Pubmed du 10/04/19

mercredi 10 avril 2019

1. Aghdam MA, Sharifi A, Pedram MM. Diagnosis of Autism Spectrum Disorders in Young Children Based on Resting-State Functional Magnetic Resonance Imaging Data Using Convolutional Neural Networks. Journal of digital imaging. 2019.

Statistics show that the risk of autism spectrum disorder (ASD) is increasing in the world. Early diagnosis is most important factor in treatment of ASD. Thus far, the childhood diagnosis of ASD has been done based on clinical interviews and behavioral observations. There is a significant need to reduce the use of traditional diagnostic techniques and to diagnose this disorder in the right time and before the manifestation of behavioral symptoms. The purpose of this study is to present the intelligent model to diagnose ASD in young children based on resting-state functional magnetic resonance imaging (rs-fMRI) data using convolutional neural networks (CNNs). CNNs, which are by far one of the most powerful deep learning algorithms, are mainly trained using datasets with large numbers of samples. However, obtaining comprehensive datasets such as ImageNet and achieving acceptable results in medical imaging domain have become challenges. In order to overcome these two challenges, the two methods of "combining classifiers," both dynamic (mixture of experts) and static (simple Bayes) approaches, and "transfer learning" were used in this analysis. In addition, since diagnosis of ASD will be much more effective at an early age, samples ranging in age from 5 to 10 years from global Autism Brain Imaging Data Exchange I and II (ABIDE I and ABIDE II) datasets were used in this research. The accuracy, sensitivity, and specificity of presented model outperform the results of previous studies conducted on ABIDE I dataset (the best results obtained from Adamax optimization technique : accuracy = 0.7273, sensitivity = 0.712, specificity = 0.7348). Furthermore, acceptable classification results were obtained from ABIDE II dataset (the best results obtained from Adamax optimization technique : accuracy = 0.7, sensitivity = 0.582, specificity = 0.804) and the combination of ABIDE I and ABIDE II datasets (the best results obtained from Adam optimization technique : accuracy = 0.7045, sensitivity = 0.679, specificity = 0.7421). We can conclude that the proposed architecture can be considered as an efficient tool for diagnosis of ASD in young children. From another perspective, this proposed method can be applied to analyzing rs-fMRI data related to brain dysfunctions.

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2. Bernardo P, Coppola A, Terrone G, Riccio MP, Santoro C, Del Giudice E, Bravaccio C. Epilepsy in Rett syndrome : can seizures play an encephalopathic effect in this disorder ?. Minerva pediatrica. 2019.

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3. Boorse J, Cola M, Plate S, Yankowitz L, Pandey J, Schultz RT, Parish-Morris J. Linguistic markers of autism in girls : evidence of a "blended phenotype" during storytelling. Mol Autism. 2019 ; 10 : 14.

Background : Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in social cognition, including Theory of Mind. However, research suggests that typically developing (TD) boys and girls tell narratives in sex-specific ways, including differential reliance on cognitive process words. Given that most studies of narration in ASD have been conducted in predominantly male samples, it is possible that prior results showing reduced cognitive processing language in ASD may not generalize to autistic girls. To answer this question, we measured the relative frequency of two kinds of words in stories told by autistic girls and boys : nouns (words that indicate object-oriented storytelling) and cognitive process words (words like think and know that indicate mentalizing or attention to other peoples’ internal states). Methods : One hundred two verbally fluent school-aged children [girls with ASD (N = 21) and TD (N = 19), and boys with ASD (N = 41) and TD (N = 21)] were matched on age, IQ, and maternal education. Children told a story from a sequence of pictures, and word frequencies (nouns, cognitive process words) were compared. Results : Autistic children of both sexes consistently produced a greater number of nouns than TD controls, indicating object-focused storytelling. There were no sex differences in cognitive process word use in the TD group, but autistic girls produced significantly more cognitive process words than autistic boys, despite comparable autism symptom severity. Thus, autistic girls showed a unique narrative profile that overlapped with autistic boys and typical girls/boys. Noun use correlated significantly with parent reports of social symptom severity in all groups, but cognitive process word use correlated with social ability in boys only. Conclusion : This study extends prior research on autistic children’s storytelling by measuring sex differences in the narratives of a relatively large, well-matched sample of children with and without ASD. Importantly, prior research showing that autistic children use fewer cognitive process words is true for boys only, while object-focused language is a sex-neutral linguistic marker of ASD. These findings suggest that sex-sensitive screening and diagnostic methods-preferably using objective metrics like natural language processing-may be helpful for identifying autistic girls, and could guide the development of future personalized treatment strategies.

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4. Cordero C, Windham GC, Schieve LA, Fallin MD, Croen LA, Siega-Riz AM, Engel SM, Herring AH, Stuebe AM, Vladutiu CJ, Daniels JL. Maternal diabetes and hypertensive disorders in association with autism spectrum disorder. Autism Res. 2019.

Previous studies have shown complications of pregnancy, often examined in aggregate, to be associated with autism spectrum disorder (ASD). Results for specific complications, such as maternal diabetes and hypertension, have not been uniformly consistent and should be investigated independently in relation to ASD in a large community-based sample. The Study to Explore Early Development (SEED), a US multisite case-control study, enrolled children born in 2003-2006 at 2-5 years of age. Children were classified into three groups based on confirmation of ASD (n = 698), non-ASD developmental delay (DD ; n = 887), or controls drawn from the general population (POP ; n = 979). Diagnoses of any diabetes or hypertensive disorder during pregnancy were identified from prenatal medical records and maternal self-report. Logistic regression models estimated adjusted odds ratios (aOR) and confidence intervals (CI) adjusting for maternal age, race/ethnicity, education, smoking during pregnancy, and study site. Models for hypertension were additionally adjusted for parity and plurality. Among 2,564 mothers, we identified 246 (9.6%) with any diabetes and 386 (15.1%) with any hypertension in pregnancy. After adjustment for covariates, any diabetes during pregnancy was not associated with ASD (aOR = 1.10 [95% CI 0.77, 1.56]), but any hypertension was associated with ASD (aOR = 1.69 [95% CI 1.26, 2.26]). Results were similar for DD, and any diabetes (aOR = 1.29 [95% CI 0.94, 1.78]) or any hypertension (aOR = 1.71 [95% CI 1.30, 2.25]). Some pregnancy complications, such as hypertension, may play a role in autism etiology and can possibly serve as a prompt for more vigilant ASD screening efforts. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : We studied if common complications in pregnancy are associated with autism spectrum disorder (ASD) in a large sample of mothers and children. Our results show an association between conditions marked by high blood pressure and ASD, but no association with conditions marked by high blood sugar and ASD. Associations were similar for children who had a developmental disorder that was not ASD, suggesting that this relationship may not be specific to ASD.

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5. de la Torre R, de Sola S, Farre M, Xicota L, Cuenca-Royo A, Rodriguez J, Leon A, Langohr K, Gomis-Gonzalez M, Hernandez G, Esteba S, Del Hoyo L, Sanchez-Gutierrez J, Cortes MJ, Ozaita A, Espadaler JM, Novell R, Martinez-Leal R, Mila M, Dierssen M. A phase 1, randomized double-blind, placebo controlled trial to evaluate safety and efficacy of epigallocatechin-3-gallate and cognitive training in adults with Fragile X syndrome. Clinical nutrition (Edinburgh, Scotland). 2019.

BACKGROUND & AIMS : Despite the wide spectrum of experimental compounds tested in clinical trials, there is still no proven pharmacological treatment available for Fragile-X syndrome (FXS), since several targeted clinical trials with high expectations of success have failed to demonstrate significant improvements. Here we tested epigallocatechin-3-gallate (EGCG) as a treatment option for ameliorating core cognitive and behavioral features in FXS. METHODS : We conducted preclinical studies in Fmr1 knockout mice (Fmr1-/y) using novel object-recognition memory paradigm upon acute EGCG (10 mg/kg) administration. Furthermore we conducted a double-blind placebo-controlled phase I clinical trial (TESXF ; NCT01855971). Twenty-seven subjects with FXS (18-55 years) were administered of EGCG (5-7 mg/kg/day) combined with cognitive training (CT) during 3 months with 3 months of follow-up after treatment discontinuation. RESULTS : Preclinical studies showed an improvement in memory using the Novel Object Recognition paradigm. We found that FXS patients receiving EGCG + CT significantly improved cognition (visual episodic memory) and functional competence (ABAS II-Home Living skills) in everyday life compared to subjects receiving Placebo + CT. CONCLUSIONS : Phase 2 clinical trials in larger groups of subjects are necessary to establish the therapeutic potential of EGCG for the improvement of cognition and daily life competences in FXS.

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6. Deserno MK, Borsboom D, Begeer S, Agelink van Rentergem JA, Mataw K, Geurts HM. Sleep determines quality of life in autistic adults : A longitudinal study. Autism Res. 2019.

Many individuals with autism report generally low quality of life (QoL). Identifying predictors for pathways underlying this outcome is an urgent priority. We aim to examine multivariate patterns that predict later subjective and objective QoL in autistic individuals. Autistic characteristics, comorbid complaints, aspects of daily functioning, and demographics were assessed online in a 2-year longitudinal study with 598 autistic adults. Regression trees were fitted to baseline data to identify factors that could predict QoL at follow-up. We found that sleep problems are an important predictor of later subjective QoL, while the subjective experience of a person’s societal contribution is important when it comes to predicting the level of daily activities. Sleep problems are the most important predictor of QoL in autistic adults and may offer an important treatment target for improving QoL. Our results additionally suggest that social satisfaction can buffer this association. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Many individuals with autism report generally low quality of life (QoL). In this study, we looked at factors that predict long-term QoL and found that sleep problems are highly influential. Our results additionally suggest that social satisfaction can buffer this influence. These findings suggest that sleep and social satisfaction could be monitored to increase QoL in autistic adults.

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7. Eldevik S, Aarlie H, Titlestad KB, Kazemi E, Elsky G. Effects of Functional Discrimination Training on Initial Receptive Language in Individuals With Autism Spectrum Disorder. Behav Modif. 2019 : 145445519841052.

The success of behavior-analytic procedures to teach language to individuals with autism spectrum disorder (ASD) has been well established in the literature. Nevertheless, some individuals may not learn any receptive or expressive language following extensive teaching efforts. We examined the effects of two reinforcement contingencies, functional and arbitrary, on increasing the level of auditory-visual conditional discriminations in children with ASD with a history of having difficulty learning discriminations. We evaluated the effects of the reinforcement contingencies by comparing the number of trials needed to establish discriminations in an adapted alternating treatment design. We found that five out of eight participants showed more rapid acquisition and demonstrated discrimination between more items in the functional reinforcement condition. The remaining three participants did not exhibit any discrimination in either condition within the allotted 500 trials/20 days. These findings suggest that using functional reinforcement procedures may be a helpful alternative for individuals who do not learn discriminations through traditional procedures.

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8. Hoffman BL, Felter EM, Chu KH, Shensa A, Hermann C, Wolynn T, Williams D, Primack BA. It’s not all about autism : The emerging landscape of anti-vaccination sentiment on Facebook. Vaccine. 2019 ; 37(16) : 2216-23.

BACKGROUND : Due in part to declining vaccination rates, in 2018 over 20 states reported at least one case of measles, and over 40,000 cases were confirmed in Europe. Anti-vaccine posts on social media may be facilitating anti-vaccination behaviour. This study aimed to systematically characterize (1) individuals known to publicly post anti-vaccination content on Facebook, (2) the information they convey, and (3) the spread of this content. METHODS : Our data set consisted of 197 individuals who posted anti-vaccination comments in response to a message promoting vaccination. We systematically analysed publicly-available content using quantitative coding, descriptive analysis, social network analysis, and an in-depth qualitative assessment. The final codebook consisted of 26 codes ; Cohen’s kappa ranged 0.71-1.0 after double-coding. RESULTS : The majority (89%) of individuals identified as female. Among 136 individuals who divulged their location, 36 states and 8 other countries were represented. In a 2-mode network of individuals and topics, modularity analysis revealed 4 distinct sub-groups labelled as "trust," "alternatives," "safety," and "conspiracy." For example, a comment representative of "conspiracy" is that poliovirus does not exist and that pesticides caused clinical symptoms of polio. An example from the "alternatives" sub-group is that eating yogurt cures human papillomavirus. Deeper qualitative analysis of all 197 individuals’ profiles found that these individuals also tended to post material against other health-related practices such as water fluoridation and circumcision. CONCLUSIONS : Social media outlets may facilitate anti-vaccination connections and organization by facilitating the diffusion of centuries old arguments and techniques. Arguments against vaccination are diverse but remain consistent within sub-groups of individuals. It would be valuable for health professionals to leverage social networks to deliver more effective, targeted messages to different constituencies.

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9. Lempriere S. Autism mutation produces hyper-connected neurons. Nature reviews Neurology. 2019.

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10. Nagib W, Wilton R. Gender matters in career exploration and job-seeking among adults with autism spectrum disorder : evidence from an online community. Disabil Rehabil. 2019 : 1-12.

PURPOSE : The purpose of this study was to explore the role of gender in career exploration and job-seeking experiences among adults with autism. METHODS : The study drew on qualitative content analysis of 714 randomly sampled posts (357 by women and 357 by men) from an online autism forum. The stages of considering work : contemplation, preparation, and action informed the analysis. RESULTS : The analysis showed several similarities and some differences. In the initial stage of deciding whether or not to seek employment, low self-esteem, rejecting paid employment as a life goal, fear of losing disability benefits and parental overprotection influenced both genders. Gender role and family responsibilities further constrained women. In the stage of defining career goals, common issues included the need for autism-tailored career-matching tools and sector-specific guidance, and lack of self-employment support. Women were further limited by assumptions about stereotypical jobs to which they should aspire. In the job search stage, overly specific job descriptions, a lack of social networks, and transportation barriers influenced both genders. While women talked more frequently about unfavorable experiences in employment support services, men recounted more difficulties with job applications and interviews. CONCLUSION : Gender-sensitive vocational approaches are needed to assist adults with autism throughout the career decision-making process. Implications for rehabilitation Vocational psychologists, clinicians, and policymakers should help to overcome the psychological, social, and financial reasons that may lead adults with autism to decide not to pursue paid work. To assist in setting career goals, vocational specialists need to be aware of the challenges facing adults with autism across various employment sectors and provide them with tailored career-matching tests and tools. Vocational rehabilitation specialists and educators should encourage women with autism into non-traditional areas of employment. Vocational rehabilitation services should empower both males and females with autism by encouraging negotiation and self-advocacy, promoting autism-focused programs, and reducing paperwork and processing time. Vocational rehabilitation specialists should tailor their practice to the gender-specific needs of adults with autism throughout their career decision-making process.

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11. Nomura K, Yamaguchi M, Yokoyama M, Shiota M, Ohno K, Maegaki Y. A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan. Yonago acta medica. 2019 ; 62(1) : 8-13.

Background : Autism spectrum disorders (ASD) with intellectual disabilities may be associated with many factors. This study focused on patients with ASD with intellectual disabilities, defined by a threshold intelligence quotient (IQ) or development quotient (DQ) of 70. We also discuss comorbidities and other factors related to ASD. Methods : We extracted case records of patients born between April 1995 and March 2001 who lived in Yonago City, as of January 2011, and had visited the two specialist institutions for consultation regarding developmental issues. The list was further narrowed down to patients identified, as having ASD by pediatric neurologists based on Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition) (DSM-5). We selected patients with < IQ/DQ 70 using the most recent intelligence/development test to determine comorbidities and other factors related to ASD. Results : The data of 81 patients (59 males and 22 females) were extracted, corresponding to an incidence of 76.2 patients out of every 10,000 births. The male-to-female ratio was 2.7:1. Comorbidities and related factors of ASD were observed in 25 cases (30.9%). Eleven cases had perinatal abnormalities. Other abnormalities were observed in 17 cases, including epilepsies in 7, chromosomal abnormalities in 4, familial mental retardation in 1, and acquired brain injury in 1. Conclusion : It is important to treat and support individuals with ASD and intellectual disabilities taking into account the characteristics and prognosis of the comorbidities and related factors.

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12. Pandelache A, Baker EK, Aliaga SM, Arpone M, Forbes R, Stark Z, Francis D, Godler DE. Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles. Genes. 2019 ; 10(4).

 : This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS : <44 CGGs), premutation (PM : 55(-)199 CGG) and full mutation (FM alleles >/= 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an XY sex complement. Normal size (30 CGG), PM (99 CGG) and FM (388(-)1632 CGGs) alleles were detected in Twin 1 (T1) by standard polymerase chain reaction (PCR) and Southern blot testing, while only PM (99 CGG) and FM (672(-)1025) alleles were identified in Twin 2 (T2). At 5 years, T2 had greater intellectual impairments with a full scale IQ (FSIQ) of 55 and verbal IQ (VIQ) of 59, compared to FSIQ of 62 and VIQ of 78 for T1. This was consistent with the quantitative FMR1 methylation testing, revealing 10% higher methylation at 80% for T2 ; suggesting that less active unmethylated alleles were present in T2 as compared to T1. AmplideX methylation PCR also identified partial methylation, including an unmethylated NS allele in T2, undetected by standard testing. In conclusion, this report demonstrates significant differences in intellectual functioning between the MZ twins mosaic for NS, PM and FM alleles with partial FMR1 promoter methylation.

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13. Sturm A, Kasari C. Academic and psychosocial characteristics of incoming college freshmen with autism spectrum disorder : The role of comorbidity and gender. Autism Res. 2019.

There is a pressing need to better characterize the college-bound population of individuals with autism spectrum disorder (ASD), as prior studies have included small samples, consisting of individuals who are either recruited due to diagnosis or are treatment seeking. As postsecondary institutions look to respond to the growing need for support services for individuals with ASD, insights derived from large, population-based samples is a necessity. The current study included a sample of over 2000 incoming postsecondary students who self-identified with ASD as a part of surveys distributed by institutions nationally. The impact of heterogeneity (gender, comorbid attention-deficit/hyperactivity disorder [ADHD], and/or learning disability) on demographic characteristics, and psychosocial (psychological health, interpersonal self-confidence) and academic (self-regulated learning, intellectual self-confidence) domains critical for success in postsecondary education were compared to a matched sample of students with ADHD or no diagnoses. College-bound students with ASD broadly endorsed similar rates of ADHD, LD, and psychological disorder comorbidity to clinic-referred samples, and were more similar than different from their typically developing peers. A comorbid diagnosis of ADHD was associated with greater academic disengagement. Females with ASD and those with any comorbid disorder were more likely to self-report poorer psychological health. Findings revealed that self-reported levels of functioning in critical domains differed by self-reported comorbid disorders and gender. Findings have implications for targeted support service recommendations based on unique sources of heterogeneity (e.g., gender, presenting comorbid disorders) and are detailed in the current study. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : College-bound students with ASD feel academically competent ; however feel less confident with their peers. Students with ASD and another diagnosis (e.g., ADHD, learning disability) and girls with ASD may be particularly at risk of experiencing poorer psychological health while enrolled in postsecondary education. Using this information, postsecondary institutions can provide more targeted support services to students with ASD enrolled in postsecondary education.

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14. Tan Y, Thomas S, Lee BK. Parent-reported prevalence of food allergies in children with autism spectrum disorder : National health interview survey, 2011-2015. Autism Res. 2019.

Food allergies are frequently reported to co-occur with autism spectrum disorder (ASD), but the prevalence of this co-occurrence remains uncertain. In the present study, we examined parent-reported prevalence of co-occurring food allergy and ASD in a nationally representative sample of US children ages 2-17 in the National Health Interview Survey, study years 2011-2015. All analyses used survey weights to account for the complex sampling design. In the analytic sample of 53,365 children ages 2-17, there were 905 children with parent-reported ASD (prevalence of 1.7%) and 2,977 children with parent-reported food allergy (prevalence of 5.6%). Parent-reported food allergies were nearly 2.5 times more common in children with ASD (prevalence of 13.1%) than in children without ASD (5.4%). These results indicate that food allergies commonly co-occur with ASD, which may have etiological implications. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Food allergies are frequently reported to occur with autism spectrum disorder (ASD), but the prevalence of this co-occurrence remains uncertain. In the present study, we examined parent-reported prevalence of co-occurring food allergy and ASD in a nationally representative sample of United States children. In the sample of 53,365 children ages 2-17, 1.7% of children were reported to have ASD, and 5.6% were reported to have food allergies. Parent-reported food allergies were nearly 2.5 times more common in children with ASD (13.1%) than in children without ASD (5.4%).

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15. Vilidaite G, Norcia AM, West RJH, Elliott CJH, Pei F, Wade AR, Baker DH. Autism sensory dysfunction in an evolutionarily conserved system. Proceedings Biological sciences. 2018 ; 285(1893) : 20182255.

There is increasing evidence for a strong genetic basis for autism, with many genetic models being developed in an attempt to replicate autistic symptoms in animals. However, current animal behaviour paradigms rarely match the social and cognitive behaviours exhibited by autistic individuals. Here, we instead assay another functional domain-sensory processing-known to be affected in autism to test a novel genetic autism model in Drosophila melanogaster. We show similar visual response alterations and a similar development trajectory in Nhe3 mutant flies (total n = 72) and in autistic human participants (total n = 154). We report a dissociation between first- and second-order electrophysiological visual responses to steady-state stimulation in adult mutant fruit flies that is strikingly similar to the response pattern in human adults with ASD as well as that of a large sample of neurotypical individuals with high numbers of autistic traits. We explain this as a genetically driven, selective signalling alteration in transient visual dynamics. In contrast to adults, autistic children show a decrease in the first-order response that is matched by the fruit fly model, suggesting that a compensatory change in processing occurs during development. Our results provide the first animal model of autism comprising a differential developmental phenotype in visual processing.

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