1. Baldacara L, Diniz T, Parreira B, Milhomem J, Baldacara R. {{Organic mental disorder after pneumococcal meningoencephalitis with autism-like symptoms}}. {Rev Bras Psiquiatr}. 2011 Dec;33(4):410-1.
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2. Baranek GT, Danko CD, Skinner ML, Bailey DB, Jr., Hatton DD, Roberts JE, et al. {{Video analysis of sensory-motor features in infants with fragile x syndrome at 9-12 months of age}}. {J Autism Dev Disord}. 2012 Jan;42(1):146.
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3. Boucher J. {{Research Review: Structural language in autistic spectrum disorder – characteristics and causes}}. {J Child Psychol Psychiatry}. 2011 Dec 21.
Background: Structural language anomalies or impairments in autistic spectrum disorder (ASD) are theoretically and practically important, although underrecognised as such. This review aims to highlight the ubiquitousness of structural language anomalies and impairments in ASD, and to stimulate investigation of their immediate causes and implications for intervention. Method: Studies of structural language in ASD are reviewed (based on a search of the literature and selected as meeting defined inclusion criteria), and explanatory hypotheses are discussed. Results: Some individuals with ASD never acquire language. Amongst those who do, language abilities range from clinically normal (ALN) to various degrees of impairment (ALI). Developmental trajectories and individual profiles are diverse, and minority subgroups have been identified. Specifically: language is commonly but not always delayed and delayed early language is always characterised by impaired comprehension and odd utterances, and sometimes by deviant articulation and grammar. Nevertheless, by school age an ‘ASD-typical’ language profile emerges from group studies, with articulation and syntax least affected, and comprehension, semantics and certain facets of morphology most affected. Thus, even individuals with ALN have poor comprehension relative to expressive language; also semantic-processing anomalies and idiosyncratic word usage. It is argued that impaired socio-emotional-communicative relating, atypical sensory-perceptual processing, and uneven memory/learning abilities may underlie shared language anomalies across the spectrum; and that varying combinations of low nonverbal intelligence, semantic memory impairment and comorbidities including specific language impairment (SLI), hearing impairment, and certain medical syndromes underlie ALI and variation in individual profiles. Conclusions: Structural language is universally affected in ASD, due to a complex of shared and unshared causal factors. There is an urgent need for more research especially into the characteristics and causes of clinically significant language impairments.
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4. Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, et al. {{Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice}}. {Am J Med Genet A}. 2011 Dec 21.
Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurodevelopmental disorder leading to cognitive and motor impairment, epilepsy, and autonomic dysfunction in females. Since the discovery that RTT is caused by mutations in MECP2, large retrospective genotype-phenotype correlation studies have been performed. A number of general genotype-phenotype relationships were confirmed and specific disorder profiles were described. Nevertheless, conflicting results are still under discussion, partly due to the variability in classification of mutations, assessment tools, and structure of the data sets. The aim of this study was to investigate relationships between genotype and specific clinical data collected by the same experienced physician in a well-documented RTT cohort, and evaluate its prognostic value in counseling young parents with a newly diagnosed RTT girl regarding her future outcome. The Maastricht-Leuven Rett Syndrome Database is a register of 137 molecularly confirmed clinical RTT cases, containing both molecular and clinical data on examination and follow up by the same experienced physician. Although the general genotype-phenotype relationships were confirmed, the clinical severity was still found to be very variable. We therefore recommend caution in using genotype-phenotype data in the prognosis of outcome for children in Rett syndrome. Early diagnosis, early intervention, and preventive management are imperative for better outcomes and better quality of daily life for RTT females and their families. (c) 2011 Wiley Periodicals, Inc.
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5. Mostafa GA, Al-Ayadhi LY. {{The possible link between the elevated serum levels of neurokinin A and anti-ribosomal P protein antibodies in children with autism}}. {J Neuroinflammation}. 2011 Dec 21;8(1):180.
ABSTRACT: BACKGROUND: Neurogenic inflammation is orchestrated by a large number of neuropeptides. Tachykinins (substance P, neurokinin A and neurokinin B) are pro-inflammatory neuropeptides that may play an important role in some autoimmune neuroinflammatory diseases. Autoimmunity may have a role in the pathogenesis of autism in some patients. We are the first to measure serum neurokinin A levels in autistic children. The relationship between serum levels of neurokinin A and anti-ribosomal P protein antibodies was also studied. METHODS: Serum neurokinin A and anti-ribosomal P protein antibodies were measured in 70 autistic children in comparison to 48 healthy-matched children. RESULTS: Autistic children had significantly higher serum neurokinin A levels than healthy controls (P < 0.001). Children with severe autism had significantly higher serum neurokinin A levels than patients with mild to moderate autism (P < 0.001). Increased serum levels of neurokinin A and anti-ribosomal P protein antibodies were found in 57.1% and 44.3%, respectively of autistic children. There was significant positive correlations between serum levels of neurokinin A and anti-ribosomal P protein antibodies (P = 0.004). CONCLUSIONS: Serum neurokinin A levels were elevated in some autistic children and they were significantly correlated to the severity of autism and to serum levels of anti-ribosomal P protein antibodies. However, this is an initial report that warrants further research to determine the pathogenic role of neurokinin A and its possible link to autoimmunity in autism. The therapeutic role of tachykinin receptor antagonists, a potential new class of anti-inflammatory medications, should also be studied in autism.
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6. Obrusnikova I, Miccinello DL. {{Parent perceptions of factors influencing after-school physical activity of children with autism spectrum disorders}}. {Adapt Phys Activ Q}. 2012 Jan;29(1):63-80.
The study assessed parental perceptions of the benefits of physical activity (PA) and the factors that influence participation of children with autism spectrum disorder in PA after school. Data were collected from 103 parents using an online open-ended questionnaire and focus-group interviews. Data were analyzed using a socioecological model. Parents provided 225 responses that were coded as advantages, 106 as disadvantages, 225 as facilitators, and 250 as barriers of PA. The most frequently reported advantages were physical, followed by psychosocial, and cognitive. Disadvantages were psychosocial and physical. The most frequently reported barriers were intrapersonal, followed by interpersonal, physical, community, and institutional. Facilitators were intrapersonal, followed by physical, interpersonal, community, and institutional. Public policy factors were elicited in the interviews.
7. Paton B, Hohwy J, Enticott PG. {{The Rubber Hand Illusion Reveals Proprioceptive and Sensorimotor Differences in Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2011 Dec 22.
Autism spectrum disorder (ASD) is characterised by differences in unimodal and multimodal sensory and proprioceptive processing, with complex biases towards local over global processing. Many of these elements are implicated in versions of the rubber hand illusion (RHI), which were therefore studied in high-functioning individuals with ASD and a typically developing control group. Both groups experienced the illusion. A number of differences were found, related to proprioception and sensorimotor processes. The ASD group showed reduced sensitivity to visuotactile-proprioceptive discrepancy but more accurate proprioception. This group also differed on acceleration in subsequent reach trials. Results are discussed in terms of weak top-down integration and precision-accuracy trade-offs. The RHI appears to be a useful tool for investigating multisensory processing in ASD.
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8. Peprah E. {{Fragile X Syndrome: The FMR1 CGG Repeat Distribution Among World Populations}}. {Ann Hum Genet}. 2011 Dec 21.
Fragile X syndrome (FXS) is characterized by moderate to severe intellectual disability, which is accompanied by macroorchidism and distinct facial morphology. FXS is caused by the expansion of the CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. The syndrome has been studied in ethnically diverse populations around the world and has been extensively characterized in several populations. Similar to other trinucleotide expansion disorders, the gene-specific instability of FMR1 is not accompanied by genomic instability. Currently we do not have a comprehensive understanding of the molecular underpinnings of gene-specific instability associated with tandem repeats. Molecular evidence from in vitro experiments and animal models supports several pathways for gene-specific trinucleotide repeat expansion. However, whether the mechanisms reported from other systems contribute to trinucleotide repeat expansion in humans is not clear. To understand how repeat instability in humans could occur, the CGG repeat expansion is explored through molecular analysis and population studies which characterized CGG repeat alleles of FMR1. Finally, the review discusses the relevance of these studies in understanding the mechanism of trinucleotide repeat expansion in FXS.
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9. Siegel M, Doyle K, Chemelski B, Payne D, Ellsworth B, Harmon J, et al. {{Specialized Inpatient Psychiatry Units for Children with Autism and Developmental Disorders: A United States Survey}}. {J Autism Dev Disord}. 2011 Dec 22.
A cross sectional survey was performed to obtain the characteristics of specialized inpatient psychiatry units exclusively serving children with autism and other developmental disorders in the United States. Identified units were surveyed on basic demographic characteristics, clinical challenges and therapeutic modalities. Average length of stay was 42.3 days, children with autism spectrum disorders constituted the majority of the inpatient population (62.5-87.5%), and obtaining adequate post-discharge services was identified as the greatest challenge. Health policy implications and future research directions are suggested.
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10. Van der Aa N, Van den Bergh M, Ponomarenko N, Verstraete L, Ceulemans B, Storm K. {{Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome}}. {Mol Syndromol}. 2011 Sep;1(6):290-3.
We screened a cohort of 5 male and 20 female patients with a Rett spectrum disorder for mutations in the coding region of FOXG1, previously shown to cause the congenital variant of Rett syndrome. Two de novo mutations were identified. The first was a novel missense mutation, p.Ala193Thr (c.577G>A), in a male patient with congenital Rett syndrome, and the second was the p.Glu154GlyfsX301 (c.460dupG) truncating mutation in a female with classical Rett syndrome, a mutation that was previously reported in an independent patient. The overall rate of FOXG1 mutations in our cohort is 8%. Our findings stress the importance of FOXG1 analysis in male patients with Rett syndrome and in female patients when mutations in the MECP2 and CDKL5 genes have been excluded.
