1. {{International Society for Autism Research news}}. {Autism Res};2011 (Dec);4(6):467.
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2. Abdallah MW, Grove J, Hougaard DM, Norgaard-Pedersen B, Ibrahimov F, Mortensen EL. {{Autism Spectrum Disorders and Maternal Serum alpha-Fetoprotein Levels During Pregnancy}}. {Can J Psychiatry};2011 (Dec);56(12):727-734.
Objective: Numerous studies have been trying to disentangle the complex pathophysiology of autism spectrum disorders (ASD). In our study, we explored the potential role of maternal serum (MS) alpha-fetoprotein (AFP) in the prediction and the pathophysiology of ASD. Methods: A total of 112 patients with ASD and 243 control subjects were included in a case-control study, using a historic birth cohort maintained at Statens Serum Institute. Measurements of MS-AFP were obtained from a multicentre screening program, whereas clinical data were obtained from nationwide registers. Association between MS-AFP and ASD status was analyzed using logistic regression models and nonparametric tests. Results: Crude, but not adjusted, estimates showed that MS-AFP levels were slightly, but significantly, higher in mothers of children with ASD, compared with their control subject counterparts. People with ASD had an odds ratio of 2.33, with 95% confidence intervals of 1.00 to 5.39, to have MS-AFP above 2.5 multiple of median. Excluding subjects with congenital malformation comorbidities did not alter the direction of our estimates (OR 2.60; 95% CI 1.04 to 6.51, P = 0.04). Conclusion: Biologic plausibility of its role in the pathophysiology of ASD makes AFP a good candidate for further larger-scale studies to confirm such an association and to determine whether this pattern is unique to ASD or related to other psychiatric disorders as well.
3. Adams JB, Audhya T, McDonough-Means S, Rubin RA, Quig D, Geis E, Gehn E, Loresto M, Mitchell J, Atwood S, Barnhouse S, Lee W. {{Effect of a vitamin/mineral supplement on children and adults with autism}}. {BMC Pediatr};2011 (Dec 12);11(1):111.
ABSTRACT: BACKGROUND: Vitamin/mineral supplements are among the most commonly used treatments for autism, but the research on their use for treating autism has been limited. METHOD: This study is a randomized, double-blind, placebo-controlled three month vitamin/mineral treatment study. The study involved 141 children and adults with autism, and pre and post symptoms of autism were assessed. None of the participants had taken a vitamin/mineral supplement in the two months prior to the start of the study. For a subset of the participants (53 children ages 5-16) pre and post measurements of nutritional and metabolic status were also conducted. RESULTS: The vitamin/mineral supplement was generally well-tolerated, and individually titrated to optimum benefit. Levels of many vitamins, minerals, and biomarkers improved/increased showing good compliance and absorption. Statistically significant improvements in metabolic status were many including: total sulfate (+17%, p=0.001), S-adenosylmethionine (SAM; +6%, p=0.003), reduced glutathione (+17%, p=0.0008), ratio of oxidized glutathione to reduced glutathione (GSSG:GSH; -27%, p=0.002), nitrotyrosine (-29%, p=0.004), ATP (+25%, p=0.000001), NADH (+28%, p=0.0002), and NADPH (+30%, p=0.001). Most of these metabolic biomarkers improved to normal or near-normal levels. The supplement group had significantly greater improvements than the placebo group on the Parental Global Impressions-Revised (PGI-R, Average Change, p=0.008), and on the subscores for Hyperactivity (p=0.003), Tantrumming (p=0.009), Overall (p=0.02), and Receptive Language (p=0.03). For the other three assessment tools the difference between treatment group and placebo group was not statistically significant. Regression analysis revealed that the degree of improvement on the Average Change of the PGI-R was strongly associated with several biomarkers (adj. R2 = 0.61, p<0.0005) with the initial levels of biotin and vitamin K being the most significant (p<0.05); both biotin and vitamin K are made by beneficial intestinal flora. CONCLUSIONS: Oral vitamin/mineral supplementation is beneficial in improving the nutritional and metabolic status of children with autism, including improvements in methylation, glutathione, oxidative stress, sulfation, ATP, NADH, and NADPH. The supplement group had significantly greater improvements than did the placebo group on the PGI-R Average Change. This suggests that a vitamin/mineral supplement is a reasonable adjunct therapy to consider for most children and adults with autism. Trial registration number NCT01225198.
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4. Atladottir HO, Schendel DE, Lauritsen MB, Henriksen TB, Parner ET. {{Patterns of Contact with Hospital for Children with an Autism Spectrum Disorder: A Danish Register-Based Study}}. {J Autism Dev Disord};2011 (Dec 10)
The aim of this study was to study patterns of contact with hospital for children with autism spectrum disorder (ASD) using Danish population based register data. We included all children born in Denmark from 1994 through 2002. We found that children diagnosed with ASD had an increased rate of contact with hospital, almost regardless of the cause for the hospital contact. Given the overall association between hospital contact for various causes and ASD observed in these data, hospital data should be used cautiously in future studies searching for associations between a specific disease and ASD. If the increased rate of hospital contact overall for children with ASD is not considered, then misleading over interpretations might be made of observed associations between specific diseases and ASD.
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5. Bailey AJ. {{Autism in adults}}. {Autism Res};2011 (Dec 9)
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6. De Filippis B, Fabbri A, Simone D, Canese R, Ricceri L, Malchiodi-Albedi F, Laviola G, Fiorentini C. {{Modulation of RhoGTPases Improves the Behavioral Phenotype and Reverses Astrocytic Deficits in a Mouse Model of Rett Syndrome}}. {Neuropsychopharmacology};2011 (Dec 7)
RhoGTPases are crucial molecules in neuronal plasticity and cognition, as confirmed by their role in non-syndromic mental retardation. Activation of brain RhoGTPases by the bacterial cytotoxic necrotizing factor 1 (CNF1) reshapes the actin cytoskeleton and enhances neurotransmission and synaptic plasticity in mouse brains. We evaluated the effects of a single CNF1 intracerebroventricular inoculation in a mouse model of Rett syndrome (RTT), a rare neurodevelopmental disorder and a genetic cause of mental retardation, for which no effective therapy is available. Fully symptomatic MeCP2-308 male mice were evaluated in a battery of tests specifically tailored to detect RTT-related impairments. At the end of behavioral testing, brain sections were immunohistochemically characterized. Magnetic resonance imaging and spectroscopy (MRS) were also applied to assess morphological and metabolic brain changes. The CNF1 administration markedly improved the behavioral phenotype of MeCP2-308 mice. CNF1 also dramatically reversed the evident signs of atrophy in astrocytes of mutant mice and restored wt-like levels of this cell population. A partial rescue of the overexpression of IL-6 cytokine was also observed in RTT brains. CNF1-induced brain metabolic changes detected by MRS analysis involved markers of glial integrity and bioenergetics, and point to improved mitochondria functionality in CNF1-treated mice. These results clearly indicate that modulation of brain RhoGTPases by CNF1 may constitute a totally innovative therapeutic approach for RTT and, possibly, for other disorders associated with mental retardation.Neuropsychopharmacology advance online publication, 7 December 2011; doi:10.1038/npp.2011.301.
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7. Dressler A, Perelli V, Bozza M, Bargagna S. {{The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone}}. {Funct Neurol};2011 (Jul-Sep);26(3):151-158.
The autistic phenotype in Down syndrome (DS) is marked by a characteristic pattern of stereotypies, anxiety and social withdrawal. Our aim was to study adaptive behaviour in DS with and without autistic comorbidity using the Vineland Adaptive Behaviour Scales (VABS), the Childhood Autism Rating Scales (CARS) and the DSM IV-TR criteria. We assessed 24 individuals and established three groups: Down syndrome (DS), DS and autistic disorder (DS-AD), and autistic disorder (AD). The DS and DS-AD groups showed statistically significantly similar strengths on the VABS (in receptive and domestic skills). The DS and DS-AD subjects also showed similar strengths on the CARS (in imitation and relating), differing significantly from the AD group. The profile of adaptive functioning and symptoms in DS-AD seemed to be more similar to that found in DS than to the profile emerging in AD. We suggest that the comorbidity of austistic symptoms in DS hampered the acquisition of adaptive skills more than did the presence of DS alone.
8. Farber JM. {{Autism, Cognition, and Parent Counseling-Part 2}}. {J Dev Behav Pediatr};2011 (Dec 8)
As the incidence of autism has risen, many neurodevelopmental pediatricians have been omitting a consideration of cognitive level in their evaluation of children, and in communicating with parents. This is a disservice to families, who should be given pertinent information, both in verbal and written forms, about their child and the prognosis. A template is presented for a letter that can be provided to parents, highlighting the basic information they need after a diagnosis has been made.
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9. Garrecht M, Austin DW. {{The plausibility of a role for mercury in the etiology of autism: a cellular perspective}}. {Toxicol Environ Chem};2011 (May);93(5-6):1251-1273.
Autism is defined by a behavioral set of stereotypic and repetitious behavioral patterns in combination with social and communication deficits. There is emerging evidence supporting the hypothesis that autism may result from a combination of genetic susceptibility and exposure to environmental toxins at critical moments in development. Mercury (Hg) is recognized as a ubiquitous environmental neurotoxin and there is mounting evidence linking it to neurodevelopmental disorders, including autism. Of course, the evidence is not derived from experimental trials with humans but rather from methods focusing on biomarkers of Hg damage, measurements of Hg exposure, epidemiological data, and animal studies. For ethical reasons, controlled Hg exposure in humans will never be conducted. Therefore, to properly evaluate the Hg-autism etiological hypothesis, it is essential to first establish the biological plausibility of the hypothesis. This review examines the plausibility of Hg as the primary etiological agent driving the cellular mechanisms by which Hg-induced neurotoxicity may result in the physiological attributes of autism. Key areas of focus include: (1) route and cellular mechanisms of Hg exposure in autism; (2) current research and examples of possible genetic variables that are linked to both Hg sensitivity and autism; (3) the role Hg may play as an environmental toxin fueling the oxidative stress found in autism; (4) role of mitochondrial dysfunction; and (5) possible role of Hg in abnormal neuroexcitory and excitotoxity that may play a role in the immune dysregulation found in autism. Future research directions that would assist in addressing the gaps in our knowledge are proposed.
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10. Ghanizadeh A. {{Acetaminophen may mediate oxidative stress and neurotoxicity in autism}}. {Med Hypotheses};2011 (Dec 8)
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11. Hall D, Tassone F, Klepitskaya O, Leehey M. {{Fragile X-Associated tremor ataxia syndrome in FMR1 gray zone allele carriers}}. {Mov Disord};2011 (Dec 11)
BACKGROUND: Carriers of fragile X mental retardation 1 (FMR1) repeat expansions in the premutation range (55-200 CGG repeats) often develop a syndrome of kinetic tremor, cerebellar ataxia, and parkinsonism; designated the fragile X-associated tremor ataxia syndrome (FXTAS). Neurological signs have not been reported in carriers of gray zone (45-54 CGG repeats) expansions. METHODS/RESULTS: We describe 3 patients with FMR1 gray zone alleles who meet diagnostic criteria for FXTAS. CONCLUSIONS: Our cases suggest that the definition of the FXTAS may need to be broadened to include individuals with FMR1 repeat expansions in the gray zone. These neurological signs may be due to elevated levels of expanded CGG repeat FMR1 mRNA in the gray zone carriers, similar to the changes seen in premutation carriers with FXTAS. (c) 2011 Movement Disorder Society.
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12. Hallett V, Ronald A, Rijsdijk F, Happe F. {{Disentangling the Associations Between Autistic-Like and Internalizing Traits: A Community Based Twin Study}}. {J Abnorm Child Psychol};2011 (Dec 10)
Internalizing difficulties are prevalent in children with autism spectrum disorders (ASD), yet little is known about the underlying cause of this comorbidity. It is also unclear which types of autistic-like and internalizing difficulties are most strongly associated. The current study investigated the phenotypic and etiological associations between specific autistic-like traits and internalizing traits within a population-based sample. Parent-reported data were analyzed from 7,311 twin pairs at age 7 to 8 years. Structural equation modeling revealed distinguishable patterns of overlap between the three autistic-like traits (social difficulties, communication problems and repetitive/restricted behaviors) and four subtypes of internalizing traits (social anxiety, fears, generalized anxiety, negative affect). Although all phenotypic associations were modest (rph = 0.00-0.36), autistic-like communication impairments and repetitive/restricted behaviors correlated most strongly with generalized anxiety and negative affect both phenotypically and genetically. Conversely, autistic-like social difficulties showed little overlap with internalizing behaviors. Disentangling these associations and their etiological underpinnings may help contribute to the conceptualization and diagnosis of ‘comorbidity’ within ASD and internalizing disorders.
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13. Hedley D, Brewer N, Young R. {{Face recognition performance of individuals with Asperger syndrome on the Cambridge face memory test}}. {Autism Res};2011 (Dec);4(6):449-455.
Although face recognition deficits in individuals with Autism Spectrum Disorder (ASD), including Asperger syndrome (AS), are widely acknowledged, the empirical evidence is mixed. This in part reflects the failure to use standardized and psychometrically sound tests. We contrasted standardized face recognition scores on the Cambridge Face Memory Test (CFMT) for 34 individuals with AS with those for 42, IQ-matched non-ASD individuals, and age-standardized scores from a large Australian cohort. We also examined the influence of IQ, autistic traits, and negative affect on face recognition performance. Overall, participants with AS performed significantly worse on the CFMT than the non-ASD participants and when evaluated against standardized test norms. However, while 24% of participants with AS presented with severe face recognition impairment (>2 SDs below the mean), many individuals performed at or above the typical level for their age: 53% scored within +/- 1 SD of the mean and 9% demonstrated superior performance (>1 SD above the mean). Regression analysis provided no evidence that IQ, autistic traits, or negative affect significantly influenced face recognition: diagnostic group membership was the only significant predictor of face recognition performance. In sum, face recognition performance in ASD is on a continuum, but with average levels significantly below non-ASD levels of performance. Autism Res 2011,4:449-455. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Huang P, Kao T, Curry AE, Durbin DR. {{Factors Associated With Driving in Teens With Autism Spectrum Disorders}}. {J Dev Behav Pediatr};2011 (Dec 8)
OBJECTIVE:: To compare the characteristics of driving and nondriving teens and explore the driving outcomes for teens with higher functioning autism spectrum disorders. METHODS:: Parents of teens aged 15 to 18 years with a parent-reported diagnosis of an autism spectrum disorder enrolled in Interactive Autism Network, an online research registry, were eligible for this cross-sectional study. An online survey was used for data collection. RESULTS:: A total of 297 parents completed the survey. Sixty-three percent of teens currently drive or plan to drive. Twenty-nine percent of the teens who are age-eligible to drive currently drive. Compared with age-eligible but nondriving teens, a greater proportion of driving teens were in full-time regular education (p < .005), planned to attend college (p < .001), and held a paid job (p = .008). A greater proportion of parents of driving teens had taught >/=1 teen to drive previously (p < .001). There were no differences in gender, autism subtype, attention deficit/hyperactivity disorder diagnosis, parental age or education, or access to public transportation. Driving predictors included individualized education plans with driving goals, indicators of functional status (classroom placement, college aspiration, and job experience), and parent experience with teaching teens to drive. Twelve percent of teens received driving citations, and 12% of teens had been involved in a motor vehicle crash. CONCLUSIONS:: Although a significant proportion of teens with higher functioning autism spectrum disorders were driving or learning to drive, the fact that most driving teens’ individualized education plans did not include driving goals suggests an area of opportunity for improvement in transition planning. Driving teens were more frequently in regular education settings with college aspirations, which could help schools identify potential drivers.
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15. Logan SL, Nicholas JS, Carpenter LA, King LB, Garrett-Mayer E, Charles JM. {{High Prescription Drug Use and Associated Costs among Medicaid-Eligible Children with Autism Spectrum Disorders Identified by a Population-Based Surveillance Network}}. {Ann Epidemiol};2012 (Jan);22(1):1-8.
PURPOSE: We assessed medication use and associated costs among 8- and 15-year-old children with autism spectrum disorders (ASD) identified by the South Carolina Autism and Developmental Disabilities Monitoring (SCADDM) Network. METHODS: All Medicaid-eligible SCADDM-identified children with ASD from surveillance years 2006 and 2007 were included (n = 263). Children were classified as ASD cases when documented behaviors consistent with the DSM-IV-TR criteria for autistic disorder, Asperger disorder, or pervasive developmental disorder-not otherwise specified were present in health and education evaluation records. Medication and cost data were obtained by linking population-based and Medicaid data. RESULTS: All 263 SCADDM-identified children had Medicaid data available; 56% (n = 147) had a prescription of any type, 40% (n = 105) used psychotropic medication, and 20% (n = 52) used multiple psychotropic classes during the study period. Common combinations were (1) attention deficit hyperactivity disorder medications and an antihypertensive, antidepressant or antipsychotic; and (2) antidepressants and an antipsychotic. Multiple psychotropic classes were more common among older children. Both the overall distribution of the number of prescription claims and medication costs varied significantly by age. CONCLUSIONS: Results confirm that medication use in ASD, alone or in combination, is common, costly, and may increase with age.
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16. Malow B, Adkins KW, McGrew SG, Wang L, Goldman SE, Fawkes D, Burnette C. {{Melatonin for Sleep in Children with Autism: A Controlled Trial Examining Dose, Tolerability, and Outcomes}}. {J Autism Dev Disord};2011 (Dec 10)
Supplemental melatonin has shown promise in treating sleep onset insomnia in children with autism spectrum disorders (ASD). Twenty-four children, free of psychotropic medications, completed an open-label dose-escalation study to assess dose-response, tolerability, safety, feasibility of collecting actigraphy data, and ability of outcome measures to detect change during a 14-week intervention. Supplemental melatonin improved sleep latency, as measured by actigraphy, in most children at 1 or 3 mg dosages. It was effective in week 1 of treatment, maintained effects over several months, was well tolerated and safe, and showed improvement in sleep, behavior, and parenting stress. Our findings contribute to the growing literature on supplemental melatonin for insomnia in ASD and inform planning for a large randomized trial in this population.
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17. Mazurek MO, Shattuck PT, Wagner M, Cooper BP. {{Prevalence and Correlates of Screen-Based Media Use Among Youths with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Dec 8)
Anecdotal reports indicate that individuals with autism spectrum disorders (ASD) are often preoccupied with television, computers, and video games (screen-based media). However, few studies have examined this issue. The current study examined screen-based media use among a large, nationally representative sample of youths participating in the National Longitudinal Transition Study-2 (NLTS2). The majority of youths with ASD (64.2%) spent most of their free time using non-social media (television, video games), while only 13.2% spent time on social media (email, internet chatting). Compared with other disability groups (speech/language impairments, learning disabilities, intellectual disabilities), rates of non-social media use were higher among the ASD group, and rates of social media use were lower. Demographic and symptom-specific correlates were also examined.
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18. McCauley MD, Wang T, Mike E, Herrera J, Beavers DL, Huang TW, Ward CS, Skinner S, Percy AK, Glaze DG, Wehrens XH, Neul JL. {{Pathogenesis of lethal cardiac arrhythmias in mecp2 mutant mice: implication for therapy in rett syndrome}}. {Sci Transl Med};2011 (Dec 14);3(113):113ra125.
Rett syndrome is a neurodevelopmental disorder typically caused by mutations in methyl-CpG-binding protein 2 (MECP2) in which 26% of deaths are sudden and of unknown cause. To explore the hypothesis that these deaths may be due to cardiac dysfunction, we characterized the electrocardiograms in 379 people with Rett syndrome and found that 18.5% show prolongation of the corrected QT interval (QTc), an indication of a repolarization abnormality that can predispose to the development of an unstable fatal cardiac rhythm. Male mice lacking MeCP2 function, Mecp2(Null/Y), also have prolonged QTc and show increased susceptibility to induced ventricular tachycardia. Female heterozygous null mice, Mecp2(Null/+), show an age-dependent prolongation of QTc associated with ventricular tachycardia and cardiac-related death. Genetic deletion of MeCP2 function in only the nervous system was sufficient to cause long QTc and ventricular tachycardia, implicating neuronally mediated changes to cardiac electrical conduction as a potential cause of ventricular tachycardia in Rett syndrome. The standard therapy for prolonged QTc in Rett syndrome, beta-adrenergic receptor blockers, did not prevent ventricular tachycardia in Mecp2(Null/Y) mice. To determine whether an alternative therapy would be more appropriate, we characterized cardiomyocytes from Mecp2(Null/Y) mice and found increased persistent sodium current, which was normalized when cells were treated with the sodium channel-blocking anti-seizure drug phenytoin. Treatment with phenytoin reduced both QTc and sustained ventricular tachycardia in Mecp2(Null/Y) mice. These results demonstrate that cardiac abnormalities in Rett syndrome are secondary to abnormal nervous system control, which leads to increased persistent sodium current. Our findings suggest that treatment in people with Rett syndrome would be more effective if it targeted the increased persistent sodium current to prevent lethal cardiac arrhythmias.
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19. Megnin O, Flitton A, C RGJ, de Haan M, Baldeweg T, Charman T. {{Audiovisual speech integration in autism spectrum disorders: ERP evidence for atypicalities in lexical-semantic processing}}. {Autism Res};2011 (Dec 9)
In typically developing (TD) individuals, behavioral and event-related potential (ERP) studies suggest that audiovisual (AV) integration enables faster and more efficient processing of speech. However, little is known about AV speech processing in individuals with autism spectrum disorders (ASD). This study examined ERP responses to spoken words to elucidate the effects of visual speech (the lip movements accompanying a spoken word) on the range of auditory speech processing stages from sound onset detection to semantic integration. The study also included an AV condition, which paired spoken words with a dynamic scrambled face in order to highlight AV effects specific to visual speech. Fourteen adolescent boys with ASD (15-17 years old) and 14 age- and verbal IQ-matched TD boys participated. The ERP of the TD group showed a pattern and topography of AV interaction effects consistent with activity within the superior temporal plane, with two dissociable effects over frontocentral and centroparietal regions. The posterior effect (200-300 ms interval) was specifically sensitive to lip movements in TD boys, and no AV modulation was observed in this region for the ASD group. Moreover, the magnitude of the posterior AV effect to visual speech correlated inversely with ASD symptomatology. In addition, the ASD boys showed an unexpected effect (P2 time window) over the frontocentral region (pooled electrodes F3, Fz, F4, FC1, FC2, FC3, FC4), which was sensitive to scrambled face stimuli. These results suggest that the neural networks facilitating processing of spoken words by visual speech are altered in individuals with ASD. Autism Res 2011,4:xxx-xxx. (c) 2011 International Society for Autism Research, Wiley Periodicals, Inc.
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20. Meyer KJ, Axelsen MS, Sheffield VC, Patil SR, Wassink TH. {{Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism}}. {Psychiatr Genet};2011 (Dec 12)
Autism is a neurodevelopmental disorder with a strong genetic component to susceptibility. In this study, we report the molecular characterization of an apparent de-novo 281 kb duplication of chromosome 2p25.3 in two male half-siblings with autism. The 2p25.3 duplication was first identified through a low-density microarray, validated with fluorescent in-situ hybridization, and duplication breakpoints were delineated using an Affymetrix 6.0 single-nucleotide polymorphism microarray. The fluorescent in-situ hybridization results validated the novel copy number variant and revealed the mother to be mosaic, with approximately 33% of her lymphoblast cells carrying the duplication. Therefore, the duplication was transmitted through the mechanism of germline mosaicism. In addition, duplication breakpoints were refined and showed that PXDN is fully duplicated, whereas seven exons of the terminal portion of the 25 exon gene MYT1L are within the duplicated region. MYT1L, a gene predominately expressed in the brain, has recently been linked with other neuropsychiatric illness such as schizophrenia and depression. Results from this study indicate that the 2p25.3 duplication disrupting PXDN and MYT1L is a potential autism-causing variant in the pedigree reported here and should receive further consideration as a candidate for autism.
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21. O’Connor K. {{Auditory processing in autism spectrum disorder: A review}}. {Neurosci Biobehav Rev};2011 (Dec 6)
For individuals with autism spectrum disorder or ‘ASD’ the ability to accurately process and interpret auditory information is often difficult. Here we review behavioural, neurophysiological and imaging literature pertaining to this field with the aim of providing a comprehensive account of auditory processing in ASD, and thus an effective tool to aid further research. Literature was sourced from peer-reviewed journals published over the last two decades which best represent research conducted in these areas. Findings show substantial evidence for atypical processing of auditory information in ASD at behavioural and neural levels. Abnormalities are diverse, ranging from atypical perception of various low-level perceptual features (i.e. pitch, loudness) to processing of more complex auditory information such as prosody. Trends across studies suggest auditory processing impairments in ASD are most likely to present during processing of complex auditory information and are more severe for speech than for non-speech stimuli. The interpretation of these findings with respect to various cognitive accounts of ASD is discussed and suggestions offered for further research.
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22. Peacock G, Amendah D, Ouyang L, Grosse SD. {{Autism Spectrum Disorders and Health Care Expenditures: The Effects of Co-occurring Conditions}}. {J Dev Behav Pediatr};2011 (Dec 9)
OBJECTIVE:: Children with autism spectrum disorders (ASDs) often have co-occurring conditions, but little is known on the effect of those conditions on their medical care cost. Medical expenditures attributable to ASDs among Medicaid-enrolled children were calculated, and the effects of 3 commonly co-occurring conditions-intellectual disability (ID), attention deficit/hyperactivity disorder (ADHD), and epilepsy-on those expenditures were analyzed. METHODS:: Using MarketScan(R) Medicaid Multi-State Databases (2003-2005) and the International Classification of Disease, Ninth Revision, children with ASD were identified. Children without ASD formed the comparison group. The 3 co-occurring conditions were identified among both the ASD and the comparison groups. Annual mean, median, and 95th percentile of total expenditures were calculated for children with ASD and the co-occurring conditions and compared with those of children without ASD. Multivariate analyses established the influence of each of those co-occurring conditions on the average expenditures for children with and without ASD. RESULTS:: In 2005, 47% of children with ASD had at least 1 selected co-occurring condition; attention deficit/hyperactivity disorder was the most common, at 30%. The mean medical expenditures for children with ASD were 6 times higher than those of the comparison group. Children with ASD and ID incurred expenditures 2.7 times higher than did children with ASD and no co-occurring condition. CONCLUSION:: Medicaid-enrolled children with ASD incurred higher medical costs than did Medicaid-enrolled children without ASD. Among Medicaid-enrolled children with ASD, cost varied substantially based on the presence of another neurodevelopmental disorder. In particular, children with ID had much higher costs than did other children with ASD.
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23. Santos A, Chaminade T, Da Fonseca D, Silva C, Rosset D, Deruelle C. {{Just Another Social Scene: Evidence for Decreased Attention to Negative Social Scenes in High-Functioning Autism}}. {J Autism Dev Disord};2011 (Dec 8)
The adaptive threat-detection advantage takes the form of a preferential orienting of attention to threatening scenes. In this study, we compared attention to social scenes in 15 high-functioning individuals with autism (ASD) and matched typically developing (TD) individuals. Eye-tracking was recorded while participants were presented with pairs of scenes, either emotional positive-neutral, emotional negative-neutral or neutral-neutral scenes. Early allocation of attention, the first image fixated in each pair, differed between groups: contrary to TD individuals who showed the typical threat-detection advantage towards negative images, the ASD group failed to show a bias toward threat-related scenes. Later processing of stimuli, indicated by the total fixation to the images during the 3-s presentation, was found unaffected in the ASD group. These results support the hypothesis of an early atypical allocation of attention towards natural social scenes in ASD, that is compensated in later stages of visual processing.
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24. Seltzer MM, Barker ET, Greenberg JS, Hong J, Coe C, Almeida D. {{Differential sensitivity to life stress in FMR1 premutation carrier mothers of children with fragile X syndrome}}. {Health Psychol};2011 (Dec 12)
Objective: The premutation of the FMR1 gene (defined as between 55 and 200 CGG repeats) is estimated to affect 1 in 149 females and 1 in 643 males, and some people who carry the FMR1 premutation display signs of impairment. Method: This study focuses on 82 premutation carrier mothers (M age = 51.4 years; SD = 7.7) of adolescent and adult children with fragile X syndrome (FXS). A Gene x Environment interaction approach examined the ways in which the experience of negative life events interacts with genetic vulnerability to predict depressive symptoms, anxiety, and daily cortisol levels. Results: The associations of life events with all 3 dependent measures were associated with CGG repeat length but in a curvilinear manner. Mothers with midsize CGG repeats who experienced above-average numbers of negative life events in the previous year had more depressive symptoms and anxiety and had a blunted cortisol awakening response, as compared with those with higher or lower repeat lengths. However, mothers with midsize CGG repeats who experienced below-average numbers of negative life events in the previous year had the lowest levels of depressive symptoms and anxiety, and they exhibited the typical cortisol response to awakening, meeting the criteria for differential susceptibility. Conclusions: This research extends our understanding of the phenotypic effects of the expansion of the FMR1 gene, and it adds to the growing literature on the curvilinear relationship between CGG repeat length and mental and physical health. (PsycINFO Database Record (c) 2011 APA, all rights reserved).
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25. Sinha Y, Silove N, Hayen A, Williams K. {{Auditory integration training and other sound therapies for autism spectrum disorders (ASD)}}. {Cochrane Database Syst Rev};2011;12:CD003681.
BACKGROUND: Auditory integration therapy was developed as a technique for improving abnormal sound sensitivity in individuals with behavioural disorders including autism spectrum disorders. Other sound therapies bearing similarities to auditory integration therapy include the Tomatis Method and Samonas Sound Therapy. OBJECTIVES: To determine the effectiveness of auditory integration therapy or other methods of sound therapy in individuals with autism spectrum disorders. SEARCH METHODS: For this update, we searched the following databases in September 2010: CENTRAL (2010, Issue 2), MEDLINE (1950 to September week 2, 2010), EMBASE (1980 to Week 38, 2010), CINAHL (1937 to current), PsycINFO (1887 to current), ERIC (1966 to current), LILACS (September 2010) and the reference lists of published papers. One new study was found for inclusion. SELECTION CRITERIA: Randomised controlled trials involving adults or children with autism spectrum disorders. Treatment was auditory integration therapy or other sound therapies involving listening to music modified by filtering and modulation. Control groups could involve no treatment, a waiting list, usual therapy or a placebo equivalent. The outcomes were changes in core and associated features of autism spectrum disorders, auditory processing, quality of life and adverse events. DATA COLLECTION AND ANALYSIS: Two independent review authors performed data extraction. All outcome data in the included papers were continuous. We calculated point estimates and standard errors from t-test scores and post-intervention means. Meta-analysis was inappropriate for the available data. MAIN RESULTS: We identified six randomised comtrolled trials of auditory integration therapy and one of Tomatis therapy, involving a total of 182 individuals aged three to 39 years. Two were cross-over trials. Five trials had fewer than 20 participants. Allocation concealment was inadequate for all studies. Twenty different outcome measures were used and only two outcomes were used by three or more studies. Meta-analysis was not possible due to very high heterogeneity or the presentation of data in unusable forms. Three studies (Bettison 1996; Zollweg 1997; Mudford 2000) did not demonstrate any benefit of auditory integration therapy over control conditions. Three studies (Veale 1993; Rimland 1995; Edelson 1999) reported improvements at three months for the auditory integration therapy group based on the Aberrant Behaviour Checklist, but they used a total score rather than subgroup scores, which is of questionable validity, and Veale’s results did not reach statistical significance. Rimland 1995 also reported improvements at three months in the auditory integration therapy group for the Aberrant Behaviour Checklist subgroup scores. The study addressing Tomatis therapy (Corbett 2008) described an improvement in language with no difference between treatment and control conditions and did not report on the behavioural outcomes that were used in the auditory integration therapy trials. AUTHORS’ CONCLUSIONS: There is no evidence that auditory integration therapy or other sound therapies are effective as treatments for autism spectrum disorders. As synthesis of existing data has been limited by the disparate outcome measures used between studies, there is not sufficient evidence to prove that this treatment is not effective. However, of the seven studies including 182 participants that have been reported to date, only two (with an author in common), involving a total of 35 participants, report statistically significant improvements in the auditory intergration therapy group and for only two outcome measures (Aberrant Behaviour Checklist and Fisher’s Auditory Problems Checklist). As such, there is no evidence to support the use of auditory integration therapy at this time.
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26. Smith LE, Greenberg JS, Seltzer MM. {{Social Support and Well-being at Mid-Life Among Mothers of Adolescents and Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Dec 13)
The present study investigated the impact of social support on the psychological well-being of mothers of adolescents and adults with ASD (n = 269). Quantity of support (number of social network members) as well as valence of support (positive support and negative support) were assessed using a modified version of the « convoy model » developed by Antonucci and Akiyama (1987). Having a larger social network was associated with improvements in maternal well-being over an 18-month period. Higher levels of negative support as well as increases in negative support over the study period were associated with increases in depressive symptoms and negative affect and decreases in positive affect. Social support predicted changes in well-being above and beyond the impact of child behavior problems. Implications for clinical practice are discussed.
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27. Smith LE, Seltzer MM, Greenberg JS. {{Daily Health Symptoms of Mothers of Adolescents and Adults with Fragile X Syndrome and Mothers of Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Dec 14)
Health symptoms of mothers of adolescents and adults with fragile X syndrome (FXS; n = 112) were compared to a nationally-representative sample of mothers of similarly-aged children without disabilities (n = 230) as well as to a sample of mothers of adolescents and adults with autism spectrum disorders (ASD; n = 96). Health symptoms experienced in the previous 24 h were recorded during 8 consecutive days of a daily diary study. Both mothers of a son or daughter with FXS and mothers of a son or daughter with ASD had a higher proportion of days with headaches, backaches, muscle soreness, fatigue, and hot flashes than mothers of children without disabilities. Mothers of children with disabilities appear to be at particular risk for health problems, highlighting a need for comprehensive services for families across the lifespan.
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28. van Haasteren J. {{Autism: Social norms depend on what is typical}}. {Nature};2011 (Dec 15);480(7377):321.
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29. Welterlin A, Turner-Brown LM, Harris S, Mesibov G, Delmolino L. {{The Home TEACCHing Program for Toddlers with Autism}}. {J Autism Dev Disord};2011 (Dec 13)
The study evaluated the efficacy a parent training intervention for children with autism based on the TEACCH model. Twenty families were randomly assigned to the treatment or waitlist group. All families were compared at pre- and post-treatment on formal dependent measures. Direct measures of behavior were compared across six matched pairs using a multiple baseline probe design. The results of the multiple baseline design showed robust support for improvement in child and parent behavior. Due to the sample size and short time frame, results of a repeated measures analysis of variance did not reach significance.
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30. Zhu H, Hu Y, Zhu R, Yang Y, Zhu X, Wang W, Duan H. {{[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2011 (Dec);28(6):625-629.
OBJECTIVE: To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene. METHODS: Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis of members of the family as well as normal controls. Lymphocyte culture for karyotype analysis was carried out for the patient to exclude chromosomal abnormalities. RESULTS: The karyotype of the girl was normal. No variation of the MECP2 gene was detected in the patient by direct sequencing. A heterozygosis variation, c.1072G>A in exon 4 of the MECP2 gene was detected in a normal female control, which was not found in other controls. The son and daughter of the female control were respectively heterozygous and homozygous carriers of the same mutation. By MLPA analysis, a heterozygosis deletion of exon 3 and part of exon 4 was detected in the patient. cDNA amplification and sequencing confirmed the presence of a 1176 bp deletion (c.27-1202del1176). The same deletion was not detected in the parents. CONCLUSION: A large deletion in MECP2 gene was detected with MLPA in a patient featuring typical Rett syndrome. The same deletion was missed by sequencing analysis. With cDNA sequencing, the breakage point of the mutation can be mapped precisely.
