1. Anderson DK, Liang JW, Lord C. {{Predicting young adult outcome among more and less cognitively able individuals with autism spectrum disorders}}. {J Child Psychol Psychiatry};2013 (Dec 9)
BACKGROUND: The range of outcomes for young adults with Autism Spectrum Disorders (ASD) and the early childhood factors associated with this diversity have implications for clinicians and scientists. METHODS: This prospective study provided a unique opportunity to predict outcome 17 years later for a relatively large sample of children diagnosed with ASD at 2 years old. Diagnostic and psychometric instruments were administered between 2 and 19 with data from 2, 3, and 19 included in this study. Clinicians administered tests without knowledge of previous assessments whenever possible. Caregivers provided additional information through questionnaires. RESULTS: Significant intellectual disabilities at 19 were predicted by age 2 about 85% of the time from VIQ and NVIQ scores together, though prediction of young adult outcome for youths with average or higher intelligence was more complex. By 19, 9% of participants had largely overcome core difficulties associated with ASD and no longer retained a diagnosis. These youths with Very Positive Outcomes were more likely to have participated in treatment and had a greater reduction in repetitive behaviors between age 2 and 3 compared to other Cognitively Able youths (VIQ >/=70) with ASD. Very Positive Outcome youths did not differ phenotypically from Cognitively Able ASD individuals at 2 but both groups differed from Cognitively Less Able individuals (VIQ <70). CONCLUSION: Those most at risk for intellectual disabilities and ASD can be reliably identified at an early age to receive comprehensive treatment. Findings also suggest that some cognitively able children with ASD who participate in early intervention have very positive outcomes, although replication with randomized, larger samples is needed. In order to improve understanding of very positive outcomes in ASD, future research will need to identify how variations in child characteristics and environmental factors contribute to the nature and timing of growth across individuals and areas of development.
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2. Brignell A, Morgan AT, Woolfenden S, Williams K. {{How relevant is the framework being used with autism spectrum disorder today?}}. {Int J Speech Lang Pathol};2013 (Dec 9)
Camarata (2014) provides a comprehensive summary of the current state of the research on early identification and intervention for children with autism spectrum disorders (ASD). Extending on the foundations provided by Camarata, this commentary discusses the value of a diagnosis of ASD and questions whether there is sufficient evidence on which to base continuing calls for early identification and ASD-specific intervention. Gaps are highlighted in the evidence base, suggestions made about how to fill those gaps, and an alternative framework is proposed for achieving best outcomes for children with early developmental problems of the type seen in ASD and their families.
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3. Doshi-Velez F, Ge Y, Kohane I. {{Comorbidity Clusters in Autism Spectrum Disorders: An Electronic Health Record Time-Series Analysis}}. {Pediatrics};2013 (Dec 9)
OBJECTIVE:The distinct trajectories of patients with autism spectrum disorders (ASDs) have not been extensively studied, particularly regarding clinical manifestations beyond the neurobehavioral criteria from the Diagnostic and Statistical Manual of Mental Disorders. The objective of this study was to investigate the patterns of co-occurrence of medical comorbidities in ASDs.METHODS:International Classification of Diseases, Ninth Revision codes from patients aged at least 15 years and a diagnosis of ASD were obtained from electronic medical records. These codes were aggregated by using phenotype-wide association studies categories and processed into 1350-dimensional vectors describing the counts of the most common categories in 6-month blocks between the ages of 0 to 15. Hierarchical clustering was used to identify subgroups with distinct courses.RESULTS:Four subgroups were identified. The first was characterized by seizures (n = 120, subgroup prevalence 77.5%). The second (n = 197) was characterized by multisystem disorders including gastrointestinal disorders (prevalence 24.3%) and auditory disorders and infections (prevalence 87.8%), and the third was characterized by psychiatric disorders (n = 212, prevalence 33.0%). The last group (n = 4316) could not be further resolved. The prevalence of psychiatric disorders was uncorrelated with seizure activity (P = .17), but a significant correlation existed between gastrointestinal disorders and seizures (P < .001). The correlation results were replicated by using a second sample of 496 individuals from a different geographic region.CONCLUSIONS:Three distinct patterns of medical trajectories were identified by unsupervised clustering of electronic health record diagnoses. These may point to distinct etiologies with different genetic and environmental contributions. Additional clinical and molecular characterizations will be required to further delineate these subgroups.
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4. Eriksson JM, Andersen LM, Bejerot S. {{RAADS-14 Screen: validity of a screening tool for autism spectrum disorder in an adult psychiatric population}}. {Mol Autism};2013 (Dec 9);4(1):49.
BACKGROUND: Autism spectrum disorder (ASD) can be difficult to distinguish from other psychiatric disorders. The clinical assessment of ASD is lengthy, and has to be performed by a specialized clinician. Therefore, a screening instrument to aid in the identification of patients who may have undiagnosed ASD should be useful. The purpose of this study was to develop such a screening instrument. METHODS: Based on the 80 item Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), we developed a 14 item self-evaluation questionnaire, the RAADS-14 Screen. In total, 135 adults with ASD and 508 psychiatric controls completed the abridged version of the RAADS-R. RESULTS: The RAADS-14 Screen score was significantly higher in the ASD group than in the control samples, with a median score of 32 for ASD, 15 for attention deficit hyperactivity disorder, and 11 for other psychiatric disorders (P < 0.001). A cut-off score of 14 or above reached a sensitivity of 97% and a specificity of 46 to 64%. A factor analysis identified three factors consistent with mentalizing deficits, social anxiety, and sensory reactivity relevant for the diagnosis of ASD. The psychometric properties of RAADS-14 Screen were shown to be satisfactory. CONCLUSIONS: The results of this study indicate that RAADS-14 Screen is a promising measure in screening for ASD in adult psychiatric outpatients.
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5. Lucas R, Norbury CF. {{Orthography facilitates vocabulary learning for children with autism spectrum disorders (ASD)}}. {Q J Exp Psychol (Hove)};2013 (Dec 9)
This study investigated the extent to which children with autism spectrum disorders (ASD) can use orthography to facilitate vocabulary learning, as is the case for typically developing (TD) children. Forty-one children aged 7-12 years, 20 with a formal diagnosis of ASD and 21 TD peers, were taught 16 low-frequency concrete science words, such as « breccia ». Half of the stimuli had the written word presented alongside a picture of the target item (orthography present: OP) while the remaining items were taught with orthography absent (OA). During the learning phase, eye movements were recorded; there were no group differences in the time spent fixating the written form. Production, comprehension, and recognition of orthographic forms of new words were assessed immediately after learning and again after a 24-hour delay. The vocabulary learning of both groups was facilitated by the presence of orthography. Overall, the groups did not differ in comprehension of new words or recognition of new orthographic forms, although the children with ASD demonstrated superior phonological learning (as measured by a picture naming task) relative to TD peers. Additionally, both groups retained or increased new knowledge after 24 hours. The results suggest that presenting the written form during oral vocabulary teaching will enhance learning and provide a mechanism for children with ASD to increase word knowledge despite potential limitations in social learning.
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6. Wang Y, Sakano H, Beebe K, Brown MR, de Laat R, Bothwell M, Kulesza RJ, Jr., Rubel EW. {{Intense and specialized dendritic localization of the fragile X mental retardation protein in binaural brainstem neurons — a comparative study in the Alligator, Chicken, Gerbil, and Human}}. {J Comp Neurol};2013 (Dec 9)
Neuronal dendrites are structurally and functionally dynamic in response to changes in afferent activity. The fragile X mental retardation protein (FMRP) is an mRNA binding protein that regulates activity-dependent protein synthesis and morphological dynamics of dendrites. Loss and abnormal expression of FMRP occur in fragile X syndrome (FXS) and some forms of autism spectrum disorders. To provide further understanding of how FMRP signaling regulates dendritic dynamics, we have examined dendritic expression and localization of FMRP in the reptilian and avian nucleus laminaris (NL) and its mammalian analogue, the medial superior olive (MSO), in rodents and humans. NL/MSO neurons are specialized for temporal processing of low frequency sounds for binaural hearing, which is impaired in FXS. Protein BLAST analyses first demonstrate that the FMRP amino acid sequences in the alligator and chicken are highly similar to human FMRP with identical mRNA-binding and phosphorylation sites, suggesting that FMRP functions similarly across vertebrates. Immunocytochemistry further reveals that NL/MSO neurons have very high levels of dendritic FMRP in low frequency hearing vertebrates including alligator, chicken, gerbil, and human. Remarkably, dendritic FMRP in NL/MSO neurons often accumulates at branch points and enlarged distal tips, loci known to be critical for branch-specific dendritic arbor dynamics. These observations support an important role for FMRP in regulating dendritic properties of binaural neurons that are essential for low frequency sound localization and auditory scene segregation, and support the relevance of studying this regulation in nonhuman vertebrates that use low frequencies in order to further understand human auditory processing disorders. J. Comp. Neurol., 2013. (c) 2013 Wiley Periodicals, Inc.
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7. Warrier V, Baron-Cohen S, Chakrabarti B. {{Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism}}. {Mol Autism};2013 (Dec 9);4(1):48.
BACKGROUND: Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy. METHODS: In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ), the Systemizing Quotient-Revised (SQ-R), the Embedded Figures Test (EFT), the Reading the Mind in the Eyes Test (RMET), and the Mental Rotation Test (MRT). Two-loci, three-loci, four-loci haplotype analyses, and one seven-loci haplotype analysis were also performed in the AS case–control sample. RESULTS: Three SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with AS, and two SNPs (rs9806546, rs11636966) were significantly associated with EQ. Two SNP-SNP pairs, rs12438141-rs1035751 and rs12438141-rs7179514, showed significant association with variation in the EFT scores. One SNP-SNP pair, rs7174437-rs1863455, was significantly associated with variation in the MRT scores. Additionally, a few haplotypes, including a 19 kb genomic region that formed a linkage disequilibrium (LD) block in our sample and contained several nominally significant SNPs, were found to be significantly associated with AS. CONCLUSION: The current study confirms the role of GABRB3 as an important candidate gene in both ASC and normative variation in related endophenotypes.
