1. {{Neurodevelopmental disorders: Inherited truncating mutations and copy number variants are common in children with autism spectrum disorders}}. {Nat Rev Neurol};2015 (May 26)
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2. Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK. {{Microdeletions of ELP4 are Associated with Language Impairment, Autism Spectrum Disorder and Mental Retardation}}. {Hum Mutat};2015 (May 23)
Copy number variations (CNV) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4092 U.K. individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridisation (aCGH), with WTCCC controls (n = 4783). The phenotypic analysis was then extended using the DECIPHER database. We followed up association using an autism patient cohort (n = 3143) compared with six additional control groups (n = 6469). In the clinical discovery series we identified eight cases with ELP4 deletions, and one with a partial duplication of ELP4 and PAX6. These cases were referred for neurological phenotypes including language impairment, developmental delay, autism and epilepsy. Six further cases with a primary diagnosis of ASD and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of 9) with neurodevelopmental phenotypes from DECIPHER. CNVs at ELP4 were only present in 1/11252 controls. We found a significant excess of CNVs in discovery cases compared with controls, p = 7.5×10-3 ; as well as for autism, p = 2.7×10-3 . Our results suggest ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy. This article is protected by copyright. All rights reserved.
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3. Aldinger KA, Lane CJ, Veenstra-VanderWeele J, Levitt P. {{Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder}}. {Autism Res};2015 (May 24)
Children with autism spectrum disorder (ASD) may present with multiple medical conditions in addition to ASD symptoms. This study investigated whether there are predictive patterns of medical conditions that co-occur with ASD, which could inform medical evaluation and treatment in ASD, as well as potentially identify etiologically meaningful subgroups. Medical history data were queried in the multiplex family Autism Genetic Resource Exchange (AGRE). Fourteen medical conditions were analyzed. Replication in the Simons Simplex Collection (SSC) was attempted using available medical condition data on gastrointestinal disturbances (GID), sleep problems, allergy and epilepsy. In the AGRE cohort, no discrete clusters emerged among 14 medical conditions. GID and seizures were enriched in unaffected family members, and together with sleep problems, were represented in both AGRE and SSC. Further analysis of these medical conditions identified predictive co-occurring patterns in both samples. For a child with ASD, the presence of GID predicts sleep problems and vice versa, with an approximately 2-fold odds ratio in each direction. These risk patterns were replicated in the SSC sample, and in addition, there was increased risk for seizures and sleep problems to co-occur with GID. In these cohorts, seizure alone was not predictive of the other conditions co-occurring, but behavioral impairments were more severe as the number of co-occurring medical symptoms increased. These findings indicate that interdisciplinary clinical care for children with ASD will benefit from evaluation for specific patterns of medical conditions in the affected child and their family members. Autism Res 2015. (c) 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.
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4. Andoh-Noda T, Akamatsu W, Miyake K, Matsumoto T, Yamaguchi R, Sanosaka T, Okada Y, Kobayashi T, Ohyama M, Nakashima K, Kurosawa H, Kubota T, Okano H. {{Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage}}. {Mol Brain};2015;8(1):31.
BACKGROUND: Rett syndrome (RTT) is one of the most prevalent neurodevelopmental disorders in females, caused by de novo mutations in the X-linked methyl CpG-binding protein 2 gene, MECP2. Although abnormal regulation of neuronal genes due to mutant MeCP2 is thought to induce autistic behavior and impaired development in RTT patients, precise cellular mechanisms underlying the aberrant neural progression remain unclear. RESULTS: Two sets of isogenic pairs of either wild-type or mutant MECP2-expressing human induced pluripotent stem cell (hiPSC) lines were generated from a single pair of 10-year-old RTT-monozygotic (MZ) female twins. Mutant MeCP2-expressing hiPSC lines did not express detectable MeCP2 protein during any stage of differentiation. The lack of MeCP2 reflected altered gene expression patterns in differentiated neural cells rather than in undifferentiated hiPSCs, as assessed by microarray analysis. Furthermore, MeCP2 deficiency in the neural cell lineage increased astrocyte-specific differentiation from multipotent neural stem cells. Additionally, chromatin immunoprecipitation (ChIP) and bisulfite sequencing assays indicated that anomalous glial fibrillary acidic protein gene (GFAP) expression in the MeCP2-negative, differentiated neural cells resulted from the absence of MeCP2 binding to the GFAP gene. CONCLUSIONS: An isogenic RTT-hiPSC model demonstrated that MeCP2 participates in the differentiation of neural cells. Moreover, MeCP2 deficiency triggers perturbation of astrocytic gene expression, yielding accelerated astrocyte formation from RTT-hiPSC-derived neural stem cells. These findings are likely to shed new light on astrocytic abnormalities in RTT, and suggest that astrocytes, which are required for neuronal homeostasis and function, might be a new target of RTT therapy.
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5. Bolling DZ, Pelphrey KA, Wyk BC. {{Trait-level temporal lobe hypoactivation to social exclusion in unaffected siblings of children and adolescents with autism spectrum disorders}}. {Dev Cogn Neurosci};2015 (Apr 30);13:75-83.
Social exclusion elicits powerful feelings of negative affect associated with rejection. Additionally, experiencing social exclusion reliably recruits neural circuitry associated with emotion processing. Recent work has demonstrated abnormal neural responses to social exclusion in children and adolescents with autism spectrum disorders (ASD). However, it remains unknown to what extent these abnormalities are due to atypical social experiences versus genetic predispositions to atypical neural processing. To address this question, the current study investigated brain responses to social exclusion compared to a baseline condition of fair play in unaffected siblings of youth with ASD using functional magnetic resonance imaging. We identified common deviations between unaffected siblings and ASD probands that might represent trait-level abnormalities in processing Social Exclusion vs. Fair Play, specifically in the right anterior temporoparietal junction extending into posterior superior temporal sulcus. Thus, hypoactivation to Social Exclusion vs. Fair Play in this region may represent a shared genetic vulnerability to developing autism. In addition, we present evidence supporting the idea that one’s status as an unaffected sibling moderates the relationship between IQ and neural activation to Social Exclusion vs. Fair Play in anterior cingulate cortex. These results are discussed in the context of previous literature on neural endophenotypes of autism.
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6. Curtin C, Humphrey K, Vronsky K, Mattern K, Nicastro S, Perrin EC. {{Expanding Horizons: A Pilot Mentoring Program Linking College/Graduate Students and Teens With ASD}}. {Clin Pediatr (Phila)};2015 (May 27)
A small pilot program of 9 youth 13 to 18 years old with high-functioning autism spectrum disorder (ASD) or Asperger’s syndrome assessed the feasibility, acceptability, and potential efficacy of an individualized mentoring program. Youth met weekly for 6 months with trained young adult mentors at a local boys and girls club. Participants reported improvements in self-esteem, social anxiety, and quality of life. Participants, parents, mentors, and staff reported that the program improved participants’ social connectedness. Although the pilot study was small, it provides preliminary data that mentoring for youth with ASD has promise for increasing self-esteem, social skills, and quality of life.
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7. Demopoulos C, Hopkins J, Kopald BE, Paulson K, Doyle L, Andrews WE, Lewine JD. {{Deficits in Auditory Processing Contribute to Impairments in Vocal Affect Recognition in Autism Spectrum Disorders: A MEG Study}}. {Neuropsychology};2015 (May 25)
OBJECTIVE: The primary aim of this study was to examine whether there is an association between magnetoencephalography-based (MEG) indices of basic cortical auditory processing and vocal affect recognition (VAR) ability in individuals with autism spectrum disorder (ASD). METHOD: MEG data were collected from 25 children/adolescents with ASD and 12 control participants using a paired-tone paradigm to measure quality of auditory physiology, sensory gating, and rapid auditory processing. Group differences were examined in auditory processing and vocal affect recognition ability. The relationship between differences in auditory processing and vocal affect recognition deficits was examined in the ASD group. RESULTS: Replicating prior studies, participants with ASD showed longer M1n latencies and impaired rapid processing compared with control participants. These variables were significantly related to VAR, with the linear combination of auditory processing variables accounting for approximately 30% of the variability after controlling for age and language skills in participants with ASD. CONCLUSIONS: VAR deficits in ASD are typically interpreted as part of a core, higher order dysfunction of the « social brain »; however, these results suggest they also may reflect basic deficits in auditory processing that compromise the extraction of socially relevant cues from the auditory environment. As such, they also suggest that therapeutic targeting of sensory dysfunction in ASD may have additional positive implications for other functional deficits. (PsycINFO Database Record
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8. D’Souza D, Booth R, Connolly M, Happe F, Karmiloff-Smith A. {{Rethinking the concepts of ‘local or global processors’: evidence from Williams syndrome, Down syndrome, and Autism Spectrum Disorders}}. {Dev Sci};2015 (May 25)
Both Williams syndrome (WS) and Autism Spectrum Disorder (ASD) have been characterized as preferentially processing local information, whereas in Down syndrome (DS) the reported tendency is to process stimuli globally. We designed a cross-syndrome, cross-task comparison to reveal similarities and differences in local/global processing in these disorders. Our in-depth study compared local/global processing across modalities (auditory-verbal/visuo-spatial) and levels of processing (high/low) in the three syndromes. Despite claims in the literature, participants with ASD or WS failed to show a consistent local processing bias, while those with DS failed to show a reliable global processing bias. Depending on the nature of the stimuli and the task, both local and global processing biases were evident in all three neurodevelopmental disorders. These findings indicate that individuals with neurodevelopmental disorders cannot simply be characterized as local or global processors.
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9. Fisher MH, Taylor JL. {{Let’s talk about it: Peer victimization experiences as reported by adolescents with autism spectrum disorder}}. {Autism};2015 (May 27)
Individuals with autism spectrum disorder experience high rates of peer victimization; yet, their personal experiences and perceptions of such victimization are not well understood. In this qualitative investigation, responses to questions about bullying and teasing were examined to gain insight into the perception of peer victimization as reported by adolescents with autism spectrum disorder. While the majority of participants provided examples of peer victimization, their situations differed from items typically assessed on bullying questionnaires. Participants were also able to provide explanations for why they believe they are targets and descriptions of their reactions to bullying. Findings from the interviews are used to provide suggestions for the development of more informative bullying assessments and prevention programs for students with autism spectrum disorder.
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10. Fisher PG. {{Will you listen to my concerns about autism?}}. {J Pediatr};2015 (Jun);166(6):1329-1332.
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11. Gray JA, Abendroth M. {{Perspectives of US Direct Care Workers on the Grief Process of Persons with Intellectual and Developmental Disabilities: Implications for Practice}}. {J Appl Res Intellect Disabil};2015 (May 27)
BACKGROUND: The study explored the grief process of persons with intellectual and developmental disabilities (PWIDDs) as perceived by direct care workers (DCWs) and how such workers can guide and support PWIDDs experiencing grief. MATERIALS AND METHODS: A thematic analysis approach was used to examine data from nine focus groups with 60 DCWs from five community-based organizations. RESULTS: Findings were supported in the context of seminal grief and bereavement theories. Three themes (i.e. reactions to loss, processing the loss and incorporating the loss) and related subthemes emerged from the data. CONCLUSIONS: PWIDDs are susceptible to traumatic grief, and DCWs are often key witnesses to such experiences. DCWs’ perspectives can guide the development of grief and bereavement training which can lead to more tailored support systems.
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12. Haigh SM, Minshew N, Heeger DJ, Dinstein I, Behrmann M. {{Over-Responsiveness and Greater Variability in Roughness Perception in Autism}}. {Autism Res};2015 (May 25)
Although sensory problems, including tactile hypersensitivity and hyposensitivity (DSM-5) are commonly associated with autism, there is a dearth of systematic and rigorous research in this domain. Here, we report findings from a psychophysical experiment that explored differences in tactile perception between individuals with autism and typically developing control participants, who, using their index finger, rated a series of surfaces on the extent of their roughness. Each surface was rated multiple times and we calculated both the average rating and the variability across trials. Relative to controls, the individuals with autism perceived the surfaces as rougher overall and exhibited greater variability in their ratings across trials. These findings characterize altered tactile perception in autism and suggest that sensory problems in autism may be the product of overly responsive and variable sensory processing. Autism Res 2014. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Kondo MA, Gray LJ, Pelka GJ, Leang SK, Christodoulou J, Tam PP, Hannan AJ. {{Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity}}. {Dev Neurobiol};2015 (May 27)
Rett syndrome is a neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) and consequent dysregulation of brain maturation. Patients suffer from a range of debilitating physical symptoms, however behavioural and emotional symptoms also severely affect their quality of life. Here we present previously unreported and clinically relevant affective dysfunction in the female heterozygous Mecp2tm1Tam mouse model of Rett syndrome (129sv and C57BL6 mixed background). The affective dysfunction and aberrant anxiety-related behaviour of the Mecp2+/- mice were found to be reversible with environmental enrichment from 4 weeks of age. The effect of exercise alone (via wheel running) was also explored, providing the first evidence that increased voluntary physical activity in an animal model of Rett syndrome is beneficial for some phenotypes. Mecp2+/- mutants displayed elevated corticosterone despite decreased Crh expression, demonstrating HPA-axis dysregulation. Environmental enrichment of Mecp2+/- mice normalised basal serum corticosterone and hippocampal BDNF protein levels. The enrichment-induced rescue appears independent of the transcriptional regulation of the MeCP2 targets Bdnf exon 4 and Crh. These findings provide new insight into the neurodevelopmental role of MeCP2 and pathogenesis of Rett syndrome, in particular the affective dysfunction. The positive outcomes of environmental stimulation and physical exercise have implications for the development of therapies targeting the affective symptoms, as well as behavioural and cognitive dimensions, of this devastating neurodevelopmental disorder. This article is protected by copyright. All rights reserved.
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14. Ohashi K, Mizuno Y, Miyachi T, Asai T, Imaeda M, Saitoh S. {{Concordance of classifications using DSM-5 and DSM-IV-TR criteria for autism spectrum disorder}}. {Pediatr Int};2015 (May 25)
INTRODUCTION: The fifth version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) was published in May of 2013. Autism spectrum disorder (ASD) has been structured for the three subtypes of pervasive developmental disorders (PDD), but the numbers of social and communication dimensions are not mentioned. METHOD: The subjects were 68 children who visited the department of psychology and development for the first time during ages 6-15 years old. We retrospectively re-examined the subjects using DSM-IV-TR criteria and DSM-5 criteria on two rules (two out of three and one out of three on the social and communication dimension) and examined the concordance rate. RESULT: Forty cases were diagnosed for PDD, and 28 cases were not diagnosed for PDD. The mean age of cases with PDD was 9.4 years, and their mean IQ were 84.0 on the Wechsler Intelligence Scale for Children – III or 62.7 on the Tanaka-Binet test, respectively. Twenty-seven (68%) out of cases with PDD were classified as ASD using DSM-5 criteria when two of the three rule was applied, while 32 (80%) of cases with PDD were classified as ASD using DSM-5 criteria when one of the three rule was applied. All cases without PDD were not diagnosed for ASD using DSM-5 criteria. DISCUSSION: DSM-5 criteria may exclude high functioning and high aged cases from ASD because they tend to be atypical. The diagnostic procedure for DSM-5 criteria is ambiguous especially in cases with high functioning and diagnosed in high age. This article is protected by copyright. All rights reserved.
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15. O’Hearn K, Velanova K, Lynn A, Wright C, Hallquist M, Minshew N, Luna B. {{Abnormalities in brain systems supporting individuation and enumeration in autism}}. {Autism Res};2015 (May 26)
Previous work indicates that adults with autism display a decreased capacity when rapidly enumerating small sets of elements (i.e., subitizing), compared to typically developing (TD) individuals. This ability is crucial for fundamental visual functions such as object individuation and parallel processing. Thus, the deficit in autism suggests limits in these skills. To examine the neural basis of this limitation, adults with and without high functioning autism rapidly enumerated 1 to 8 randomly located squares during a neuroimaging study. Typically, adults are thought to use parallel visual processes to quantify up to three or four elements, and serial processes to enumerate more (5+) elements. We hypothesized that parietal lobe regions associated with counting would be recruited with smaller sets of elements in adults with autism, compared to TD adults. Consistent with this hypothesis, activation in parietal regions increased with smaller set sizes in adults with autism compared to TD adults. Increased activation for three elements was evident in several regions, including those thought to underlie subitizing. In addition, regions specific to the counting range in TD adults were often equally active for set sizes in the subitizing range in the adults with autism. Finally, significant deactivation was evident in TD adults, presumably reflecting relative suppression of regions specialized for competing processes, but was not apparent in adults with autism. These differences in brain function in adults with autism on a simple enumeration task suggest atypical brain organization and function that is likely to impact most visual tasks, especially those with multiple elements. Autism Res 2015. (c) 2015 International Society for Autism Research, Wiley Periodicals, Inc.
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16. Roy M, Wolfgang D. {{[Eye contact in adult patients with asperger syndrome]}}. {Fortschr Neurol Psychiatr};2015 (May);83(5):269-275.
INTRODUCTION: It is unclear if individuals with autism spectrum disorders rarely hold direct eye contact because eyes are unimportant for them, or if it is actively avoided. The aim of the current investigation was to gain a better understanding for their views on direct eye contact by exploring adult patients with Asperger syndrome. METHOD: 63 adult patients with Asperger syndrome (28 females, 35 males, 21 – 62 years old) were explored about using and sensing direct eye contact by means of a standardised questionnaire. RESULT: 87 % of investigated patients depict direct eye contact as being disagreeable. They describe it as arduous and distracting. Therefore they mostly actively avoid direct eye contact. DISCUSSION: The here gained knowledge about aversion towards direct eye contact in individuals with autism should lead to a stronger understanding and acceptance of this problem in the non-autistic population.
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17. Taylor JL, Henninger NA, Mailick MR. {{Longitudinal patterns of employment and postsecondary education for adults with autism and average-range IQ}}. {Autism};2015 (May 27)
This study examined correlates of participation in postsecondary education and employment over 12 years for 73 adults with autism spectrum disorders and average-range IQ whose families were part of a larger, longitudinal study. Correlates included demographic (sex, maternal education, paternal education), behavioral (activities of daily living, maladaptive behaviors, autism symptoms), and family (size of maternal social network; maternal depressive symptoms, anxiety, and pessimism) factors. Although two-thirds of adults with autism spectrum disorder participated in competitive employment/postsecondary education during the study, fewer than 25% maintained these activities over the study period. Behavioral characteristics distinguished those who never had competitive employment/postsecondary education from those who sometimes or consistently participated in these activities. Women were considerably less likely than men to maintain employment/postsecondary education over time.
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18. Thomas S, Sciberras E, Lycett K, Papadopoulos N, Rinehart N. {{Physical Functioning, Emotional, and Behavioral Problems in Children With ADHD and Comorbid ASD: A Cross-Sectional Study}}. {J Atten Disord};2015 (May 25)
OBJECTIVE: To examine (a) physical and daily functioning in children with ADHD and autism spectrum disorder (ASD) compared with ADHD alone and (b) whether decreased physical quality of life (QoL) is associated with increased emotional and behavioral problems in children with ADHD-ASD. METHOD: Cross-sectional study comprising 392 children with confirmed ADHD (ADHD-ASD, n = 93; ADHD alone, n = 299) recruited from 21 pediatric practices in Victoria, Australia. Data were collected via parent and teacher surveys. Key measures included the Strengths and Difficulties Questionnaire (SDQ) and Pediatric Quality of Life Inventory (PedsQL). RESULTS: Children with ADHD-ASD had poorer QoL across both psychosocial and physical health domains, and also had greater parent-reported behavioral, emotional, and peer problems, compared with children with ADHD alone. Poorer physical QoL partially mediated the relationship between comorbid ASD status and poorer emotional and behavioral functioning. CONCLUSION: The comorbid overlay of ASD in ADHD appears to influence not only problems in physical functioning but also the severity of problems relating to areas of emotional and behavioral functioning.
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19. Truedsson E, Bohlin G, Wahlstedt C. {{The Specificity and Independent Contribution of Inhibition, Working Memory, and Reaction Time Variability in Relation to Symptoms of ADHD and ASD}}. {J Atten Disord};2015 (May 25)
OBJECTIVE: The aim of the present study was to investigate the specificity of inhibition, working memory (WM), and reaction time variability (RTV) in relation to symptoms of ADHD and autism spectrum disorder (ASD). METHOD: A community-based sample of schoolchildren aged 7 to 9 years (N = 200) completed tasks designed to measure inhibition, WM, and RTV. RESULTS: All neuropsychological functions were related to symptoms of both ADHD and ASD. The results from regression analyses showed that inhibition and RTV were related specifically to ADHD symptoms when controlling for symptoms of ASD. Regarding WM, no specific association with either symptom domain was evident after controlling for the other. Furthermore, independent contributions of inhibition and RTV were found in relation to ADHD symptoms after controlling for ASD symptoms. CONCLUSION: The present study underscores the relevance of controlling for ADHD symptoms when examining ASD symptoms in relation to neuropsychological functions.
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20. Weiss JA, Tint A, Paquette-Smith M, Lunsky Y. {{Perceived self-efficacy in parents of adolescents and adults with autism spectrum disorder}}. {Autism};2015 (May 27)
Many parents of adolescents and adults with autism spectrum disorder experience difficulty accessing appropriate services for their children, and may report low levels of parent self-efficacy. In an effort to identify the factors that contribute to the difficulties these families face, this study examined the role of demographic, systemic, and clinical need variables as they relate to parents’ experience of self-efficacy. Participants included 324 parents of individuals with autism spectrum disorder, 12-25 years of age. Results suggest that parent self-efficacy is related to a number of variables and not simply a child’s clinical situation, including child age, parent immigrant status, barriers to service access, and caregiver burden. Given the crucial role that parents often play in the lives of individuals with autism spectrum disorder across the lifespan, it is important that service providers support the efforts of parents who provide and access care for their children.
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21. Williams DL, Minshew NJ, Goldstein G. {{Further understanding of complex information processing in verbal adolescents and adults with autism spectrum disorders}}. {Autism};2015 (May 27)
More than 20 years ago, Minshew and colleagues proposed the Complex Information Processing model of autism in which the impairment is characterized as a generalized deficit involving multiple modalities and cognitive domains that depend on distributed cortical systems responsible for higher order abilities. Subsequent behavioral work revealed a related dissociation between concept formation and concept identification in autism suggesting the lack of an underlying organizational structure to manage increases in processing loads. The results of a recent study supported the impact of this relative weakness in conceptual reasoning on adaptive functioning in children and adults with autism. In this study, we provide further evidence of the difficulty relatively able older adolescents and adults with autism have with conceptual reasoning and provide evidence that this characterizes their difference from age- and ability-matched controls with typical development better than their differences in language. For verbal adults with autism, language may serve as a bootstrap or compensatory mechanism for learning but cannot overcome an inherent weakness in concept formation that makes information processing challenging as task demands increase.
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22. Yokoyama S, Al Mahmuda N, Munesue T, Hayashi K, Yagi K, Yamagishi M, Higashida H. {{Association Study between the CD157/BST1 Gene and Autism Spectrum Disorders in a Japanese Population}}. {Brain Sci};2015;5(2):188-200.
CD157, also referred to as bone marrow stromal cell antigen-1 (BST-1), is a glycosylphosphatidylinositol-anchored molecule that promotes pre-B-cell growth. Previous studies have reported associations between single-nucleotide polymorphisms (SNPs) of the CD157/BST1 gene with Parkinson’s disease. In an attempt to determine whether SNPs or haplotypes in the CD157/BST1 are associated with other brain disorders, we performed a case-control study including 147 autism spectrum disorder (ASD) patients at Kanazawa University Hospital in Japan and 150 unselected Japanese volunteers by the sequence-specific primer-polymerase chain reaction method combined with fluorescence correlation spectroscopy. Of 93 SNPs examined, two SNPs showed significantly higher allele frequencies in cases with ASDs than in unaffected controls (rs4301112, OR = 6.4, 95% CI = 1.9 to 22, p = 0.0007; and rs28532698, OR = 6.2, 95% CI = 1.8 to 21, p = 0.0012; Fisher’s exact test; p < 0.002 was considered significant after multiple testing correction). In addition, CT genotype in rs10001565 was more frequently observed in the ASD group than in the control group (OR = 15, 95% CI = 2.0 to 117, p = 0.0007; Fisher’s exact test). The present data indicate that genetic variation of the CD157/BST1 gene might confer susceptibility to ASDs.
