1. Bible E. {{Neurodevelopmental disorders: Transplantation therapy in a mouse model of Rett syndrome}}. {Nat Rev Neurol};2012 (Apr 10)
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2. Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. {{Complex autism spectrum disorder in a patient with a 17q12 microduplication}}. {Am J Med Genet A};2012 (Apr 4)
Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype. (c) 2012 Wiley Periodicals, Inc.
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3. Brown AS. {{Epidemiologic studies of exposure to prenatal infection and risk of schizophrenia and autism}}. {Dev Neurobiol};2012 (Apr 5)
In this review, we provide a synopsis of work on the epidemiologic evidence for prenatal infection in the etiology of schizophrenia and autism. In birth cohort studies conducted by our group and others, in utero exposure to infectious agents, prospectively obtained following biomarker assays of archived maternal sera and by obstetric records was related to an elevated risk of schizophrenia. Thus far, it has been demonstrated that prenatal exposure to influenza, elevated toxoplasma antibody, genital/reproductive infections, rubella, and other pathogens are associated with schizophrenia. Anomalies of the immune system, including enhanced maternal cytokine levels are also related to schizophrenia. Some evidence also suggests that maternal infection and immune dysfunction may be associated with autism. Although replication is required, these findings suggest that public health interventions targeting infectious exposures have the potential for preventing cases of schizophrenia and autism. Moreover, this work has stimulated translational research on the neurobiological and genetic determinants of these conditions. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012.
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4. Elsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcin C, Montiel-Nava C, Patel V, Paula CS, Wang C, Yasamy MT, Fombonne E. {{Global Prevalence of Autism and Other Pervasive Developmental Disorders}}. {Autism Res};2012 (Apr 11)
We provide a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide. A secondary aim was to consider the possible impact of geographic, cultural/ethnic, and socioeconomic factors on prevalence estimates and on clinical presentation of PDD. Based on the evidence reviewed, the median of prevalence estimates of autism spectrum disorders was 62/10 000. While existing estimates are variable, the evidence reviewed does not support differences in PDD prevalence by geographic region nor of a strong impact of ethnic/cultural or socioeconomic factors. However, power to detect such effects is seriously limited in existing data sets, particularly in low-income countries. While it is clear that prevalence estimates have increased over time and these vary in different neighboring and distant regions, these findings most likely represent broadening of the diagnostic concets, diagnostic switching from other developmental disabilities to PDD, service availability, and awareness of autistic spectrum disorders in both the lay and professional public. The lack of evidence from the majority of the world’s population suggests a critical need for further research and capacity building in low- and middle-income countries. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Fisch GS. {{Autism and epistemology III: Child development, behavioral stability, and reliability of measurement}}. {Am J Med Genet A};2012 (Apr 9)
Early diagnosis and treatment of autism increases the likelihood that symptoms associated with the disorder can be alleviated. However, the behaviors of both typically and atypically developing young infants and toddlers are quite variable and often change as these children age. Studies have shown that this is the case for same-aged children who are diagnosed with autistic disorder (AD) or other Pervasive Developmental Disabilities (PDDs). Therefore, an early accurate assessment of AD or PDD may be problematic. Moreover, instruments used to make the diagnosis may not be as reliable as desired. Statistics employed to evaluate diagnostic accuracy and behavioral stability of instruments’ or clinicians’ assessments suggest that their diagnoses have been only moderately successful. In addition, the statistics themselves have limitations that would suggest that the measures of diagnostic accuracy and behavioral stability implemented may not be as effective as they would seem. A resolution to these problems is proposed. (c) 2012 Wiley Periodicals, Inc.
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6. Joosten AV, Bundy AC, Einfeld SL. {{Context Influences the Motivation for Stereotypic and Repetitive Behaviour in Children Diagnosed with Intellectual Disability with and without Autism}}. {J Appl Res Intellect Disabil};2012 (May);25(3):262-271.
Background Children are motivated to engage in stereotypic and repetitive behaviours for a number of reasons. Their motivation seems to change according to context, but little empirical evidence supports that observation. Interventions designed to reduce the behaviours may be improved by an increased understanding of the interaction between motivation and context. Method Using Rasch analysis, we analysed data describing stereotypic behaviours from 279 Revised Motivation Assessment Scales (MAS:R). Data were gathered from two groups of children: Group 1 with intellectual disability (n = 37) and Group 2 with both intellectual disability and autism (n = 37). We examined behaviours in three contexts: free time, transition and while engaged in tasks. MAS:R distinguishes two intrinsic motivators: enhanced sensation and decreased anxiety and three extrinsic motivators: seeking attention or objects or escape. Results Significant differences in motivators were observed during free time and transition. No one motivator predominated while children were engaged in tasks. For both groups, sensory enhancement was a more likely motivator in free time and anxiety reduction was a more likely motivator during transition. Transition was the context most likely to influence extrinsic motivators, but there were significant differences between the groups. Conclusions Context influences the motivation for stereotyped and repetitive behaviours. Transition has a particularly powerful effect.
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7. Kohls G, Schulte-Ruther M, Nehrkorn B, Muller K, Fink GR, Kamp-Becker I, Herpertz-Dahlmann B, Schultz RT, Konrad K. {{Reward system dysfunction in autism spectrum disorders}}. {Soc Cogn Affect Neurosci};2012 (Apr 11)
Although it has been suggested that social deficits of autism spectrum disorders (ASDs) are related to reward circuitry dysfunction, very little is known about the neural reward mechanisms in ASD. In the current functional magnetic resonance imaging study, we investigated brain activations in response to both social and monetary reward in a group of children with ASD, relative to matched controls. Participants with ASD showed the expected hypoactivation in the mesocorticolimbic circuitry in response to both reward types. In particular, diminished activation in the nucleus accumbens was observed when money, but not when social reward, was at stake, whereas the amygdala and anterior cingulate cortex were hypoactivated within the ASD group in response to both rewards. These data indicate that the reward circuitry is compromised in ASD in social as well as in non-social, i.e. monetary conditions, which likely contributes to atypical motivated behaviour. Taken together, with incentives used in this study sample, there is evidence for a general reward dysfunction in ASD. However, more ecologically valid social reward paradigms are needed to fully understand, whether there is any domain specificity to the reward deficit that appears evident in ASD, which would be most consistent with the ASD social phenotype.
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8. Lord C, Jones RM. {{Annual Research Review: Re-thinking the classification of autism spectrum disorders}}. {J Child Psychol Psychiatry};2012 (May);53(5):490-509.
Background: The nosology of autism spectrum disorders (ASD) is at a critical point in history as the field seeks to better define dimensions of social-communication deficits and restricted/repetitive behaviors on an individual level for both clinical and neurobiological purposes. These different dimensions also suggest an increasing need for quantitative measures that accurately map their differences, independent of developmental factors such as age, language level and IQ. Method: Psychometric measures, clinical observation as well as genetic, neurobiological and physiological research from toddlers, children and adults with ASD are reviewed. Results: The question of how to conceptualize ASDs along dimensions versus categories is discussed within the nosology of autism and the proposed changes to the DSM-5 and ICD-11. Differences across development are incorporated into the new classification frameworks. Conclusions: It is crucial to balance the needs of clinical practice in ASD diagnostic systems, with neurobiologically based theories that address the associations between social-communication and restricted/repetitive dimensions in individuals. Clarifying terminology, improving description of the core features of ASD and other dimensions that interact with them and providing more valid and reliable ways to quantify them, both for research and clinical purposes, will move forward both practice and science.
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9. Rahbar MH, Samms-Vaughan M, Loveland KA, Ardjomand-Hessabi M, Chen Z, Bressler J, Shakespeare-Pellington S, Grove ML, Bloom K, Pearson DA, Lalor GC, Boerwinkle E. {{Seafood Consumption and Blood Mercury Concentrations in Jamaican Children With and Without Autism Spectrum Disorders}}. {Neurotox Res};2012 (Apr 10)
Mercury is a toxic metal shown to have harmful effects on human health. Several studies have reported high blood mercury concentrations as a risk factor for autism spectrum disorders (ASDs), while other studies have reported no such association. The goal of this study was to investigate the association between blood mercury concentrations in children and ASDs. Moreover, we investigated the role of seafood consumption in relation to blood mercury concentrations in Jamaican children. Based on data for 65 sex- and age-matched pairs (2-8 years), we used a General Linear Model to test whether there is an association between blood mercury concentrations and ASDs. After controlling for the child’s frequency of seafood consumption, maternal age, and parental education, we did not find a significant difference (P = 0.61) between blood mercury concentrations and ASDs. However, in both cases and control groups, children who ate certain types of seafood (i.e., salt water fish, sardine, or mackerel fish) had significantly higher (all P < 0.05) geometric means blood mercury concentration which were about 3.5 times that of children living in the US or Canada. Our findings also indicate that Jamaican children with parents who both had education up to high school are at a higher risk of exposure to mercury compared to children with at least one parent who had education beyond high school. Based on our findings, we recommend additional education to Jamaican parents regarding potential hazards of elevated blood mercury concentrations, and its association with seafood consumption and type of seafood.
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10. Ramaekers VT, Quadros EV, Sequeira JM. {{Role of folate receptor autoantibodies in infantile autism}}. {Mol Psychiatry};2012 (Apr 10)
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11. Sorensen PL, Basuta K, Mendoza-Morales G, Gane LW, Schneider A, Hagerman R, Tassone F. {{A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male}}. {Am J Med Genet A};2012 (Apr 9)
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12. Wegiel J, Schanen NC, Cook EH, Sigman M, Brown WT, Kuchna I, Nowicki K, Imaki H, Ma SY, Marchi E, Wierzba-Bobrowicz T, Chauhan A, Chauhan V, Cohen IL, London E, Flory M, Lach B, Wisniewski T. {{Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism}}. {J Neuropathol Exp Neurol};2012 (Apr 5)
ABSTRACT: The purposes of this study were to identify differences in patterns of developmental abnormalities between the brains of individuals with autism of unknown etiology and those of individuals with duplications of chromosome 15q11.2-q13 (dup[15]) and autism andto identify alterations that may contribute to seizures and sudden death in the latter. Brains of 9 subjects with dup(15), 10 with idiopathic autism, and 7controls were examined. In the dup(15) cohort, 7subjects (78%) had autism, 7 (78%) had seizures, and 6 (67%) hadexperienced sudden unexplained death. Subjects with dup(15) autism were microcephalic, with mean brain weights 300 g less (1,177 g) than those of subjects with idiopathic autism (1,477 g; p<0.001). Heterotopias in the alveus, CA4, and dentate gyrus and dysplasia in the dentate gyrus were detected in 89% of dup(15) autism cases but in only 10% of idiopathic autism cases (p < 0.001). By contrast, cerebral cortex dysplasia was detected in 50% of subjectswith idiopathic autism and in no dup(15) autism cases (p<0.04). The different spectrum and higher prevalence of developmental neuropathologic findings in the dup(15) cohort than in cases with idiopathic autism may contribute to the high risk of early onset of seizures and sudden death.
