. This study examined the prevalence of neuroradiologic findings in children with high functioning ASD, and compared these rates to those in children with Attention-Deficit/Hyperactivity Disorder (ADHD) and children who are typically developing (TD). Results showed that approximately 90% of children had normal MRI scans. There was no significant effect of diagnosis on the total number of neuroradiological findings or the number of specific brain findings. Implications and future research directions are discussed.
