Pubmed du 27/03/20

vendredi 27 mars 2020

1. Colvin MA, Brennan L, Hogg K, Taylor H, Skinner K. More autism ? Audit of the diagnosis in Scottish children. Arch Dis Child. 2020.

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2. Das P, Johnston CF, Hossain S. Schizophrenia in a patient with full mutation of Fragile X gene and intellectual disability : a ’STEP’ towards better understanding. Psychiatric genetics. 2020.

The Fragile X syndrome is the leading hereditary cause of intellectual disability and Autism Spectrum Disorders. There is paucity of information about psychoses in such patients with little follow up. We report a case of schizophrenia in a male patient diagnosed with Fragile X syndrome. The patient has been followed up for a period of 3 years. The diagnostic and management challenges are discussed. This is a unique case of schizophrenia in Fragile X syndrome. We discuss the common molecular pathways to the expression of both schizophrenia and Fragile X syndrome. This is the first case report of schizophrenia in a patient with diagnosis of Fragile X syndrome in Australia.

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3. Devescovi R, Monasta L, Bin M, Bresciani G, Mancini A, Carrozzi M, Colombi C. A Two-Stage Screening Approach with I-TC and Q-CHAT to Identify Toddlers at Risk for Autism Spectrum Disorder within the Italian Public Health System. Brain Sci. 2020 ; 10(3).

Standardized screening programs ensure that children are monitored for early signs of autism spectrum disorder (ASD) in order to promote earlier diagnosis and intervention. The aim of this study is to identify early signs of atypical development consistent with ASD or other developmental disorders in a population of 224 low-risk toddlers through a two-stage screening approach applied at 12 and 18 months of age. We adopted two screening tools combined : 1. the Communication and Symbolic Behavior Scales Developmental Profile (CSBS DP) Infant-Toddler Checklist (I-TC) and 2. The Quantitative Checklist for Autism in Toddlers (Q-CHAT). We assessed their sensitivity and specificity related to the diagnostic outcome at 36 months. The results showed that autistic signs can be detected as early as the first year even through a few questions extrapolated from both screeners and that our model could be used as a screening procedure in the Italian public health system.

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4. El-Sisi A, Dabour S, Fattouh AM, Assar E, Naguib R, AbdelMassih AF. Biventricular reverse remodeling and relationship with mitral valve prolapse after transcatheter closure of ASD secundum, a 3D echocardiographic study. Journal of cardiovascular and thoracic research. 2020 ; 12(1) : 15-9.

Introduction : Mitral valve prolapse (MVP) is the most common anomaly of the mitral valve. Several studies have shown prevalence of MVP in atrial septal defect (ASD) especially secundum types (II). The aims of this study is to show the potential role of 3D echocardiography in improving the diagnosis of MVP and to depict the relationship between reverse remodeling of the right and left ventricles (RV, LV) and MVP after transcatheter closure of ASD II. Methods : Sixty patients underwent transcatheter closure of ASD II and completed follow up by 2D and 3D echocardiography in Cairo University Children Hospital before the procedure and at 24 hours, 1 and 6 months after the procedure. Results : 3D echocardiography was more accurate than 2D echocardiography in detecting MVP frequency in ASD II patients (75% vs. 50%). Maximum statistically significant remodeling was detected by 3D echocardiography 1 month after the procedure (RV : LV ratio by 3D echocardiography 1.9+/-0.03 24 hours after the procedure vs. 1.6+/-0.03 1 months after the procedure, P <0.01) while 2D echocardiography was delayed in detecting biventricular reverse remodeling. 3D derived RV : LV ratio was accurate in detecting MVP status with a sensitivity of 88%. Conclusion : MVP in ASD II may be related to Biventricular remodeling ; 3D echocardiography is accurate in the detection of reverse remodeling as well as MVP in ASD II patients before and after device closure.

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5. Heavner WE, Smith SEP. Resolving the Synaptic versus Developmental Dichotomy of Autism Risk Genes. Trends Neurosci. 2020 ; 43(4) : 227-41.

Genes that are mutated in Autism Spectrum Disorders (ASD) can be classified broadly as either synaptic or developmental. But what if this is a false distinction ? A recent spate of publications has provided evidence for developmental mechanisms that rely on neural activity for proper cortical development. Conversely, a growing body of evidence indicates a role for developmental mechanisms, particularly chromatin remodeling, during learning or in response to neural activity. Here, we review these recent publications and propose a model in which genes that confer ASD risk operate in signal transduction networks critical for both cortical development and synaptic homeostasis.

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6. Hendry A, Jones EJH, Bedford R, Andersson Konke L, Begum Ali J, Blte S, Brocki KC, Demurie E, Johnson M, Pijl MKJ, Roeyers H, Charman T. Atypical Development of Attentional Control Associates with Later Adaptive Functioning, Autism and ADHD Traits. J Autism Dev Disord. 2020.

Autism is frequently associated with difficulties with top-down attentional control, which impact on individuals’ mental health and quality of life. The developmental processes involved in these attentional difficulties are not well understood. Using a data-driven approach, 2 samples (N = 294 and 412) of infants at elevated and typical likelihood of autism were grouped according to profiles of parent report of attention at 10, 15 and 25 months. In contrast to the normative profile of increases in attentional control scores between infancy and toddlerhood, a minority (7-9%) showed plateauing attentional control scores between 10 and 25 months. Consistent with pre-registered hypotheses, plateaued growth of attentional control was associated with elevated autism and ADHD traits, and lower adaptive functioning at age 3 years.

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7. Kawakami S, Uono S, Otsuka S, Yoshimura S, Zhao S, Toichi M. Atypical Multisensory Integration and the Temporal Binding Window in Autism Spectrum Disorder. J Autism Dev Disord. 2020.

The present study examined the relationship between multisensory integration and the temporal binding window (TBW) for multisensory processing in adults with Autism spectrum disorder (ASD). The ASD group was less likely than the typically developing group to perceive an illusory flash induced by multisensory integration during a sound-induced flash illusion (SIFI) task. Although both groups showed comparable TBWs during the multisensory temporal order judgment task, correlation analyses and Bayes factors provided moderate evidence that the reduced SIFI susceptibility was associated with the narrow TBW in the ASD group. These results suggest that the individuals with ASD exhibited atypical multisensory integration and that individual differences in the efficacy of this process might be affected by the temporal processing of multisensory information.

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8. Lukito S, Norman L, Carlisi C, Radua J, Hart H, Simonoff E, Rubia K. Comparative meta-analyses of brain structural and functional abnormalities during cognitive control in attention-deficit/hyperactivity disorder and autism spectrum disorder. Psychological medicine. 2020 : 1-26.

BACKGROUND : People with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) have abnormalities in frontal, temporal, parietal and striato-thalamic networks. It is unclear to what extent these abnormalities are distinctive or shared. This comparative meta-analysis aimed to identify the most consistent disorder-differentiating and shared structural and functional abnormalities. METHODS : Systematic literature search was conducted for whole-brain voxel-based morphometry (VBM) and functional magnetic resonance imaging (fMRI) studies of cognitive control comparing people with ASD or ADHD with typically developing controls. Regional gray matter volume (GMV) and fMRI abnormalities during cognitive control were compared in the overall sample and in age-, sex- and IQ-matched subgroups with seed-based d mapping meta-analytic methods. RESULTS : Eighty-six independent VBM (1533 ADHD and 1295 controls ; 1445 ASD and 1477 controls) and 60 fMRI datasets (1001 ADHD and 1004 controls ; 335 ASD and 353 controls) were identified. The VBM meta-analyses revealed ADHD-differentiating decreased ventromedial orbitofrontal (z = 2.22, p < 0.0001) but ASD-differentiating increased bilateral temporal and right dorsolateral prefrontal GMV (zs 1.64, ps 0.002). The fMRI meta-analyses of cognitive control revealed ASD-differentiating medial prefrontal underactivation but overactivation in bilateral ventrolateral prefrontal cortices and precuneus (zs 1.04, ps 0.003). During motor response inhibition specifically, ADHD relative to ASD showed right inferior fronto-striatal underactivation (zs 1.14, ps 0.003) but shared right anterior insula underactivation. CONCLUSIONS : People with ADHD and ASD have mostly distinct structural abnormalities, with enlarged fronto-temporal GMV in ASD and reduced orbitofrontal GMV in ADHD ; and mostly distinct functional abnormalities, which were more pronounced in ASD.

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9. Maenner MJ, Shaw KA, Baio J, Washington A, Patrick M, DiRienzo M, Christensen DL, Wiggins LD, Pettygrove S, Andrews JG, Lopez M, Hudson A, Baroud T, Schwenk Y, White T, Rosenberg CR, Lee LC, Harrington RA, Huston M, Hewitt A, Esler A, Hall-Lande J, Poynter JN, Hallas-Muchow L, Constantino JN, Fitzgerald RT, Zahorodny W, Shenouda J, Daniels JL, Warren Z, Vehorn A, Salinas A, Durkin MS, Dietz PM. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016. Morbidity and mortality weekly report Surveillance summaries (Washington, DC : 2002). 2020 ; 69(4) : 1-12.

PROBLEM/CONDITION : Autism spectrum disorder (ASD). PERIOD COVERED : 2016. DESCRIPTION OF SYSTEM : The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance program that provides estimates of the prevalence of ASD among children aged 8 years whose parents or guardians live in 11 ADDM Network sites in the United States (Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin). Surveillance is conducted in two phases. The first phase involves review and abstraction of comprehensive evaluations that were completed by medical and educational service providers in the community. In the second phase, experienced clinicians who systematically review all abstracted information determine ASD case status. The case definition is based on ASD criteria described in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. RESULTS : For 2016, across all 11 sites, ASD prevalence was 18.5 per 1,000 (one in 54) children aged 8 years, and ASD was 4.3 times as prevalent among boys as among girls. ASD prevalence varied by site, ranging from 13.1 (Colorado) to 31.4 (New Jersey). Prevalence estimates were approximately identical for non-Hispanic white (white), non-Hispanic black (black), and Asian/Pacific Islander children (18.5, 18.3, and 17.9, respectively) but lower for Hispanic children (15.4). Among children with ASD for whom data on intellectual or cognitive functioning were available, 33% were classified as having intellectual disability (intelligence quotient [IQ] </=70) ; this percentage was higher among girls than boys (40% versus 32%) and among black and Hispanic than white children (47%, 36%, and 27%, respectively). Black children with ASD were less likely to have a first evaluation by age 36 months than were white children with ASD (40% versus 45%). The overall median age at earliest known ASD diagnosis (51 months) was similar by sex and racial and ethnic groups ; however, black children with IQ </=70 had a later median age at ASD diagnosis than white children with IQ </=70 (48 months versus 42 months). INTERPRETATION : The prevalence of ASD varied considerably across sites and was higher than previous estimates since 2014. Although no overall difference in ASD prevalence between black and white children aged 8 years was observed, the disparities for black children persisted in early evaluation and diagnosis of ASD. Hispanic children also continue to be identified as having ASD less frequently than white or black children. PUBLIC HEALTH ACTION : These findings highlight the variability in the evaluation and detection of ASD across communities and between sociodemographic groups. Continued efforts are needed for early and equitable identification of ASD and timely enrollment in services.

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10. Moskowitz LJ, Will EA, Black CJ, Roberts JE. Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome : Developmental Trajectories in Toddlers Through Young Adults. J Autism Dev Disord. 2020.

There is limited research on the trajectory of restricted and repetitive behaviors (RRBs) in fragile X syndrome (FXS), with previous studies only examining males and/or examining RRBs as a unitary construct rather than delineating subtypes of RRBs. Thus, we described the trajectory of five subtypes of RRBs in 153 males and females with FXS (aged 1-18 years) with repeated measurement over time (445 total assessments). Multilevel modeling was used to test age-related differences in RRB subtypes between males and females with FXS, controlling for nonverbal IQ. Results showed that lower-order Sensory-Motor behaviors decreased over time for both males and females, while there was no significant change in the higher-order RRBs. The trajectory between males and females differed for Self-Injury.

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11. Muncey W, Murthy P, Fersntrum A, Ray A, Thirumavalavan N, Loeb A. Sterilization of Men with Developmental Disabilities : A Historical Perspective and Modern Conundrum. Urology. 2020.

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12. Rabiee A, Vasaghi-Gharamaleki B, Samadi SA, Amiri-Shavaki Y, Alaghband-Rad J. Working Memory Deficits and its Relationship to Autism Spectrum Disorders. Iranian journal of medical sciences. 2020 ; 45(2) : 100-9.

Background : There is a wealth of research done in developed countries on the investigation of the working memory (WM) performance in people with high-functioning Autism Spectrum Disorders (ASD) (IQ>70), with different reported findings. There is a dearth of similar studies in developing countries. In addition, the findings suggest that WM is possibly influenced by culture. The present study investigated WM performance and its relationship with the symptoms of ASD and Attention Deficit Hyperactivity Disorder (ADHD). Methods : The present study is a cross-sectional comparative study between two groups of participants with high-functioning ASD, aged 8-16 years (n=30) and typically developing (n=30). This study was conducted in 2016-2017 in Tehran (Iran). The Multivariate Analyses of Variance (MANOVA) was used to compare the between-group differences on WM tasks. In addition, Pearson’s correlation coefficient was used to examine the relationship between the ASD and ADHD symptoms with WM performance. The data were statistically analyzed using the Statistical Package for the Social Sciences (SPSS), version 16. Results : It was found that in general, WM was impaired in the people with ASD. Unexpectedly, in the present study, two subscales of Social interaction and Stereotyped Behaviors of the Gilliam Autism Rating Scale-Second Edition showed a significant positive correlation respectively with a score of two WM tasks, i.e. Visual Digit Span and Digit Span Forward. Conclusion : These results showed that WM was impaired in individuals with ASD and that could have implications for intervention, but it is necessary that therapists be careful in choosing the appropriate tasks for intervention.

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13. Rodrigues DC, Mufteev M, Weatheritt RJ, Djuric U, Ha KCH, Ross PJ, Wei W, Piekna A, Sartori MA, Byres L, Mok RSF, Zaslavsky K, Pasceri P, Diamandis P, Morris Q, Blencowe BJ, Ellis J. Shifts in Ribosome Engagement Impact Key Gene Sets in Neurodevelopment and Ubiquitination in Rett Syndrome. Cell reports. 2020 ; 30(12) : 4179-96.e11.

Regulation of translation during human development is poorly understood, and its dysregulation is associated with Rett syndrome (RTT). To discover shifts in mRNA ribosomal engagement (RE) during human neurodevelopment, we use parallel translating ribosome affinity purification sequencing (TRAP-seq) and RNA sequencing (RNA-seq) on control and RTT human induced pluripotent stem cells, neural progenitor cells, and cortical neurons. We find that 30% of transcribed genes are translationally regulated, including key gene sets (neurodevelopment, transcription and translation factors, and glycolysis). Approximately 35% of abundant intergenic long noncoding RNAs (lncRNAs) are ribosome engaged. Neurons translate mRNAs more efficiently and have longer 3’ UTRs, and RE correlates with elements for RNA-binding proteins. RTT neurons have reduced global translation and compromised mTOR signaling, and >2,100 genes are translationally dysregulated. NEDD4L E3-ubiquitin ligase is translationally impaired, ubiquitinated protein levels are reduced, and protein targets accumulate in RTT neurons. Overall, the dynamic translatome in neurodevelopment is disturbed in RTT and provides insight into altered ubiquitination that may have therapeutic implications.

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14. Shaw KA, Maenner MJ, Baio J, Washington A, Christensen DL, Wiggins LD, Pettygrove S, Andrews JG, White T, Rosenberg CR, Constantino JN, Fitzgerald RT, Zahorodny W, Shenouda J, Daniels JL, Salinas A, Durkin MS, Dietz PM. Early Identification of Autism Spectrum Disorder Among Children Aged 4 Years - Early Autism and Developmental Disabilities Monitoring Network, Six Sites, United States, 2016. Morbidity and mortality weekly report Surveillance summaries (Washington, DC : 2002). 2020 ; 69(3) : 1-11.

PROBLEM/CONDITION : Autism spectrum disorder (ASD). PERIOD COVERED : 2016. DESCRIPTION OF SYSTEM : The Early Autism and Developmental Disabilities Monitoring (Early ADDM) Network, a subset of the overall ADDM Network, is an active surveillance program that estimates ASD prevalence and monitors early identification of ASD among children aged 4 years. Children included in surveillance year 2016 were born in 2012 and had a parent or guardian who lived in the surveillance area in Arizona, Colorado, Missouri, New Jersey, North Carolina, or Wisconsin, at any time during 2016. Children were identified from records of community sources including general pediatric health clinics, special education programs, and early intervention programs. Data from comprehensive evaluations performed by community professionals were abstracted and reviewed by trained clinicians using a standardized ASD surveillance case definition with criteria from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). RESULTS : In 2016, the overall ASD prevalence was 15.6 per 1,000 (one in 64) children aged 4 years for Early ADDM Network sites. Prevalence varied from 8.8 per 1,000 in Missouri to 25.3 per 1,000 in New Jersey. At every site, prevalence was higher among boys than among girls, with an overall male-to-female prevalence ratio of 3.5 (95% confidence interval [CI] = 3.1-4.1). Prevalence of ASD between non-Hispanic white (white) and non-Hispanic black (black) children was similar at each site (overall prevalence ratio : 0.9 ; 95% CI = 0.8-1.1). The prevalence of ASD using DSM-5 criteria was lower than the prevalence using Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) criteria at one of four sites that used criteria from both editions. Among sites where >/=60% of children aged 4 years had information about intellectual disability (intelligence quotient </=70 or examiner’s statement of intellectual disability documented in an evaluation), 53% of children with ASD had co-occurring intellectual disability. Of all children aged 4 years with ASD, 84% had a first evaluation at age </=36 months and 71% of children who met the surveillance case definition had a previous ASD diagnosis from a community provider. Median age at first evaluation and diagnosis for this age group was 26 months and 33 months, respectively. Cumulative incidence of autism diagnoses received by age 48 months was higher for children aged 4 years than for those aged 8 years identified in Early ADDM Network surveillance areas in 2016. INTERPRETATION : In 2016, the overall prevalence of ASD in the Early ADDM Network using DSM-5 criteria (15.6 per 1,000 children aged 4 years) was higher than the 2014 estimate using DSM-5 criteria (14.1 per 1,000). Children born in 2012 had a higher cumulative incidence of ASD diagnoses by age 48 months compared with children born in 2008, which indicates more early identification of ASD in the younger group. The disparity in ASD prevalence has decreased between white and black children. Prevalence of co-occurring intellectual disability was higher than in 2014, suggesting children with intellectual disability continue to be identified at younger ages. More children received evaluations by age 36 months in 2016 than in 2014, which is consistent with Healthy People 2020 goals. Median age at earliest ASD diagnosis has not changed considerably since 2014. PUBLIC HEALTH ACTION : More children aged 4 years with ASD are being evaluated by age 36 months and diagnosed by age 48 months, but there is still room for improvement in early identification. Timely evaluation of children by community providers as soon as developmental concerns have been identified might result in earlier ASD diagnoses, earlier receipt of evidence-based interventions, and improved developmental outcomes.

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15. Tenenbaum EJ, Carpenter KLH, Sabatos-DeVito M, Hashemi J, Vermeer S, Sapiro G, Dawson G. A Six-Minute Measure of Vocalizations in Toddlers with Autism Spectrum Disorder. Autism Res. 2020.

To improve early identification of autism spectrum disorder (ASD), we need objective, reliable, and accessible measures. To that end, a previous study demonstrated that a tablet-based application (app) that assessed several autism risk behaviors distinguished between toddlers with ASD and non-ASD toddlers. Using vocal data collected during this study, we investigated whether vocalizations uttered during administration of this app can distinguish among toddlers aged 16-31 months with typical development (TD), language or developmental delay (DLD), and ASD. Participant’s visual and vocal responses were recorded using the camera and microphone in a tablet while toddlers watched movies designed to elicit behaviors associated with risk for ASD. Vocalizations were then coded offline. Results showed that (a) children with ASD and DLD were less likely to produce words during app administration than TD participants ; (b) the ratio of syllabic vocalizations to all vocalizations was higher among TD than ASD or DLD participants ; and (c) the rates of nonsyllabic vocalizations were higher in the ASD group than in either the TD or DLD groups. Those producing more nonsyllabic vocalizations were 24 times more likely to be diagnosed with ASD. These results lend support to previous findings that early vocalizations might be useful in identifying risk for ASD in toddlers and demonstrate the feasibility of using a scalable tablet-based app for assessing vocalizations in the context of a routine pediatric visit. LAY SUMMARY : Although parents often report symptoms of autism spectrum disorder (ASD) in infancy, we are not yet reliably diagnosing ASD until much later in development. A previous study tested a tablet-based application (app) that recorded behaviors we know are associated with ASD to help identify children at risk for the disorder. Here we measured how children vocalize while they watched the movies presented on the tablet. Children with ASD were less likely to produce words, less likely to produce speechlike sounds, and more likely to produce atypical sounds while watching these movies. These measures, combined with other behaviors measured by the app, might help identify which children should be evaluated for ASD.

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