Pubmed du 10/05/17

mercredi 10 mai 2017

1. Al-Askar M, Bhat RS, Selim M, Al-Ayadhi L, El-Ansary A. Postnatal treatment using curcumin supplements to amend the damage in VPA-induced rodent models of autism. BMC Complement Altern Med ;2017 (May 10) ;17(1):259.

BACKGROUND : Valproic acid (VPA) is used as a first-line antiepileptic agent and is undergoing clinical trials for use as a treatment for many disorders. Mothers undergoing VPA treatment during early pregnancy reportedly show increased rates of autism among their offspring. The benefits of curcumin supplementation were investigated using an animal model of VPA-induced autism. METHODS : The study was performed using a rodent model of autism by exposing rat fetuses to valproic acid (VPA) on the 12.5th day of gestation. At 7 days from their birth, the animals were supplemented with a specific dose of curcumin. Forty neonatal male Western Albino rats were divided into four groups. Rats in group I received only phosphate-buffered saline, rats in group II were the prenatal VPA exposure newborns, rats in group III underwent prenatal VPA exposure supplemented with postnatal curcumin, and rats in group IV were given only postnatal curcumin supplements. RESULTS : VPA rats exhibited delayed maturation and lower body and brain weights with numerous signs of brain toxicity, such as depletion of IFN-gamma, serotonin, glutamine, reduced glutathione, glutathione S-transferase, lipid peroxidase with an increase in CYP450, IL-6, glutamate, and oxidized glutathione. A curcumin supplement moderately corrected these dysfunctions and was especially noticeable in improving delayed maturation and abnormal weight. CONCLUSIONS : Curcumin plays a significant therapeutic role in attenuating brain damage that has been induced by prenatal VPA exposure in rats ; however, its therapeutic role as a dietary supplement still must be certified for use in humans.

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2. Arun P. Prevalence of autism spectrum disorder in semiurban community in South India. Ann Epidemiol ;2017 (Apr) ;27(4):296.

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3. Boster JB, McCarthy JW. Designing augmentative and alternative communication applications : the results of focus groups with speech-language pathologists and parents of children with autism spectrum disorder. Disabil Rehabil Assist Technol ;2017 (May 10):1-13.

PURPOSE : The purpose of this study was to gain insight from speech-language pathologists (SLPs) and parents of children with autism spectrum disorder (ASD) regarding appealing features of augmentative and alternative communication (AAC) applications. METHOD : Two separate 1-hour focus groups were conducted with 8 SLPs and 5 parents of children with ASD to identify appealing design features of AAC Apps, their benefits and potential concerns. Participants were shown novel interface designs for communication mode, play mode and incentive systems. Participants responded to poll questions and provided benefits and drawbacks of the features as part of structured discussion. RESULTS : SLPs and parents identified a range of appealing features in communication mode (customization, animation and colour-coding) as well as in play mode (games and videos). SLPs preferred interfaces that supported motor planning and instruction while parents preferred those features such as character assistants that would appeal to their child. Overall SLPs and parents agreed on features for future AAC Apps. CONCLUSION : SLPs and parents have valuable input in regards to future AAC app design informed by their experiences with children with ASD. Both groups are key stakeholders in the design process and should be included in future design and research endeavors. Implications for Rehabilitation AAC applications for the iPad are often designed based on previous devices without consideration of new features. Ensuring the design of new interfaces are appealing and beneficial for children with ASD can potentially further support their communication. This study demonstrates how key stakeholders in AAC including speech language pathologists and parents can provide information to support the development of future AAC interface designs. Key stakeholders may be an untapped resource in the development of future AAC interfaces for children with ASD.

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4. Chinawa JM, Manyike PC, Aniwada EC, Chinawa AT, Obu HA, Odetunde OI, Nwokocha AR, Ibekwe RR. Prevalence and socioeconomic correlates of autism among children attending primary and secondary schools in south east Nigeria. Afr Health Sci ;2016 (Dec) ;16(4):936-942.

OBJECTIVES : The objectives of the study were to determine the prevalence and socio-economic determinants of autism among children attending primary and secondary schools in South East, Nigeria. METHODS : This was a cross-sectional study that assessed the prevalence and socio-economic pattern of childhood autism among children attending primary and secondary schools in Enugu and Ebonyi states, South East Nigeria. The questionnaire was adapted from American Psychiatric Association : Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR, 2000). The study was carried out between June and October, 2014. The schools were selected by listing all the mixed schools in the urban and semi- urban areas by simple random sampling. RESULTS : A total of 721 subjects completed the questionnaire. The age of respondents ranged between 3 and 18 years, with mean age of 12.71 and standard deviation of 3.03 years. Twenty one children fulfilled the criteria for autism giving a prevalence of 2.9%. There is a significant association between age in categories (fishers exact test, p = 0.013) and social class (p=0.033). CONCLUSION : The prevalence of autism was 2.9% ; and the socio-economic characteristics of childhood autism in South East Nigeria are similar to those in other parts of the world.

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5. Coci EG, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, Lucke T, Liehr T. Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy. Cytogenet Genome Res ;2017 (May 10)

Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10 ;22)(q26.13 ;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10 ;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.

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6. Conaughton RJ, Donovan CL, March S. Efficacy of an internet-based CBT program for children with comorbid High Functioning Autism Spectrum Disorder and anxiety : A randomised controlled trial. J Affect Disord ;2017 (Apr 26) ;218:260-268.

BACKGROUND : All trials conducted to date on BRAVE-ONLINE for youth anxiety disorders have excluded children with High Functioning Autism Spectrum Disorder (HFASD) and therefore it is unknown whether these programs might be beneficial to HFASD children. The aim of this study was to evaluate the efficacy of BRAVE-ONLINE in HFASD children with an anxiety disorder. METHODS : Forty-two HFASD children, aged 8-12 years, with an anxiety disorder, and their parents, were randomly assigned to either the BRAVE-ONLINE condition (NET) or a waitlist control (WLC). Diagnostic interviews and parent/child questionnaires were completed at pre-treatment, post-treatment and 3-month follow-up. RESULTS : At post- assessment, compared to children in the WLC condition, children in the NET condition demonstrated a significantly greater reduction in number of anxiety diagnoses, clinical severity of diagnosis, and self and parent reported anxiety symptoms, as well as significantly greater increases in overall functioning. However, loss of primary diagnosis in this sample was lower than in previous studies. LIMITATIONS : The small sample size, coupled with attrition rates, makes it difficult to generalise the findings of the study to HFASD population and to conduct analyses regarding mediators, moderators and predictors of outcomes. CONCLUSIONS : The BRAVE-ONLINE program may be useful in reducing anxiety symptoms in HFASD children, although the effects are less strong than those found in neurotypical children for a variety of reasons.

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7. Constable PA, Ring M, Gaigg SB, Bowler DM. Problem-solving styles in autism spectrum disorder and the development of higher cognitive functions. Autism ;2017 (May 01):1362361317691044.

The Vygotsky Blocks Test assesses problem-solving styles within a theoretical framework for the development of higher mental processes devised by Vygotsky. Because both the theory and the associated test situate cognitive development within the child’s social and linguistic context, they address conceptual issues around the developmental relation between language and thought that are pertinent to development in autism. Our aim was to document the performance of adults with autism spectrum disorder on the Vygotsky Blocks Test, and our results showed that they made more errors than the typically developing participants and that these errors correlated with performance IQ. The autism spectrum disorder group also required more cues than the typically developing group to discern the conceptual structure of the blocks, a pattern that correlated with Autism Diagnostic Observational Schedule-Communication and Imagination/Creativity sub-scales. When asked to categorize the blocks in new ways, the autism spectrum disorder participants developed fewer principles on which to base new categorizations, which in contrast to the typically developing group correlated with verbal IQ and with the Imagination/Creativity sub-scale of the ADOS. These results are in line with a number of existing findings in the autism spectrum disorder literature and confirm that conceptualization in autism spectrum disorder seems to rely more on non-verbal and less on imaginative processes than in typically developing individuals. The findings represent first steps to the possibility of outlining a testable account of psychological development in autism spectrum disorder that integrates verbal, non-verbal and social factors into the transition from elementary to higher level processes.

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8. Daniels AM, Como A, Herguner S, Kostadinova K, Stosic J, Shih A. Autism in Southeast Europe : A Survey of Caregivers of Children with Autism Spectrum Disorders. J Autism Dev Disord ;2017 (May 08)

The aim of this study was to understand the diagnostic, service and lived experiences of families affected by ASD in Southeast Europe. A total of 758 caregivers from Albania, Bulgaria, Croatia and Turkey were surveyed from 2013 to 2015 about characteristics of the child with ASD ; service encounters ; and caregiver perceptions. The average age at first concern was 24.4 months (SD 11.8) and at diagnosis, 40.0 months (SD 19.0). Psychiatrists were the most common diagnostician ; most children received some ASD-related service, most frequently speech and language therapy. Caregivers endorsed challenges in access to care and perceived stigma. Despite country differences, findings relative to age at first concern, disparities in access and service utilization, and stigma speak to common regional needs.

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9. Djemal R, AlSharabi K, Ibrahim S, Alsuwailem A. EEG-Based Computer Aided Diagnosis of Autism Spectrum Disorder Using Wavelet, Entropy, and ANN. Biomed Res Int ;2017 ;2017:9816591.

Autism spectrum disorder (ASD) is a type of neurodevelopmental disorder with core impairments in the social relationships, communication, imagination, or flexibility of thought and restricted repertoire of activity and interest. In this work, a new computer aided diagnosis (CAD) of autism based on electroencephalography (EEG) signal analysis is investigated. The proposed method is based on discrete wavelet transform (DWT), entropy (En), and artificial neural network (ANN). DWT is used to decompose EEG signals into approximation and details coefficients to obtain EEG subbands. The feature vector is constructed by computing Shannon entropy values from each EEG subband. ANN classifies the corresponding EEG signal into normal or autistic based on the extracted features. The experimental results show the effectiveness of the proposed method for assisting autism diagnosis. A receiver operating characteristic (ROC) curve metric is used to quantify the performance of the proposed method. The proposed method obtained promising results tested using real dataset provided by King Abdulaziz Hospital, Jeddah, Saudi Arabia.

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10. Hosseinpour M, Mashayekhi F, Bidabadi E, Salehi Z. Neuropilin-2 rs849563 gene variations and susceptibility to autism in Iranian population : A case-control study. Metab Brain Dis ;2017 (May 08)

Autism spectrum disorders (ASD) are neurodevelopmental disruptions usually diagnosed in the first three years of child’s life that characterized by some impairments in verbal and nonverbal communication, problems in social interactions and repetitive behaviors. The neuropilin-2 (NRP2) gene has been shown to both guide axons and control neuronal migration in the central nervous system (CNS). In this study the association between the NRP2 gene and autism using a cohort of 120 Iranian children (50 cases with autism and 70 control cases) was analyzed. Single nucleotide polymorphism (SNP) was genotyped by the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analyses. There was significant difference between the genotype and allele frequency between control and patient groups (P = 0.003 and P = 0.01, respectively). The prevalence of genotype frequencies of TT and TG in autistic children were 40% and 60%, respectively, while in controls were 68.5% and 31.5%, respectively. The heterozyote TG was associated with an increased risk of autism compared with TT genotype (OR = 3.72, 95%CI = 1.53-6.95, P = 0.02). The allele frequencies of T and G in autistic children were 78.5% and 21.4%, respectively and in controls were 84.2% and 15.7%, respectively. The NRP2 G allele conferred a 2.29-fold increased risk to autism relative to the T allele (OR = 2.29, 95%CI = 1.23-4.29, P = 0.009). The results of this study showed that there is a significant association between rs849563 polymorphism and autism in the studied population. However in order to obtain a definitive conclusion larger studies with more samples are required to confirm the results of this study.

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11. Hu CC, Li Y, Zhou BR, Liu CX, Li CY, Zhang Y, Xu Q, Xu X. [Reducing maternal parenting stress of children with autism spectrum disorder : father’s involvement]. Zhonghua Er Ke Za Zhi ;2017 (May 04) ;55(5):355-359.

Objective : To explore the relationship between fathers’ nursing time and maternal parenting stress of children with autism spectrum disorder(ASD). Method : Mothers of 98 ASD children who were first diagnosed in the department of Child Health Care, Children’s Hospital of Fudan University during June 2015 to January 2016 were included in the ASD group, with mothers of 92 typical children from a Community Maternal and Child Health Hospital and a kindergarten in the control group. The evaluation of parenting stress, parents’ nursing time and other related factors were cross-sectionally analyzed. Interview was conducted with the following tools : Parental Stress Index-Short Form(PSI-SF)for maternal parenting stress, and self-made General Parenting Information Questionnaire for nursing time of both parents and other related factors. The relationships were analyzed by Multiple Linear Regression analysis and Wilcoxon Rank-Sum test. Result : Maternal parenting stress of ASD children had a significant negative correlation with father’s nursing time in total score of parenting stress, PCDI domain and PD domain (t=-2.76, -2.98, -2.79 ; P=0.007, 0.004, 0.006), within which PD domain also included family annual income and mothers’ nursing time (R(2)=0.22, 0.24, 0.25) ; while no such correlation was found in control group in terms of father’s nursing time(P=0.22, 0.42, 0.06). Wilcoxon Rank-Sum test showed that in 62 (63.3%) double-income ASD families and 72(78.3%) double-income typical families, there were significant differences between ASD fathers’ and ASD mothers’and typical fathers’nursing time(2.0(0.5, 2.1)vs. 3.5(2.4, 6.0)vs. 3.0(2.0, 4.7)h, t=-86.32-49.65, all P<0.01). Conclusion : Lack of fathers’ involvements was common in ASD children’s families. Increasing these fathers’ nursing time, as well as their enthusiasm and initiative in the family intervention could relieve maternal parenting stress and improve the intervention pattern of ASD children.

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12. Jonsdottir U, Lang JE. How does autism spectrum disorder affect the risk and severity of childhood asthma ?. Ann Allergy Asthma Immunol ;2017 (May) ;118(5):570-576.

BACKGROUND : Autism spectrum disorder (ASD) and asthma are among the most common chronic disorders in childhood. Both are associated with altered immune regulation and share several risk factors. The effects of ASD on risk for later asthma and asthma severity remain unclear. OBJECTIVE : To determine whether ASD in children increases the risk of incident asthma and worsens asthma severity. METHODS : We performed 2 distinct analytic designs (case-control and retrospective longitudinal cohort) using a multistate electronic health records database to assess the odds of new asthma and asthma severity among children with ASD. In both designs, children with ASD were matched with children without ASD according to sex, age, race, ethnicity, location, and insurance status. Pulmonary function, controller medication prescriptions, asthma exacerbations, and asthma-related hospitalizations were collected. The effects of ASD on asthma risk and severity were assessed using multivariable linear and logistic regression. RESULTS : Among children with asthma, ASD was associated with reduced exacerbations (odds ratio [OR], 0.71 ; 95% confidence interval [CI], 0.54-0.92), better forced expiratory volume in 1 second/forced vital capacity ratio (0.876 vs 0.841, P < .001), and lower odds of airflow obstruction (OR, 0.53 ; 95% CI, 0.31-0.90) but had higher odds of asthma controller prescription (OR, 2.18 ; 95% CI, 1.62-2.93). In a longitudinal analysis of children without asthma, ASD was found to be protective for new asthma (OR, 0.44 ; 95% CI, 0.26-0.74). CONCLUSION : Among children with asthma, concomitant ASD is associated with better asthma-related outcomes but a higher controller treatment burden. In addition, our data did not support ASD as a risk factor for incident asthma.

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13. Kaku SM, Basheer S, Venkatasubramanian G, Bharath RD, Girimaji SC, Srinath S. Social experiential deprivation in autism spectrum disorders : A possible prognostic factor ?. Asian J Psychiatr ;2017 (Apr) ;26:44-45.

Autism spectrum disorders (ASD) are well known to be influenced by various environmental factors. Among these influencers, social experiential deprivation (SED) in infancy is one of them which is not well reported. We explored factors contributing to SED in 11 young children diagnosed to have ASD and compared them to 24 children without SED also having ASD. Intervention mainly addressing factors causing SED for 6 months demonstrated that children with SED had a better outcome at follow up. Could SED be a possible prognostic factor in children with ASD ?

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14. Lemonnier E, Villeneuve N, Sonie S, Serret S, Rosier A, Roue M, Brosset P, Viellard M, Bernoux D, Rondeau S, Thummler S, Ravel D, Ben-Ari Y. Effects of bumetanide on neurobehavioral function in children and adolescents with autism spectrum disorders. Transl Psychiatry ;2017 (May 09) ;7(5):e1124.

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15. Li H, Li Y, Liu Y, Zhao Z. Blood Mercury, Arsenic, Cadmium, and Lead in Children with Autism Spectrum Disorder. Biol Trace Elem Res ;2017 (May 08)

Environmental factors have been implicated in the etiology of autism spectrum disorder (ASD) ; however, the role of heavy metals has not been fully defined. This study investigated whether blood levels of mercury, arsenic, cadmium, and lead of children with ASD significantly differ from those of age- and sex-matched controls. One hundred eighty unrelated children with ASD and 184 healthy controls were recruited. Data showed that the children with ASD had significantly (p < 0.001) higher levels of mercury and arsenic and a lower level of cadmium. The levels of lead did not differ significantly between the groups. The results of this study are consistent with numerous previous studies, supporting an important role for heavy metal exposure, particularly mercury, in the etiology of ASD. It is desirable to continue future research into the relationship between ASD and heavy metal exposure.

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16. Noroozi R, Ghafouri-Fard S, Omrani MD, Habibi M, Sayad A, Taheri M. Association study of the vesicular monoamine transporter 1 (VMAT1) gene with autism in an Iranian population. Gene ;2017 (May 02)

Autism Spectrum Disorders (ASD) (MIM 209850) are a group of neurodevelopmental disorders distinguished by destructed social interaction and communication abilities along with peculiar repetitive behavior. Several genetic loci have been linked to this disorder. Vesicular monoamine transporter 1 (VMAT1/SLC18A1) is an attractive candidate gene for psychiatric disorders because of its participation in regulation monoamines. In the present case-control study, we evaluated the link between three non-synonymous single nucleotide polymorphisms (SNPs) (rs2270641 [Pro4Thr], rs2270637 [Thr98Ser] and rs1390938 [Thr136Ile]) and one intronic SNP (rs2279709) across the VMAT1 gene and ASD in a group of Iranian patients. Allele frequency analyses showed significant over-presentation of rs1390938-G allele in cases compared with controls (P<0.001). The analysis under different genetic models showed that the AA genotype of the rs1390938 was protective against ASD under dominant and recessive models. The rs2270641 SNP was associated with ASD risk only in over-dominant model. Other SNPs showed no significant difference in allele or genotype frequencies between two groups. Haplotype analysis revealed that C A T T and C A T G haplotypes (rs2270637, rs1390938, rs2279709 and rs2270641 respectively) have a protective effect against ASD. Consequently, the functional rs1390938 SNP in VMAT1 is associated with ASD in Iranian population. Considering the role of VMAT1 in regulation of monoamines, the dysregulated expression of this protein during early stages of brain development might be implicated in ASD.

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17. Qin Y, Chen Y, Yang J, Wu F, Zhao L, Yang F, Xue P, Shi Z, Song T, Huang C. Serum glycopattern and Maackia amurensis lectin-II binding glycoproteins in autism spectrum disorder. Sci Rep ;2017 (May 09) ;7:46041.

The pathophysiology of autistic spectrum disorder (ASD) is not fully understood and there are no diagnostic or predictive biomarkers. Glycosylation modified as many as 70% of all human proteins can sensitively reflect various pathological changes. However, little is known about the alterations of glycosylation and glycoproteins in ASD. In this study, serum glycopattern and the maackia amurensis lectin-II binding glycoproteins (MBGs) in 65 children with ASD and 65 age-matched typically developing (TD) children were compared by using lectin microarrays and lectin-magnetic particle conjugate-assisted LC-MS/MS analyses. Expression of Siaalpha2-3 Gal/GalNAc was significantly increased in pooled (fold change = 3.33, p < 0.001) and individual (p = 0.009) serum samples from ASD versus TD children. A total of 194 and 217 MGBs were identified from TD and ASD sera respectively, of which 74 proteins were specially identified or up-regulated in ASD. Bioinformatic analysis revealed abnormal complement cascade and aberrant regulation of response-to-stimulus that might be novel makers or markers for ASD. Moreover, increase of APOD alpha2-3 sialoglycosylation could sensitively and specifically distinguish ASD samples from TD samples (AUC is 0.88). In conclusion, alteration of MBGs expression and their sialoglycosylation may serve as potential biomarkers for diagnosis of ASD, and provide useful information for investigations into the pathogenesis of ASD.

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18. Remington A, Fairnie J. A sound advantage : Increased auditory capacity in autism. Cognition ;2017 (Apr 27)

Autism Spectrum Disorder (ASD) has an intriguing auditory processing profile. Individuals show enhanced pitch discrimination, yet often find seemingly innocuous sounds distressing. This study used two behavioural experiments to examine whether an increased capacity for processing sounds in ASD could underlie both the difficulties and enhanced abilities found in the auditory domain. Autistic and non-autistic young adults performed a set of auditory detection and identification tasks designed to tax processing capacity and establish the extent of perceptual capacity in each population. Tasks were constructed to highlight both the benefits and disadvantages of increased capacity. Autistic people were better at detecting additional unexpected and expected sounds (increased distraction and superior performance respectively). This suggests that they have increased auditory perceptual capacity relative to non-autistic people. This increased capacity may offer an explanation for the auditory superiorities seen in autism (e.g. heightened pitch detection). Somewhat counter-intuitively, this same ’skill’ could result in the sensory overload that is often reported - which subsequently can interfere with social communication. Reframing autistic perceptual processing in terms of increased capacity, rather than a filtering deficit or inability to maintain focus, increases our understanding of this complex condition, and has important practical implications that could be used to develop intervention programs to minimise the distress that is often seen in response to sensory stimuli.

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19. Shelton AL, Cornish KM, Godler D, Bui QM, Kolbe S, Fielding J. White matter microstructure, cognition, and molecular markers in fragile X premutation females. Neurology ;2017 (May 05)

OBJECTIVE : To examine the interrelationships between fragile X mental retardation 1 (FMR1) mRNA and the FMR1 exon 1/intron 1 boundary methylation, white matter microstructure, and executive function, in women with a FMR1 premutation expansion (PM ; 55-199 CGG repeats) and controls (CGG < 44). METHODS : Twenty women with PM without fragile X-associated tremor/ataxia syndrome (FXTAS) and 20 control women between 22 and 54 years of age completed this study. FMR1 mRNA and methylation levels for 9 CpG sites within the FMR1 exon 1/intron 1 boundary from peripheral blood samples were analyzed. To measure white matter microstructure, diffusion-weighted imaging was used, from which fractional anisotropy (FA) and mean diffusivity (MD) values from anatomic regions within the corpus callosum and cerebellar peduncles were extracted. Executive function was assessed across a range of tasks. RESULTS : No differences were revealed in white matter microstructure between women with PM and controls. However, we reveal that for women with PM (but not controls), higher FMR1 mRNA correlated with lower MD values within the middle cerebellar peduncle and Paced Auditory Serial Addition Test scores, higher methylation of the FMR1 exon 1/intron 1 boundary correlated with lower MD within the inferior and middle cerebellar peduncles and longer prosaccade latencies, and higher FA values within the corpus callosum and cerebellar peduncle regions corresponded to superior executive function. CONCLUSIONS : We provide evidence linking white matter microstructure to executive dysfunction and elevated FMR1 mRNA and FMR1 exon 1/intron 1 boundary methylation in women with PM without FXTAS. This suggests that the FXTAS phenotype may not be distinct but may form part of a spectrum of PM involvement.

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20. Shepherd D, Landon J, Goedeke S. Symptom severity, caregiver stress and intervention helpfulness assessed using ratings from parents caring for a child with autism. Autism ;2017 (May 01):1362361316688869.

This exploratory study assessed the relationships between autism spectrum disorder symptoms, caregiver stress and intervention helpfulness, using parent ( n = 182) ratings. Advocacy and intervention-related tasks were rated more stressful than support tasks (e.g. toileting, mealtimes), indicating that advocacy is emerging as a major caregiver task for parents. Deficits in prosocial behaviours were perceived to have the highest impact on the child’s function. No difference was found between mean helpfulness ratings across the six representative interventions taken from the New Zealand context. Differences in care-related task stress across intervention choices were better explained by differences in symptom severity, suggesting that impairment drives intervention choice. Limited evidence was uncovered suggesting that intervention helpfulness moderates the relationship between core autism spectrum disorder symptoms and parent stress.

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21. Unigwe S, Buckley C, Crane L, Kenny L, Remington A, Pellicano E. GPs’ confidence in caring for their patients on the autism spectrum : an online self-report study. Br J Gen Pract ;2017 (May 08)

BACKGROUND : In the UK, GPs play a key role in the identification and management of children, young people, and adults on the autism spectrum, but there is a paucity of research on GPs’ perceptions of working with these patients. AIM : To understand GPs’ perceived self-efficacy in identifying and managing their patients on the autism spectrum, and the factors affecting this. DESIGN AND SETTING : An online self-report survey was developed for completion by GPs across the UK. METHOD : A total of 304 GPs in the UK took part. The survey collected responses on participants’ background, training, and experience, both as a GP and with regard to autism, and included a 22-item knowledge of autism questionnaire, a 14-item self-efficacy scale targeting GPs’ perceived confidence in identifying and managing their autistic patients, and an open question eliciting participants’ experiences of working with autistic people. RESULTS : In total, 39.5% (n = 120) of GP participants reported never having received formal training in autism. Despite demonstrating good knowledge of its key features, participants reported limited confidence in their abilities to identify and manage autistic patients, with many citing a number of barriers that overwhelmingly focused on perceived failings of the current healthcare system (such as a lack of clarity around referral pathways). CONCLUSION : There is an urgent need for improved local specialist service provision alongside clearer referral pathways for diagnosis to improve both GPs’ confidence in caring for their autistic patients and the healthcare experiences of autistic patients and their families. Local clinical commissioning groups are best served to assist GPs in ensuring that they can reliably detect the condition and make appropriate provisions for support.

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22. Van Hoorn J, Van Dijk E, Crone EA, Stockmann L, Rieffe C. Peers Influence Prosocial Behavior in Adolescent Males with Autism Spectrum Disorders. J Autism Dev Disord ;2017 (May 09)

Peer influence has a profound impact on decision-making in typically developing adolescents. In this study, we examined to what extent adolescent males (age 11-17 years ; N = 144) with and without autism (ASD) were influenced by peer feedback on prosocial behavior, and which factors were related to individual differences in peer feedback sensitivity. In a public goods game, participants made decisions about the allocation of tokens between themselves and their group-in absence or presence of peer feedback. Adolescents with and without ASD were sensitive to peer feedback on prosocial behavior. More autism traits and social interest were associated with less sensitivity to antisocial feedback, suggesting that peer feedback creates opportunities for social adjustment in those with and without ASD.

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23. Wright C, Shin JH, Rajpurohit A, Deep-Soboslay A, Collado-Torres L, Brandon NJ, Hyde TM, Kleinman JE, Jaffe AE, Cross AJ, Weinberger DR. Altered expression of histamine signaling genes in autism spectrum disorder. Transl Psychiatry ;2017 (May 09) ;7(5):e1126.

The histaminergic system (HS) has a critical role in cognition, sleep and other behaviors. Although not well studied in autism spectrum disorder (ASD), the HS is implicated in many neurological disorders, some of which share comorbidity with ASD, including Tourette syndrome (TS). Preliminary studies suggest that antagonism of histamine receptors 1-3 reduces symptoms and specific behaviors in ASD patients and relevant animal models. In addition, the HS mediates neuroinflammation, which may be heightened in ASD. Together, this suggests that the HS may also be altered in ASD. Using RNA sequencing (RNA-seq), we investigated genome-wide expression, as well as a focused gene set analysis of key HS genes (HDC, HNMT, HRH1, HRH2, HRH3 and HRH4) in postmortem dorsolateral prefrontal cortex (DLPFC) initially in 13 subjects with ASD and 39 matched controls. At the genome level, eight transcripts were differentially expressed (false discovery rate <0.05), six of which were small nucleolar RNAs (snoRNAs). There was no significant diagnosis effect on any of the individual HS genes but expression of the gene set of HNMT, HRH1, HRH2 and HRH3 was significantly altered. Curated HS gene sets were also significantly differentially expressed. Differential expression analysis of these gene sets in an independent RNA-seq ASD data set from DLPFC of 47 additional subjects confirmed these findings. Understanding the physiological relevance of an altered HS may suggest new therapeutic options for the treatment of ASD.

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24. Yamasue H. [Voxel-Based Morphometry in Autism Spectrum Disorder]. Brain Nerve ;2017 (May) ;69(5):529-538.

Autism spectrum disorder shows deficits in social communication and interaction including nonverbal communicative behaviors (e.g., eye contact, gestures, voice prosody, and facial expressions) and restricted and repetitive behaviors as its core symptoms. These core symptoms are emerged as an atypical behavioral development in toddlers with the disorder. Atypical neural development is considered to be a neural underpinning of such behaviorally atypical development. A number of studies using voxel-based morphometry have already been conducted to compare regional brain volumes between individuals with autism spectrum disorder and those with typical development. Furthermore, more than ten papers employing meta-analyses of the comparisons using voxel based morphometry between individuals with autism spectrum disorder and those with typical development have already been published. The current review paper adds some brief discussions about potential factors contributing to the inconsistency observed in the previous findings such as difficulty in controlling the confounding effects of different developmental phases among study participants.

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25. Yang S, Dong X, Guo X, Han Y, Song H, Gao L, Dai W, Su Y, Zhang X. Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spectrum Disorders. Front Neurosci ;2017 ;11:221.

The neuropeptide oxytocin (OT) and its receptor (OXTR) have been predicted to be involved in the regulation of social functioning in autism spectrum disorders (ASD). Objective of the study was to investigate serum OT levels and the OXTR rs2254298 polymorphism in Chinese Han children and adolescents with ASD as well as to identify their social deficits relevant to the oxytocinergic system. We tested serum OT levels using ELISA in 55 ASD subjects and 110 typically developing (TD) controls as well as genotyped the OXTR rs2254298 polymorphism using PCR-RFLP in 100 ASD subjects and 232 TD controls. Autistic symptoms were assessed by the Autism Behavior Checklist (ABC) and the Childhood Autism Rating Scale (CARS). There were no significant associations between OXTR rs2254298 polymorphism and ASD, serum OT levels and age, as well as serum OT levels and intelligent quotient (IQ) in both ASD and TD groups. However, ASD subjects exhibited elevated serum OT levels compared to TD controls and positive correlations between serum OT levels and "adaptation to change score" in the CARS and CARS total scores. Moreover, in the ASD group, significant relationships were revealed between the single-nucleotide polymorphism (SNP) rs2254298 and serum OT levels, the category "stereotypes and object use" in the ABC and the category "adaptation to change" in the CARS. These findings indicated that individuals with ASD may exhibit a dysregulation in OT on the basis of changes in OXTR gene expression as well as environmentally induced alterations of the oxytocinergic system to determine their social deficits.

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26. Yuge K, Hara M, Okabe R, Nakamura Y, Okamura H, Nagamitsu S, Yamashita Y, Orimoto K, Kojima M, Matsuishi T. Ghrelin improves dystonia and tremor in patients with Rett syndrome : A pilot study. J Neurol Sci ;2017 (Jun 15) ;377:219-223.

BACKGROUND : Dystonia occurs in approximately 60% of patients with Rett syndrome (RTT) and severely impairs their quality of life. However, an effective standard therapy has not been established. In a previous study, ghrelin levels were significantly decreased in patients with RTT, in particular, among patients over 10years old. This prompted speculation that ghrelin may play an important role in RTT. OBJECTIVES : Four patients, including two adults, with severe dystonia and tremor, were recruited. METHODS : Ghrelin was intravenously administered at a dose of 3mug/kg, once-daily for 3days, followed by once every 3weeks. Objective evaluation was performed, including scoring for different clinical features (SDCF), the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Visual Analog Scale (VAS). RESULTS : The SDCF, BFMDRS, autonomic dysfunction and VAS scores were markedly improved in two patients with severe dystonia and head tremor. CONCLUSION : Ghrelin may improve extrapyramidal symptoms in patients with RTT.

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