1. Bultas MW. {{The health care experiences of the preschool child with autism}}. {J Pediatr Nurs}. 2012; 27(5): 460-70.
It is known that children with autism spectrum disorder (ASD) visit health care providers (HCPs) more frequently than typically developing peers, and mothers experience barriers in this process. The purpose of this interpretive phenomenological study was to gain a better understanding of a mother’s experiences of taking her child with ASD to the HCP. Two themes related to the health care experience of the child surfaced from the study. These themes included feelings that HCPs do not « get » the complexity of caring for the child and marginalization of mothers by the HCP. The need for creation of child-specific profiles emerged from this study.
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2. Casas-Delucchi CS, Becker A, Bolius JJ, Cardoso MC. {{Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization}}. {Nucleic Acids Res}. 2012.
Heterochromatic regions represent a significant portion of the mammalian genome and have been implied in several important cellular processes, including cell division and genomic stability. However, its composition and dynamics remain largely unknown. To better understand how heterochromatin functions and how it is organized within the context of the cell nucleus, we have developed molecular tools allowing the targeting of virtually any nuclear factor specifically to heterochromatic regions and, thereby, the manipulation, also in a temporally controlled manner, of its composition. To validate our approach, we have ectopically targeted MeCP2 chromatin binding deficient Rett mutants to constitutive heterochromatic regions and analyze its functional consequences. We could show that, once bound to their endogenous target regions, their ability to re-organize higher order chromatin structure is restored. Furthermore, a temporally controlled targeting strategy allowed us to monitor MeCP2-mediated chromatin rearrangements in vivo and to visualize large-scale chromatin movements over several micrometers, as well as heterochromatic foci fusion events. This novel strategy enables specific tethering of any protein to heterochromatin and lays the ground for controlled manipulation of its composition and organization.
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3. Deogracias R, Yazdani M, Dekkers MP, Guy J, Ionescu MC, Vogt KE, Barde YA. {{Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome}}. {Proc Natl Acad Sci U S A}. 2012; 109(35): 14230-5.
The functional relevance of brain-derived neurotrophic factor (BDNF) is beginning to be well appreciated not only in mice, but also in humans. Because reduced levels typically correlate with impaired neuronal function, increasing BDNF levels with well-tolerated drugs diffusing into the central nervous system may help in ameliorating functional deficits. With this objective in mind, we used the sphingosine-1 phosphate receptor agonist fingolimod, a drug that crosses the blood-brain barrier. In addition, fingolimod has recently been introduced as the first oral treatment for multiple sclerosis. In cultured neurons, fingolimod increases BDNF levels and counteracts NMDA-induced neuronal death in a BDNF-dependent manner. Ongoing synaptic activity and MAPK signaling is required for fingolimod-induced BDNF increase, a pathway that can also be activated in vivo by systemic fingolimod administration. Mice lacking Mecp2, a gene frequently mutated in Rett syndrome, show decreased levels of BDNF, and fingolimod administration was found to partially rescue these levels as well as the size of the striatum, a volumetric sensor of BDNF signaling in rodents. These changes correlate with increased locomotor activity of the Mecp2-deficient animals, suggesting that fingolimod may improve the functional output of the nervous system, in addition to its well-documented effects on lymphocyte egress from lymph nodes.
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4. Donohue SE, Darling EF, Mitroff SR. {{Links between multisensory processing and autism}}. {Exp Brain Res}. 2012.
Autism spectrum disorder is typically associated with social deficits and is often specifically linked to difficulty with processing faces and other socially relevant stimuli. Emerging research has suggested that children with autism might also have deficits in basic perceptual abilities including multisensory processing (e.g., simultaneously processing visual and auditory inputs). The current study examined the relationship between multisensory temporal processing (assessed via a simultaneity judgment task wherein participants were to report whether a visual stimulus and an auditory stimulus occurred at the same time or at different times) and self-reported symptoms of autism (assessed via the Autism Spectrum Quotient questionnaire). Data from over 100 healthy adults revealed a relationship between these two factors as multisensory timing perception correlated with symptoms of autism. Specifically, a stronger bias to perceive auditory stimuli occurring before visual stimuli as simultaneous was associated with greater levels of autistic symptoms. Additional data and analyses confirm that this relationship is specific to multisensory processing and symptoms of autism. These results provide insight into the nature of multisensory processing while also revealing a continuum over which perceptual abilities correlate with symptoms of autism and that this continuum is not just specific to clinical populations but is present within the general population.
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5. Durand-Zaleski I, Scott J, Rouillon F, Leboyer M. {{A first national survey of knowledge, attitudes and behaviours towards schizophrenia, bipolar disorders and autism in France}}. {BMC Psychiatry}. 2012; 12(1): 128.
ABSTRACT: BACKGROUND: In order to support evidence-based policies for reduction of stigma, a better understanding of its components: ignorance (knowledge), prejudice (attitude) and discrimination (behaviour) is necessary. This study explores public perceptions and quantifies stigma for three chronic mental disorders: autism, schizophrenia and bipolar disorders in France. METHODS: Survey of 1000 adults selected from an established market research panel. The 21-item questionnaire explored knowledge, attitudes and behaviours toward each disorder. RESULTS: Although 95% respondents recognized the names of each disorder fewer than 70% could report specific characteristics and only 33% considered that publically available information was adequate; most respondents identified the media as their main resource. Labeling of conditions in a negative way was frequent (61%) when referring to mental disorders in general, but fell significantly (18%) when linked to an individual with a disorder. Individuals with schizophrenia are assumed to be dangerous; 65% respondents would engage in social distancing from such an individual, versus 29% for bipolar disorders and 7% for autism (p < 0.001). In contrast to other disorders, discrimination against schizophrenia was only partly attenuated in those with familiarity with mental disorders (through personal or family illness). CONCLUSION: This first population-based survey in France shows that attitudes towards bipolar disorders and autism are less prejudicial than towards schizophrenia. However, most public attitudes and behaviours towards different disorders appear to be based on assumptions rather than knowledge or evidence suggesting a generic information or anti-stigma programme is unlikely to be effective.
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6. Gallese V, Rochat MJ, Berchio C. {{The mirror mechanism and its potential role in autism spectrum disorder}}. {Dev Med Child Neurol}. 2012.
The mirror mechanism allows the direct translation of a perceived (seen, felt, heard) action into the same motor representation of its related goal. This mechanism allows a direct comprehension of others’ goals and motor intentions, enabling an embodied link between individuals. Because the mirror mechanism is a functional expression of the motor system, these findings suggest the relevance of the motor system to social cognition. It has been hypothesized that the impaired understanding of others’ intentions, sensations, and emotions reported in autism spectrum disorder (ASD) could be linked to an alteration of the mirror mechanism in all of these domains. In this review, we address the theoretical issues underlying the social impairments in ASD and discuss them in relation to the cognitive role of the mirror mechanism.
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7. May RJ, Hawkins E, Dymond S. {{Brief Report: Effects of Tact Training on Emergent Intraverbal Vocal Responses in Adolescents with Autism}}. {J Autism Dev Disord}. 2012.
The present study evaluated the emergence of intraverbal responses following tact training with three adolescents diagnosed with autism spectrum disorders. Participants were taught to tact the name of a cartoon character (e.g., « What is the name of this monster? » [« Simon »]) and that character’s preferred food (e.g., « What food does this monster eat? » [« Chips »]). Following tact training, test probes revealed the emergence of untrained vocal intraverbals. Specifically, in the absence of pictures, participants stated the name of the character when given the food preference (e.g., « Which monster eats chips? »), and stated the food when given the character name (e.g., « What food does Simon eat? »). The findings are discussed with reference to the growing literature on verbal behavior and derived relational responding.
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8. Schrieken M, Visser J, Oosterling I, van Steijn D, Bons D, Draaisma J, van der Gaag RJ, Buitelaar J, Donders R, Rommelse N. {{Head circumference and height abnormalities in autism revisited: the role of pre- and perinatal risk factors}}. {Eur Child Adolesc Psychiatry}. 2012.
Pre/perinatal risk factors and body growth abnormalities have been studied frequently as early risk markers in autism spectrum disorder (ASD), yet their interrelatedness in ASD has received very little research attention. This is surprising, given that pre/perinatal risk factors can have a substantial impact on growth trajectories in the first years of life. We aimed to determine which pre/perinatal factors were more prevalent in ASD children and if these factors differentially influenced body growth in ASD and control children. A total of 96 ASD and 163 control children matched for gender participated. Data of growth of head size and body length during the first 13 months of life were collected. Data on pre/perinatal risk factors were retrospectively collected through standardized questionnaires. Results indicated that after matching for SES, prematurity/low birth weight and being first born were more prevalent in the ASD versus the control group. In addition, with increasing age children with ASD tended to have a proportionally smaller head circumference compared to their height. However, the effect of prematurity/low birth weight on head growth corrected for height was significantly different in ASD and control children: premature/low birth weight control children showed a disproportionate larger head circumference in relation to height during their first year of life, whereas this effect was absent in premature/low birth weight ASD children. This may suggest that the etiology of abnormal growth is potentially different in ASD and control children: where abnormal growth in control children is related to suboptimal conditions in the uterus, abnormal growth in ASD may be more strongly related to the causal factors that also increase the risk for ASD. However, prospective studies measuring growth and ASD characteristics in both premature/low birth weight and a terme children are necessary to support this conclusion.
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9. Seneca S, Lissens W, Endels K, Caljon B, Bonduelle M, Keymolen K, Rademaeker MD, Ullmann U, Haentjens P, Berkel KV, Dooren SV. {{Reliable and Sensitive Detection of Fragile X (Expanded) Alleles in Clinical Prenatal DNA Samples with a Fast Turnaround Time}}. {J Mol Diagn}. 2012.
This study evaluated a large set of blinded, previously analyzed prenatal DNA samples with a novel, CGG triplet-repeat primed (TP)-PCR assay (Amplidex FMR1 PCR Kit; Asuragen, Austin, TX). This cohort of 67 fetal DNAs contained 18 full mutations (270 to 1100 repeats, including 1 mosaic), 12 premutations (59 to 150 repeats), 9 intermediate mutations (54 to 58 repeats), and 28 normal samples (17 to 50 repeats, including 3 homozygous female samples). TP-PCR accurately identified FMR1 genotypes, ranging from normal to full- mutation alleles, with a 100% specificity (95% CI, 85.0% to 100%) and a 97.4% sensitivity (95% CI, 84.9% to 99.9%) in comparison with Southern blot analysis results. Exact sizing was possible for a spectrum of normal, intermediate, and premutation (up to 150 repeats) alleles, but CGG repeat numbers >200 are only identified as full mutations. All homozygous alleles were correctly resolved. The assay is also able to reproducibly detect a 2.5% premutation and a 3% full-mutation mosaicism in a normal male background, but a large premutation in a full male mutation background was masked when the amount of the latter was >5%. Implementation of this TP-PCR will significantly reduce reflex testing using Southern blot analyses. Additional testing with methylation-informative techniques might still be needed for a few cases with (large) premutations or full mutations.
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10. Smith RS, Sharp J. {{Fascination and Isolation: A Grounded Theory Exploration of Unusual Sensory Experiences in Adults with Asperger Syndrome}}. {J Autism Dev Disord}. 2012.
Unusual sensory experiences are commonly seen in people with Asperger syndrome (AS). They correlate with functional impairments and cause distress. The current study investigates how these experiences have affected nine adults with AS’s lives, as well as the coping strategies utilised. Semi-structured interviews were conducted using Instant Messaging software. Data were analysed using Grounded Theory. A number of inter-related categories and focused codes were identified. The categories included heightened senses, sensory stress, the stress avalanche, moderating factors, coping strategies, other people, self-acceptance, fascination, and isolation. A model was constructed as to how these categories and codes interact. How these findings link with previous research into autism spectrum disorders is discussed. Implications for services and future research are also made.
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11. Stewart BA, Klar AJ. {{Can Bronchoscopic Airway Anatomy Be an Indicator of Autism?}}. {J Autism Dev Disord}. 2012.
Bronchoscopic evaluations revealed that some children have double branching of bronchi (designated « doublets ») in the lower lungs airways, rather than normal, single branching. Retrospective analyses revealed only one commonality in them: all subjects with doublets also had autism or autism spectrum disorder (ASD). That is, 49 subjects exhibited the presence of initial normal anatomy in upper airway followed by doublets in the lower airway. In contrast, the normal branching pattern was noted in all the remaining 410 subjects who did not have a diagnosis of autism/ASD. We propose that the presence of doublets might be an objective, reliable, and valid biologic marker of autism/ASD.
