1. Chojnicka I, Ploski R. {{[Polish version of the ADOS (autism diagnostic observation schedule-generic)]}}. {Psychiatr Pol};2012 (Sep-Oct);46(5):781-789.
The article presents the Polish version of the autism diagnostic observation schedule-generic (ADOS), which together with the autism diagnostic interview-revised (ADI-R) is cited as the « gold standard » for the diagnosis of autism. The ADOS is a standardised, semistructured observation protocol appropriate for children and adults of differing age and language levels. It is linked to ICD-10 and DSM-IV-TR criteria. The ADOS consists of four modules, ranging from module 1 for nonverbal individuals to module 4 for verbally fluent adults. The adequate inter-rater reliability for items has been established. The protocol has high discriminant validity and distinguishes children with pervasive developmental disorders from children, who are outside of the spectrum. Although it does not enable to distinguish individuals with pervasive developmental disorder, unspecified from individuals with childhood autism. The paper presents subsequent steps of the translation process of the original version into Polish, as well as a chosen adaptation strategy of the Polish version. The ADOS is a very useful tool both for clinical diagnosis and for the scientific purpose diagnosis. In this last case it is extremely important to use a standardised method. Until now, there was no standardised diagnostic tool for autism in Poland.
2. de Bildt A, Oosterling IJ, van Lang ND, Kuijper S, Dekker V, Sytema S, Oerlemans AM, van Steijn DJ, Visser JC, Rommelse NN, Minderaa RB, van Engeland H, van der Gaag RJ, Buitelaar JK, de Jonge MV. {{How to Use the ADI-R for Classifying Autism Spectrum Disorders? Psychometric Properties of Criteria from the Literature in 1,204 Dutch Children}}. {J Autism Dev Disord};2013 (Feb 9)
The algorithm of the Autism Diagnostic Interview-Revised provides criteria for autism versus non-autism according to DSM-IV. Criteria for the broader autism spectrum disorders are needed. This study investigated the validity of seven sets of criteria from the literature, in 1,204 Dutch children (aged 3-18 years) with and without mental retardation. The original criteria (Rutter et al. in ADI-R Autism Diagnostic Interview Revised. Manual. Western Psychological Services, Los Angeles, 2003) well discriminated ASD from non-ASD in MR. All other criteria (IMGSAC in Am Soc Hum Genet 69:570-581 2001; Sung et al. in Am J Hum Genet 76: 68-81, 2005; Risi et al. in J Am Acad Child Adolesc Psychiatry 45: 1094-1103, 2006) were sensitive at the cost of specificity, bearing the risk of overinclusiveness. In the group without MR, clinicians should decide whether sensitivity or specificity is aimed for, to choose the appropriate criteria. Including the Autism Diagnostic Observation Schedule revised algorithms in the classification, the specificity increases, at the cost of sensitivity. This study adds to a more valid judgment on which criteria to use for specific objectives.
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3. Flintoft L. {{Disease genetics: Rare inherited mutations in autism}}. {Nat Rev Genet};2013 (Feb 12)
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4. Hallett V, Lecavalier L, Sukhodolsky DG, Cipriano N, Aman MG, McCracken JT, McDougle CJ, Tierney E, King BH, Hollander E, Sikich L, Bregman J, Anagnostou E, Donnelly C, Katsovich L, Dukes K, Vitiello B, Gadow K, Scahill L. {{Exploring the Manifestations of Anxiety in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb 12)
This study explores the manifestation and measurement of anxiety symptoms in 415 children with ASDs on a 20-item, parent-rated, DSM-IV referenced anxiety scale. In both high and low-functioning children (IQ above vs. below 70), commonly endorsed items assessed restlessness, tension and sleep difficulties. Items requiring verbal expression of worry by the child were rarely endorsed. Higher anxiety was associated with functional language, IQ above 70 and higher scores on several other behavioral measures. Four underlying factors emerged: Generalized Anxiety, Separation Anxiety, Social Anxiety and Over-arousal. Our findings extend our understanding of anxiety across IQ in ASD and provide guidance for improving anxiety outcome measurement.
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5. Higashimori H, Morel L, Huth J, Lindemann L, Dulla C, Taylor A, Freeman M, Yang Y. {{Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X Mouse}}. {Hum Mol Genet};2013 (Feb 7)
Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by the loss-of-function of fragile X mental retardation protein (FMRP). The loss of FMRP function in neurons abolishes its suppression on mGluR1/5-dependent dendritic protein translation, enhancing mGluR1/5-dependent synaptic plasticity and other disease phenotypes in FXS. In this study, we describe a new activation function of FMRP in regulating protein expression in astroglial cells. We found that astroglial glutamate transporter subtype GLT1 and glutamate uptake is significantly reduced in cortex of fmr1(-/-) mice. Correspondingly, neuronal excitability is also enhanced in acute fmr1(-/-) (but not in fmr1(+/+) control) cortical slices treated with low doses (10 microM) of the GLT1 specific inhibitor dihydrokainate (DHK). Using mismatched astrocyte and neuron co-cultures, we demonstrate that the loss of astroglial (but not neuronal) FMRP particularly reduces neuron-dependent GLT1 expression and glutamate uptake in co-cultures. Interestingly, protein (but not mRNA) expression and the DHPG-dependent Ca(2+) responses of astroglial mGluR5 receptor are also selectively reduced in fmr1(-/-) astrocytes and brain slices, attenuating neuron-dependent GLT1 expression. Subsequent FMRP immunoprecipitation and QRT-PCR analysis showed that astroglial mGluR5 (but not GLT1) mRNA is associated with FMRP. In summary, our results provide evidence that FMRP positively regulates translational expression of mGluR5 in astroglial cells, and FMRP-dependent down-regulation of mGluR5 underlies GLT1 dysregulation in fmr1(-/-) astrocytes. The dysregulation of GLT1 and reduced glutamate uptake may potentially contribute to enhanced neuronal excitability observed in mouse model of FXS.
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6. McLeod F, Ganley R, Williams L, Selfridge J, Bird A, Cobb SR. {{Reduced seizure threshold and altered network oscillatory properties in a mouse model of Rett syndrome}}. {Neuroscience};2013 (Feb 12);231:195-205.
Rett syndrome (RTT) is a disorder with a pronounced neurological phenotype and is caused mainly by mutations in the X-linked gene MECP2. A common feature of RTT is an abnormal electroencephalography and a propensity for seizures. In the current study we aimed to assess brain network excitability and seizure propensity in a mouse model of RTT. Mice in which Mecp2 expression was silenced (Mecp2(stop/y)) showed a higher seizure score (mean=6+/-0.8 compared to 4+/-0.2 in wild-type [WT]) and more rapid seizure onset (median onset=10min in Mecp2(stop/y) and 32min in WT) when challenged with the convulsant drug kainic acid (25mg/kg). Hippocampal slices from Mecp2(stop/y) brain displayed no spontaneous field potential activities under control conditions but showed higher power gamma frequency field potential oscillations compared to WT in response to kainic acid (400nM) in vitro. Brain slices challenged with the GABA(A)-receptor antagonist bicuculline (0.1-10muM) and the potassium channel blocker 4-aminopyridine (1-50muM) also revealed differences between genotypes with hippocampal circuits from Mecp2(stop/y) mouse slices showing enhanced epileptiform burst duration and frequency. In contrast to these network level findings, single cell analysis of pyramidal cells by whole-cell patch clamp recording revealed no detectable differences in synaptic or biophysical properties between methyl-CpG-binding protein 2 (MeCP2)-containing and MeCP2-deficient neurons. These data support the proposal that loss of MeCP2 alters network level excitability in the brain to promote epileptogenesis.
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7. Megremi AS. {{Is fever a predictive factor in the autism spectrum disorders?}}. {Med Hypotheses};2013 (Feb 7)
Autism spectrum disorders (ASD) display such a marked increase in recent decades that researchers speak of « epidemic outbreak » of the disease. Although the diagnostic framework has been expanded and thus more disorders now fall within the autistic spectrum, no one disputes the increased incidence of autism in modern societies, making it a major public health problem. On the other hand, heterogeneity is a major feature of the disorder, both in terms of the etiopathogenesis as well as to the phenotypic expression, natural history and evolution. Consequently, there is considerable research interest in determining factors which are etiopathogenetically, prognostically, preventively or/and therapeutically associated with the disorder. Literature data indicate that probably there are differences in susceptibility to various infections between normal and autistic children. In addition, some autistic children show improvement in the characteristics of their autistic behavior during febrile incident and repression of fever (through antipyretics) might be associated with the onset of autistic disorder. Since fever has been associated with mental illness since the time of Hippocrates already and the presence of fever is associated with a favorable outcome in various pathologic conditions, it is assumed that there are probably two subgroups of autistic children: those who have the possibility to develop acute febrile incidents and those who develop acute incidents without fever. If this is the case, it is important to know whether there are differences between the two subgroups in various biological markers (cytokines/chemokines, autoantibodies), neuroimaging findings, personal and family history of these children (use of drugs, vaccinations, history of autoimmunity, etc.) and, if the first subgroup consists of autistic people of higher functionality and better outcome, or not. If such a classification is real, is there a possibility for the fever to be used as a predictor of the autistic disorder outcome and of whether that person will achieve an acceptable level of functionality in the future? If there are positive answers to these questions, are autistic children, who develop fever, at a very critical stage in evolutionary terms, where it is very important not to lose the defense mechanism of fever development and thus mast use the fever repression methods (antipyretic drugs for example) with caution and chariness? If it is confirmed that autistic children with high fevers are of higher functionality, it is possible for preventive intervention programs to be developed where children are exposed to the least possible chemical drugs intervention (antipyretics, antibiotics, etc.) or even selective vaccination. Further experimental, epidemiological and clinical studies are necessary to investigate the above.
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8. Nordahl CW, Braunschweig D, Iosif AM, Lee A, Rogers S, Ashwood P, Amaral DG, Van de Water J. {{Maternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder}}. {Brain Behav Immun};2013 (Feb 7)
Autism spectrum disorder (ASD) is very heterogeneous and multiple subtypes and etiologies likely exist. The maternal immune system has been implicated in the pathogenesis of some forms of ASD. Previous studies have identified the presence of specific maternal IgG autoantibodies with reactivity to fetal brain proteins at 37 and 73KDa in up to 12% of mothers of children with ASD. The current study evaluates the presence of these autoantibodies in an independent cohort of mothers of 181 preschool-aged male children (131 ASD, 50 typically developing [TD] controls). We also investigated whether ASD children born to mothers with these autism-specific maternal IgG autoantibodies exhibit a distinct neural phenotype by evaluating total brain volume using structural magnetic resonance imaging (MRI). Of the 131 ASD children, 10 (7.6%) were born to mothers with the 37/73Kda IgG autoantibodies (ASD-IgG). The mothers of the remaining ASD children and all TD controls were negative for these paired autoantibodies. While both ASD groups exhibited abnormal brain enlargement that is commonly observed in this age range, the ASD-IgG group exhibited a more extreme 12.1% abnormal brain enlargement relative to the TD controls. In contrast, the remaining ASD children exhibited a smaller 4.4% abnormal brain enlargement relative to TD controls. Lobar and tissue type analyses revealed that the frontal lobe is selectively enlarged in the ASD-IgG group and that both gray and white matter are similarly affected. These results suggest that maternal autoantibodies associated with autism spectrum disorder may impact brain development leading to abnormal enlargement.
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9. Roullet FI, Lai JK, Foster JA. {{In utero exposure to valproic acid and autism – a current review of clinical and animal studies}}. {Neurotoxicol Teratol};2013 (Feb 7)
Valproic acid (VPA) is both an anti-convulsant and a mood stabilizer. Clinical studies over the past 40 years have shown that exposure to VPA in utero is associated with birth defects, cognitive deficits, and increased risk of autism. Two recent FDA warnings related to use of VPA in pregnancy emphasize the need to reevaluate its use clinically during child-bearing years. The emerging clinical evidence showing a link between VPA exposure and both cognitive function and risk of autism brings to the forefront the importance of understanding how VPA exposure influences neurodevelopment. In the past 10 years, animal studies have investigated anatomical, behavioral, molecular, and physiological outcomes related to in utero VPA exposure. Behavioral studies show that VPA exposure in both rats and mice lead to autistic-like behaviors in the offspring, including social behavior deficits, increased repetitive behaviors, and deficits in communication. Based on this work VPA maternal challenge in rodents has been proposed as an animal model to study autism. This model has both face and construct validity, however, like all animal models there are limitations to its translational to the clinical setting. Here we provide a review of clinical studies that examined pregnancy outcomes of VPA use and we review the related animals studies.
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10. Stagg SD, Davis R, Heaton P. {{Associations Between Language Development and Skin Conductance Responses to Faces and Eye Gaze in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Feb 12)
Attention to social stimuli is associated with language development, and arousal is associated with the increased viewing of stimuli. We investigated whether skin conductance responses (SCRs) are associated with language development in autism spectrum disorder (ASD): a population that shows abnormalities in both attention to others and language development. A sample of 32 children with ASD (7-15 year; M = 9 year) was divided into two groups, based on language onset histories. A typically developing comparison group consisted of 18 age and IQ matched children. SCRs were taken as the participants viewed faces. SCRs differentiated the ASD group based on language onset and were associated with abnormal attention to gaze in infancy and subsequent language development.
