1. Anitha A, Thanseem I, Nakamura K, Yamada K, Iwayama Y, Toyota T, Iwata Y, Suzuki K, Sugiyama T, Tsujii M, Yoshikawa T, Mori N. {{Protocadherin alpha (PCDHA) as a novel susceptibility gene for autism}}. {J Psychiatry Neurosci};2012 (Oct 2);37(6):120058.
Background: Synaptic dysfunction has been shown to be involved in the pathogenesis of autism. We hypothesized that the protocadherin alpha gene cluster (PCDHA), which is involved in synaptic specificity and in serotonergic innervation of the brain, could be a suitable candidate gene for autism. Methods: We examined 14 PCDHA single nucleotide polymorphisms (SNPs) for genetic association with autism in DNA samples of 3211 individuals (841 families, including 574 multiplex families) obtained from the Autism Genetic Resource Exchange. Results: Five SNPs (rs251379, rs1119032, rs17119271, rs155806 and rs17119346) showed significant associations with autism. The strongest association (p < 0.001) was observed for rs1119032 (z score of risk allele G = 3.415) in multiplex families; SNP associations withstand multiple testing correction in multiplex families (p = 0.041). Haplotypes involving rs1119032 showed very strong associations with autism, withstanding multiple testing corrections. In quantitative transmission disequilibrium testing of multiplex fam – ilies, the G allele of rs1119032 showed a significant association (p = 0.033) with scores on the Autism Diagnostic Interview-Revised (ADI-R)_D (early developmental abnormalities). We also found a significant difference in the distribution of ADI-R_A (social interaction) scores between the A/A, A/G and G/G genotypes of rs17119346 (p = 0.002). Limitations: Our results should be replicated in an in – dependent population and/or in samples of different racial backgrounds. Conclusion: Our study provides strong genetic evidence of PCDHA as a potential candidate gene for autism.
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2. Huerta M, Bishop SL, Duncan A, Hus V, Lord C. {{Application of DSM-5 Criteria for Autism Spectrum Disorder to Three Samples of Children With DSM-IV Diagnoses of Pervasive Developmental Disorders}}. {Am J Psychiatry};2012 (Oct 1);169(10):1056-1064.
OBJECTIVE Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses. METHOD Three data sets included 4,453 children with DSM-IV clinical PDD diagnoses and 690 with non-PDD diagnoses (e.g., language disorder). Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) and clinical observation instrument (Autism Diagnostic Observation Schedule) were matched to DSM-5 criteria and used to evaluate the sensitivity and specificity of the proposed DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. RESULTS Based on just parent data, the proposed DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses. Sensitivity remained high in specific subgroups, including girls and children under 4. The specificity of DSM-5 ASD was 0.53 overall, while the specificity of DSM-IV ranged from 0.24, for clinically diagnosed PDD not otherwise specified (PDD-NOS), to 0.53, for autistic disorder. When data were required from both parent and clinical observation, the specificity of the DSM-5 criteria increased to 0.63. CONCLUSIONS These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger’s disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.
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3. Huskens B, Reijers H, Didden R. {{Staff training effective in increasing learning opportunities for school-aged children with autism spectrum disorders}}. {Dev Neurorehabil};2012 (Oct 3)
Objective: This study examined the effectiveness of instruction and video feedback on staff’s ABA skills during one-to-one play situations and initiations of children with autism spectrum disorder (ASD). Methods: Data were collected within a multiple baseline design across 5 dyads. A continuous 20 s interval recording system was used to record motivation, creating opportunities, prompting and reinforcement of staff and child initiations. Training included instruction, consisting of instructions, video examples and role-plays. After this, a 4-h delayed video feedback condition started. Results: Three staff members created significantly more learning opportunities during post-instruction and a significant increase occurred during video feedback for one staff member. Initiatives increased significantly in two children during post-instruction. During follow-up, three children showed unprompted initiatives. The mean percentage of spontaneous initiations increased during follow-up. Conclusion: The findings provide support for training staff in a clinical setting to create learning opportunities, which also may result in concomittant improvement in child initiations.
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4. Lahiri U, Bekele E, Dohrmann E, Warren Z, Sarkar N. {{Design of a Virtual Reality based Adaptive Response Technology for Children with Autism}}. {IEEE Trans Neural Syst Rehabil Eng};2012 (Sep 27)
Children with autism spectrum disorder (ASD) demonstrate potent impairments in social communication skills including atypical viewing patterns during social interactions. Recently, several assistive technologies, particularly Virtual Reality (VR), have been investigated to address specific social deficits in this population. Some studies have coupled eye-gaze monitoring mechanisms to design intervention strategies. However, presently available systems are designed to primarily chain learning via aspects of ones performance only which affords restricted range of individualization. The presented work seeks to bridge this gap by developing a novel VR-based interactive system with Gaze-sensitive Adaptive Response Technology that can seamlessly integrate VR-based tasks with eye-tracking techniques to intelligently facilitate engagement in tasks relevant to advancing social communication skills. Specifically, such a system is capable of objectively identifying and quantifying ones engagement level by measuring real-time viewing patterns, subtle changes in eye physiological responses, as well as performance metrics in order to adaptively respond in an individualized manner to foster improved social communication skills among the participants. The developed system was tested through a usability study with eight adolescents with ASD. The results indicate the potential of the system to promote improved social task performance along with socially-appropriate mechanisms during VR-based social conversation tasks.
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5. Palmen A, Didden R, Verhoeven L. {{A personal digital assistant for improving independent transitioning in adolescents with high-functioning autism spectrum disorder}}. {Dev Neurorehabil};2012 (Oct 3)
Objective: This study evaluated the effectiveness of a personal digital assistant (PDA) on independent transitioning between activities in a day treatment centre for youth with high-functioning ASD. Methods: Within a multiple baseline design across four participants, data were collected on participant’s transitioning and staff’s prompting behaviour. Intervention by staff consisted of one technical instruction session on use of the PDA and non-specific instruction following incorrect transitions while not using the PDA, in the natural setting. Results: Analysis revealed a significant increase in percentage independent daily transitions, which resulted from the independent use of the PDA. The change in staff’s prompt use during intervention was mainly the result of a significant decrease in the use of non-specific prompts in correcting participant’s transition behaviour. Conclusion: A brief intervention was effective in improving independent transitioning using a PDA. Findings are evaluated in light of their clinical implications and suggestions for future research are discussed.
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6. Rieske RD, Matson JL, Davis TE, 3rd, Konst MJ, Williams LW, Whiting SE. {{Examination and validation of a measure of anxiety specific to children with autism spectrum disorders}}. {Dev Neurorehabil};2012 (Oct 3)
Objective: Investigated the use of a combined scale (Worry/Depressed and Avoidant scales) from the Autism Spectrum Disorders-Comorbidity for Children (ASD-CC) as a measure of anxiety. Alternative methods of measuring anxiety were examined using the ASD-CC in an ASD population. Methods: Participants included 147 children, age 2-16 years, evincing a mixture of behavior problems. Comparisons between scores on the ASD-CC and Behavior Assessment System for Children, Second Edition (BASC-2) were examined to determine the most efficacious method of measuring anxiety and to establish convergent and discriminant validity. Results: The worry/depressed subscale was the most effective subscale of the ASD-CC to measure anxiety with proven incremental validity over the combined scale. Conclusion: The worry/depressed subscale is the best measure of anxiety utilizing the ASD-CC in children with an ASD. Additionally, convergent and discriminant validity was demonstrated by comparing the scale with similar and dissimilar scales of the BASC-2.
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7. Stevens SA, Nash K, Koren G, Rovet J. {{Autism characteristics in children with fetal alcohol spectrum disorders}}. {Child Neuropsychol};2012 (Oct 3)
Background: Children with fetal alcohol spectrum disorders (FASD) exhibit difficulties in many cognitive and behavioral domains and also have high comorbidity with other disorders such as attention deficit/hyperactivity disorder (ADHD) and conduct disorder as well as autism. Although the FASD profile is shown to be distinct from ADHD and conduct disorder, far less is known about the commonalities with autism. The current study used a parent-rated questionnaire containing an autism subscale to explore the autistic-like features that children with FASD exhibit. Methods: Studied were 25 children with FASD (age: M = 10.3 years) and 17 normal controls (NCs; age: M = 10.2 years). As part of a larger study, all parents/caregivers completed the Social Skills Improvement System (SSIS; Gresham & Elliot, 2008 ), which in addition to evaluating social skills and behavior problems globally, includes an Autism subscale. Results: Between-group comparisons showed the FASD group not only scored significantly lower in social skills and significantly higher in behavior problems than the NC group but children with FASD also scored significantly higher on the Autism subscale. Item analysis revealed they showed the most difficulty in terms of social and communicative functioning and the least in repetitive and restrictive behaviors. Conclusion: Current findings signify that FASD and autism share similarities with regard to social and communicative functioning. These findings, which further our knowledge of the FASD phenotype, may be useful in specifying the particular interventions these children need.
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8. Tsai LY. {{Sensitivity and Specificity: DSM-IV Versus DSM-5 Criteria for Autism Spectrum Disorder}}. {Am J Psychiatry};2012 (Oct 1);169(10):1009-1011.
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9. Turygin N, Matson JL, Beighley J, Adams H. {{The effect of DSM-5 criteria on the developmental quotient in toddlers diagnosed with autism spectrum disorder}}. {Dev Neurorehabil};2012 (Oct 3)
Objective: To determine the effect of the changing fifth edition of the Diagnostic and Statistical Manual (DSM-5) criteria on the developmental profiles of children diagnosed with an Autism spectrum disorder (ASD). Methods: This study examines the effect of DSM-5 changes on impairment profiles of a population of 2054 at-risk toddlers aged 17-36 months using the Battelle Developmental Inventory, Second Edition. Results: Toddlers diagnosed with an ASD according to the DSM-5 were found to represent a more impaired population compared to those who qualified for a diagnosis of an ASD based on the DSM-IV-TR, but not the DSM-5. The group diagnosed according to the DSM-IV-TR represented a population of toddlers who were more impaired than atypically developing peers. Conclusions: The proposed changes to the DSM will likely result in those diagnosed with an ASD according to the new criteria representing a more functionally impaired group. Implications of this proposed change are discussed.
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10. Wisniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwinska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczaluba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. {{Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders}}. {Eur J Hum Genet};2012 (Oct 3)
Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, including childhood autism, atypical autism, and Asperger syndrome, with an estimated prevalence of 1.0-2.5% in the general population. ASDs have a complex multifactorial etiology, with genetic causes being recognized in only 10-20% of cases. Recently, copy-number variants (CNVs) have been shown to contribute to over 10% of ASD cases. We have applied a custom-designed oligonucleotide array comparative genomic hybridization with an exonic coverage of over 1700 genes, including 221 genes known to cause autism and autism candidate genes, in a cohort of 145 patients with ASDs. The patients were classified according to ICD-10 standards and the Childhood Autism Rating Scale protocol into three groups consisting of 45 individuals with and 69 individuals without developmental delay/intellectual disability (DD/ID), and 31 patients, in whom DD/ID could not be excluded. In 12 patients, we have identified 16 copy-number changes, eight (5.5%) of which likely contribute to ASDs. In addition to known recurrent CNVs such as deletions 15q11.2 (BP1-BP2) and 3q13.31 (including DRD3 and ZBTB20), and duplications 15q13.3 and 16p13.11, our analysis revealed two novel genes clinically relevant for ASDs: ARHGAP24 (4q21.23q21.3) and SLC16A7 (12q14.1). Our results further confirm the diagnostic importance of array CGH in detection of CNVs in patients with ASDs and demonstrate that CNVs are an important cause of ASDs as a heterogeneous condition with a variety of contributory genes.European Journal of Human Genetics advance online publication, 3 October 2012; doi:10.1038/ejhg.2012.219.
