Pubmed du 14/01/21
1. Adak P, Sinha S, Banerjee N. An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders. J Autism Dev Disord ;2021 (Jan 13)
In this pilot study, we aim to identify the role of few genetic variants of GABA-receptor type A subunits GABRB3 (rs4906902, rs7171660), GABRG3 (rs208129, rs140679), GABRA5 (rs 140681) in the aetiology of autism spectrum disorders in a population of West Bengal. 192 ASD probands, their parents and 184 ethnically-matched healthy controls were recruited for the study. The rs4906902G and the rs140679T conferred significant risk towards ASD. rs7171660 and rs140679 had transmission bias in the family. Neither alleles of rs 208129 and rs 140681 showed significant over-representation in either groups. All these variants were associated with at least one deficit in ASD-associated phenotypes like ‘relating to people’, ‘Imitation’, ’emotional response’, ‘body use’, ‘taste, smell, touch response’ and ‘activity levels’.
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2. An KM, Ikeda T, Hasegawa C, Yoshimura Y, Tanaka S, Saito DN, Yaoi K, Iwasaki S, Hirosawa T, Jensen O, Kikuchi M. Aberrant brain oscillatory coupling from the primary motor cortex in children with autism spectrum disorders. Neuroimage Clin ;2021 (Jan 14) ;29:102560.
Autism spectrum disorder (ASD) often involves dysfunction in general motor control and motor coordination, in addition to core symptoms. However, the neural mechanisms underlying motor dysfunction in ASD are poorly understood. To elucidate this issue, we focused on brain oscillations and their coupling in the primary motor cortex (M1). We recorded magnetoencephalography in 18 children with ASD, aged 5 to 7 years, and 19 age- and IQ-matched typically-developing children while they pressed a button during a video-game-like motor task. The motor-related gamma (70 to 90 Hz) and pre-movement beta oscillations (15 to 25 Hz) were analyzed in the primary motor cortex using an inverse method. To determine the coupling between beta and gamma oscillations, we applied phase-amplitude coupling to calculate the statistical dependence between the amplitude of fast oscillations and the phase of slow oscillations. We observed a motor-related gamma increase and a pre-movement beta decrease in both groups. The ASD group exhibited a reduced motor-related gamma increase and enhanced pre-movement beta decrease in the ipsilateral primary motor cortex. We found phase-amplitude coupling, in which high-gamma activity was modulated by the beta rhythm in the primary motor cortex. Phase-amplitude coupling in the ipsilateral primary motor cortex was reduced in the ASD group compared with the control group. Using oscillatory changes and their couplings, linear discriminant analysis classified the ASD and control groups with high accuracy (area under the receiver operating characteristic curve : 97.1%). The current findings revealed alterations in oscillations and oscillatory coupling, reflecting the dysregulation of motor gating mechanisms in ASD. These results may be helpful for elucidating the neural mechanisms underlying motor dysfunction in ASD, suggesting the possibility of developing a biomarker for ASD diagnosis.
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3. Bacchin R, Salgarello M, Trentin M, Zanette G, Tamburin S. Brain 18F-FDG and 18F-Flumetamol PET Imaging of Fragile X-Associated Tremor Ataxia Syndrome. Clin Nucl Med ;2021 (Jan 13)
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare movement disorder caused by a 55-to-200 CGG-trinucleotide expansion premutation in the FMR1 gene. Core diagnostic criteria are tremor, ataxia, and T2-weighted hyperintensity of the middle cerebellar peduncles on MRI, but FXTAS encompass a broad spectrum of neurological symptoms. FXTAS pathophysiology is largely unknown, and some animal models and neuropathology findings suggest possible overlap with Alzheimer disease. We report the combined PET imaging of a genetically confirmed FXTAS patient, presenting reduced temporal-frontal 18F-FDG uptake, and pathological cortical deposition of amyloid to 18F-flumetamol PET scan. This report may offer clues to FXTAS pathophysiology.
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4. Chae J, Cho GJ, Oh MJ, Park K, Han SW, Choi SJ, Oh SY, Roh CR. In utero exposure to ritodrine during pregnancy and risk of autism in their offspring until 8 years of age. Sci Rep ;2021 (Jan 13) ;11(1):1146.
Beta-2 adrenergic receptor (B2AR) agonists, used as asthma treatments and tocolytics during pregnancy, have recently been reported to be associated with autism in their offspring. However, the particular link between autism and ritodrine, a common type of B2AR agonist used solely as tocolytics, has never been substantiated with any nationwide database. Thus, we aimed to examine the association between in utero exposure of ritodrine and the risk of autism in their offspring using a national database. This population-based cohort study was conducted by merging the Korea National Health Insurance claims database and National Health Screening Program for Infants and Children database. These databases included all women who had delivered singleton between January 2007 and December 2008 in Korea. Out of the total 770,016 mothers, 30,959 (4.02%) were exposed to ritodrine during pregnancy, and 5583 (0.73%) of their children were identified as having autism, defined until 8 years of age. According to our analysis, the overall cumulative incidence of autism up to 8 years was 1.37% in ritodrine exposure group and 0.70% in ritodrine non-exposure group (p < 0.05, log-rank test). By Cox proportional hazard analysis, use of ritodrine in preterm birth was associated with significantly higher hazard of autism [adjusted hazard ratio : 1.23, 95% CI 1.04-1.47], after adjusting for confounding variables including maternal age, parity, cesarean section, preterm labor, steroid use, birth weight, gender, and preeclampsia. Thus, in utero exposure to ritodrine was associated with an increased risk of autism in their offspring.
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5. Ferman S. Morpholexical Processes in Children with Autism Spectrum Disorder : Evidence from Artificial Word Learning. Folia Phoniatr Logop ;2021 (Jan 13):1-15.
OBJECTIVES : This study aims to investigate the ability of high-functioning children with autism spectrum disorder and normal language (ALN) to learn artificial words, and to investigate their ability to use their knowledge of morphophonological patterns for this learning. METHODS : Children with ALN and typically developing (TD) children, matched for cognitive and language measures, learned 8 artificial Hebrew words during two daily practice sessions by means of identification and naming tasks. Half the words were constructed from existing morphophonological patterns, and the other half were constructed from pseudo-morphophonological patterns. The two types of words allowed the investigation of the participants’ ability to use their knowledge of morphophonological patterns (morpholexical processes) for word learning. Both accuracy and speed were measured. RESULTS : The ALN group improved incrementally at a rate (slope) similar to that of the TD group in identifying and naming the artificial words, in both accuracy and speed. However, the ALN group were slower than their TD peers in learning to identify the artificial words. Both groups demonstrated higher accuracy and faster speed in both tasks in learning the artificial words with existing morphophonological patterns than those with pseudo-patterns. However, this gap was smaller in the ALN group in the accuracy of naming and marginal in speed of identification. CONCLUSIONS : Children with ALN possess a lexical learning mechanism that is qualitatively not atypical but may be less efficient than that of their TD peers, including exploiting knowledge of morphophonological patterns – where such patterns exist – for word learning.
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6. Fu SC, Lee CH, Wang H. Exploring the Association of Autism Spectrum Disorders and Constipation through Analysis of the Gut Microbiome. Int J Environ Res Public Health ;2021 (Jan 14) ;18(2)
Over the past two decades, research into the role of the gut microbiome in regulating the central nervous system has rapidly increased. Several neurodevelopmental diseases have been linked to the unbalance of gut microbiota, including autism. Children on the autism spectrum often suffer from gastrointestinal symptoms, including constipation, which is four times more prevalent than it is in children without autism spectrum disorders (ASD). Although studies in animals have shown the crucial role of the microbiota in key aspects of neurodevelopment, there is currently no consensus on how the alteration of microbial composition affects the pathogenesis of ASD, let alone how it exerts an impact on the following comorbidities. In our study, we were able to control the effects of constipation on gut dysbiosis and distinguish neuropathological-related and gastrointestinal-related bacteria in ASD patients separately. By analyzing published data, eight additional bacteria significantly altered in autistic individuals were identified in our study. All of them had a decreased relative abundance in ASD patients, except Lactobacillaceae and Peptostreptococcaceae. Eighteen and eleven bacteria were significantly correlated with ASD symptoms and constipation, respectively. Among those, six bacteria were overlapped between the groups. We have found another six bacteria highly associated with constipation status in ASD patients only. By conducting Welch’s t-test, we were able to demonstrate the critical roles of microbes in ASD core and gastrointestinal symptoms and raised the hypotheses of their confounding and mediating effects on the relationship between the two symptoms.
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7. Grigioni G, Saleh C, Jaszczuk P, Wand D, Wilmes S, Hund-Georgiadis M. Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration ? A Case Report. Case Rep Neurol ;2020 (Sep-Dec) ;12(3):466-471.
Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the FMR1gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.
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8. Hannan AJ. Repeat DNA expands our understanding of autism spectrum disorder. Nature ;2021 (Jan) ;589(7841):200-202.
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9. Hashimoto K, Hammock BD. Reply to Reeves and Dunn : Risk for autism in offspring after maternal glyphosate exposure. Proc Natl Acad Sci U S A ;2021 (Jan 12) ;118(2)
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10. Hiremath CS, Sagar KJV, Yamini BK, Girimaji AS, Kumar R, Sravanti SL, Padmanabha H, Vykunta Raju KN, Kishore MT, Jacob P, Saini J, Bharath RD, Seshadri SP, Kumar M. Emerging behavioral and neuroimaging biomarkers for early and accurate characterization of autism spectrum disorders : a systematic review. Transl Psychiatry ;2021 (Jan 13) ;11(1):42.
The possibility of early treatment and a better outcome is the direct product of early identification and characterization of any pathological condition. Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social communication, restricted, and repetitive patterns of behavior. In recent times, various tools and methods have been developed for the early identification and characterization of ASD features as early as 6 months of age. Thorough and exhaustive research has been done to identify biomarkers in ASD using noninvasive neuroimaging and various molecular methods. By employing advanced assessment tools such as MRI and behavioral assessment methods for accurate characterization of the ASD features and may facilitate pre-emptive interventional and targeted therapy programs. However, the application of advanced quantitative MRI methods is still confined to investigational/laboratory settings, and the clinical implication of these imaging methods in personalized medicine is still in infancy. Longitudinal research studies in neurodevelopmental disorders are the need of the hour for accurate characterization of brain-behavioral changes that could be monitored over a period of time. These findings would be more reliable and consistent with translating into the clinics. This review article aims to focus on the recent advancement of early biomarkers for the characterization of ASD features at a younger age using behavioral and quantitative MRI methods.
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11. Ivanov I, Pacheva I, Timova E, Iordanova R, Galabova F, Gaberova K, Petkova A, Kotetarov V, Panova M, Tonchev N, Franz L. The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria. Diagnostics (Basel) ;2021 (Jan 11) ;11(1)
Diagnosis of autism spectrum disorder (ASD) before the age of three years is a challenge. Analyzing the present practice may help reaching that goal. AIM : To investigate developmental abnormalities and diagnostic pathway of ASD patients in pediatric practice. METHODS : Retrospective cross-sectional study of 192 children aged 13 months to 17 years 11 months (average 4 years 9 months), investigated in an outpatient and hospital setting from January 2015 to June 2018 by a semi-structured history and clinical examination, and diagnosed with ASD by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria. RESULTS : Behavioral peculiarities were detected in the history of the first two years of life in 74.8% of the subjects. The first developmental abnormalities were noticed by the parents at ages from 8 to 36 months (mean 15.6 months) and were predominantly in speech (in 94.6%) and non-verbal communication (11.3%). Developmental regression was reported in 42.1% of the patients occurring between the ages of 6 and 50 months (mean 17.9 months), affecting most commonly speech (88.4% of cases), non-verbal communication (29.2%), and behavior (12.8%). By history, the first manifestations of ASD were noticed at ages from 8 months to 84 months (mean 18.5 months), and were disorders of expressive speech (in 66.7% of cases), receptive speech (in 45.8%), non-verbal communication (35.4%), behavior (27.6%), play (8.9%), socialization (5.7%), and joint attention (2.1%). The most common motive for specialized consultation was delay in language development-in 84.6% of children. The age of ASD diagnosis varied between 12 and 132 months (mean 39.7 months), and the time period between first ASD manifestations and diagnosis was in the range of 0 to 79 months (mean 23.3 months). Many symptoms of abnormal social communication, unnoticed by parents, were detected objectively in more than 95% of the cases-absent or rare spontaneous or reciprocal smile ; lack of sharing of interest or affect ; abnormal eye contact ; lack of finger pointing ; lack of gaze to a pointed object ; poor facial expressions ; lack of imaginary play, etc. Conclusions : Almost two years are needed for diagnosing abnormal development in other domains besides speech in ASD patients. Diagnosis before the age of three years can be achieved by focusing parents’ and pediatricians’ attention on social communication and behavior in patients with speech delay or developmental regression.
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12. Jacobs D, Steyaert J, Dierickx K, Hens K. [Autism spectrum disorder diagnosis in young children : a clinical-ethical study on the experiences of parents and physicians]. Tijdschr Psychiatr ;2020 ;62(12):1059-1066.
BACKGROUND After decades of research and clinical experience, autism spectrum disorder (ASD) turns out to be heterogeneous in every sense, including phenotype and etiology. How is this heterogeneous view translated in information that is useful and significant to parents and clinicians ?
AIM : To formulate recommendations with regard to clinical ASD care in young children.
METHOD : We conducted in-depth interviews on how parents (11 mothers and 6 fathers of 11 children) and physicians (n = 16) view and experience a young child’s ASD diagnosis. The interviews were analysed in Nvivo 11 according to the guidelines of interpretative phenomenological analysis.
RESULTS : The interviewed parents and physicians addressed psycho-relational implications of an ASD diagnosis as much as treatment-oriented implications. Twelve months after their child got an ASD diagnosis, some disappointment regarding these implications led parents to a pragmatic understanding of an ASD diagnosis.
CONCLUSION : Our results may be useful to both clinicians and policy makers with regard to clinical ASD care in young children. An ASD diagnosis in itself may be of limited help to parents and clinicians but can be of use if it is embedded in a request-oriented diagnostic process guided by a communication model of shared decision making and aimed at elaborating a treatment-oriented profile of the child.
13. Jordan R, Kalvin CB, Ibrahim K, Sukhodolsky DG. Parent Emotion Socialization in Children with Autism Spectrum Disorder and Co-Occurring Anxiety. Res Child Adolesc Psychopathol ;2021 (Jan) ;49(1):125-137.
Although parents’ socialization of children’s emotional experiences and expression has been widely studied in typically developing (TD) populations, these processes have been largely unexplored in families of children with autism spectrum disorder (ASD). The present study examined parent emotion socialization in a well-characterized sample of verbally fluent children with ASD and comorbid anxiety disorders. Participants included 64 children, aged 8-15 years, who had ASD and co-occurring anxiety and 24 matched TD children without psychiatric disorders. Parents completed ratings of their responses to their children’s emotional experiences using the Coping with Children’s Negative Emotions Scale (CCNES), and both parents and children completed ratings of child anxiety using the Multidimensional Anxiety Rating Scale (MASC). Parents of children with ASD and anxiety did not differ from parents of TD children without psychiatric disorders in their endorsement of different emotion socialization practices. However, among children with ASD and anxiety, greater anxiety was associated with more emotion-focused responses from parents, and for children with less ASD symptom severity, lower levels of anxiety were associated with more punitive responses from parents. Results suggest that certain types of more directive emotion socialization approaches may be associated with lower anxiety in children with ASD, whereas emotion socialization approaches focused on altering the child’s emotional experiences may be associated with greater anxiety in this population. While it is likely that parent emotion socialization practices impact children’s emotional experiences of anxiety, it is also likely that children with distinct profiles of anxiety and ASD symptomology elicit specific styles of emotion socialization from parents.
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14. Kaur I, Behl T, Aleya L, Rahman MH, Kumar A, Arora S, Akter R. Role of metallic pollutants in neurodegeneration : effects of aluminum, lead, mercury, and arsenic in mediating brain impairment events and autism spectrum disorder. Environ Sci Pollut Res Int ;2021 (Jan 14)
Autism spectrum disorder (ASD) is a developmental disorder of the brain characterized by shortfall in the social portfolio of an individual and abbreviated interactive and communication aspects rendering stereotypical behavior and pitfalls in a child’s memory, thinking, and learning capabilities. The incidence of ASD has accelerated since the past decade, portraying environment as one of the primary assets, comprising of metallic components aiming to curb the neurodevelopmental pathways in an individual. Many regulations like Clean Air Act and critical steps taken by countries all over the globe, like Sweden and the USA, have rendered the necessity to study the effects of environmental metallic components on ASD progression. The review focuses on the primary metallic components present in the environment (aluminum, lead, mercury, and arsenic), responsible for accelerating ASD symptoms by a set of general mechanisms like oxidative stress reduction, glycolysis suppression, microglial activation, and metalloprotein disruption, resulting in apoptotic signaling, neurotoxic effects, and neuroinflammatory responses. The effect of these metals can be retarded by certain protective strategies like chelation, dietary correction, certain agents (curcumin, mangiferin, selenium), and detoxification enhancement, which can necessarily halt the neurodegenerative effects.
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15. Luebbert C, Stoyanov E, Sadowski G. Phase behavior of ASDs based on hydroxypropyl cellulose. Int J Pharm X ;2021 (Dec) ;3:100070.
Novel polymeric carriers for amorphous solid dispersions (ASDs) are highly demanded in pharmaceutical industry to improve the bioavailability of poorly-soluble drug candidates. Besides established polymer candidates, hydroxypropyl celluloses (HPC) comes more and more into the focus of ASD production since they have the availability to stabilize drug molecules in aqueous media against crystallization. The thermodynamic long-term stability of HPC ASDs with itraconazole and fenofibrate was predicted in this work with PC-SAFT and compared to three-months enduring long-term stability studies. The glass-transition temperature is a crucial attribute of a polymer, but in case of HPC hardly detectable by differential scanning calorimetry. By investigating the glass transition of HPC blends with a miscible polymer, we were for the first time able to estimate the HPC glass transition. Although both, fenofibrate and itraconazole reveal a very low crystalline solubility in HPC regardless of the HPC molecular weight, we observed that low-molecular weight HPC grades such as HPC-UL prevent fenofibrate crystallization for a longer period than the higher molecular weight HPC grades. As predicted, the ASDs with higher drug load underwent amorphous phase separation according to the differential scanning calorimetry thermograms. This work thus showed that it is possible to predict critical drug loads above which amorphous phase separation and/or crystallization occurs in HPC ASDs.
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16. Marawar R, Klinger N, Tarbox-Berry SI, Mittal S, Shah AK. Atypical representation of sensorimotor cortex in a patient with autism and epilepsy confirmed by direct electrocortical stimulation. Epilepsy Behav Rep ;2021 ;15:100403.
Prior studies have used functional neuroimaging to demonstrate that the organization of the autistic brain is different from that of the non-autistic brain. Similarly, patients with epilepsy have also shown cortical reorganization. We present a case study that provides direct confirmation of disorganized sensorimotor distribution in a patient with autism spectrum disorder and epilepsy. To our knowledge, this is the first time cortical mapping directly showing abnormal cortical organization in a patient with autism spectrum disorder and epilepsy has been reported in the literature.
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17. May T, Brignell A, Williams K. Parent-reported Autism Diagnostic Stability and Trajectories in the Longitudinal Study of Australian Children. Autism Res ;2021 (Jan 14)
This study aimed to explore the stability of parent-reported diagnosis of Autism Spectrum Disorder (ASD) and factors influencing the trajectories in two cohorts from the prospective Longitudinal Study of Australian Children (LSAC). Parent-reported ASD diagnosis was collected for children from 6 years of age in a Birth cohort and 10 years of age in a Kinder cohort ; allowing for exploration of diagnostic stability at age 6, 8, 10, and 12 years (Birth cohort) and 10, 12, 14, 16 years (Kinder cohort). Children were grouped based on persisting, desisting, inconsistent and late (diagnosis after 6 years-Birth cohort ; after 10 years-Kinder) subgroups over four timepoints. Multinomial logistic regression explored predictors of diagnostic trajectories ; generalized estimating equations examined trajectories of emotional and behavioral problems. Of 66 Birth cohort children parent-reported to have ASD at age 6, with data at all four time points, 14% did not at 12 years ; of 73 Kinder cohort children at age 10 years, 26% no longer had parent-reported ASD at 16 years. Children with late diagnoses showed increasing trajectories of emotional and behavioral problems, while children with persisting or desisting diagnoses showed decreasing trajectories. Between 86% and 74% had a reported ASD diagnosis after 6 years. Findings indicate that children with ASD need services and supports that can adapt to their changing needs, which may be increasing, decreasing or different. This has implications for the provision of services and funding. LAY SUMMARY : This study explored how consistent parent-reported ASD diagnosis is over time in two groups of children from the Longitudinal Study of Australian Children (LSAC). Although up to 26% of children no longer had parent-reported ASD after 6-years follow up, persisting or late trajectories were more common. The outcome of late onset trajectories requires ongoing review.
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18. Mitra I, Huang B, Mousavi N, Ma N, Lamkin M, Yanicky R, Shleizer-Burko S, Lohmueller KE, Gymrek M. Patterns of de novo tandem repeat mutations and their role in autism. Nature ;2021 (Jan) ;589(7841):246-250.
Autism spectrum disorder (ASD) is an early-onset developmental disorder characterized by deficits in communication and social interaction and restrictive or repetitive behaviours(1,2). Family studies demonstrate that ASD has a substantial genetic basis with contributions both from inherited and de novo variants(3,4). It has been estimated that de novo mutations may contribute to 30% of all simplex cases, in which only a single child is affected per family(5). Tandem repeats (TRs), defined here as sequences of 1 to 20 base pairs in size repeated consecutively, comprise one of the major sources of de novo mutations in humans(6). TR expansions are implicated in dozens of neurological and psychiatric disorders(7). Yet, de novo TR mutations have not been characterized on a genome-wide scale, and their contribution to ASD remains unexplored. Here we develop new bioinformatics methods for identifying and prioritizing de novo TR mutations from sequencing data and perform a genome-wide characterization of de novo TR mutations in ASD-affected probands and unaffected siblings. We infer specific mutation events and their precise changes in repeat number, and primarily focus on more prevalent stepwise copy number changes rather than large expansions. Our results demonstrate a significant genome-wide excess of TR mutations in ASD probands. Mutations in probands tend to be larger, enriched in fetal brain regulatory regions, and are predicted to be more evolutionarily deleterious. Overall, our results highlight the importance of considering repeat variants in future studies of de novo mutations.
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19. Mulé CM, Lavelle TA, Sliwinski SK, Wong JB. Shared Decision-Making During Initial Diagnostic and Treatment Planning Visits for Children with Autism Spectrum Disorder. J Dev Behav Pediatr ;2021 (Jan 13)
OBJECTIVE : Although shared decision-making (SDM) can improve patient engagement, adherence, and outcomes, evidence on the use of SDM within the context of autism spectrum disorder (ASD) initial diagnosis and treatment planning remains limited. The goal of this study was to objectively assess the occurrence of SDM in these visits and to compare this assessment with parent and provider perceptions of SDM in the same encounter. METHODS : After audio-recording and transcribing initial clinical visits between parents (n = 22) and developmental behavioral pediatricians (n = 6) discussing the diagnosis of ASD and treatment options, we used the OPTION5 Item scale to assess the occurrence of SDM. Afterward, parents and providers completed the OPTION5 Item, and parents also participated in a semistructured qualitative interview. Analysis consisted of descriptive statistics for OPTION5 Item scores and a modified grounded theory framework for interviews. RESULTS : Low levels of SDM were observed, with 41% of visits having no elements of SDM. On average, visits scored 1.1 of a possible 20 points on the OPTION5 Item scale for SDM. By contrast, parents and providers indicated on the OPTION5 Item scale that providers made a « moderate » to « skilled » effort to engage parents in SDM. Qualitative interviews with parents were consistent with their OPTION5 Item ratings. CONCLUSION : The level of SDM determined by parent and provider reports was higher than the level of SDM determined by objective observation using a standard validated rating method. The findings reinforce the need for further research into barriers and facilitators of SDM methods and outcomes within ASD.
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20. Paudel R, Singh S. Selection of Young Animal Models of Autism over Adult : Benefits and Limitations. Integr Psychol Behav Sci ;2021 (Jan 14)
Autism is a complex neurodevelopmental broad-spectrum disorder characterized by social interaction, and aberrant restrictive and repetitive behavior. The complex pathophysiology and unexplored drug targets make it difficult to standardize and validate the animal models of autism. The review was purposed for determining the benefits of younger animal models over adult models of autism. Similarly, animal models with respect to age, sex, body weight, number of animals used, along with autism inducing agents have been reviewed in this article. The differentiation of behavioral parameters has shown the benefits in the selection of younger animal models. Thus, we conclude that young and adolescence animal models of autism will be supporting for early detection and interventions with significant results.
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21. Peng J, Zhou Y, Wang K. Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism. Sci Rep ;2021 (Jan 13) ;11(1):952.
It is well established that epilepsy and autism spectrum disorder (ASD) commonly co-occur ; however, the underlying biological mechanisms of the co-occurence from their genetic susceptibility are not well understood. Our aim in this study is to characterize genetic modules of subgroups of epilepsy and autism genes that have similar phenotypic manifestations and biological functions. We first integrate a large number of expert-compiled and well-established epilepsy- and ASD-associated genes in a multiplex network, where one layer is connected through protein-protein interaction (PPI) and the other layer through gene-phenotype associations. We identify two modules in the multiplex network, which are significantly enriched in genes associated with both epilepsy and autism as well as genes highly expressed in brain tissues. We find that the first module, which represents the Gene Ontology category of ion transmembrane transport, is more epilepsy-focused, while the second module, representing synaptic signaling, is more ASD-focused. However, because of their enrichment in common genes and association with both epilepsy and ASD phenotypes, these modules point to genetic etiologies and biological processes shared between specific subtypes of epilepsy and ASD. Finally, we use our analysis to prioritize new candidate genes for epilepsy (i.e. ANK2, CACNA1E, CACNA2D3, GRIA2, DLG4) for further validation. The analytical approaches in our study can be applied to similar studies in the future to investigate the genetic connections between different human diseases.
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22. Ptomey LT, Willis EA, Reitmeier K, Dreyer Gillette ML, Sherman JR, Sullivan DK. Comparison of energy intake assessed by image-assisted food records to doubly labelled water in adolescents with intellectual and developmental disabilities : a feasibility study. J Intellect Disabil Res ;2021 (Jan 14)
BACKGROUND : There are currently no validated methods for energy intake assessment in adolescents with intellectual and developmental disabilities (IDD). The purpose of this study was to determine the feasibility of collecting 3-day image-assisted food records (IARs) and doubly labelled water (TDEE(DLW) ) data in adolescents with IDD and to obtain preliminary estimates of validity and reliability for energy intake estimated by IAR. METHODS : Adolescents with IDD completed a 14-day assessment of mean daily energy expenditure using doubly labelled water. Participants were asked to complete 3-day IARs twice during the 14-day period. To complete the IAR, participants were asked to fill out a hard copy food record over three consecutive days (two weekdays/one weekend day) and to take before and after digital images of all foods and beverages consumed using an iPad tablet provided by the study. Energy intake from the IAR was calculated using Nutrition Data System for Research. Mean differences, intraclass correlations and Bland-Altman limits of agreement were performed. RESULTS : Nineteen adolescents with IDD, mean age 15.1 years, n = 6 (31.6%) female and n = 6 (31.6%) ethnic/racial minorities, enrolled in the trial. Participants successfully completed their 3-day food records and self-collected doubly labelled water urine samples for 100% of required days. Images were captured for 67.4 ± 30.1% of all meals recorded at assessment 1 and 72.3 ± 29.5% at assessment 2. The energy intake measured by IAR demonstrated acceptable test-retest reliability (intraclass correlation = 0.70). On average, IAR underestimated total energy intake by -299 ± 633 kcal/day (mean per cent error = -9.6 ± 22.2%) ; however, there was a large amount of individual variability in differences between the IAR and TDEE(DLW) (range = -1703 to 430). CONCLUSIONS : The collection of IAR and TDEE(DLW) is feasible in adolescents with IDD. While future validation studies are needed, the preliminary estimates obtained by this study suggest that in adolescents with IDD, the IAR method has acceptable reliability and may underestimate energy intake by 9%.
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23. Rixon L, Hastings RP, Kovshoff H, Bailey T. Sibling Adjustment and Sibling Relationships Associated with Clusters of Needs in Children with Autism : A Novel Methodological Approach. J Autism Dev Disord ;2021 (Jan 13)
We tested a novel methodological approach to examine associations between characteristics of autistic children and outcomes for siblings. Cluster analysis was used to define five groups of children with autism (n = 168) based on autism symptoms, adaptive behavior, pro-social behavior, and behavior problems. Primary and secondary parent carers, and siblings themselves, reported on sibling relationship quality and psychological adjustment. Siblings of autistic children with a mild symptom profile, high levels of adaptive skills, but high internalizing and externalizing problems had the highest level of these problems themselves and more conflict in their relationship. Siblings of autistic children with the most complex support needs (adaptive skills deficits, severe autism symptoms) reported lower warmth relationships but not elevated internalizing and externalizing problems.
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24. Schalbroeck R, van Velden FHP, de Geus-Oei LF, Yaqub M, van Amelsvoort T, Booij J, Selten JP. Striatal dopamine synthesis capacity in autism spectrum disorder and its relation with social defeat : an [(18)F]-FDOPA PET/CT study. Transl Psychiatry ;2021 (Jan 13) ;11(1):47.
Alterations in dopamine signalling have been implied in autism spectrum disorder (ASD), and these could be associated with the risk of developing a psychotic disorder in ASD adults. Negative social experiences and feelings of social defeat might result in an increase in dopamine functioning. However, few studies examined dopamine functioning in vivo in ASD. Here we examine whether striatal dopamine synthesis capacity is increased in ASD and associated with social defeat. Forty-four unmedicated, non-psychotic adults diagnosed with ASD and 22 matched controls, aged 18-30 years, completed a dynamic 3,4-dihydroxy-6-[(18)F]-fluoro-L-phenylalanine positron emission tomography/computed tomography ([(18)F]-FDOPA PET/CT) scan to measure presynaptic dopamine synthesis capacity in the striatum. We considered unwanted loneliness, ascertained using the UCLA Loneliness Scale, as primary measure of social defeat. We found no statistically significant difference in striatal dopamine synthesis capacity between ASD and controls (F(1,60) = 0.026, p = 0.87). In ASD, striatal dopamine synthesis capacity was not significantly associated with loneliness (β = 0.01, p = 0.96). Secondary analyses showed comparable results when examining the associative, limbic, and sensorimotor sub-regions of the striatum (all p-values > 0.05). Results were similar before and after adjusting for age, sex, smoking-status, and PET/CT-scanner-type. In conclusion, in unmedicated, non-psychotic adults with ASD, striatal dopamine synthesis capacity is not increased and not associated with social defeat.
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25. Tassanakijpanich N, Hagerman RJ, Worachotekamjorn J. Fragile X premutation and associated health conditions : A review. Clin Genet ;2021 (Jan 14)
Fragile X syndrome (FXS) is the most common single gene disorder, which causes autism and intellectual disability. The fragile X mental retardation 1 (FMR1) gene is silenced when cytosine-guanine-guanine (CGG) triplet repeats exceed 200, which is the full mutation that causes FXS. Carriers of FXS have a CGG repeat between 55 and 200, which is defined as a premutation and transcription of the gene is overactive with high levels of the FMR1 mRNA. Most carriers of the premutation have normal levels of fragile X mental retardation protein (FMRP) and a normal intelligence, but in the upper range of the premutation (120-200) the FMRP level may be lower than normal. The clinical problems associated with the premutation are caused by the RNA toxicity associated with increased FMR1 mRNA levels, although for some mildly lowered FMRP can cause problems associated with FXS. The RNA toxicity causes various health problems in the carriers including but not limited to fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X-associated neuropsychiatric disorders. Since some individuals with neuropsychiatric problems do not meet the severity for a diagnosis of a « disorder » then the condition can be labeled as fragile X premutation associated condition (FXPAC). Physicians must be able to recognize these health problems in the carriers and provide appropriate management.
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26. Thongkorn S, Kanlayaprasit S, Panjabud P, Saeliw T, Jantheang T, Kasitipradit K, Sarobol S, Jindatip D, Hu VW, Tencomnao T, Kikkawa T, Sato T, Osumi N, Sarachana T. Sex differences in the effects of prenatal bisphenol A exposure on autism-related genes and their relationships with the hippocampus functions. Sci Rep ;2021 (Jan 13) ;11(1):1241.
Our recent study has shown that prenatal exposure to bisphenol A (BPA) altered the expression of genes associated with autism spectrum disorder (ASD). In this study, we further investigated the effects of prenatal BPA exposure on ASD-related genes known to regulate neuronal viability, neuritogenesis, and learning/memory, and assessed these functions in the offspring of exposed pregnant rats. We found that prenatal BPA exposure increased neurite length, the number of primary neurites, and the number of neurite branches, but reduced the size of the hippocampal cell body in both sexes of the offspring. However, in utero exposure to BPA decreased the neuronal viability and the neuronal density in the hippocampus and impaired learning/memory only in the male offspring while the females were not affected. Interestingly, the expression of several ASD-related genes (e.g. Mief2, Eif3h, Cux1, and Atp8a1) in the hippocampus were dysregulated and showed a sex-specific correlation with neuronal viability, neuritogenesis, and/or learning/memory. The findings from this study suggest that prenatal BPA exposure disrupts ASD-related genes involved in neuronal viability, neuritogenesis, and learning/memory in a sex-dependent manner, and these genes may play an important role in the risk and the higher prevalence of ASD in males subjected to prenatal BPA exposure.
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27. Thys E, Struyven CI, De Hert M. [The stigmatisation of schizophrenia, psychosis and autism in the Flemish daily papers]. Tijdschr Psychiatr ;2020 ;62(12):1030-1039.
A considerable social stigma is attached to psychiatric disorders. Evidence shows that the portrayal of schizophrenia in the media is particularly negative. It has been proposed to replace the term schizophrenia by psychosis susceptibility or psychosis spectrum disorder.
AIM : Follow-up of the study of the seven Flemish newspapers published between 2008-2012 : to compare the degree of stigma in reporting of autism, schizophrenia and psychosis in the Flemish daily newspapers published between 2013-2017.
METHOD : Via the websites of the seven Flemish daily newspapers, we searched for all articles published between 2013 and 2017 containing the keywords autism, schizophrenia, psychosis and related terms. The collected articles (n = 5,337) were then graded to their stigmatising content.
RESULTS : In the collected articles the coverage of autism was mostly positive, whereas the coverage of schizophrenia was predominantly negative and of psychosis both positive and negative. The contrast between the reporting on autism and on schizophrenia was very substantial (p < 0.0001). The positive coverage of autism increased over time, the coverage of schizophrenia was negative in a stable way. The coverage of psychosis was only positive in the broadsheet newspapers.
CONCLUSION : The social stigma attached to schizophrenia and psychosis is poignantly reflected in the Flemish newspapers. The fact that a comparable disorder such as autism is depicted in a much more favorable way than schizophrenia indicates that a more positive image of schizophrenia is not only desirable but also achievable.
28. van den Boogert F, Sizoo B, Spaan P, Tolstra S, Bouman YHA, Hoogendijk WJG, Roza SJ. Sensory Processing and Aggressive Behavior in Adults with Autism Spectrum Disorder. Brain Sci ;2021 (Jan 14) ;11(1)
Autism spectrum disorder (ASD) may be accompanied by aggressive behavior and is associated with sensory processing difficulties. The present study aims to investigate the direct association between sensory processing and aggressive behavior in adults with ASD. A total of 101 Dutch adult participants with ASD, treated in outpatient or inpatient facilities, completed the Adult/Adolescent Sensory Profile (AASP), the Reactive-Proactive Aggression Questionnaire (RPQ), and the Aggression Questionnaire-Short Form (AQ-SF). Results revealed that sensory processing difficulties are associated with more aggressive behavior (f2=0.25), more proactive (f2=0.19) and reactive aggression (f2=0.27), more physical (f2=0.08) and verbal aggression (f2=0.13), and more anger (f2=0.20) and hostility (f2=0.12). Evidence was found for an interaction of the neurological threshold and behavioral response on total aggression and hostility. Participants with higher scores in comparison to the norm group in sensory sensitivity had the highest risk of aggressive behavior. In conclusion, clinical practice may benefit from applying detailed diagnostics on sensory processing difficulties when treating aggressive behavior in adults with ASD.
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29. Vyshedskiy A. Imagination in Autism : A Chance to Improve Early Language Therapy. Healthcare (Basel) ;2021 (Jan 11) ;9(1)
Children with autism often have difficulties in imaginative play, Theory of Mind, and playing out different scenarios in their minds. Research shows that the root of these problems may be the voluntary imagination network that involves the lateral prefrontal cortex and its long frontoposterior connections to the temporal-parietal-occipital area. Previously disconnected visuospatial issues (stimulus overselectivity and tunnel vision) and language issues (lack of comprehension of spatial prepositions and complex recursive sentences) may be explained by the same voluntary imagination deficit. This review highlights the new insights into the mechanism of voluntary imagination, its difference from involuntary imagination, and its unusually strong critical period. Clearer developmental terminology and a better understanding of voluntary imagination have the potential to facilitate communication between therapists and parents, and improve therapy outcomes in children.
