1. Breik N, Kuo IF, Bugden S, Moffat M, Alessi-Severini S. {{Treating Children with ASD: The Perspective of Caregivers}}. {Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques}. 2018; 21(1s): 74s-87s.
PURPOSE: Treatment of Autism Spectrum Disorders (ASD) is challenging. Parents/caregivers’ perspective on the effectiveness of therapies and services available to their children is important but neglected in the literature on ASD. This study investigated such perspective through questionnaire-guided interviews with a group of parents in the province of Manitoba (Canada). A secondary objective of the study was to explore how health care professionals and specifically pharmacists can assist in providing better care to children with ASD. Methods: Informed consent was obtained from all participants. Data on diagnoses and prescribed medications were collected from medical charts. Parents/caregivers completed questionnaires during interviews scheduled at their convenience. Specific questions were asked to gather caregivers/parents’ perspectives on the effectiveness of medications and non-pharmacological interventions in controlling symptoms experienced by their children. Information on access to education and health services was also assessed. Common themes were identified using thematic analysis. RESULTS: All children attended school, 88% were males, 50% experienced eating/sleeping difficulties; 69% reported Attention Deficit Hyperactivity Disorder comorbidity. Risperidone was reported to be effective in controlling aggressive behaviours. Methylphenidate and aripiprazole were often discontinued. Melatonin and occupational therapy services were said to be very useful. Access to behavioural therapy was often limited. Parents were concerned about lack of trained professionals in schools, limited understanding of their children’s needs, and uncertainty for the future. CONCLUSIONS: Better education and awareness are necessary to help ASD children and their families. Pharmacists should explore opportunities to provide better services. This article is open to POST-PUBLICATION REVIEW. Registered readers (see « For Readers ») may comment by clicking on ABSTRACT on the issue’s contents page.
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2. Cai J, Hu X, Guo K, Yang P, Situ M, Huang Y. {{Increased Left Inferior Temporal Gyrus Was Found in Both Low Function Autism and High Function Autism}}. {Frontiers in psychiatry}. 2018; 9: 542.
Previous neuroimaging studies of autism spectrum disorder (ASD) have focused on subjects with IQ > 70 or ASD without considering IQ levels. It remains unclear whether differences in brain anatomy in this population are associated with variations in clinical phenotype. In this study, 19 children with low functioning autism (LFA) and 19 children with high functioning autism (HFA) were compared with 27 healthy controls (HC). We found increased gray matter volume (GMV) in the left inferior temporal gyrus in subjects with both HFA and LFA and increased GMV of left middle temporal gyrus BA21 was found only in the LFA group. A significant negative correlation was found between the left inferior temporal gyrus (LITG) and the score of repetitive behavior in the HFA group.
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3. Dai M, Lin L, Liang J, Wang Z, Jing J. {{Gender Difference in the Association Between Executive Function and Autistic Traits in Typically Developing Children}}. {Journal of autism and developmental disorders}. 2018.
Autistic traits and executive function (EF) were assessed in 413 typically developing children aged 6-9 years. The children were divided into the high- autistic-trait (HAT) and low-autistic-trait (LAT) groups based on their total autistic traits. Results suggested that there were gender differences in specific autistic traits in children with LAT. There were gender-specific associations between EF and autistic traits in children with HAT: the set shifting of EF predicted difficulties in social awareness in boys; whereas all the EF components predicted difficulties in social communication and social cognition in girls. These findings may have implications for developing customized interventions that are targeted at specific autistic deficits in males and females.
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4. Dempsey J, Dempsey AG. {{Autism Spectrum Disorder Severity, Developmental Delays, and Overweight/Obese Weight Status}}. {The Journal of pediatrics}. 2018.
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5. D’Haene E, Bar-Yaacov R, Bariah I, Vantomme L, Van Loo S, Cobos FA, Verboom K, Eshel R, Alatawna R, Menten B, Birnbaum RY, Vergult S. {{A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics}}. {Human molecular genetics}. 2018.
Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett-like syndrome. Structural variants (SVs) upstream of MEF2C, that do not disrupt the gene itself, have also been found in patients with a similar phenotype, suggesting that disruption of MEF2C regulatory elements can also cause a Rett-like phenotype. To characterize those elements that regulate MEF2C during neural development and which are affected by these SVs, we used genomic tools coupled with both in vitro and in vivo functional assays. Through 4C-seq and ATAC-seq, we revealed a complex interaction network in which the MEF2C promoter physicallycontacts several distal enhancers that are deleted or translocated by disease-associated SVs. Sixteen selected candidate regulatory sequences were tested for enhancer activity in vitro, with fourteen found to be functional enhancers. Further analyses of their in vivo activity in zebrafish showed that each of these enhancers has a distinct activity pattern during development, with eight enhancers displaying neuronal activity. In summary, our results disentangle a complex regulatory network governing neuronalMEF2Cexpression that involves multiple distal enhancers. In addition, the characterized neuronal enhancers pose as novel candidates to screen for mutations in neuro developmental disorders, such as Rett-likesyndrome.
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6. Duncan A, Tamm L, Birnschein AM, Becker SP. {{Clinical correlates of sluggish cognitive tempo in adolescents with autism spectrum disorder}}. {Autism : the international journal of research and practice}. 2018: 1362361318811329.
Adolescents with autism spectrum disorder frequently experience social communication difficulties, executive functioning deficits, and anxiety and depressive symptoms, which are similar to the symptoms and correlates of sluggish cognitive tempo. Although sluggish cognitive tempo is related to, but distinct from, the inattentive and hyperactive-impulsive symptoms of attention-deficit/hyperactivity disorder that commonly co-occur with autism spectrum disorder, few studies have examined sluggish cognitive tempo in autism spectrum disorder. We examined whether sluggish cognitive tempo and attention-deficit/hyperactivity disorder were differentially associated with autism symptomatology, daily life executive functioning, and internalizing and externalizing symptoms in 51 adolescents (ages 13-18 years) with autism spectrum disorder without intellectual disability. Regression analyses controlling for age and IQ showed that sluggish cognitive tempo symptoms, but not attention-deficit/hyperactivity disorder symptoms, were associated with increased autism symptomatology and internalizing symptoms. Attention-deficit/hyperactivity disorder symptoms, but not sluggish cognitive tempo symptoms, were associated with increased externalizing behaviors and behavior regulation deficits. Both sluggish cognitive tempo and attention-deficit/hyperactivity disorder were independently associated with increased metacognitive deficits. This study provides preliminary evidence that sluggish cognitive tempo symptoms are elevated in autism spectrum disorder and associated with key clinical correlates, with implications for the assessment and treatment in adolescents with autism spectrum disorder.
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7. Franke KB, Hills K, Huebner ES, Flory K. {{Life Satisfaction in Adolescents with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
We provided evidence regarding the reliability and validity of measures of assets and life satisfaction (LS) for adolescents with autism spectrum disorder (ASD). We identified levels of LS within this population, compared these levels to those of typically developing adolescents, and described the relation between assets and LS. Forty-six adolescents with ASD and their caregivers completed questionnaires assessing LS and assets. Preliminary support was provided for the internal consistency reliability and validity of these measures in adolescents with ASD. Youth with ASD reported moderate to high levels of LS; these were lower than those of typically developing peers. Age moderated the relation between self-reported LS and some assets. Implications were discussed within the context of Schalock’s (J Disabil Policy Stud 14:204-215, 2004) emerging disability paradigm.
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8. Goel A, Cantu DA, Guilfoyle J, Chaudhari GR, Newadkar A, Todisco B, de Alba D, Kourdougli N, Schmitt LM, Pedapati E, Erickson CA, Portera-Cailliau C. {{Author Correction: Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible}}. {Nature neuroscience}. 2018.
The original and corrected Acknowledgements are shown in the accompanying Author Correction.
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9. Juneja M, Venkatakrishnan A, Kapoor S, Jain R. {{Autism Spectrum Disorders and Celiac Disease: Is there an Association?}}. {Indian pediatrics}. 2018; 55(10): 912-4.
We included 150 children aged 2-12 years with Autism Spectrum Disorders and normal serum total IgA levels, and screened them for celiac disease using anti-tissue transglutaminase IgA levels. All the children were screen negative, suggesting lack of positive association between Autism Spectrum Disorders and Celiac disease.
10. Matheis M, Matson JL, Hong E, Cervantes PE. {{Gender Differences and Similarities: Autism Symptomatology and Developmental Functioning in Young Children}}. {Journal of autism and developmental disorders}. 2018.
A growing body of research suggests that symptoms of autism spectrum disorder (ASD) may present differently in males and females. This study examined gender differences in ASD symptoms and developmental functioning, using the Baby and Infant Screen for Children with aUtism Traits, Part 1 (BISCUIT-Part 1) and the Battelle Developmental Inventory, 2nd Edition (BDI-2), amongst children aged 17-37 months meeting ASD diagnostic criteria (n = 1317). No gender differences were found in regards to overall symptom severity or symptom domains on the BISCUIT-Part 1 when gender groups were matched by cognitive ability. Females with ASD had greater motor deficits and less communication impairment compared to their male counterparts as measured by the BDI-2. Secondary analyses examining item endorsement patterns were also conducted. Implications of the findings are discussed.
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11. Ogawa R, Kagitani-Shimono K, Matsuzaki J, Tanigawa J, Hanaie R, Yamamoto T, Tominaga K, Hirata M, Mohri I, Taniike M. {{Abnormal cortical activation during silent reading in adolescents with autism spectrum disorder}}. {Brain & development}. 2018.
OBJECTIVE: Autism spectrum disorder (ASD) is a developmental disorder characterized by communication deficits and social difficulties, and individuals with ASD frequently exhibit varied levels of language abilities. However, the neurophysiological mechanisms underlying their language deficits remain unclear. To gain insight into the neurophysiological mechanisms of receptive language deficits, we assessed cortical activation patterns in adolescents with ASD during silent word-reading. METHODS: We used magnetoencephalography to measure cortical activation during a silent word-reading task in 14 adolescent boys with high-functioning ASD and 17 adolescent boys with typical development (TD). RESULTS: Compared with participants with TD, those with ASD exhibited significantly decreased cortical activation in the left middle temporal gyrus, left temporoparietal junction, bilateral superior temporal gyrus, left posterior insula, and right occipitotemporal gyrus, and increased activation in the right anterior insula. Participants with ASD also exhibited a lack of left-lateralization in the central sulcus and abnormal right-lateralization in the anterior insula area. Furthermore, in participants with ASD, we found that abnormal activation of the right central sulcus correlated significantly with lower visual word comprehension scores, and that decreased activation of the right anterior insula correlated significantly with the severity of social interaction difficulties. CONCLUSION: Our findings suggest that atypical cortical activation and lateralization in the temporal-frontal area, which is associated with higher-order language processing functions, such as semantic analysis, may play a crucial role in visual word comprehension and social interaction difficulties in adolescents with ASD.
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12. Passias PG, Bortz CA, Pierce KE, Segreto FA, Horn SR, Vasquez-Montes D, Lafage V, Brown AE, Ihejirika Y, Alas H, Varlotta C, Ge DH, Shepard N, Oh C, DelSole EM, Jankowski PP, Hockley A, Diebo BG, Vira SN, Sciubba DM, Raad M, Neuman BJ, Gerling MC. {{Decreased rates of 30-day perioperative complications following ASD-corrective surgery: A modified Clavien analysis of 3300 patients from 2010 to 2014}}. {Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia}. 2018.
The Clavien-Dindo grading allows for broad comparison of perioperative surgical complications, and a temporal analysis of complications following ASD-corrective surgery. NSQIP database was utilized from 2010 to 2014 to isolate patients. Complications were stratified by Clavien complication (Cc) grade, and patients grouped by highest Cc grade: I, II, III, IV, V. Secondary analysis grouped by minor (I, II, III) and severe (IV, V). Comorbidity burden was assessed with a NSQIP-modified Charlson Comorbidity Index (CCI) and frailty was measured with a 5-factor modified frailty index (mFI). From 2010 to 2014, 2971 patients (57yrs, 58% F) underwent surgery for ASD (3.4+/-4.1 levels; surgical approach: 46% anterior, 44% posterior, 10% combined), the rate of which increased 0.01% to 0.13. 32% suffered >1 complication. Patient breakdown by Cc grade: 0% I, 25% II, 3% III, 4% IV, 1% V. Severe Cc patients were more comorbid than minor Cc (CCI 2.8 vs 1.8), had longer operative times (394min vs 251), and higher rates of osteotomy (29% vs 13%) and iliac fixation (16% vs 5%). Overall CCI (2.1-1.7) and perioperative complication rates (55-29%) decreased, despite increasing surgical invasiveness (2.8-4.5) and increasing frailty score (0.14+/-0.15 vs 0.16+/-0.16). Rates of Clavien grade II (39.80-22.20%) and IV (9.40-3.50%) complications also decreased, indicative of surgical improvements and effective preoperative patient selection. The decrease in CCI and increase in the modified frailty score may show that we are becoming more cognizant of discerning of comorbidities, but likely to not to have taken into account frailty, which may have an impact on future health socioeconomics.
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13. Rosello B, Berenguer C, Baixauli I, Colomer C, Miranda A. {{ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions}}. {PloS one}. 2018; 13(11): e0207286.
In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behaviors in children with ASD. Participants were 89 children between 7 and 11 years old, 52 with ASD and 37 with TD, matched on age and intelligence. Their teachers filled out questionnaires assessing executive functioning as well as learning behaviors. Parents and teachers reported on inattention and hyperactivity/impulsivity behaviors. Compared to children with TD, children with ASD presented significantly more ADHD symptoms and poorer learning behaviors. In addition, there were significant mediation effects of the behavioral regulation index (BRI) and metacognition index (MI) of EF, indicating that both are part of the route through which ADHD symptoms impact to learning behaviors of children with ASD.
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14. Serur Y, Sofrin Frumer D, Daon K, Sobol-Havia D, Weinberger R, Shulman C, Gothelf D. {{Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism}}. {European psychiatry : the journal of the Association of European Psychiatrists}. 2018; 55: 116-21.
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by high rates of psychiatric disorders. To our knowledge, this is the first study to assess psychiatric disorders in young children with 22q11DS using a structured psychiatric diagnostic interview, and one of few studies to use the complete gold standard diagnostic evaluation to examine the prevalence of autism spectrum disorder (ASD) in young children with 22q11DS and compare it to a matched control group with iASD. METHODS: We identified the psychiatric disorders and autistic phenotype of young children with 22q11DS (age 3-8 years) and compared them with those of age and sex-matched children with idiopathic autism (iASD). We used the gold standard psychiatric and ASD assessments including the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and a clinical examination by a child psychiatrist. RESULTS: Eighty-four percent of the children with 22q11DS had at least one psychiatric disorder, including anxiety disorders and ADHD, and 16% met strict criteria for ASD. Children with 22q11DS and ASD symptoms had less severe overall ASD symptoms than those with iASD. Children with 22q11DS, regardless of ASD diagnosis, were characterized by repetitive restricted behaviors. CONCLUSIONS: Our results highlight the need to screen for psychiatric disorders in 22q11DS and treat them already in preschool years.
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15. Siniscalco D, Kannan S, Semprun-Hernandez N, Eshraghi AA, Brigida AL, Antonucci N. {{Stem cell therapy in autism: recent insights}}. {Stem cells and cloning : advances and applications}. 2018; 11: 55-67.
Autism spectrum disorders (ASDs) are characterized by core domains: persistent deficits in social communication and interaction; restricted, repetitive patterns of behavior, interests, or activities. ASDs comprise heterogeneous and complex neurodevelopmental pathologies with well-defined inflammatory conditions and immune system dysfunction. Due to neurobiologic changes underlying ASD development, cell-based therapies have been proposed and applied to ASDs. Indeed, stem cells show specific immunologic properties, which make them promising candidates in ASD treatment. This comprehensive up-to-date review focuses on ASD cellular/molecular abnormalities, potentially useful stem cell types, animal models, and current clinical trials on the use of stem cells in treating autism. Limitations are also discussed.
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16. Sorcinelli A, Ference J, Curtin S, Vouloumanos A. {{Preference for speech in infancy differentially predicts language skills and autism-like behaviors}}. {Journal of experimental child psychology}. 2018; 178: 295-316.
Early emerging biases for conspecific vocalizations are a hallmark of early development. Typically developing neonates listen to speech more than many other sounds, including non-biological non-speech sounds, but listen equally to speech and monkey calls. By 3months of age, however, infants prefer speech over both non-biological non-speech sounds and monkey calls. We examined whether different listening preferences continue to develop along different developmental trajectories and whether listening preferences are related to developmental outcomes. Given the static preference for speech over non-biological non-speech sounds and the dynamic preference for speech over monkey calls between birth and 3months, we examined whether 9-month-olds prefer speech over non-biological non-speech sounds (Experiment 1) and prefer speech over monkey calls (Experiment 2). We compared preferences for sounds in infants at low risk (SIBS-TD) and infants at high risk (SIBS-A) of autism spectrum disorder (ASD), a heterogeneous population who differ from typically developing infants in their preferences for speech, and examined whether listening preferences predict vocabulary and autism-like behaviors at 12months for both groups. At 9months, SIBS-TD listened longer to speech than to non-speech sounds and listened longer to monkey calls than to speech, whereas SIBS-A listened longer to speech than to non-speech sounds but listened equally to speech and monkey calls. SIBS-TD’s preferences did not predict immediate developmental outcomes. In contrast, SIBS-A who preferred speech over non-speech or monkey calls had larger vocabularies and fewer markers of autism-like behaviors at 12months, which could have positive developmental implications.
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17. Sun C, Zou M, Li L, Li D, Ma Y, Xia W, Wu L, Ren H. {{Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders}}. {Life sciences}. 2018; 213: 183-9.
Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders involving structural and functional impairment of the brain. Inwardly rectifying potassium (Kir) channels may contribute to the etiology of ASD by altering brain function. This study investigated the associations between genetic variants of KCNJ2 and KCNJ10 genes (encoding Kir2.1 and Kir4.1, respectively) and ASD risk in patients, and Kir channel expression in ASD model rats. This case-control study involved a cohort of 269 Chinese children with ASD and 243 unrelated healthy controls. Twelve tag single nucleotide polymorphisms (SNPs) from the KCNJ2 and KCNJ10 genes were genotyped by Sequenom Mass Array, while a valproic acid (VPA)-induced rat model of ASD was used to evaluate Kir channel expression in the hippocampus. Among the 12 examined SNPs, only KCNJ10 rs1186689 was significantly associated with disease susceptibility; the variant T allele conferred a lower risk of developing ASD [odds ratio (OR)=0.61, 95% confidence interval (CI)=0.47-0.80, p false discovery rate (FDR)=0.012, and OR=0.63, 95% CI=0.48-0.84, pFDR=0.014 at the allelic and genotypic levels, respectively]. Additionally, hippocampal Kir2.1 and Kir4.1 levels were decreased in VPA as compared to control rats. These results demonstrated that KCNJ10 (rs1186689) polymorphisms was correlated with ASD susceptibility in Chinese Han children, and the abnormal expression of Kir2.1 and Kir4.1 in ASD model rats suggested a mechanism by which Kir channels may play a role in ASD.
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18. Tyagi V, Juneja M, Jain R. {{Sleep Problems and Their Correlates in Children with Autism Spectrum Disorder: An Indian Study}}. {Journal of autism and developmental disorders}. 2018.
Sleep problems were studied in both typically developing (TD) children and those with autism spectrum disorder (ASD) using the Sleep Disturbance Scale for Children. Factors associated with these problems were also studied in children with ASD. Seventy-three children with ASD and their age and sex matched TD controls in age group of 3-12 years were enrolled in the study. Higher sleep problems were found in children with ASD than TD children. Most common sleep problem reported in children with ASD was Sleep Wake Transition Disorders, followed by Disorder of Initiation and Maintenance; while in TD controls, it was Sleep Breathing Disorders. Apart from severity of Autism; hyperactivity, sensory issues and poor motor skills were significantly associated with sleep problems, which may be important targets for intervention in children with sleep problems.
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19. Urdaneta KE, Castillo MA, Montiel N, Semprun-Hernandez N, Antonucci N, Siniscalco D. {{Autism Spectrum Disorders: Potential Neuro-Psychopharmacotherapeutic Plant-Based Drugs}}. {Assay and drug development technologies}. 2018.
Over the years, scientific researches have validated the healing benefits of many psychopharmacotherapeutic plant-based drugs to ameliorate psychiatric disorders. In contrast, the use of chemical procedures to isolate and purify specific compounds from plants that have been used to treat autism spectrum disorders (ASDs) and its clinical features may contribute to improve the quality of life of many patients. Also, herbal pharmacological treatments could improve the core symptoms of autism with fewer side effects. This review will focus on the uses and actions of phytopharmaceuticals in the behavioral conditions of ASDs. A large number of natural compound-based plant drugs have been tested in murine models of autism and in clinical trials with remarkable success in reversing the core and associated behaviors with autism such as flavonoids, cannabinoids, curcuminoids, piperine, resveratrol, and bacosides. This plant-based drug alternative is safer given that many psychiatric disorders and neurodegenerative pathologies do not often respond well to currently prescribed medications or have significant side effects. However, it is noteworthy to consider the need for large clinical trials to determine safety and efficacy. Many results are based on case reports or small size samples, and often the studies are open label. Standardization of procedures (i.e., purity and concentrations) and quality controls are strictly required to ensure the absence of side effects.
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20. Waddington F, Hartman C, de Bruijn Y, Lappenschaar M, Oerlemans A, Buitelaar J, Franke B, Rommelse N. {{An emotion recognition subtyping approach to studying the heterogeneity and comorbidity of autism spectrum disorders and attention-deficit/hyperactivity disorder}}. {Journal of neurodevelopmental disorders}. 2018; 10(1): 31.
BACKGROUND: Emotion recognition dysfunction has been reported in both autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). This suggests that emotion recognition is a cross-disorder trait that may be utilised to understand the heterogeneous psychopathology of ASD and ADHD. We aimed to identify emotion recognition subtypes and to examine their relation with quantitative and diagnostic measures of ASD and ADHD to gain further insight into disorder comorbidity and heterogeneity. METHODS: Factor mixture modelling was used on speed and accuracy measures of auditory and visual emotion recognition tasks. These were administered to children and adolescents with ASD (N = 89), comorbid ASD + ADHD (N = 64), their unaffected siblings (N = 122), ADHD (N = 111), their unaffected siblings (N = 69), and controls (N = 220). Identified classes were compared on diagnostic and quantitative symptom measures. RESULTS: A four-class solution was revealed, with the following emotion recognition abilities: (1) average visual, impulsive auditory; (2) average-strong visual and auditory; (3) impulsive/imprecise visual, average auditory; (4) weak visual and auditory. The weakest performing class (4) contained the highest percentage of patients (66.07%) and the lowest percentage controls (10.09%), scoring the highest on ASD/ADHD measures. The best performing class (2) demonstrated the opposite: 48.98% patients, 15.26% controls with relatively low scores on ASD/ADHD measures. CONCLUSIONS: Subgroups of youths can be identified that differ both in quantitative and qualitative aspects of emotion recognition abilities. Weak emotion recognition abilities across sensory domains are linked to an increased risk for ASD as well as ADHD, although emotion recognition impairments alone are neither necessary nor sufficient parts of these disorders.
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21. Zhang F, Kang Y, Wang M, Li Y, Xu T, Yang W, Song H, Wu H, Shu Q, Jin P. {{Fragile X mental retardation protein modulates the stability of its m6A-marked messenger RNA targets}}. {Human molecular genetics}. 2018; 27(22): 3936-50.
N6-methyladenosine (m6A) is the most prevalent internal modification of mammalian messenger RNAs (mRNAs) and long non-coding RNAs. The biological functions of this reversible RNA modification can be interpreted by cytoplasmic and nuclear ‘m6A reader’ proteins to fine-tune gene expression, such as mRNA degradation and translation initiation. Here we profiled transcriptome-wide m6A sites in adult mouse cerebral cortex, underscoring that m6A is a widespread epitranscriptomic modification in brain. Interestingly, the mRNA targets of fragile X mental retardation protein (FMRP), a selective RNA-binding protein, are enriched for m6A marks. Loss of functional FMRP leads to Fragile X syndrome (FXS), the most common inherited form of intellectual disability. Transcriptome-wide gene expression profiling identified 2035 genes differentially expressed in the absence of FMRP in cortex, and 92.5% of 174 downregulated FMRP targets are marked by m6A. Biochemical analyses indicate that FMRP binds to the m6A sites of its mRNA targets and interacts with m6A reader YTHDF2 in an RNA-independent manner. FMRP maintains the stability of its mRNA targets while YTHDF2 promotes the degradation of these mRNAs. These data together suggest that FMRP regulates the stability of its m6A-marked mRNA targets through YTHDF2, which could potentially contribute to the molecular pathogenesis of FXS.
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22. Zhang W, Eshghi M. {{Brief Report: Regional Variations in Characteristics of ASD Hospitalizations in the U.S}}. {Journal of autism and developmental disorders}. 2018.
Regional differences in ASD inpatient care remain understudied. We used the Nationwide Inpatient Sample to examine contributory causes and potential determinants associated with regional variations in ASD hospitalizations. We performed univariate and multivariate analyses to identify differences in ASD hospitalizations across four U.S. Census Bureau-defined regions. Our results revealed considerable variations in ASD hospitalizations across U.S. regions. Compared with patients in the Northeast, those in the Midwest, South, and West were less likely to be hospitalized for ASD. Significant differences were observed among regions with regard to the effect of health insurance type, hospital length of stay, hospital bed size, hospital location and teaching status on ASD hospitalizations. The region-specific analysis provides direction for further investigation.
