1. Charman T. {{The highs and lows of counting autism}}. {Am J Psychiatry}. 2011 Sep;168(9):873-5.
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2. Cheon KA, Kim YS, Oh SH, Park SY, Yoon HW, Herrington J, et al. {{Involvement of the anterior thalamic radiation in boys with high functioning autism spectrum disorders: A Diffusion Tensor Imaging study}}. {Brain Res}. 2011 Aug 16.
Background: Autism has been hypothesized to reflect neuronal disconnection. Several recent reports implicate the key thalamic relay nuclei and cortico-thalamic connectivity in the pathophysiology of autism. Accordingly, we aimed to focus on evaluating the integrity of the thalamic radiation and sought to replicate prior white matter findings in Korean boys with high-functioning autism spectrum disorders (ASD) using Diffusion Tensor Imaging (DTI). Methods: We compared fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) in 17 boys with ASD and 17 typically developing controls in the anterior thalamic radiation (ATR), superior thalamic radiation (STR), posterior thalamic radiation (PTR), corpus callosum (CC), uncinate fasciculus (UF) and inferior longitudinal fasciculus (ILF). Results: The two groups were group-matched on age, IQ, handedness and head circumference. In whole-brain voxel-wise analyses, FA was significantly reduced and MD was significantly increased in the right ATR, CC, and left UF in subjects with ASD (p<0.05, corrected). We found significantly lower FA in right and left ATR, CC, left UF and right and left ILF and significantly higher MD values of the CC in the ASD group in region of interest-based analyses. We also observed significantly higher RD values of right and left ATR, CC, left UF, left ILF in subjects with ASD compared to typically developing boys and significantly lower AD values of both ILF. Right ATR and right UF FA was significantly negatively correlated with total SRS score within the ASD group (r=-.56, p=.02). Conclusions: Our preliminary findings support evidence implicating disturbances in the thalamo-frontal connections in autism. These findings highlight the role of hypoconnectivity between the frontal cortex and thalamus in ASD.
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3. Emin Ceylan M, Fulya Maner A, Turkcan A, Aydin A. {{Autism and Metabolic Cytopathy}}. {Open Neuroimag J}. 2011;5:49-50.
LETTER TO THE EDITOR: Autism is a wide spectrum disorder and a lot of factors play role in the etiology. Autism may accompany some genetic disorders such as fragile X, tuberosclerosis, neurofibromatosis and phenylketonuria [1]. However, the absence of sufficient evidence on the etiological roles of environmental, neuroanatomical and biochemical factors has shifted the direction of research to genetics and cytology [2].
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4. Joginder Singh S, Iacono T, Gray KM. {{A comparison of Malaysian and Australian speech-language pathologists’ practices with children with developmental disabilities who are pre-symbolic}}. {Int J Speech Lang Pathol}. 2011 Oct;13(5):389-98.
The aim of this study was to explore the assessment, intervention, and family-centred practices of Malaysian and Australian speech-language pathologists (SLPs) when working with children with developmental disabilities who are pre-symbolic. A questionnaire was developed for the study, which was completed by 65 SLPs from Malaysia and 157 SLPs from Australia. Data reduction techniques were used prior to comparison of responses across questionnaire items. Results indicated that SLPs relied mostly on informal assessments. Malaysian and Australian SLPs differed significantly in terms of obtaining information from outside the clinic to inform assessment. When providing intervention, SLPs focused mostly on improving children’s pre-verbal skills. A third of Australian SLPs listed the introduction of some form of symbolic communication as an early intervention goal, compared to only a small percentage of Malaysian SLPs. Regarding family involvement, SLPs most often involved mothers, with fathers and siblings being involved to a lesser extent. Overall, it appeared that practices of Malaysian SLPs had been influenced by developments in research, although there were some areas of service delivery that continued to rely on traditional models. Factors leading to similarities and differences in practice of SLPs from both countries as well as clinical and research implications of the study are discussed.
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5. Lovell B, Moss M, Wetherell M. {{The psychosocial, endocrine and immune consequences of caring for a child with autism or ADHD}}. {Psychoneuroendocrinology}. 2011 Aug 31.
Research that has assessed the psychophysiological consequences of caregiver stress in young and middle aged caregivers, that is, in populations not contending with age associated decline of the endocrine and immune systems, has been scarce and yielded inconsistent findings. To extend work in this area, this study assessed the psychosocial, endocrine and immune consequences of caregiver stress in a cross sectional sample of young and middle aged caregivers of children with autism and attention deficit hyperactivity disorder (ADHD) compared against parents of typically developing children. Caregivers (n=56) and parent controls (n=22) completed measures of psychological distress (perceived stress, anxiety/depression), social support and physical health complaints. To capture important indices of the diurnal cortisol pattern, cortisol was measured at waking, 30min post waking, 1200h and 2200h on two consecutive weekdays. Venous blood was taken to assess systemic concentrations of proinflammatory biomarkers, interleukin-6 (IL-6) and C-reactive protein (CRP). Caregivers scored markedly higher on all measures of psychological distress; scores on social support subscales, however, were significantly lower in this group. Diurnal patterns of cortisol secretion did not differentiate between the groups; however, caregivers displayed elevated systemic concentrations of the proinflammatory biomarker, CRP and reported more frequent episodes of physical ill health. The stress of caregiving exacts a significant psychophysiological toll, that is, even in the absence of HPA dysregulation, caregivers demonstrated elevated concentrations of proinflammatory biomarkers and, therefore, might be at greater risk for diseases fostered by disinhibition of the inflammatory response.
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6. Maljaars J, Noens I, Jansen R, Scholte E, van Berckelaer-Onnes I. {{Intentional communication in nonverbal and verbal low-functioning children with autism}}. {J Commun Disord}. 2011 Aug 5.
In this study we characterized profiles of communicative functions and forms of children with autism and intellectual disability (n=26), as compared to typically developing children (n=26) with a comparable nonverbal mental age (2-5 years). Videotapes of the Communication and Symbolic Behavior Scales – Developmental Profile were analyzed using a standardized observation scheme in which three main functions were distinguished: behavior regulation, social interaction, and joint attention. Different forms of communication were also investigated: gestures, vocalizations/verbalizations, and eye gaze. Results indicated that in typically developing children the proportion of communication for the purpose of joint attention was much higher than for behavior regulation, whereas in children with autism the opposite pattern was seen. Low-functioning nonverbal children with autism mainly communicated for behavior regulation and not or only rarely for declarative purposes. Generally, this subgroup used the least complex forms to communicate. Low-functioning verbal children with autism differed from typically developing children only in the rate, not in the proportion of communication for specific functions. Combinations of three different communicative forms were used by verbal children with autism less frequently than by typically developing children. Learning outcomes: After reading this paper, readers should be able to: (1) describe early development of communicative functions, (2) explain differences in communication profiles with respect to form and function between verbal and nonverbal low-functioning children with autism and typically developing children matched on nonverbal mental age and (3) discuss clinical implications of the findings for communication interventions in verbal and nonverbal low-functioning children with autism.
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7. Matson ML, Matson JL, Beighley JS. {{Comorbidity of physical and motor problems in children with autism}}. {Res Dev Disabil}. 2011 Sep 2.
Autism and the related pervasive developmental disorders are a heavily researched group of neurodevelopmental conditions. In addition to core symptoms, there are a number of other physical and motor conditions that co-occur at high rates. This paper provides a review of factors and behaviors that correlate highly with disorders on the autism spectrum. Among these conditions are premature birth, birth defects, gross and fine motor skills, and obesity. Each of these topics is addressed, and what researchers have found are presented. These data have important implications for the types of collateral behaviors that should be assessed and treated, along with the core symptoms of autism.
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8. McKay LS, Simmons DR, McAleer P, Marjoram D, Piggot J, Pollick FE. {{Do distinct atypical cortical networks process biological motion information in adults with Autism Spectrum Disorders?}}. {Neuroimage}. 2011 Aug 23.
Whether people with Autism Spectrum Disorders (ASDs) have a specific deficit when processing biological motion has been a topic of much debate. We used psychophysical methods to determine individual behavioural thresholds in a point-light direction discrimination paradigm for a small but carefully matched groups of adults (N=10 per group) with and without ASDs. These thresholds were used to derive individual stimulus levels in an identical fMRI task, with the purpose of equalising task performance across all participants whilst inside the scanner. The results of this investigation show that despite comparable behavioural performance both inside and outside the scanner, the group with ASDs shows a different pattern of BOLD activation from the TD group in response to the same stimulus levels. Furthermore, connectivity analysis suggests that the main differences between the groups are that the TD group utilise a unitary network with information passing from temporal to parietal regions, whilst the ASD group utilise two distinct networks; one utilising motion sensitive areas and another utilising form selective areas. Furthermore, a temporal-parietal link that is present in the TD group is missing in the ASD group. We tentatively propose that these differences may occur due to early dysfunctional connectivity in the brains of people with ASDs, which to some extent is compensated for by rewiring in high functioning adults.
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9. Spencer L, Lyketsos CG, Samstad E, Dokey A, Rostov D, Chisolm MS. {{A suicidal adult in crisis: an unexpected diagnosis of autism spectrum disorder}}. {Am J Psychiatry}. 2011 Sep;168(9):890-2.
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10. Tondo M, Poo P, Naudo M, Ferrando T, Genoves J, Molero M, et al. {{Predisposition to epilepsy in fragile X syndrome: Does the Val66Met polymorphism in the BDNF gene play a role?}}. {Epilepsy Behav}. 2011 Sep 2.
Epilepsy is detected in about 23% of patients with fragile X syndrome (FXS). Absence or reduced levels of the fragile X mental retardation protein (FMRP), a global regulator of translation in neurons and an important factor in synaptic plasticity, produce the observed epileptic patterns. The brain-derived neurotrophic factor (BDNF) gene is a specific regulator of synaptic plasticity, and disturbances in its function cause dendrite abnormalities similar to those observed in FXS. A putative reciprocal regulation of FMRP and BDNF has been hypothesized. The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS. We investigated the relationship of this Met66 allele to the prevalence of epilepsy in 77 patients with FXS. No association was observed between this polymorphism and epilepsy in our group of patients. Therefore, it should not be considered a biomarker for developing epilepsy in patients with FXS.
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11. Uddin LQ, Menon V, Young CB, Ryali S, Chen T, Khouzam A, et al. {{Multivariate Searchlight Classification of Structural Magnetic Resonance Imaging in Children and Adolescents with Autism}}. {Biol Psychiatry}. 2011 Sep 2.
BACKGROUND: Autism spectrum disorders (ASD) are neurodevelopmental disorders with a prevalence of nearly 1:100. Structural imaging studies point to disruptions in multiple brain areas, yet the precise neuroanatomical nature of these disruptions remains unclear. Characterization of brain structural differences in children with ASD is critical for development of biomarkers that may eventually be used to improve diagnosis and monitor response to treatment. METHODS: We use voxel-based morphometry along with a novel multivariate pattern analysis approach and searchlight algorithm to classify structural magnetic resonance imaging data acquired from 24 children and adolescents with autism and 24 age-, gender-, and IQ-matched neurotypical participants. RESULTS: Despite modest voxel-based morphometry differences, multivariate pattern analysis revealed that the groups could be distinguished with accuracies of approximately 90% based on gray matter in the posterior cingulate cortex, medial prefrontal cortex, and bilateral medial temporal lobes-regions within the default mode network. Abnormalities in the posterior cingulate cortex were associated with impaired Autism Diagnostic Interview communication scores. Gray matter in additional prefrontal, lateral temporal, and subcortical structures also discriminated between groups with accuracies between 81% and 90%. White matter in the inferior fronto-occipital and superior longitudinal fasciculi, and the genu and splenium of the corpus callosum, achieved up to 85% classification accuracy. CONCLUSIONS: Multiple brain regions, including those belonging to the default mode network, exhibit aberrant structural organization in children with autism. Brain-based biomarkers derived from structural magnetic resonance imaging data may contribute to identification of the neuroanatomical basis of symptom heterogeneity and to the development of targeted early interventions.
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12. Wang L, Li J, Jia M, Yue W, Ruan Y, Lu T, et al. {{No association of polymorphisms in the CDK5, NDEL1, and LIS1 with autism in Chinese Han population}}. {Psychiatry Res}. 2011 Sep 2.
Autism is a pervasive neurodevelopmental disorder. CDK5 (cyclin-dependent kinase 5) and its interacting molecules are involved in neurodevelopment. We performed a family-based association analysis between CDK5, NDEL1, and LIS1 polymorphisms and autism in Chinese Han population. Our study did not detect significant association. It indicated that common genetic variations in these genes might not play a role in the genetic predisposition to autism.
