1. Blacher J, Christensen L. {{Sowing the seeds of the autism field: leo kanner (1943)}}. {Intellect Dev Disabil};2011 (Jun);49(3):172-191.
Abstract More than 65 years after Leo Kanner published his seminal article, research on autism continues to be an area of increasing interest. Although much progress has been made, this field is still in its infancy, and many avenues of research are just beginning to be pursued. Despite the time that has passed, the syndrome Kanner identified and his comments about the children he observed continue to have meaning today, and although some of his suggestions about the etiology and presentation of autism were grounded in the thinking of his day, many of his observations were quite prescient. In this paper we explore Kanner’s contributions to the field of autism, discuss how the field has changed, and suggest ways that research on autism spectrum disorders can continue to move forward.
2. Catarino A, Churches O, Baron-Cohen S, Andrade A, Ring H. {{Atypical EEG complexity in autism spectrum conditions: A multiscale entropy analysis}}. {Clin Neurophysiol};2011 (Jun 3)
OBJECTIVE: Intrinsic complexity subserves adaptability in biological systems. One recently developed measure of intrinsic complexity of biological systems is multiscale entropy (MSE). Autism spectrum conditions (ASC) have been described in terms of reduced adaptability at a behavioural level and by patterns of atypical connectivity at a neural level. Based on these observations we aimed to test the hypothesis that adults with ASC would show atypical intrinsic complexity of brain activity as indexed by MSE analysis of electroencephalographic (EEG) activity. METHODS: We used MSE to assess the complexity of EEG data recorded from 15 participants with ASC and 15 typical controls, during a face and chair matching task. RESULTS: Results demonstrate a reduction of EEG signal complexity in the ASC group, compared to typical controls, over temporo-parietal and occipital regions. No significant differences in EEG power spectra were observed between groups, indicating that changes in complexity values are not a reflection of changes in EEG power spectra. CONCLUSIONS: The results are consistent with a model of atypical neural integrative capacity in people with ASC. SIGNIFICANCE: Results suggest that EEG complexity, as indexed by MSE measures, may also be a marker for disturbances in task-specific processing of information in people with autism.
3. Delmolino L, Harris SL. {{Matching Children on the Autism Spectrum to Classrooms: A Guide for Parents and Professionals}}. {J Autism Dev Disord};2011 (Jun 7)
Meeting the needs of a learner with an autism spectrum disorder requires specialized expertise. Assessing the extent to which a potential program or classroom meets a child’s needs is a source of serious challenge for parents and professionals alike. Indeed, identifying, prioritizing and agreeing upon the child’s needs are complex questions for which there are no clear and straightforward answers. The process of establishing a match between a student and a placement must explore several primary dimensions: child, setting, and instructor variables, treatment philosophy and strategies, assessment and evaluation, and family needs and involvement. Additionally, there is a great deal of complexity considering how to interpret, integrate and apply empirical research findings and prominent professional opinions to develop sound and practical solutions. Discussion and agreement about the importance of each of these factors and how they apply in a specific situation forms the foundation of an interactive dialogue between service providers and families to create a « best fit » between student and program.
4. Engel SM, Daniels JL. {{On the complex relationship between genes and environment in the etiology of autism}}. {Epidemiology};2011 (Jul);22(4):486-488.
5. Etherton MR, Tabuchi K, Sharma M, Ko J, Sudhof TC. {{An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus}}. {EMBO J};2011 (Jun 3)
Neuroligins are evolutionarily conserved postsynaptic cell-adhesion molecules that function, at least in part, by forming trans-synaptic complexes with presynaptic neurexins. Different neuroligin isoforms perform diverse functions and exhibit distinct intracellular localizations, but contain similar cytoplasmic sequences whose role remains largely unknown. Here, we analysed the effect of a single amino-acid substitution (R704C) that targets a conserved arginine residue in the cytoplasmic sequence of all neuroligins, and that was associated with autism in neuroligin-4. We introduced the R704C mutation into mouse neuroligin-3 by homologous recombination, and examined its effect on synapses in vitro and in vivo. Electrophysiological and morphological studies revealed that the neuroligin-3 R704C mutation did not significantly alter synapse formation, but dramatically impaired synapse function. Specifically, the R704C mutation caused a major and selective decrease in AMPA receptor-mediated synaptic transmission in pyramidal neurons of the hippocampus, without similarly changing NMDA or GABA receptor-mediated synaptic transmission, and without detectably altering presynaptic neurotransmitter release. Our results suggest that the cytoplasmic tail of neuroligin-3 has a central role in synaptic transmission by modulating the recruitment of AMPA receptors to postsynaptic sites at excitatory synapses.
6. Fountain C, Bearman P. {{Risk as Social Context: Immigration Policy and Autism in California}}. {Sociol Forum (Randolph N J)};2011 (Jun 1);26(2):215-240.
Motivated by the dramatic increase in autism diagnoses in recent years, research into risk factors has uncovered substantial variation in autism prevalence by race/ethnicity, SES, and geography. Less studied is the connection between autism diagnosis rates and the social and political context. In this article, we link the temporal pattern of autism diagnosis for Hispanic children in California to state and federal anti-immigrant policy, particularly ballot initiative Proposition 187, limiting access to public services for undocumented immigrants and their families. Using a population-level dataset of 1992-2003 California births linked to 1992-2006 autism case records, we show that the effects of state and federal policies toward immigrants are visible in the rise and fall of autism risk over time. The common epidemiological practice of estimating risk on pooled samples is thereby shown to obscure patterns and mis-estimate effect sizes. Finally, we illustrate how spatial variation in Hispanic autism rates reflects differential vulnerability to these policies. This study reveals not only the spillover effects of immigration policy on children’s health, but also the hazards of treating individual attributes like ethnicity as risk factors without regard to the social and political environments that give them salience.
7. Gallup GG, Jr., Hobbs DR. {{Evolutionary medicine: Bottle feeding, birth spacing, and autism}}. {Med Hypotheses};2011 (Jun 3)
To compensate for the high metabolic costs of lactation, the likelihood of re-impregnation shortly after childbirth is normally reduced due to hormonal changes triggered by breast feeding during the postpartum period. Nowadays, however, bottle feeding as a substitute for breast feeding precludes such changes and leads to early postpartum reinstatement of fertility. We suggest that recent data showing the risk of autism goes up dramatically as the time between pregnancies goes down [1] may be a byproduct of bottle feeding. The decision to bottle feed your last child may unwittingly put your next child at risk of being autistic.
8. Herguner S, Kelesoglu FM, Tanidir C, Copur M. {{Ferritin and iron levels in children with autistic disorder}}. {Eur J Pediatr};2011 (Jun 4)
Iron has an important role on cognitive, behavioral, and motor development. High prevalence of iron deficiency has been reported in autism. The aim of this study was to investigate iron status in a group of children with autistic disorder. The sample was composed of 116 children between 3 and 16 years with a diagnosis of autistic disorder according to DSM-IV criteria. Serum ferritin, iron, hemoglobin, hematocrit, mean corpuscular volume, and red cell distribution width values were measured. We found that 24.1% of subjects had iron deficiency, and 15.5% had anemia. There was a significant positive correlation between age and ferritin and hematological measures. Results of this study confirmed that iron deficiency and anemia are common in children with autistic disorder. Conclusion: These findings suggest that ferritin levels should be measured in subjects with autism as a part of routine investigation.
9. Jackson P, Skirrow P, Hare DJ. {{Asperger Through the Looking Glass: An Exploratory Study of Self-Understanding in People with Asperger’s Syndrome}}. {J Autism Dev Disord};2011 (Jun 7)
Hobson (Autism and the development of mind. Lawrence Erlbaum, Hove, UK 1993) has proposed that the cognitive and linguistic disabilities that characterise autism result from abnormalities in inter-subjective engagement during infancy, which in turn results in impaired reflective self-awareness. The aim of the present study was to test Hobson’s hypothesis by examining self-understanding in Asperger’s syndrome (AS) using Damon and Hart’s (Self-understanding in childhood and adolescence. Cambridge University Press, Cambridge, 1988) model of self-concept. Ten participants with Asperger’s syndrome were compared with ten non AS controls using the Self-understanding Interview (Damon and Hart in Self-understanding in Childhood and Adolescence. Cambridge University Press, Cambridge, 1988). The study found that the Asperger’s group demonstrated impairment in the « self-as-object » and « self-as-subject » domains of the Self-understanding Interview, which supported Hobson’s concept of an impaired capacity for self-awareness and self-reflection in people with ASD. The results are discussed with reference to previous research regarding the development of self-understanding in people with ASD.
10. Kim NH, Hoyek GE, Chau D. {{Long-term care of the aging population with intellectual and developmental disabilities}}. {Clin Geriatr Med};2011 (May);27(2):291-300.
The aging population with intellectual and developmental disabilities (I/DD) deserves appropriate health care and social support. This population poses unique medical and social challenges to the multidisciplinary team that provides care. In the past, long-term care (LTC) facilities played an essential role in the livelihood of this population. The likelihood that the geriatric LTC system must prepare for adequately caring for this population is high. This article conveys the need to prepare for the inclusion of the growing aging population with I/DD into long-term care with the general elderly population in the near future.
11. Konopka G, Wexler E, Rosen E, Mukamel Z, Osborn GE, Chen L, Lu D, Gao F, Gao K, Lowe JK, Geschwind DH. {{Modeling the functional genomics of autism using human neurons}}. {Mol Psychiatry};2011 (Jun 7)
Human neural progenitors from a variety of sources present new opportunities to model aspects of human neuropsychiatric disease in vitro. Such in vitro models provide the advantages of a human genetic background combined with rapid and easy manipulation, making them highly useful adjuncts to animal models. Here, we examined whether a human neuronal culture system could be utilized to assess the transcriptional program involved in human neural differentiation and to model some of the molecular features of a neurodevelopmental disorder, such as autism. Primary normal human neuronal progenitors (NHNPs) were differentiated into a post-mitotic neuronal state through addition of specific growth factors and whole-genome gene expression was examined throughout a time course of neuronal differentiation. After 4 weeks of differentiation, a significant number of genes associated with autism spectrum disorders (ASDs) are either induced or repressed. This includes the ASD susceptibility gene neurexin 1, which showed a distinct pattern from neurexin 3 in vitro, and which we validated in vivo in fetal human brain. Using weighted gene co-expression network analysis, we visualized the network structure of transcriptional regulation, demonstrating via this unbiased analysis that a significant number of ASD candidate genes are coordinately regulated during the differentiation process. As NHNPs are genetically tractable and manipulable, they can be used to study both the effects of mutations in multiple ASD candidate genes on neuronal differentiation and gene expression in combination with the effects of potential therapeutic molecules. These data also provide a step towards better understanding of the signaling pathways disrupted in ASD.Molecular Psychiatry advance online publication, 7 June 2011; doi:10.1038/mp.2011.60.
12. Larson SA, Lakin KC, Salmi P, Smith D, Scott N, Webster A. {{Children and youth with intellectual or developmental disabilities living in congregate care settings (1977 to 2009): healthy people 2010 objective 6.7b outcomes (revised)}}. {Intellect Dev Disabil};2011 (Jun);49(3):209-213.
13. Lit L, Sharp FR, Bertoglio K, Stamova B, Ander BP, Sossong AD, Hendren RL. {{Gene expression in blood is associated with risperidone response in children with autism spectrum disorders}}. {Pharmacogenomics J};2011 (Jun 7)
Children with autism spectrum disorders (ASDs) often have severe behavioral problems. Not all children with these problems respond to atypical antipsychotic medications; therefore, we investigated whether peripheral blood gene expression before treatment with risperidone, an atypical antipsychotic, was associated with improvements in severe behavioral disturbances 8 weeks following risperidone treatment in 42 ASD subjects (age 112.7+/-51.2 months). Exon expression levels in blood before risperidone treatment were compared with pre-post risperidone change in Aberrant Behavior Checklist-Irritability (ABC-I) scores. Expression of exons within five genes was correlated with change in ABC-I scores across all risperidone-treated subjects: GBP6, RABL5, RNF213, NFKBID and RNF40 (alpha<0.001). RNF40 is located at 16p11.2, a region implicated in autism and schizophrenia. Thus, these genes expressed before treatment were associated with subsequent clinical response. Future studies will be needed to confirm these results and determine whether this expression profile is associated with risperidone response in other disorders, or alternative antipsychotic response within ASD.The Pharmacogenomics Journal advance online publication, 7 June 2011; doi:10.1038/tpj.2011.23.
14. Sato S, Hayashi T, Kobayashi E. {{Characterization of porcine autism susceptibility candidate 2 as a candidate gene for the number of corpora lutea in pigs}}. {Anim Reprod Sci};2011 (May 14)
In a previous study, we mapped two quantitative trait loci (QTL) approximately 50cM apart, both influencing the number of corpora lutea in pigs on chromosome 3. One locus included functional candidate genes for proteins related to specific aspects of fertility, such as the follicle-stimulating hormone receptor and the luteinizing hormone/choriogonadotropin receptor. However, specific genes related to the second locus have not yet been identified. This study aims to identify another candidate gene influencing the number of corpora lutea in pigs. Using 12 polymorphic markers, we fine-mapped a narrow region of pig chromosome 3 that had been shown to contain a QTL for corpora lutea. In the critical region, only 1 gene, autism susceptibility candidate 2 (AUTS2), was identified as a positional candidate. Our results demonstrate that the porcine AUTS2 gene consists of 19 exons with a complete open reading frame of 3768bp encoding an AUTS2 protein of 1256 amino acids. We screened the whole coding sequence and parts of the untranslated region for polymorphisms in an F(2) population of DurocxMeishan crosses. We found 1 ins/del and 7 single nucleotide polymorphisms (SNP), including 2 nonsynonymous variants, c.943C>T in exon 7 and c.2828C>T in exon 19, resulting in P315S and A943V, respectively. The SNP c.943C>T within a proline-rich domain was genotyped in several breeds; the C allele occurred in all breeds, whereas the T allele occurred only in Meishan pigs. Using in situ hybridization, the mRNA expression of the AUTS2 gene was observed on granulosa cells in the porcine ovary and thus may be associated with hormone sensitivity.
15. Stoltenberg C. {{Autism spectrum disorders: is anything left for the environment?}}. {Epidemiology};2011 (Jul);22(4):489-490.
