1. Alt M, Moreno MH. {{The effect of test presentation on children with Autism Spectrum Disorder and neurotypical peers}}. {Language, speech, and hearing services in schools}. 2012 Jan 9.
PURPOSE: The purpose of this experiment was to determine if there would be alternate form reliability for paper- and computer-administered standardized vocabulary tests. Additionally, we hypothesized that children with Autism Spectrum Disorders (ASDs) would have improved behavioral ratings during the computer-administered testing sessions secondary to a decreased need for social interaction. METHOD: Thirty-six school-aged children (half with ASDs, half neurotypical (NT)) took two versions (i.e., paper vs. computer) of the Expressive One Word Picture Vocabulary Test (EOWPVT-2000) (Brownell, 2000a) and the Receptive One Word Picture Vocabulary Test (ROWPVT-2000) (Brownell, 2000b). Order of presentation was counter-balanced across participants. Test sessions were videotaped, and randomly selected 1-minute intervals were rated for behaviors. Standardized test scores and behavior ratings were compared for equivalence across test presentation methods. RESULTS: Standard scores for both versions of the tests were not significantly different for both groups of participants. There were no differences in behavioral ratings across method of test administration. CONCLUSIONS: We found alternate form reliability, thus expanding the options for testing for school-aged populations. The use of computers had no effect on behaviors for a group of children with ASDs. The ramifications of this finding for assessment and intervention for children with ASDs are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
2. Brown KF, Long SJ, Ramsay M, Hudson MJ, Green J, Vincent CA, Kroll JS, Fraser G, Sevdalis N. {{UK parents’ decision-making about measles-mumps-rubella (MMR) vaccine 10 years after the MMR-autism controversy: A qualitative analysis}}. {Vaccine}. 2012 Jan 6.
BACKGROUND AND OBJECTIVES: Public concern about an unsubstantiated link between MMR vaccine and autism stemmed from a 1998 paper by Dr Andrew Wakefield and colleagues, and the substantial media coverage which that work attracted. Though the Wakefield paper is now discredited and an MMR-autism link has never been demonstrated empirically, this concern has manifested in over a decade of suboptimal MMR uptake. Few qualitative studies have explored parents’ MMR decision-making since uptake began to improve in 2004. This study updates and adds methodological rigour to the evidence base. METHODS: 24 mothers planning to accept, postpone or decline the first MMR dose (MMR1) for their 11-36 month-old children, described their decision-making in semi-structured interviews. Mothers were recruited via General Practice, parents’ groups/online forums, and chain referral. MMR1 status was obtained from General Practice records 6 months post-interview. Interview transcripts were coded and interpreted using a modified Grounded Theory approach. RESULTS: Five themes were identified: MMR vaccine and controversy; Social and personal consequences of MMR decision; Health professionals and policy; Severity and prevalence of measles, mumps and rubella infections; Information about MMR and alternatives. Results indicated that MMR1 acceptors were sympathetic toward Wakefield as a person, but universally rejected his study which sparked the controversy; parents opting for single vaccines expressed the sense that immune overload is not a consideration but that not all three components of MMR are warranted by disease severity; and MMR1 rejectors openly criticised other parents’ MMR decisions and decision-making. CONCLUSIONS: This study corroborated some previous qualitative work but indicated that the shrinking group of parents now rejecting MMR comprises mainly those with more extreme and complex anti-immunisation views, whilst parents opting for single vaccines may use second-hand information about the controversy. In response, policymakers and practitioners should revise their expectations of today’s MMR decision-makers, and their methods for supporting them.
Lien vers le texte intégral (Open Access ou abonnement)
3. Farra N, Zhang WB, Pasceri P, Eubanks JH, Salter MW, Ellis J. {{Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations}}. {Molecular psychiatry}. 2012 Jan 10.
Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Here, we describe the first characterization and neuronal differentiation of induced pluripotent stem (iPS) cells derived from Mecp2-deficient mice. Fully reprogrammed wild-type (WT) and heterozygous female iPS cells express endogenous pluripotency markers, reactivate the X-chromosome and differentiate into the three germ layers. We directed iPS cells to produce glutamatergic neurons, which generated action potentials and formed functional excitatory synapses. iPS cell-derived neurons from heterozygous Mecp2(308) mice showed defects in the generation of evoked action potentials and glutamatergic synaptic transmission, as previously reported in brain slices. Further, we examined electrophysiology features not yet studied with the RTT iPS cell system and discovered that MeCP2-deficient neurons fired fewer action potentials, and displayed decreased action potential amplitude, diminished peak inward currents and higher input resistance relative to WT iPS-derived neurons. Deficiencies in action potential firing and inward currents suggest that disturbed Na(+) channel function may contribute to the dysfunctional RTT neuronal network. These phenotypes were additionally confirmed in neurons derived from independent WT and hemizygous mutant iPS cell lines, indicating that these reproducible deficits are attributable to MeCP2 deficiency. Taken together, these results demonstrate that neuronally differentiated MeCP2-deficient iPS cells recapitulate deficits observed previously in primary neurons, and these identified phenotypes further illustrate the requirement of MeCP2 in neuronal development and/or in the maintenance of normal function. By validating the use of iPS cells to delineate mechanisms underlying RTT pathogenesis, we identify deficiencies that can be targeted for in vitro translational screens.Molecular Psychiatry advance online publication, 10 January 2012; doi:10.1038/mp.2011.180.
Lien vers le texte intégral (Open Access ou abonnement)
4. Frye RE, Sequeira JM, Quadros EV, James SJ, Rossignol DA. {{Cerebral folate receptor autoantibodies in autism spectrum disorder}}. {Molecular psychiatry}. 2012 Jan 10.
Cerebral folate deficiency (CFD) syndrome is a neurodevelopmental disorder typically caused by folate receptor autoantibodies (FRAs) that interfere with folate transport across the blood-brain barrier. Autism spectrum disorders (ASDs) and improvements in ASD symptoms with leucovorin (folinic acid) treatment have been reported in some children with CFD. In children with ASD, the prevalence of FRAs and the response to leucovorin in FRA-positive children has not been systematically investigated. In this study, serum FRA concentrations were measured in 93 children with ASD and a high prevalence (75.3%) of FRAs was found. In 16 children, the concentration of blocking FRA significantly correlated with cerebrospinal fluid 5-methyltetrahydrofolate concentrations, which were below the normative mean in every case. Children with FRAs were treated with oral leucovorin calcium (2 mg kg(-1) per day; maximum 50 mg per day). Treatment response was measured and compared with a wait-list control group. Compared with controls, significantly higher improvement ratings were observed in treated children over a mean period of 4 months in verbal communication, receptive and expressive language, attention and stereotypical behavior. Approximately one-third of treated children demonstrated moderate to much improvement. The incidence of adverse effects was low. This study suggests that FRAs may be important in ASD and that FRA-positive children with ASD may benefit from leucovorin calcium treatment. Given these results, empirical treatment with leucovorin calcium may be a reasonable and non-invasive approach in FRA-positive children with ASD. Additional studies of folate receptor autoimmunity and leucovorin calcium treatment in children with ASD are warranted.Molecular Psychiatry advance online publication, 10 January 2012; doi:10.1038/mp.2011.175.
Lien vers le texte intégral (Open Access ou abonnement)
5. Furman LM. {{Book/Media review: a clinical guide to autistic spectrum disorders}}. {Journal of child neurology}. 2012 Jan;27(1):132-3.
Lien vers le texte intégral (Open Access ou abonnement)
6. Ho JD, Nystrom PC, Calvo DV, Berris MS, Norlin JF, Clinton JE. {{Prehospital Chemical Restraint of a Noncommunicative Autistic Minor by Law Enforcement}}. {Prehospital emergency care : official journal of the National Association of EMS Physicians and the National Association of State EMS Directors}. 2012 Jan 11.
Abstract When responders are dealing with an agitated patient in the field, safety for all involved may sometimes only be accomplished with physical or chemical restraints. While experiences using chemical restraint in the prehospital setting are found in the medical literature, the use of this by law enforcement as a first-response restraint has not previously been described. We report a case of successful law enforcement-administered sedation of a noncommunicative, autistic, and violent minor using intramuscular droperidol and diphenhydramine. Although this case has some unique characteristics that allowed chemical restraint to be given by the law enforcement agency, it calls attention to some specific prehospital issues that need to be addressed when dealing with autistic patients with extreme agitation.
Lien vers le texte intégral (Open Access ou abonnement)
7. Holton A, Weberling B, Clarke CE, Smith MJ. {{The Blame Frame: Media Attribution of Culpability About the MMR-Autism Vaccination Scare}}. {Health communication}. 2012 Jan 11.
Scholars have examined how news media frame events, including responsibility for causing and fixing problems, and how these frames inform public judgment. This study analyzed 281 newspaper articles about a controversial medical study linking the measles, mumps, and rubella (MMR) vaccination with autism. Given criticism of the study and its potential negative impact on vaccination rates across multiple countries, the current study examined actors to whom news media attributed blame for the MMR-vaccine association, sources used to support those attributions, and what solutions (e.g., mobilizing information), if any, were offered. This study provides unique insight by examining the evolution of these attributions over the lifetime of the controversy. Findings emphasize how news media may attribute blame in health risk communication and how that ascription plays a potentially vital role in shaping public behavior. Theoretical and practical implications are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
8. Kover ST, McDuffie A, Abbeduto L, Brown WT. {{Effects of Sampling Context on Spontaneous Expressive Language in Males with Fragile X Syndrome or Down Syndrome}}. {J Speech Lang Hear Res}. 2012 Jan 9.
PURPOSE: This study examined the impact of sampling context on multiple aspects of expressive language in males with fragile X syndrome in comparison to males with Down syndrome or typical development. METHOD: Participants with fragile X syndrome (n = 27), ages 10 to 17 years, were matched groupwise on nonverbal mental age to adolescents with Down syndrome (n = 15) and typically developing 3- to 6-year-olds (n = 15). Language sampling contexts were an interview-style conversation and narration of a wordless book, with scripted examiner behavior. Language was assessed in terms of amount of talk, MLU of communication unit (MLCU), lexical diversity, fluency, and intelligibility. RESULTS: Participants with fragile X syndrome had lower MLCU and lexical diversity than participants with typical development. Participants with Down syndrome produced yet lower MLCU. A differential effect of context among those with fragile X syndrome, Down syndrome, and typical development emerged for the number of attempts per minute, MLCU, and fluency. For participants with fragile X syndrome, autism symptom severity related to the number of utterances produced in conversation. Aspects of examiner behavior related to participant performance. CONCLUSIONS: Sampling context characteristics should be considered when assessing expressive language in individuals with neurodevelopmental disabilities.
Lien vers le texte intégral (Open Access ou abonnement)
9. Lai DC, Tseng YC, Hou YM, Guo HR. {{Gender and geographic differences in the prevalence of autism spectrum disorders in children: Analysis of data from the national disability registry of Taiwan}}. {Res Dev Disabil}. 2012 Jan 11;33(3):909-15.
The prevalence of autism spectrum disorders (ASD) in the world has increased dramatically in the recent decades. However, data at the national level are limited, and geographic differences are seldom evaluated. According to the law, the local governments in Taiwan began to certify disabled residents and provide various services in 1980, and the central government maintains a registry of certified cases. The registry started to enroll cases of ASD in 1990, providing a unique opportunity for studying ASD at the national level. Because the government discourages the certification under 3 years of age, we limited our analyses to those who were at least 3 years old. Using the registry data from 2004 to 2010, we calculated the prevalence of ASD by age, gender, and geographic area and assessed the changes over time. From 2004 to 2010, the registered cases between 3 and 17 years old increased from 3995 to 8072 annually, and the prevalence generally increased every year in all age groups (p<0.01). In each year there were more boy cases than girl cases, and the prevalence rate ratio ranged from 5.64:1 to 6.06:1 (p<0.01 in all years), with an increasing trend over time (p<0.01). A higher prevalence was observed in the urban areas over the years, and the prevalence rate ratio ranged from 2.24:1 to 2.72:1 (p<0.01 in all years), with a decreasing trend over time (p<0.01).
Lien vers le texte intégral (Open Access ou abonnement)
10. Mercier F, Kwon YC, Douet V. {{Hippocampus/amygdala alterations, loss of heparan sulfates, fractones and ventricle wall reduction in adult BTBR T+ tf/J mice, animal model for autism}}. {Neuroscience letters}. 2012 Jan 11;506(2):208-13.
Multiple studies converge to implicate alterations of the hippocampus and amygdala in the pathology of autism. We have previously reported anatomical alterations of the meninges, vasculature and fractones, the specialized extracellular matrix (ECM) of the subventricular zone, in the forebrain of adult BTBR T+ tf/J mice, animal model for autism. Here, we used bisbenzidine cell nucleus staining and dual immunofluorescence histochemistry for laminin and N-sulfated heparan sulfate proteoglycans (NS-HSPG) to examine a series of brain sections containing the amygdala and hippocampus in the adult BTBR T+ tf/j mouse. We observed an excessive separation of the two hippocampi, a modified trajectory of the meninges leading to a shrunken choroid plexus in the lateral ventricle, a shorter granular layer of the dentate gyrus, and a reduced size of the amygdala nuclei. The lateral ventricle near the amygdala, and the third ventricle were shrunken. The number and size of fractones, and their immunoreactivity for NS-HSPG, were reduced throughout the third and lateral ventricles walls. Enlarged blood vessels were found at the endopiriform cortex/amygdala interface. These results show anatomical alterations of the hippocampal/amygdala that are associated with defects of the choroid plexus/ventricular system and the ECM in the BTBR T+ TF/J mouse. Similar alterations of the hippocampus/amygdala axis in humans with autism to these observed in BTBR T+ tf/J mice make this animal model highly valuable for the study of autism. Moreover, the meningo/vascular and ECM alterations in BTBR T+ Tf/J mice suggest a possible role of the brain connective tissue in autism.
Lien vers le texte intégral (Open Access ou abonnement)
11. Peretz B, Spierer A, Spierer S, Rakocz M. {{Dental treatment of patients with systemic diseases compared to patients with developmental disabilities under general anesthesia}}. {Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry}. 2012 Jan;32(1):21-5.
The medical and dental records were examined for 46 patients with systemic diseases (SD) and 75 patients with developmental disabilities (DD) aged 2-20 years, who had received dental treatment under general anesthesia (GA). Age, gender, decayed missing and filled teeth (dmft/DMFT), dental procedures, duration of GA, and posttreatment hospitalization were recorded. Before treatment, dental disease in the primary teeth was significantly higher among the group with SD (p= 0.04). In the permanent teeth, dental disease was higher among the group with DD, though not significantly. More teeth were restored, (p= 0.015) and total dmft (p= 0.043) was significantly higher among subjects with SD. In the permanent teeth, more extracted and more restored teeth and higher DMFT were noted among subjects with DD, though not significantly. Only pulpectomies were significantly more prevalent among those with DD (p= 0.038). Six subjects needed hospitalization due to their diseases after GA.
Lien vers le texte intégral (Open Access ou abonnement)
12. Rahbar MH, Samms-Vaughan M, Loveland KA, Pearson DA, Bressler J, Chen Z, Ardjomand-Hessabi M, Shakespeare-Pellington S, Grove ML, Beecher C, Bloom K, Boerwinkle E. {{Maternal and Paternal Age are Jointly Associated with Childhood Autism in Jamaica}}. {J Autism Dev Disord}. 2012 Jan 10.
Several studies have reported maternal and paternal age as risk factors for having a child with Autism Spectrum Disorder (ASD), yet the results remain inconsistent. We used data for 68 age- and sex-matched case-control pairs collected from Jamaica. Using Multivariate General Linear Models (MGLM) and controlling for parity, gestational age, and parental education, we found a significant (p < 0.0001) joint effect of parental ages on having children with ASD indicating an adjusted mean paternal age difference between cases and controls of [5.9 years; 95% CI (2.6, 9.1)] and a difference for maternal age of [6.5 years; 95% CI (4.0, 8.9)]. To avoid multicollinearity in logistic regression, we recommend joint modeling of parental ages as a vector of outcome variables using MGLM.
Lien vers le texte intégral (Open Access ou abonnement)
13. Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C. {{Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother}}. {European journal of human genetics : EJHG}. 2012 Jan 11.
The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5-30.1 Mb) are associated with autism, intellectual disability (ID) and other neurodevelopmental disorders. Another recognizable but less common microdeletion syndrome in 16p11.2p12.2 (21.4 to 28.5-30.1 Mb) has been described in six individuals with ID, whereas apparently reciprocal duplications, studied by standard cytogenetic and fluorescence in situ hybridization techniques, have been reported in three patients with autism spectrum disorders. Here, we report a multiplex family with three boys affected with autism, including two monozygotic twins carrying a de novo 16p11.2p12.2 duplication of 8.95 Mb (21.28-30.23 Mb) characterized by single-nucleotide polymorphism array, encompassing both the 16p11.2 and 16p11.2p12.2 regions. The twins exhibited autism, severe ID, and dysmorphic features, including a triangular face, deep-set eyes, large and prominent nasal bridge, and tall, slender build. The eldest brother presented with autism, mild ID, early-onset obesity and normal craniofacial features, and carried a smaller, overlapping 16p11.2 microdeletion of 847 kb (28.40-29.25 Mb), inherited from his apparently healthy father. Recurrent deletions in this region encompassing the SH2B1 gene were recently reported in early-onset obesity and in individuals with neurodevelopmental disorders associated with phenotypic variability. We discuss the clinical and genetic implications of two different 16p chromosomal rearrangements in this family, and suggest that the 16p11.2 deletion in the father predisposed to the formation of the duplication in his twin children.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.244.
Lien vers le texte intégral (Open Access ou abonnement)
14. Wang J, Zhou X, Xia W, Sun CH, Wu LJ, Wang JL, Tomoda A. {{Parent-reported health care expenditures associated with autism spectrum disorders in Heilongjiang Province, China}}. {BMC health services research}. 2012 Jan 10;12(1):7.
ABSTRACT: BACKGROUND: The aim of this study was to determine the health expenses incurred by families with children with autism spectrum disorder (ASD) and those expenses relation to total household income and expenditures. METHODS: In this cross-sectional study, health care expenditure data were collected through face-to-face interviews. Expenses included annual costs for clinic visits, medication, behavioral therapy, transportation, and accommodations. Health care costs as a percentage of total household income and expenditures were also determined. The participants included 290 families with ASD children who were treated at the Children Development and Behavior Research Center, Harbin Medical University, China. RESULTS: Families with ASD children from urban and rural areas had higher per-capita household expenditures by 60.8% and 74.7%, respectively, compared with provincial statistics for 2007. Behavioral therapy accounted for the largest proportion of health expenses (54.3%) for ASD children. In 19.9% of urban and 38.2% of rural families, health care costs exceeded the total annual household income. Most families (89.3% of urban families; 88.1% of rural families) in that province reported a higher share of health care expenditures than the reported household average. CONCLUSION: For families with ASD children, the economic burden of health care is substantially higher than the provincial average.
