1. Al-Ansari AM, Ahmed MM. {{Parental age. Risk of autistic disorder}}. {Neurosciences (Riyadh)};2012 (Oct);17(4):382-383.
2. Altgassen M, Koban N, Kliegel M. {{Do adults with autism spectrum disorders compensate in naturalistic prospective memory tasks?}}. {J Autism Dev Disord};2012 (Oct);42(10):2141-2151.
The present study is the first to directly compare event- and time-based prospective memory in Autism Spectrum Disorders (ASD) using a contextual task mirroring real life demands of prospective memory. Twenty-five individuals with ASD and 25 age- and ability-matched controls completed the Dresden Breakfast task which required participants to prepare breakfast following a set of rules and time restrictions. Overall, adults with ASD had less correct time- and event-based prospective memory responses in comparison to controls, which is consistent with previous research in children with ASD. Moreover, ASD participants completed fewer tasks, followed rules less closely, and monitored the elapsing time less closely than controls. Individuals with ASD seem not to be compensating in naturalistic prospective memory tasks.
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3. Baker JK, Seltzer MM, Greenberg JS. {{Behaviour problems, maternal internalising symptoms and family relations in families of adolescents and adults with fragile X syndrome}}. {J Intellect Disabil Res};2012 (Oct);56(10):984-995.
Background Studies have linked the behaviour problems of children with fragile X syndrome (FXS) to maternal well-being, but less is known about how behaviour problems relate to important family factors such as marital satisfaction and family cohesion. Methods Married mothers of 115 adolescents and adults with FXS completed questionnaires and interviews, and maternal CGG repeat length was obtained by medical/laboratory records or by blood analysis. Results Indirect effects were present between behaviour problems and family variables in that behaviour problems were positively related to maternal internalising symptoms which were, in turn, negatively associated with both family cohesion and marital satisfaction. Direct associations between behaviour problems and family relationship variables were not significant. Conclusions Findings suggest the importance of intervening with behaviour problems in individuals with FXS and identify maternal mental health as a potentially powerful conduit for the effects of child behaviour on relationships within these families. Implications for targeted interventions are discussed.
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4. Bandstra NF, Johnson SA, Filliter JH, Chambers CT. {{Self-reported and Parent-reported Pain for Common Painful Events in High-functioning Children and Adolescents With Autism Spectrum Disorder}}. {Clin J Pain};2012 (Oct);28(8):715-721.
OBJECTIVES: : Previous research suggests that children with autism spectrum disorders (ASD) are at a higher risk for painful experiences, but there is limited research examining pain in children with ASD. METHODS: : The current study examined self-reported and parent-reported pain in 20 high-functioning youth with ASD (17 boys; 3 girls) and 20 typically developing controls (16 boys; 4 girls) ranging in age from 9 to 18 years and matched on age and IQ. Participants with and without ASD rated their hypothetical pain in a series of pictures depicting common childhood situations. They also rated the amount of pain they would expect to feel (using the Faces Pain Scale-Revised and a Numeric Rating Scale) in a series of validated hypothetical pain situations depicted in cartooned images (eg, scraping knee on sidewalk). Parents rated the amount of pain they would expect their child to show in each of the same cartoon stimuli. RESULTS: : There were no significant differences between pain vignette ratings of youth with ASD and their non-ASD peers or in the ratings provided by their parents. High-functioning youth with ASD were able to successfully use both of the self-report scales to rate pain. DISCUSSION: : This is the first study to successfully obtain self-report of pain from youth with ASD. Implications for the understanding of pain and pain assessment in high-functioning youth with ASD are discussed.
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5. Bedford R, Elsabbagh M, Gliga T, Pickles A, Senju A, Charman T, Johnson MH. {{Precursors to Social and Communication Difficulties in Infants At-Risk for Autism: Gaze Following and Attentional Engagement}}. {J Autism Dev Disord};2012 (Oct);42(10):2208-2218.
Whilst joint attention (JA) impairments in autism have been widely studied, little is known about the early development of gaze following, a precursor to establishing JA. We employed eye-tracking to record gaze following longitudinally in infants with and without a family history of autism spectrum disorder (ASD) at 7 and 13 months. No group difference was found between at-risk and low-risk infants in gaze following behaviour at either age. However, despite following gaze successfully at 13 months, at-risk infants with later emerging socio-communication difficulties (both those with ASD and atypical development at 36 months of age) allocated less attention to the congruent object compared to typically developing at-risk siblings and low-risk controls. The findings suggest that the subtle emergence of difficulties in JA in infancy may be related to ASD and other atypical outcomes.
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6. Bekhet AK, Johnson NL, Zauszniewski JA. {{Resilience in family members of persons with autism spectrum disorder: a review of the literature}}. {Issues Ment Health Nurs};2012 (Oct);33(10):650-656.
Worldwide, caregivers find caring for children with Autism Spectrum Disorder (ASD) challenging. Family members must manage many aspects of care giving, which is demanding, overwhelming, and can affect the family members’ mental health. However learning how to be resilient may help family members overcome the stress and burden associated with caring for a person with ASD. A search was completed in Medline, PsycINFO, Proquest, Web of Science, and CINAHL using the key words « autism, » « caregivers, » « mothers, » and « fathers, » alone and in combination. Inclusion criteria were English language articles reporting studies with samples of children with ASD, as distinct from children with other intellectual or developmental disabilities. Fifty-eight articles that met these inclusion criteria were summarized and, from those, the authors selected 22 articles that included indicators of resilience. This integrative review highlights current research on resilience in adult family members of persons with ASD. Indicators of resilience, risk factors, protective factors, and outcomes of resilience were identified. The review indicates that parents of children with ASD who possess indicators of resilience are better able to manage the adversity associated with caring for children with ASD. Thus, enhancing resilience among family members of persons with autism may be beneficial to both the caregivers and care recipients.
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7. Brown AS. {{Epidemiologic studies of exposure to prenatal infection and risk of schizophrenia and autism}}. {Dev Neurobiol};2012 (Oct);72(10):1272-1276.
In this review, we provide a synopsis of work on the epidemiologic evidence for prenatal infection in the etiology of schizophrenia and autism. In birth cohort studies conducted by our group and others, in utero exposure to infectious agents, prospectively obtained after biomarker assays of archived maternal sera and by obstetric records was related to an increased risk of schizophrenia. Thus far, it has been demonstrated that prenatal exposure to influenza, increased toxoplasma antibody, genital-reproductive infections, rubella, and other pathogens are associated with schizophrenia. Anomalies of the immune system, including enhanced maternal cytokine levels, are also related to schizophrenia. Some evidence also suggests that maternal infection and immune dysfunction may be associated with autism. Although replication is required, these findings suggest that public health interventions targeting infectious exposures have the potential for preventing cases of schizophrenia and autism. Moreover, this work has stimulated translational research on the neurobiological and genetic determinants of these conditions. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012.
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8. Bultas MW. {{The health care experiences of the preschool child with autism}}. {J Pediatr Nurs};2012 (Oct);27(5):460-470.
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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9. Chown N. {{‘History and First Descriptions’ of Autism: A response to Michael Fitzgerald}}. {J Autism Dev Disord};2012 (Oct);42(10):2263-2265.
Letter to the editor in response to Michael Fitzgerald’s controversial allegation that one of the two pioneers of autism-Leo Kanner-may have been influenced by an earlier paper by the other autism pioneer-Hans Asperger-without acknowledging the debt, and that Kanner may even have been guilty of plagiarising Asperger. In correspondence, Professor Fitzgerald has suggested that I « consider doing my take on the matter ». This is it.
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10. Christofolini DM, Meloni VA, de Paula Ramos MA, Oliveira MM, de Mello CB, Pellegrino R, Takeno SS, Melaragno MI. {{Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement}}. {Am J Med Genet B Neuropsychiatr Genet};2012 (Oct);159B(7):823-828.
The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, with few patients described with molecular techniques. These patients present distinctive clinical findings including developmental delay and intellectual disability, minor dysmorphic facial features, epilepsy, and autistic behavior. Here we describe an interstitial rearrangement of chromosome 15 composed of a triplication approximately 6.9 Mb from 15q11.2 to 15q13.2 followed by a duplication of approximately 2.4 Mb from 15q13.2 to 15q13.3, defined using different approaches as MLPA, qPCR, array and FISH. FISH revealed that the middle part of the triplicated segment was in inverted position. The parental origin of the rearrangement was assessed using methylation assay and SNP array that revealed the maternal origin of the additional material. The patient presents most of the clinical features associated to 15q11.2 triplication: minor dysmorphic facial features, generalized epilepsy, absence seizures, intellectual disability, and autistic behavior. In conclusion, the use of more accurate molecular tools enabled a detailed investigation, providing the identification of intrachromosome duplication/triplication and bringing new light to the study of genetic causes of autistic disorders. (c) 2012 Wiley Periodicals, Inc.
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11. Crane L, Pring L, Jukes K, Goddard L. {{Patterns of autobiographical memory in adults with autism spectrum disorder}}. {J Autism Dev Disord};2012 (Oct);42(10):2100-2112.
Two studies are presented that explored the effects of experimental manipulations on the quality and accessibility of autobiographical memories in adults with autism spectrum disorder (ASD), relative to a typical comparison group matched for age, gender and IQ. Both studies found that the adults with ASD generated fewer specific memories than the comparison group, and took significantly longer to do so. Despite this, experimental manipulations affected two indices of autobiographical memory (specificity and retrieval latency) similarly in both groups. These results suggest that adults with ASD experience a quantitative reduction in the speed and specificity of autobiographical memory retrieval, but that when they do retrieve these memories, they do so in a way that is qualitatively similar to that of typical adults.
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12. Elwin M, Ek L, Schroder A, Kjellin L. {{Autobiographical accounts of sensing in asperger syndrome and high-functioning autism}}. {Arch Psychiatr Nurs};2012 (Oct);26(5):420-429.
Sensory experiences in Asperger syndrome (AS) or high-functioning autism (HFA) were explored by qualitative content analysis of autobiographical texts by persons with AS/HFA. Predetermined categories of hyper- and hyposensitivity were applied to texts. Hypersensitivity consists of strong reactions and heightened apprehension in reaction to external stimuli, sometimes together with overfocused or unselective attention. It was common in vision, hearing, and touch. In contrast, hyposensitivity was frequent in reaction to internal and body stimuli such as interoception, proprioception, and pain. It consists of less registration, discrimination, and recognition of stimuli as well as cravings for specific stimuli. Awareness of the strong impact of sensitivity is essential for creating good environments and encounters in the context of psychiatric and other health care.
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13. Falck-Ytter T, Fernell E, Hedvall AL, von Hofsten C, Gillberg C. {{Gaze performance in children with autism spectrum disorder when observing communicative actions}}. {J Autism Dev Disord};2012 (Oct);42(10):2236-2245.
The main purpose of this eye tracking study was to map the correlates of gaze performance in a brief test of spontaneous gaze and point-gesture following in young children with autistic disorder (AD), Pervasive developmental disorder-not otherwise specified (PDD-NOS), or typical development (TD). Gaze measures included the children’s spontaneous tendency to look at the correct (attended) toy, and the latency of their correct responses. In addition to group differences (AD vs. TD), we found that in AD, accuracy of performance was specifically related to adaptive communication skills. The study also indicated that the latency of correct gaze shifts is related to verbal intelligence. These results have direct implications for our understanding of (responsive) joint attention impairments in AD.
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14. Feczko E, Miezin FM, Constantino JN, Schlaggar BL, Petersen SE, Pruett JR, Jr. {{The hemodynamic response in children with Simplex Autism}}. {Dev Cogn Neurosci};2012 (Oct);2(4):396-408.
BACKGROUND: Numerous functional magnetic resonance imaging (fMRI) studies of the brain-bases of autism have demonstrated altered cortical responses in subjects with autism, relative to typical subjects, during a variety of tasks. These differences may reflect altered neuronal responses or altered hemodynamic response. This study searches for evidence of hemodynamic response differences by using a simple visual stimulus and elementary motor actions, which should elicit similar neuronal responses in patients and controls. METHODS: We acquired fMRI data from two groups of 16 children, a typical group and a group with Simplex Autism, during a simple visuomotor paradigm previously used to assess this question in other cross-group comparisons. A general linear model estimated the blood-oxygen-level-dependent (BOLD) signal time course, and repeated-measures analysis of variance tested for potential cross-group differences in the BOLD signal. RESULTS: The hemodynamic response in Simplex Autism is similar to that found in typical children. Although the sample size was small for a secondary analysis, medication appeared to have no effect on the hemodynamic response within the Simplex Autism group. CONCLUSIONS: When fMRI studies show BOLD response differences between autistic and typical subjects, these results likely reflect between-group differences in neural activity and not an altered hemodynamic response.
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15. Finkenauer C, Pollmann MM, Begeer S, Kerkhof P. {{Brief report: examining the link between autistic traits and compulsive internet use in a non-clinical sample}}. {J Autism Dev Disord};2012 (Oct);42(10):2252-2256.
Individuals with autism spectrum disorders or autistic traits may profit from Internet and computer-mediated interactions, but there is concern about their Internet use becoming compulsive. This study investigated the link between autistic traits and Internet use in a 2-wave longitudinal study with a non-clinical community sample (n = 390). As compared to people with less autistic traits, people with more autistic traits did not report a higher frequency of Internet use, but they were more prone to compulsive Internet use. For women, more autistic traits predicted an increase in compulsive Internet use over time. These results suggest that, despite its appeal for people with autistic traits, the Internet carries the risk of compulsive use.
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16. Fourie CL, Theron LC. {{Resilience in the face of fragile x syndrome}}. {Qual Health Res};2012 (Oct);22(10):1355-1368.
In this article, we communicate transformative findings from a case study on the resilience of a young woman with fragile X syndrome (FXS), a genetic condition involving mental impairment and physical, emotional, and behavioral challenges. We explored the resilience of « Lucy, » a spirited 16-year-old North American, using informal interviews with her, formal interviews with significant adults in her life, and observations (visual and anecdotal) over 20 months. In reporting the information-rich case of Lucy, well supported by her ecology to rise above full-mutation FXS, we encourage a positive perspective of living with FXS. Although we recognize the limitations of a single case study, our findings offer tentative, process-oriented insights into resilience in contexts of genetic disability, previously unreported in conjunction with FXS. We concluded that the processes informing Lucy’s resilience were partly her responsibility and partly her social ecology’s, and comprised intrapersonal agency, unconditional positive acceptance and belonging, and support toward mastery.
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17. Gadow KD. {{Schizophrenia spectrum and attention-deficit/hyperactivity disorder symptoms in autism spectrum disorder and controls}}. {J Am Acad Child Adolesc Psychiatry};2012 (Oct);51(10):1076-1084.
OBJECTIVE: This study compared the differential severity of specific symptoms of schizophrenia spectrum disorder (SSD) in children with autism spectrum disorder (ASD) and child psychiatry outpatient referrals (controls). Each group was further subdivided into subgroups with and without co-occurring attention-deficit/hyperactivity disorder (ADHD). METHOD: Children with ASD (n = 147) and controls (n = 335) were evaluated with parent and teacher versions of a psychometrically established DSM-IV-referenced rating scale. RESULTS: The two ASD groups (with and without ADHD) had a larger number of more severe SSD symptoms than their respective control groups (with and without ADHD), extending the observation of an association between ASD and SSD to subgroups with and without co-occurring ADHD. The ASD groups exhibited more severe schizoid personality symptoms than controls, but findings for schizophrenia symptoms were mixed. The ASD + ADHD group generally had more severe disorganized thought, disorganized behavior, and negative schizophrenia symptoms than controls (with and without ADHD); nevertheless, findings varied according to ADHD status (present versus absent), individual symptom (symptom specificity), and informant (informant specificity). Ratings of hallucinations and delusions indicated mild severity and few group differences. Negative symptoms such as inappropriate emotional reactions evidenced considerable group divergence. CONCLUSION: Findings provide additional support for an interrelation between ASD and SSD symptoms and the differential influence of neurobehavioral syndromes on co-occurring symptom severity, underscore the multidimensionality of SSD in children with ASD, and suggest how symptom phenotypes may contribute to a better understanding of the etiology, nosology, and possibly clinical management.
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18. Grosser E, Hirt U, Janc OA, Menzfeld C, Fischer M, Kempkes B, Vogelgesang S, Manzke TU, Opitz L, Salinas-Riester G, Muller M. {{Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome}}. {Neurobiol Dis};2012 (Oct);48(1):102-114.
Rett syndrome is an X chromosome-linked neurodevelopmental disorder associated with cognitive impairment, motor dysfunction and breathing irregularities causing intermittent hypoxia. Evidence for impaired mitochondrial function is also accumulating. A subunit of complex III is among the potentially dys-regulated genes, the inner mitochondrial membrane is leaking protons, brain ATP levels seem reduced, and Rett patient blood samples confirm increased oxidative damage. We therefore screened for mitochondrial dysfunction and impaired redox balance. In hippocampal slices of a Rett mouse model (Mecp2(-/y)) we detected an increased FAD/NADH baseline-ratio indicating intensified oxidization. Cyanide-induced anoxia caused similar decreases in FAD/NADH ratio and mitochondrial membrane potential in both genotypes, but Mecp2(-/y) mitochondria seemed less polarized. Quantifying cytosolic redox balance with the genetically-encoded optical probe roGFP1 confirmed more oxidized baseline conditions, a more vulnerable redox-balance, and more intense responses of Mecp2(-/y) hippocampus to oxidative challenge and mitochondrial impairment. Trolox treatment improved the redox baseline of Mecp2(-/y) hippocampus and dampened its exaggerated responses to oxidative challenge. Microarray analysis of the hippocampal CA1 subfield did not detect alterations of key mitochondrial enzymes or scavenging systems. Yet, quantitative PCR confirmed a moderate upregulation of superoxide dismutase 1 in Mecp2(-/y) hippocampus, which might be a compensatory response to the increased oxidative burden. Since several receptors and ion-channels are redox-modulated, the mitochondrial and redox changes which already manifest in neonates could contribute to the hyperexcitability and diminished synaptic plasticity in MeCP2 deficiency. Therefore, targeting cellular redox balance might qualify as a potential pharmacotherapeutic approach to improve neuronal network function in Rett syndrome.
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19. Hall SS, Hammond JL, Hirt M, Reiss AL. {{A ‘learning platform’ approach to outcome measurement in fragile X syndrome: a preliminary psychometric study}}. {J Intellect Disabil Res};2012 (Oct);56(10):947-960.
Background Clinical trials of medications to alleviate the cognitive and behavioural symptoms of individuals with fragile X syndrome (FXS) are now underway. However, there are few reliable, valid and/or sensitive outcome measures available that can be directly administered to individuals with FXS. The majority of assessments employed in clinical trials may be suboptimal for individuals with intellectual disability (ID) because they require face-to-face interaction with an examiner, taxing administration periods, and do not provide reinforcement and/or feedback during the test. We therefore examined the psychometric properties of a new computerised ‘learning platform’ approach to outcome measurement in FXS. Method A brief computerised test, incorporated into the Discrete Trial Trainer(c)- a commercially available software program designed for children with ID – was administered to 13 girls with FXS, 12 boys with FXS and 15 matched ID controls aged 10 to 23 years (mental age = 4 to 12 years). The software delivered automated contingent access to reinforcement, feedback, token delivery and prompting procedures (if necessary) on each trial to facilitate responding. The primary outcome measure was the participant’s learning rate, derived from the participant’s cumulative record of correct responses. Results All participants were able to complete the test and floor effects appeared to be minimal. Learning rates averaged approximately five correct responses per minute, ranging from one to eight correct responses per minute in each group. Test-retest reliability of the learning rates was 0.77 for girls with FXS, 0.90 for boys with FXS and 0.90 for matched ID controls. Concurrent validity with raw scores obtained on the Arithmetic subtest of the Wechsler Intelligence Scale for Children-III was 0.35 for girls with FXS, 0.80 for boys with FXS and 0.56 for matched ID controls. The learning rates were also highly sensitive to change, with effect sizes of 1.21, 0.89 and 1.47 in each group respectively following 15 to 20, 15-min sessions of intensive discrete trial training conducted over 1.5 days. Conclusions These results suggest that a learning platform approach to outcome measurement could provide investigators with a reliable, valid and highly sensitive measure to evaluate treatment efficacy, not only for individuals with FXS but also for individuals with other ID.
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20. Hani HB, Gonzalez-Barrero AM, Nadig AS. {{Children’s referential understanding of novel words and parent labeling behaviors: similarities across children with and without autism spectrum disorders}}. {J Child Lang};2012 (Oct 1):1-32.
ABSTRACT This study examined two facets of the use of social cues for early word learning in parent-child dyads, where children had an Autism Spectrum Disorder (ASD) or were typically developing. In Experiment 1, we investigated word learning and generalization by children with ASD (age range: 3;01-6;02) and typically developing children (age range: 1;02-4;09) who were matched on language ability. In Experiment 2, we examined verbal and non-verbal parental labeling behaviors. First, we found that both groups were similarly able to learn a novel label using social cues alone, and to generalize this label to other representations of the object. Children who utilized social cues for word learning had higher language levels. Second, we found that parental cues used to introduce object labels were strikingly similar across groups. Moreover, parents in both groups adapted labeling behavior to their child’s language level, though this surfaced in different ways across groups.
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21. Hasanzadeh E, Mohammadi MR, Ghanizadeh A, Rezazadeh SA, Tabrizi M, Rezaei F, Akhondzadeh S. {{A Double-Blind Placebo Controlled Trial of Ginkgo biloba Added to Risperidone in Patients with Autistic Disorders}}. {Child Psychiatry Hum Dev};2012 (Oct);43(5):674-682.
Ginkgo biloba has been reported to affect the neurotransmitter system and to have antioxidant properties that could impact the pathogenesis of Autism Spectrum Disorder. Based on these studies, we decided to assess the effectiveness of Ginkgo biloba extract (Ginko T.D., Tolidaru, Iran) as an adjunctive agent to risperidone in the treatment of autism. Forty-seven outpatients with a DSM-IV-TR diagnosis of autism ages between 4 and 12 years were assigned to this double blinded clinical trial and were randomly divided into two groups. One group received risperidone plus Ginko T.D and the other received risperidone plus placebo. The dose of risperidone was 1-3 mg/day and the dose of Ginko T.D. was 80 mg/day for patients under 30 kg and 120 mg/day for patients above 30 kg. Patients were assessed using Aberrant Behavior Checklist-Community (ABC-C) rating scale and the side effect check list every 2 weeks until the endpoint. None of the 5 subscales of ABC-C rating scale showed significant differences between the two groups. Incidents of side effects were not significantly different between the two groups. Adding Ginkgo biloba to risperidone did not affect the treatment outcome of ADs. Nevertheless, further observations are needed to confirm this result.
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22. Hock R, Ahmedani BK. {{Parent perceptions of autism severity: Exploring the social ecological context}}. {Disabil Health J};2012 (Oct);5(4):298-304.
BACKGROUND: Health professionals incorporate parent reports into the diagnosis and treatment of children with an autism spectrum disorder (ASD). Yet little is known about the contextual forces that may shape parents’ perceptions of their child. OBJECTIVES: The current study seeks to: 1) compare the social ecological contexts of parents of children with ASD and parents of non-autistic children, and 2) explore the social ecological influences on parents’ perception of their child’s ASD severity. METHODS: This study employed a cross-sectional analysis of data from the 2007-2008 National Survey of Children’s Health (NSCH) in the United States. Social ecological factors of interest included variables depicting family physical environment, family social environment, and individual parent characteristics. RESULTS: Results indicate that parents of children with ASD had increased odds of reporting poor neighborhood social capital, greater aggravation, more difficulty coping, and lower levels of relationship satisfaction and mental health. Parents’ perceptions of their child’s ASD severity were associated with several factors of their social ecological context. More severe parent-reported ASD was associated with aspects of the physical environment (rundown housing and garbage on the street), the social environment (parent relationship satisfaction) and individual parent characteristics (parent aggravation and mental health). CONCLUSIONS: Results suggest ways that professionals can contextualize parent reports to aid in the diagnosis and treatment of children with ASD. Findings also highlight a need for longitudinal research using well-characterized measures to determine the nature and direction of relationships between contextual factors and parents’ perceptions.
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23. Holton A, Weberling B, Clarke CE, Smith MJ. {{The blame frame: media attribution of culpability about the MMR-autism vaccination scare}}. {Health Commun};2012 (Oct);27(7):690-701.
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.
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24. Jordan I, Robertson D, Catani M, Craig M, Murphy D. {{Aripiprazole in the treatment of challenging behaviour in adults with autism spectrum disorder}}. {Psychopharmacology (Berl)};2012 (Oct);223(3):357-360.
BACKGROUND: Autism spectrum disorders (ASD) are associated with repetitive behaviours and often also with hyperactivity, aggression, self-injurious behaviour, irritability and lability of mood. There is emerging evidence that aripiprazole, an antipsychotic with partial agonist dopaminergic effect, may be effective in the treatment of these challenging behaviours. Nevertheless, there is little evidence for their efficacy in adults with ASD. OBJECTIVES: The aim of this article is to present preliminary data on the use of aripiprazole in the treatment of challenging behaviour in the setting of ASD. METHODS: We present a consecutive series of five inpatients of normal intelligence with challenging behaviour associated with ASD, diagnosed according to ICD-10 criteria, which was resistant to treatment with other medical and behavioural interventions and which was treated with aripiprazole. RESULTS: Four out of five patients were classified as « much improved » or « very much improved » according to the Clinical Global Impression-Improvement scale. Aripiprazole caused akathisia, at a dose of 30 mg in the one patient who was not classified as a responder but was otherwise well tolerated. CONCLUSIONS: This is the first case series of adults with ASD presenting with challenging behaviour who have been treated with aripiprazole. While the results are promising, controlled trials are required to confirm the findings.
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25. Kirchner JC, Schmitz F, Dziobek I. {{Brief report: stereotypes in autism revisited}}. {J Autism Dev Disord};2012 (Oct);42(10):2246-2251.
Autism involves core impairments in social cognition. Given that social learning underlies the acquisition of stereotypes, it was hypothesized that use of stereotypes would be reduced in autism. Contrary to this prediction, previous studies found the same use of stereotypes in autistic individuals as in controls. Measurement of stereotypes, however, can be biased by effects of social desirability, which previous studies did not account for. In the current study we therefore employed an implicit approach, using the Implicit Association Test (IAT), which assesses more automatic components of stereotypes, in nineteen individuals with autism and nineteen controls. The data suggest that while both groups do show the use of stereotypes to some extent, autistic individuals have less stereotypical attitudes against the investigated minority.
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26. Kirsten TB, Chaves-Kirsten GP, Chaible LM, Silva AC, Martins DO, Britto LR, Dagli ML, Torrao AS, Palermo-Neto J, Bernardi MM. {{Hypoactivity of the central dopaminergic system and autistic-like behavior induced by a single early prenatal exposure to lipopolysaccharide}}. {J Neurosci Res};2012 (Oct);90(10):1903-1912.
The aim of the present study was to evaluate the behavioral patterns associated with autism and the prevalence of these behaviors in males and females, to verify whether our model of lipopolysaccharide (LPS) administration represents an experimental model of autism. For this, we prenatally exposed Wistar rats to LPS (100 mug/kg, intraperitoneally, on gestational day 9.5), which mimics infection by gram-negative bacteria. Furthermore, because the exact mechanisms by which autism develops are still unknown, we investigated the neurological mechanisms that might underlie the behavioral alterations that were observed. Because we previously had demonstrated that prenatal LPS decreases striatal dopamine (DA) and metabolite levels, the striatal dopaminergic system (tyrosine hydroxylase [TH] and DA receptors D1a and D2) and glial cells (astrocytes and microglia) were analyzed by using immunohistochemistry, immunoblotting, and real-time PCR. Our results show that prenatal LPS exposure impaired communication (ultrasonic vocalizations) in male pups and learning and memory (T-maze spontaneous alternation) in male adults, as well as inducing repetitive/restricted behavior, but did not change social interactions in either infancy (play behavior) or adulthood in females. Moreover, although the expression of DA receptors was unchanged, the experimental animals exhibited reduced striatal TH levels, indicating that reduced DA synthesis impaired the striatal dopaminergic system. The expression of glial cell markers was not increased, which suggests that prenatal LPS did not induce permanent neuroinflammation in the striatum. Together with our previous finding of social impairments in males, the present findings demonstrate that prenatal LPS induced autism-like effects and also a hypoactivation of the dopaminergic system. (c) 2012 Wiley Periodicals, Inc.
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27. Kotagal S, Broomall E. {{Sleep in children with autism spectrum disorder}}. {Pediatr Neurol};2012 (Oct);47(4):242-251.
Children with autism spectrum disorder demonstrate an increased prevalence of difficulties with sleep initiation and maintenance. The consequences may include alterations in daytime behavior, memory, and learning in patients, and significant stress in caretakers. The dysregulation of melatonin synthesis, sensitization to environmental stimuli, behavioral insomnia syndromes, delayed sleep phase syndrome, rapid eye movement sleep behavior disorder, and comorbid anxiety, depression, and epilepsy comprise common etiologic factors. The clinical assessment of sleep problems in this population and a management algorithm are presented.
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28. Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN. {{Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders}}. {J Child Psychol Psychiatry};2012 (Oct);53(10):1072-1081.
Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Methods: Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean approximately 12 years; range 4-22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the Children’s Communication Checklist-2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Results: Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders.
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29. Lit L, Sharp FR, Bertoglio K, Stamova B, Ander BP, Sossong AD, Hendren RL. {{Gene expression in blood is associated with risperidone response in children with autism spectrum disorders}}. {Pharmacogenomics J};2012 (Oct);12(5):368-371.
Children with autism spectrum disorders (ASDs) often have severe behavioral problems. Not all children with these problems respond to atypical antipsychotic medications; therefore, we investigated whether peripheral blood gene expression before treatment with risperidone, an atypical antipsychotic, was associated with improvements in severe behavioral disturbances 8 weeks following risperidone treatment in 42 ASD subjects (age 112.7+/-51.2 months). Exon expression levels in blood before risperidone treatment were compared with pre-post risperidone change in Aberrant Behavior Checklist-Irritability (ABC-I) scores. Expression of exons within five genes was correlated with change in ABC-I scores across all risperidone-treated subjects: GBP6, RABL5, RNF213, NFKBID and RNF40 (alpha<0.001). RNF40 is located at 16p11.2, a region implicated in autism and schizophrenia. Thus, these genes expressed before treatment were associated with subsequent clinical response. Future studies will be needed to confirm these results and determine whether this expression profile is associated with risperidone response in other disorders, or alternative antipsychotic response within ASD.
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30. Maljaars J, Noens I, Scholte E, van Berckelaer-Onnes I. {{Language in low-functioning children with autistic disorder: differences between receptive and expressive skills and concurrent predictors of language}}. {J Autism Dev Disord};2012 (Oct);42(10):2181-2191.
Language profiles of children with autistic disorder and intellectual disability (n = 36) were significantly different from the comparison groups of children with intellectual disability (n = 26) and typically developing children (n = 34). The group low-functioning children with autistic disorder obtained a higher mean score on expressive than on receptive language, whereas both comparison groups showed the reverse pattern. Nonverbal mental age, joint attention, and symbolic understanding of pictures were analyzed in relation to concurrent receptive and expressive language abilities. In the group with autistic disorder and intellectual disability, symbol understanding and joint attention were most strongly related to language abilities. Nonverbal mental age was the most important predictor of language abilities in the comparison groups.
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31. Markoulakis R, Scharoun SM, Bryden PJ, Fletcher PC. {{An examination of handedness and footedness in children with high functioning autism and asperger syndrome}}. {J Autism Dev Disord};2012 (Oct);42(10):2192-2201.
Motor control deficits have been documented in children with high functioning autism and Asperger syndrome (HFA/AS), but the extent to which these disorders affect the children’s footedness must be delineated. Twelve typically developing (TD) children and 12 children with HFA/AS, ages 6-9 years, were recruited. Motor control skills were assessed through a variety of footedness tasks to determine location and nature of impairment, regarding motor dominance. Overall, greater inconsistencies in dominance arose in children with HFA/AS, through disparities in measures of preference. Results will have broader implications for understanding motor impairments in children with HFA/AS as determined by comparing performance on footedness tasks, as well as for the design of interventions to account for these deficits.
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32. Mattila ML, Jussila K, Linna SL, Kielinen M, Bloigu R, Kuusikko-Gauffin S, Joskitt L, Ebeling H, Hurtig T, Moilanen I. {{Validation of the Finnish Autism Spectrum Screening Questionnaire (ASSQ) for Clinical Settings and Total Population Screening}}. {J Autism Dev Disord};2012 (Oct);42(10):2162-2180.
We assessed the validity and determined cut-off scores for the Finnish Autism Spectrum Screening Questionnaire (ASSQ). A population sample of 8-year-old children (n = 4,408) was rated via the ASSQ by parents and/or teachers, and a subgroup of 104 children was examined via structured interview, semi-structured observation, IQ measurement, school observation, and medical records. Autism spectrum disorders (ASDs) were diagnosed following DSM-IV-TR criteria. A search for hospital-registered ASDs was performed. For Finnish higher-functioning primary school-aged, 7- to 12-year-olds, the optimal cut-off score was 30 in clinical settings and 28 in total population screening using summed ASSQ scores of parents’ and teachers’ ratings. Determining appropriate cut-off scores in ASD screening in different languages and in different cultures is of utmost importance.
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33. Mazzone L, Vassena L, Ruta L, Mugno D, Galesi O, Fichera M. {{Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome}}. {J Autism Dev Disord};2012 (Oct);42(10):2202-2207.
Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 –> qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time.
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34. Michel M, Schmidt MJ, Mirnics K. {{Immune system gene dysregulation in autism and schizophrenia}}. {Dev Neurobiol};2012 (Oct);72(10):1277-1287.
Gene*environment interactions play critical roles in the emergence of autism and schizophrenia pathophysiology. In both disorders, recent genetic association studies have provided evidence for disease-linked variation in immune system genes and postmortem gene expression studies have shown extensive chronic immune abnormalities in brains of diseased subjects. Furthermore, peripheral biomarker studies revealed that both innate and adaptive immune systems are dysregulated. In both disorders symptoms of the disease correlate with the immune system dysfunction; yet, in autism this process appears to be chronic and sustained, while in schizophrenia it is exacerbated during acute episodes. Furthermore, since immune abnormalities endure into adulthood and anti-inflammatory agents appear to be beneficial, it is likely that these immune changes actively contribute to disease symptoms. Modeling these changes in animals provided further evidence that prenatal maternal immune activation alters neurodevelopment and leads to behavioral changes that are relevant for autism and schizophrenia. The converging evidence strongly argues that neurodevelopmental immune insults and genetic background critically interact and result in increased risk for either autism or schizophrenia. Further research in these areas may improve prenatal health screening in genetically at-risk families and may also lead to new preventive and/or therapeutic strategies. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012.
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35. Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME. {{Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder}}. {Hum Mol Genet};2012 (Oct 1);21(19):4356-4364.
Autism spectrum disorder (ASD) is a heterogeneous disorder with substantial heritability, most of which is unexplained. ASD has a population prevalence of one percent and affects four times as many males as females. Patients with fragile X E (FRAXE) intellectual disability, which is caused by a silencing of the X-linked gene AFF2, display a number of ASD-like phenotypes. Duplications and deletions at the AFF2 locus have also been reported in cases with moderate intellectual disability and ASD. We hypothesized that other rare X-linked sequence variants at the AFF2 locus might contribute to ASD. We sequenced the AFF2 genomic region in 202 male ASD probands and found that 2.5% of males sequenced had missense mutations at highly conserved evolutionary sites. When compared with the frequency of missense mutations in 5545 X chromosomes from unaffected controls, we saw a statistically significant enrichment in patients with ASD (OR: 4.9; P < 0.014). In addition, we identified rare AFF2 3′ UTR variants at conserved sites which alter gene expression in a luciferase assay. These data suggest that rare variation in AFF2 may be a previously unrecognized ASD susceptibility locus and may help explain some of the male excess of ASD.
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36. Needleman LA, McAllister AK. {{The major histocompatibility complex and autism spectrum disorder}}. {Dev Neurobiol};2012 (Oct);72(10):1288-1301.
Autism spectrum disorder (ASD) is a complex disorder that appears to be caused by interactions between genetic changes and environmental insults during early development. A wide range of factors have been linked to the onset of ASD, but recently both genetic associations and environmental factors point to a central role for immune-related genes and immune responses to environmental stimuli. Specifically, many of the proteins encoded by the major histocompatibility complex (MHC) play a vital role in the formation, refinement, maintenance, and plasticity of the brain. Manipulations of levels of MHC molecules have illustrated how disrupted MHC signaling can significantly alter brain connectivity and function. Thus, an emerging hypothesis in our field is that disruptions in MHC expression in the developing brain caused by mutations and/or immune dysregulation may contribute to the altered brain connectivity and function characteristic of ASD. This review provides an overview of the structure and function of the three classes of MHC molecules in the immune system, healthy brain, and their possible involvement in ASD. (c) 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2012.
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37. Nightingale S. {{Autism spectrum disorders}}. {Nat Rev Drug Discov};2012 (Oct);11(10):745-746.
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38. Ozonoff S. {{Editorial Perspective: Autism Spectrum Disorders in DSM-5 – An historical perspective and the need for change}}. {J Child Psychol Psychiatry};2012 (Oct);53(10):1092-1094.
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39. Pellicano E, Burr D. {{When the world becomes ‘too real’: a Bayesian explanation of autistic perception}}. {Trends Cogn Sci};2012 (Oct);16(10):504-510.
Perceptual experience is influenced both by incoming sensory information and prior knowledge about the world, a concept recently formalised within Bayesian decision theory. We propose that Bayesian models can be applied to autism – a neurodevelopmental condition with atypicalities in sensation and perception – to pinpoint fundamental differences in perceptual mechanisms. We suggest specifically that attenuated Bayesian priors – ‘hypo-priors’ – may be responsible for the unique perceptual experience of autistic people, leading to a tendency to perceive the world more accurately rather than modulated by prior experience. In this account, we consider how hypo-priors might explain key features of autism – the broad range of sensory and other non-social atypicalities – in addition to the phenomenological differences in autistic perception.
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40. Ray-Subramanian CE, Ellis Weismer S. {{Receptive and expressive language as predictors of restricted and repetitive behaviors in young children with autism spectrum disorders}}. {J Autism Dev Disord};2012 (Oct);42(10):2113-2120.
This study examined whether language skills and nonverbal cognitive skills were associated with clinician-observed restricted and repetitive behaviors (RRBs) in a sample of 115 children with autism spectrum disorders (ASD) at ages 2 and 3. By age 3, RRBs were significantly negatively correlated with receptive and expressive language, as well as nonverbal cognitive skills. Increases in receptive and expressive language from age 2 to 3 significantly predicted decreases in RRBs, controlling for age in months, time between visits, and gains in nonverbal cognitive skills. This study contributes to the limited research that has examined early patterns and predictors of RRBs in young children with ASD.
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41. Reed P, Osborne LA. {{Diagnostic practice and its impacts on parental health and child behaviour problems in autism spectrum disorders}}. {Arch Dis Child};2012 (Oct);97(10):927-931.
Obtaining a diagnosis is a key point in developing a treatment plan for children with autism spectrum disorders (ASD), but little attention has been paid to the impacts of diagnostic practices on families, and the consequent impact on child outcomes. Parents’ experiences during ASD diagnosis for their child can be stressful, and such stress can lead to parental ill health, child-behaviour problems, and poorer child outcomes following treatment. Thus, the conduct of diagnosis may be of particular importance for subsequent child outcomes and parental health. A lack of knowledge regarding best diagnostic practice may ultimately impair treatment efficacy and lead to increased health- and economic-burdens. Given this, the current article examines recent work concerning: parental experiences of ASD diagnoses; general health and psychological functioning of parents of newly-diagnosed children with ASD; aspects of the diagnostic process impacting on parental functioning; and the relationship of parental functioning to child outcomes. These are placed into the context of diagnostic best practice for ASD, and understanding the complex relationship between ASD and family variables.
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42. Ro M, Park J, Nam M, Bang HJ, Yang J, Choi KS, Kim SK, Chung JH, Kwack K. {{Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a korean population}}. {J Child Neurol};2012 (Oct);27(10):1270-1275.
Autism spectrum disorder is a neurodevelopmental disorder characterized by deficits in social communication, impaired reciprocal social interaction, and repetitive patterns of behaviors or interests. Although the cause of autism spectrum disorder remains elusive, the present study identified peroxisomal biogenesis factor 7 (PEX7) as a gene associated with autism spectrum disorder, and this association was examined in a Korean population. PEX7 encodes a cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into the peroxisome. PEX7 defects are associated with rhizomelic chondrodysplasia punctata type 1 and Refsum disease. Mutations in PEX7 are related to a variety of mild to severe clinical symptoms, including mental retardation. The analysis of 9 intronic single nucleotide polymorphisms in 214 patients with autism spectrum disorder and 258 controls revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05).
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43. Rogers SJ, Estes A, Lord C, Vismara L, Winter J, Fitzpatrick A, Guo M, Dawson G. {{Effects of a Brief Early Start Denver Model (ESDM)-Based Parent Intervention on Toddlers at Risk for Autism Spectrum Disorders: A Randomized Controlled Trial}}. {J Am Acad Child Adolesc Psychiatry};2012 (Oct);51(10):1052-1065.
OBJECTIVE: This study was carried out to examine the efficacy of a 12-week, low-intensity (1-hour/wk of therapist contact), parent-delivered intervention for toddlers at risk for autism spectrum disorders (ASD) aged 14 to 24 months and their families. METHOD: A randomized controlled trial involving 98 children and families was carried out in three different sites investigating the efficacy of a parent delivery of the Early Start Denver Model (P-ESDM), which fosters parental use of a child-centered responsive interaction style that embeds many teaching opportunities into play, compared to community treatment as usual. Assessments were completed at baseline and 12 weeks later, immediately after the end of parent coaching sessions. RESULTS: There was no effect of group assignment on parent-child interaction characteristics or on any child outcomes. Both groups of parents improved interaction skills, and both groups of children demonstrated progress. Parents receiving P-ESDM demonstrated significantly stronger working alliances with their therapists than did the community group. Children in the community group received significantly more intervention hours than those in the P-ESDM group. For the group as a whole, both younger child age at the start of intervention and a greater number of intervention hours were positively related to the degree of improvement in children’s behavior for most variables. CONCLUSIONS: Parent-implemented intervention studies for early ASD thus far have not demonstrated the large effects seen in intensive-treatment studies. Evidence that both younger age and more intervention hours positively affect developmental rates has implications for clinical practice, service delivery, and public policy.
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44. Saunders JA, Gandal MJ, Roberts TP, Siegel SJ. {{NMDA antagonist MK801 recreates auditory electrophysiology disruption present in autism and other neurodevelopmental disorders}}. {Behav Brain Res};2012 (Oct 1);234(2):233-237.
Autism is a highly disabling neurodevelopmental disorder characterized by social deficits, language impairment, and repetitive behaviors. There are few effective biological treatments for this disorder, partly due to the lack of translational biomarkers. However, recent data suggest that autism has reliable electrophysiological endophenotypes, along with evidence that some deficits may be caused by NMDA receptor (NMDAR) dysfunction. Similarly, the NMDAR antagonist MK801 has been used in behavioral animal models of autism. Since MK801 has also been used as a model of schizophrenia, this paper examines the independent and overlapping ways in which MK801 recreates the electrophysiogical changes present in both diseases. Mouse EEG was recorded in response to auditory stimuli after either vehicle or MK801 and the dose-response relationship for each measure was determined. ERP component amplitude and latency analysis was performed along with time-frequency analysis of gamma frequency inter-trial coherence and evoked power. Evoked gamma power and ITC were decreased by MK801 at the highest dose. P1, N1 latency and gamma baseline power were increased in dose dependent fashion following MK801. There were no amplitude changes in P1 or N1. MK801 caused alterations in evoked gamma activity, gamma ITC, gamma baseline power, P1 and N1 latency similar to findings in autism. These data provide evidence indicating that NMDAR dysfunction may contribute to deficits specific to autism and some that overlap with other disorders such as schizophrenia. Such observations could be important for developing novel therapeutics, as electrophysiological endophenotypes associate with functional measures and may provide early biomarkers for efficacy in clinical trials.
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45. Schendel DE, Diguiseppi C, Croen LA, Fallin MD, Reed PL, Sc
