1. Bevan Jones R, Thapar A, Lewis G, Zammit S. {{The association between early autistic traits and psychotic experiences in adolescence}}. {Schizophrenia research}. 2012 Jan 12.
BACKGROUND: There has been growing interest in the clinical and biological links between autistic spectrum disorder and psychotic disorders, and between symptoms of these disorders that exist below diagnostic thresholds. Whilst autism and schizophrenia are regarded as distinct disorders, recent studies support an overlap in the genetic architecture across these conditions. Although early neurodevelopmental impairment is associated with psychotic disorders in later life, evidence from longitudinal studies of the relationship between autistic traits and psychotic experiences is limited. Aims The aim of the study is to explore whether children with early autistic traits (social interaction and communication problems, and restricted, repetitive interests and behaviours) are more likely to present with psychotic experiences in early adolescence. METHOD: Longitudinal study using the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort. The mothers of 8232 children were asked about autistic traits in their children as part of the Development and Well-Being Assessment (DAWBA) at the age of 7. Of those, 6439 children completed a semi-structured clinical assessment for psychotic experiences at the age of 12. RESULTS: Children whose mothers had concerns about autistic traits in early life, in particular with regard to speech development or ‘rituals’/’habits’, were more likely to develop psychotic experiences in early adolescence. The greater the number of early autistic traits a child had, the greater their risk of developing psychotic experiences. These associations were not confounded by IQ, family history of depression or schizophrenia, gender or socio-demographic characteristics. CONCLUSIONS: Childhood autistic traits, and particularly speech problems and odd rituals or unusual habits, are associated with psychotic experiences in adolescence. This may be a result of a shared aetiology or because autistic traits may also be an early precursor of psychotic experiences.
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2. Gianoumis S, Sturmey P. {{Generalization Procedures in Training Interventionists for Individuals With Developmental Disabilities}}. {Behav Modif}. 2012 Jan 17.
The literature pertaining to training staff, parents, and peers to implement interventions for individuals with developmental disabilities was reviewed for training procedures that incorporated strategies to promote generalization. The search engines for the Journal of Applied Behavior Analysis and Pubmed(c) were used to find relevant studies. Studies met the inclusion criteria if they sufficiently operationalized their training procedure, took data on individual trainees’ performance, and used a single-subject experimental design. The training procedures were coded for generalization procedures as per Stokes and Baer. Of the 54 studies, 46 considered used procedures to promote generalization. The most prevalent generalization procedures were use of common stimuli, followed by using sufficient exemplars and mediated generalization. Studies demonstrated empirical support for these procedures producing generalized use of newly acquired direct-care skills. The remaining generalization procedures cited in Stokes and Baer were absent or far less prevalent. Future research should explore the use of these procedures and their effectiveness as a technology to bring about generalized responding of interventionists’ skills.
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3. Kumari D, Lokanga R, Yudkin D, Zhao XN, Usdin K. {{Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia}}. {Biochimica et biophysica acta}. 2012 Jan 5.
The Fragile X-associated disorders (FXDs) and Friedreich ataxia (FRDA) are genetic conditions resulting from expansion of a trinucleotide repeat in a region of the affected gene that is transcribed but not translated. In the case of the FXDs, pathology results from expansion of CGG*CCG-repeat tract in the 5′ UTR of the FMR1 gene, while pathology in FRDA results from expansion of a GAA*TTC-repeat in intron 1 of the FXN gene. Expansion occurs during gametogenesis or early embryogenesis by a mechanism that is not well understood. Expansion then produces disease pathology in various ways that are not completely understood either. In the case of the FXDs, alleles with 55-200 repeats express higher than normal levels of a transcript that is thought to be toxic, while alleles with >200 repeats are silenced. In addition, alleles with >200 repeats are associated with a cytogenetic abnormality known as a fragile site, which is apparent as a constriction or gap in the chromatin that is seen when cells are grown in presence of inhibitors of thymidylate synthase. FRDA alleles show a deficit of the FXN transcript. This review will address the role of repeat-mediated chromatin changes in these aspects of FXD and FRDA disease pathology. This article is part of a Special Issue entitled: Chromatin in time and space.
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4. Lai DC, Tseng YC, Hou YM, Guo HR. {{Gender and geographic differences in the prevalence of autism spectrum disorders in children: Analysis of data from the national disability registry of Taiwan}}. {Res Dev Disabil}. 2012 Jan 11;33(3):909-15.
The prevalence of autism spectrum disorders (ASD) in the world has increased dramatically in the recent decades. However, data at the national level are limited, and geographic differences are seldom evaluated. According to the law, the local governments in Taiwan began to certify disabled residents and provide various services in 1980, and the central government maintains a registry of certified cases. The registry started to enroll cases of ASD in 1990, providing a unique opportunity for studying ASD at the national level. Because the government discourages the certification under 3 years of age, we limited our analyses to those who were at least 3 years old. Using the registry data from 2004 to 2010, we calculated the prevalence of ASD by age, gender, and geographic area and assessed the changes over time. From 2004 to 2010, the registered cases between 3 and 17 years old increased from 3995 to 8072 annually, and the prevalence generally increased every year in all age groups (p<0.01). In each year there were more boy cases than girl cases, and the prevalence rate ratio ranged from 5.64:1 to 6.06:1 (p<0.01 in all years), with an increasing trend over time (p<0.01). A higher prevalence was observed in the urban areas over the years, and the prevalence rate ratio ranged from 2.24:1 to 2.72:1 (p<0.01 in all years), with a decreasing trend over time (p<0.01).
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5. Nakano T, Kato N, Kitazawa S. {{Superior haptic-to-visual shape matching in autism spectrum disorders}}. {Neuropsychologia}. 2012 Jan 9.
A weak central coherence theory in autism spectrum disorder (ASD) proposes that a cognitive bias toward local processing in ASD derives from a weakness in integrating local elements into a coherent whole. Using this theory, we hypothesized that shape perception through active touch, which requires sequential integration of sensorimotor traces of exploratory finger movements into a shape representation, would be impaired in ASD. Contrary to our expectation, adults with ASD showed superior performance in a haptic-to-visual delayed shape-matching task compared to adults without ASD. Accuracy in discriminating haptic lengths or haptic orientations, which lies within the somatosensory modality, did not differ between adults with ASD and adults without ASD. Moreover, this superior ability in inter-modal haptic-to-visual shape matching was not explained by the score in a unimodal visuospatial rotation task. These results suggest that individuals with ASD are not impaired in integrating sensorimotor traces into a global visual shape and that their multimodal shape representations and haptic-to-visual information transfer are more accurate than those of individuals without ASD.
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6. Verloes A, Heron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V, et le reseau D. {{Stratégie d’exploration d’une déficience intellectuelle inexpliquée}}. {Archives de pediatrie : organe officiel de la Societe francaise de pediatrie}. 2012 Jan 13.
Developmental disability/mental retardation is a major public health problem and a common cause of consultation in pediatrics, neuropediatrics, and genetics. Etiologies of mental retardation are highly heterogeneous. Diagnostic strategies have been explored in a small number of consensus publications, essentially from English-speaking countries. In these publications, the utility of the conventional karyotype, fragile X screening, metabolic workup, and brain imaging were discussed. Recently, investigations in mental disabilities have been dramatically modified by molecular cytogenetics and the emergence of new metabolic pathologies. Based on the published experiments, the Reference centers for rare disease network « mental deficiencies with rare causes » elaborated an updated protocol for the investigation of nonsyndromal mental disability that takes into account recent innovations in genetics and genomics. Whenever local facilities make it possible, we recommend array CGH investigation as the first step or, when CGH is not available, a combination of classic karyotype with systematic screening of telomeric and interstitial rearrangements by MLPA, fragile X screening in both sexes, and a reorientation of metabolic screening toward certain diseases that have recently been described: congenital disorders of glycosylation (CDG), thyroid hormone carrier deficiency, and creatine metabolism deficiency. We recommend MRI imaging only if head size is abnormal, if neurological examination is abnormal, or regression occurs if walking is not achieved by 2 years, or if development is o severely delayed.
