1. {{The Anger Box – Sensory Turmoil and Pain in Autism Caldwell Phoebe The Anger Box – Sensory Turmoil and Pain in Autism 146pp pound12.95 Pavilion Publishing 978 1 9098 1044 0 1909810444 [Formula: see text]}}. {Nurs Stand};2014 (May 7);28(36):32.
At the GP surgery where I used to work, we saw many child and adult patients living with autism and learning disabilities.
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2. de Vries M, Geurts HM. {{Beyond individual differences: are working memory and inhibition informative specifiers within ASD?}}. {J Neural Transm};2014 (May 6)
Findings on working memory (WM) and inhibition in children with autism spectrum disorders (ASD) are contradictory and earlier studies largely ignored individual differences. As WM and inhibition seem to be related, children who experience WM deficits might also experience inhibition deficits. Moreover, these children possibly form a distinct subgroup, differing on other variables, such as cognitive functioning, symptom severity, behavior, and attention deficit hyperactivity disorder (ADHD) characteristics. We studied a large sample of children with and without ASD (8-12 years, IQ > 80) with classic experimental tasks (n-back task, ASD n = 77, control n = 45; stop task, ASD n = 74, control n = 43), and explored individual differences. The ASD group made more errors on the n-back task with increasing WM load, and had longer stop signal reaction times on the stop task when compared with controls. However, only 6 % of the ASD group showed both WM and inhibition deficits, and 71 % showed no deficits. Parents of children with WM and/or inhibition deficits tended to report more conduct problems on the disruptive behavior disorder rating scale. ADHD characteristics did not influence performance. Some children used medication during testing, which seemingly influenced stop task performance, but excluding these data did not change the main findings. Large individual differences in cognitive functioning are present, even within children with ASD with average or above average intelligence. However, whether individual differences in specific cognitive domains, such as WM and inhibition are as informative as individual differences in diagnosis, comorbidity, and general cognitive functioning, calls for future research.
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3. Denmark T, Atkinson J, Campbell R, Swettenham J. {{How do Typically Developing Deaf Children and Deaf Children with Autism Spectrum Disorder Use the Face When Comprehending Emotional Facial Expressions in British Sign Language?}}. {J Autism Dev Disord};2014 (May 7)
Facial expressions in sign language carry a variety of communicative features. While emotion can modulate a spoken utterance through changes in intonation, duration and intensity, in sign language specific facial expressions presented concurrently with a manual sign perform this function. When deaf adult signers cannot see facial features, their ability to judge emotion in a signed utterance is impaired (Reilly et al. in Sign Lang Stud 75:113-118, 1992). We examined the role of the face in the comprehension of emotion in sign language in a group of typically developing (TD) deaf children and in a group of deaf children with autism spectrum disorder (ASD). We replicated Reilly et al.’s (Sign Lang Stud 75:113-118, 1992) adult results in the TD deaf signing children, confirming the importance of the face in understanding emotion in sign language. The ASD group performed more poorly on the emotion recognition task than the TD children. The deaf children with ASD showed a deficit in emotion recognition during sign language processing analogous to the deficit in vocal emotion recognition that has been observed in hearing children with ASD.
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4. Gidaya NB, Lee BK, Burstyn I, Yudell M, Mortensen EL, Newschaffer CJ. {{In Utero Exposure to Selective Serotonin Reuptake Inhibitors and Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (May 7)
We investigated whether there is an association between increased risk for autism spectrum disorders (ASD) and selective serotonin reuptake inhibitors (SSRIs) used during pregnancy. This study used Denmark’s health and population registers to obtain information regarding prescription drugs, ASD diagnosis, and health and socioeconomic status. There were 1.5 % of cases and 0.7 % of controls exposed to SSRIs during the pregnancy period, and higher effect estimates observed with longer use. We found evidence that in utero exposure to SSRIs increases a child’s risk associated with ASD. These results, while adding to the limited knowledge on prenatal pharmacological exposures as potential ASD risk factors, need to be balanced against the benefits of indicated medication use by pregnant mothers.
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5. Jokiranta E, Sourander A, Suominen A, Timonen-Soivio L, Brown AS, Sillanpaa M. {{Epilepsy Among Children and Adolescents with Autism Spectrum Disorders: A Population-Based Study}}. {J Autism Dev Disord};2014 (May 7)
The present population-based study examines associations between epilepsy and autism spectrum disorders (ASD). The cohort includes register data of 4,705 children born between 1987 and 2005 and diagnosed as cases of childhood autism, Asperger’s syndrome or pervasive developmental disorders-not otherwise specified. Each case was matched to four controls by gender, date of birth, place of birth, and residence in Finland. Epilepsy was associated with ASD regardless of the subgroup after adjusting for covariates. The associations were stronger among cases with intellectual disability, especially among females. Epilepsy’s age at onset was similar between the cases and controls regardless of the ASD subgroup. These findings emphasize the importance to examine the neurodevelopmental pathways in ASD, epilepsy and intellectual disability.
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6. McGavin CL. {{A piece of my mind. More than « a case of fragile X »}}. {JAMA};2014 (May 7);311(17):1735.
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7. Murdaugh DL, Nadendla KD, Kana RK. {{Differential role of temporoparietal junction and medial prefrontal cortex in causal inference in autism: An independent component analysis}}. {Neurosci Lett};2014 (May 7);568:50-55.
Neuroimaging studies have consistently identified a network of brain regions responsible for making inferences of others’ mental states. This network includes the medial prefrontal cortex (MPFC), posterior superior temporal sulcus (pSTS) at the temporoparietal junction (TPJ), and temporal poles. Although TPJ and MPFC are key nodes of the Theory of Mind (ToM) network, their relative functional roles are still debated. This study sought to examine the contribution of these regions in causal attribution and to explore the nature of the ToM network in people with autism spectrum disorders (ASD). Participants watched a series of comic strip vignettes in the MRI scanner, and identified the most logical ending to each vignette, which sometimes required intentional causal attribution. Independent component analysis was done to isolate temporally correlated brain networks. The functional networks for intentional causality included the TPJ and MPFC, with an increased contribution of TPJ. There was also a significant group difference in the TPJ, with reduced response in participants with ASD. These results suggest an increased role of TPJ in intentional causality. In addition, the reduced response in ASD in TPJ may reflect their difficulties in social cognition.
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8. Olofson EL, Casey D, Oluyedun OA, Van Herwegen J, Becerra A, Rundblad G. {{Youth with Autism Spectrum Disorder Comprehend Lexicalized and Novel Primary Conceptual Metaphors}}. {J Autism Dev Disord};2014 (May 7)
Individuals with autism spectrum disorder (ASD) have difficulty comprehending metaphors. However, no study to date has examined whether or not they understand conceptual metaphors (i.e. mappings between conceptual structures), which could be the building blocks of metaphoric thinking and understanding. We investigated whether 13 participants with ASD (age 7;03-22;03) and 13 age-matched typically developing (TD) controls could comprehend lexicalized conceptual metaphors (e.g., Susan is a warm person) and novel ones (e.g., Susan is a toasty person). Individuals with ASD performed at greater than chance levels on both metaphor types, although their performance was lower than TD participants. We discuss the theoretical relevance of these findings and educational implications.
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9. Orinstein AJ, Helt M, Troyb E, Tyson KE, Barton ML, Eigsti IM, Naigles L, Fein DA. {{Intervention for optimal outcome in children and adolescents with a history of autism}}. {J Dev Behav Pediatr};2014 (May);35(4):247-256.
OBJECTIVE: Autism spectrum disorders (ASDs) were once considered lifelong disorders, but recent findings indicate that some children with ASDs no longer meet diagnostic criteria for any ASD and reach normal cognitive function. These children are considered to have achieved « optimal outcomes » (OO). The present study aimed to retrospectively examine group differences in the intervention history of children and adolescents with OO and those with high-functioning autism (HFA). METHOD: The current study examined intervention histories in 25 individuals with OO and 34 individuals with HFA (current age, 8-21 years), who did not differ on age, sex, nonverbal intelligence, or family income. Intervention history was collected through detailed parent questionnaires. RESULTS: Children in the OO group had earlier parental concern, received earlier referrals to specialists, and had earlier and more intensive intervention than those in the HFA group. Substantially more children with OO than HFA received applied behavior analysis (ABA) therapy, although for children who received ABA, the intensity did not differ between the groups. Children in the HFA group were more likely to have received medication, especially antipsychotics and antidepressants. There were no group differences in the percent of children receiving special diets or supplements. CONCLUSION: These data suggest that OO individuals generally receive earlier, more intense interventions, and more ABA, whereas HFA individuals receive more pharmacologic treatments. Although the use of retrospective data is a clear limitation to the current study, the substantial differences in the reported provision of early intervention, and ABA in particular, is highly suggestive and should be replicated in prospective studies.
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10. Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. {{The familial risk of autism}}. {JAMA};2014 (May 7);311(17):1770-1777.
IMPORTANCE: Autism spectrum disorder (ASD) aggregates in families, but the individual risk and to what extent this is caused by genetic factors or shared or nonshared environmental factors remains unresolved. OBJECTIVE: To provide estimates of familial aggregation and heritability of ASD. DESIGN, SETTING, AND PARTICIPANTS: A population-based cohort including 2,049,973 Swedish children born 1982 through 2006. We identified 37,570 twin pairs, 2,642,064 full sibling pairs, 432,281 maternal and 445,531 paternal half sibling pairs, and 5,799,875 cousin pairs. Diagnoses of ASD to December 31, 2009 were ascertained. MAIN OUTCOMES AND MEASURES: The relative recurrence risk (RRR) measures familial aggregation of disease. The RRR is the relative risk of autism in a participant with a sibling or cousin who has the diagnosis (exposed) compared with the risk in a participant with no diagnosed family member (unexposed). We calculated RRR for both ASD and autistic disorder adjusting for age, birth year, sex, parental psychiatric history, and parental age. We estimated how much of the probability of developing ASD can be related to genetic (additive and dominant) and environmental (shared and nonshared) factors. RESULTS: In the sample, 14,516 children were diagnosed with ASD, of whom 5689 had autistic disorder. The RRR and rate per 100,000 person-years for ASD among monozygotic twins was estimated to be 153.0 (95% CI, 56.7-412.8; rate, 6274 for exposed vs 27 for unexposed ); for dizygotic twins, 8.2 (95% CI, 3.7-18.1; rate, 805 for exposed vs 55 for unexposed); for full siblings, 10.3 (95% CI, 9.4-11.3; rate, 829 for exposed vs 49 for unexposed); for maternal half siblings, 3.3 (95% CI, 2.6-4.2; rate, 492 for exposed vs 94 for unexposed); for paternal half siblings, 2.9 (95% CI, 2.2-3.7; rate, 371 for exposed vs 85 for unexposed); and for cousins, 2.0 (95% CI, 1.8-2.2; rate, 155 for exposed vs 49 for unexposed). The RRR pattern was similar for autistic disorder but of slightly higher magnitude.We found support for a disease etiology including only additive genetic and nonshared environmental effects. The ASD heritability was estimated to be 0.50 (95% CI, 0.45-0.56) and the autistic disorder heritability was estimated to 0.54 (95% CI, 0.44-0.64). CONCLUSIONS AND RELEVANCE: Among children born in Sweden, the individual risk of ASD and autistic disorder increased with increasing genetic relatedness. Heritability of ASD and autistic disorder were estimated to be approximately 50%. These findings may inform the counseling of families with affected children.
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11. Schendel DE, Gronborg TK, Parner ET. {{The genetic and environmental contributions to autism: looking beyond twins}}. {JAMA};2014 (May 7);311(17):1738-1739.
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12. Segers M, Rawana J. {{What Do We Know About Suicidality in Autism Spectrum Disorders? A Systematic Review}}. {Autism Res};2014 (May 5)
Suicidality is a common and concerning issue across development, and there is a plethora of research on this topic among typically developing children and youth. Very little is known, however, about the nature of suicidality among individuals with autism spectrum disorders (ASDs). The purpose of the current study was to undertake a systematic literature review to assess the current state of the research literature to examine the prevalence of suicidality among individuals with ASD, related demographic and clinical profiles, and associated risk and protective factors. A literature search using key terms related to suicidality and ASD yielded 10 topical studies that were evaluated for the study objectives. Suicidality was present in 10.9-50% of the ASD samples identified in the systematic review. Further, several large-scale studies found that individuals with ASD comprised 7.3-15% of suicidal populations, a substantial subgroup. Risk factors were identified and included peer victimization, behavioral problems, being Black or Hispanic, being male, lower socioeconomic status, and lower level of education. Only one study reported on protective factors, and this is identified as a significant gap in the literature. Several methodological weaknesses were present in the current literature, such as lack of appropriate comparison groups and little to no use of empirically validated measures for ASD diagnosis and suicide assessment. Additional research is necessary to understand better how this unique population experiences and expresses suicidal tendencies. Recommendations for future research are discussed. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Smith LN, Jedynak JP, Fontenot MR, Hale CF, Dietz KC, Taniguchi M, Thomas FS, Zirlin BC, Birnbaum SG, Huber KM, Thomas MJ, Cowan CW. {{Fragile x mental retardation protein regulates synaptic and behavioral plasticity to repeated cocaine administration}}. {Neuron};2014 (May 7);82(3):645-658.
Repeated cocaine exposure causes persistent, maladaptive alterations in brain and behavior, and hope for effective therapeutics lies in understanding these processes. We describe here an essential role for fragile X mental retardation protein (FMRP), an RNA-binding protein and regulator of dendritic protein synthesis, in cocaine conditioned place preference, behavioral sensitization, and motor stereotypy. Cocaine reward deficits in FMRP-deficient mice stem from elevated mGluR5 (or GRM5) function, similar to a subset of fragile X symptoms, and do not extend to natural reward. We find that FMRP functions in the adult nucleus accumbens (NAc), a critical addiction-related brain region, to mediate behavioral sensitization but not cocaine reward. FMRP-deficient mice also exhibit several abnormalities in NAc medium spiny neurons, including reduced presynaptic function and premature changes in dendritic morphology and glutamatergic neurotransmission following repeated cocaine treatment. Together, our findings reveal FMRP as a critical mediator of cocaine-induced behavioral and synaptic plasticity. VIDEO ABSTRACT:
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14. Smith MJ, Ginger EJ, Wright K, Wright MA, Taylor JL, Humm LB, Olsen DE, Bell MD, Fleming MF. {{Virtual Reality Job Interview Training in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2014 (May 7)
The feasibility and efficacy of virtual reality job interview training (VR-JIT) was assessed in a single-blinded randomized controlled trial. Adults with autism spectrum disorder were randomized to VR-JIT (n = 16) or treatment-as-usual (TAU) (n = 10) groups. VR-JIT consisted of simulated job interviews with a virtual character and didactic training. Participants attended 90 % of laboratory-based training sessions, found VR-JIT easy to use and enjoyable, and they felt prepared for future interviews. VR-JIT participants had greater improvement during live standardized job interview role-play performances than TAU participants (p = 0.046). A similar pattern was observed for self-reported self-confidence at a trend level (p = 0.060). VR-JIT simulation performance scores increased over time (R 2 = 0.83). Results indicate preliminary support for the feasibility and efficacy of VR-JIT, which can be administered using computer software or via the internet.
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15. Valacchi G, Ashwood P. {{ASD: Biochemical Mechanisms behind Behavioral Disorders}}. {Mediators Inflamm};2014;2014:758473.
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16. Voorhuis M, Onland-Moret NC, Janse F, Ploos van Amstel HK, Goverde AJ, Lambalk CB, Laven JS, van der Schouw YT, Broekmans FJ, Fauser BC. {{The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency}}. {Hum Reprod};2014 (May 7)
STUDY QUESTION: Are fragile X mental retardation gene 1 (FMR1) CGG repeats in the normal and intermediate range (up to 55 repeats) associated with primary ovarian insufficiency (POI) in a large case-control study? SUMMARY ANSWER: No association was found between CGG repeats of intermediate size and POI compared with controls. WHAT IS KNOWN ALREADY: CGG repeats in the FMR1 gene in the premutation range (55-200 repeats) have consistenly associated with POI. Intermediate range CGG repeats have been considered for a potential association with POI. STUDY DESIGN, SIZE: A case-control study in 375 well-phenotyped Dutch women diagnosed with POI and 3368 controls with natural menopause >/=40 years of age. PARTICIPANTS/MATERIALS, SETTING, METHODS: The FMR1 CGG repeat number was determined by PCR amplification in women diagnosed with POI and women with a known age at natural menopause >/=40 years. The prevalence of intermediate sized CGG repeats (45-54 repeats) was compared between POI cases and controls using Fisher’s exact test. Differences in mean CGG repeat lengths on allele 1 and allele 2 between POI cases and controls were tested using analysis of variance. MAIN RESULTS AND THE ROLE OF CHANCE: The frequency of intermediate sized CGG repeats on the allele with the longest triple repeat number was not statistically significantly different between POI cases and controls (2.7 and 3.8%, respectively, odds ratio 0.72, 95% confidence interval: 0.38-1.39, P = 0.38). In women with POI, linear regression analysis for age at POI diagnosis and CGG repeat size also failed to show any association (beta = -0.018, P = 0.74). LIMITATIONS, REASONS FOR CAUTION: FMR1 CGG repeat lengths in POI cases and controls were genotyped in two different laboratories. The distributions of CGG repeats may vary among the different ethnic populations in our study. Also, in our study women with primary amenorrhea (N = 17) were included in the POI group. WIDER IMPLICATIONS OF THE FINDINGS: We found no association between intermediate sized CGG repeats and POI compared with controls. Therefore, a role for FMR1 CGG repeat sizes up to 55 repeats in the ovarian ageing process may be questioned. Moreover, there seems limited value in the evaluation of normal- and intermediate FMR1 repeat size in the diagnostic work-up of women affected by POI, or for prognostic purposes in women at risk of developing POI. STUDY FUNDING/COMPETING INTEREST(S): The Prospect-EPIC study was funded by ‘Europe Against Cancer’ Program of the European Commission (SANCO); the Dutch Ministry of Health; the Dutch Cancer Society; ZonMW the Netherlands Organization for Health Research and Development; World Cancer Research Fund (WCRF) and the Dutch Heart Association.
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17. Wei H, Alberts I, Li X. {{The apoptotic perspective of autism}}. {Int J Dev Neurosci};2014 (May 2)
Autism is a severe neurodevelopmental disorder characterized by impairments in social interaction, deficits in verbal and non-verbal communication, and repetitive behavior and restricted interests. The normal brain development during fetal brain development and the first year of life is critical to the behaviors and cognitions in adulthood. Programmed cell death (apoptosis) is an important mechanism that determines the size and shape of the brain and regulates the proper wiring of developing neuronal networks. Pathological activation of apoptotic death pathways under pathological conditions may lead to neuroanatomic abnormalities and possibly to developmental disabilities. It has been demonstrated a possible association between neural cell death and autism. Here, the abnormal apoptosis found in autism from postmortem and animal studies was reviewed and the possible mechanism was discussed.
