1. Birtwell KB, Platner AK, Nowinski LA. {{Exploring the use of Sidekicks! For children with autism spectrum disorder (ASD)}}. {Psychological services}. 2018.
Clinicians and educators are increasingly using technology within the context of existing therapies and teaching methodologies. The growing use of mobile clinical tools is particularly exciting for individuals with autism spectrum disorder (ASD), as technologically based interventions have been shown to be both efficacious (to target academics, adaptive behavior, disruptive behavior, etc.) and accepted in this population (Odom et al., 2015). In addition, these tools have the potential to address two significant impediments in ASD intervention, the anxiety and/or skill deficits often associated with face-to-face interactions and skill generalization outside of the therapy office (Wieckowski & White, 2017). In other words, the use of technology may serve as an important preliminary or prerequisite step for face-to-face therapeutic progress. The purpose of this paper is to present a new, interactive clinical app that explicitly utilizes an individual’s restricted interests to teach skills and improve communication. The paper will briefly review the ways in which individuals with ASD may be good candidates for technological-based interventions, explore the current role of technology in existing evidence-based therapies, and discuss the use of a new technology, Sidekicks!, that has been developed for this population. A case example will then illustrate the use of Sidekicks! and its anticipated functionality across several public service settings, including hospitals, outpatient clinics, and school systems, thereby coordinating the intervention efforts of various professionals involved in the treatment of children with ASD. Finally, limitations of the app (and of technology more generally) and the need for future research will be discussed. (PsycINFO Database Record (c) 2018 APA, all rights reserved).
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2. Bou Khalil R. {{Insulin-growth-factor-1 (IGF-1): just a few steps behind the evidence in treating schizophrenia and/or autism}}. {CNS spectrums}. 2018: 1-2.
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3. Chen YC, Chang YW, Huang YS. {{Dysregulated translation in neurodevelopmental disorders: overview of autism-risk genes involved in translation}}. {Developmental neurobiology}. 2018.
Regulated local translation – whereby specific mRNAs are transported and localized in subcellular domains where they are translated in response to regional signals – allows for remote control of gene expression to concentrate proteins in subcellular compartments. Neurons are highly polarized cells with unique features favoring local control for axonal pathfinding and synaptic plasticity, which are key processes involved in constructing functional circuits in the developing brain. Neurodevelopmental disorders are caused by genetic or environmental factors that disturb the nervous system development during prenatal and early childhood periods. The growing list of genetic mutations that affect mRNA translation raises the question of whether aberrant translatomes in individuals with neurodevelopmental disorders share common molecular features underlying their stereotypical phenotypes and, vice versa, cause a certain degree of phenotypic heterogeneity. Here, we briefly give an overview of the role of local translation during neuronal development. We take the autism-risk gene list and discuss the molecules that (perhaps) are involved in mRNA transport and translation. Both exaggerated and suppressed translation caused by mutations in those genes have been identified or suggested. Finally, we discuss some proof-of-principle regimens for use in autism mouse models to correct dysregulated translation. This article is protected by copyright. All rights reserved.
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4. Dababnah S, Rizo CF, Campion K, Downton KD, Nichols HM. {{The Relationship Between Children’s Exposure to Intimate Partner Violence and Intellectual and Developmental Disabilities: A Systematic Review of the Literature}}. {American journal on intellectual and developmental disabilities}. 2018; 123(6): 529-44.
Children exposed to intimate partner violence (IPV) can experience negative social, emotional, behavioral, and academic outcomes. A growing body of research has examined the relationship between intellectual and developmental disabilities (IDD) and IPV exposure. We systematically reviewed the literature for research exploring this relationship and found a limited number of studies meeting inclusion criteria ( N = 11). Over half (64%) identified a significant relationship between IPV and IDD, although the cross-sectional methodologies of the majority of studies (82%) prevented the ability to ascertain directionality. Further, the studies defined and measured IPV and IDD in various ways. Some studies were limited by poor external validity and small sample sizes. More research is needed to understand the intersection between IPV exposure and IDD.
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5. d’Albis MA, Guevara P, Guevara M, Laidi C, Boisgontier J, Sarrazin S, Duclap D, Delorme R, Bolognani F, Czech C, Bouquet C, Ly-Le Moal M, Holiga S, Amestoy A, Scheid I, Gaman A, Leboyer M, Poupon C, Mangin JF, Houenou J. {{Local structural connectivity is associated with social cognition in autism spectrum disorder}}. {Brain : a journal of neurology}. 2018.
The current theory implying local, short-range overconnectivity in autism spectrum disorder, contrasting with long-range underconnectivity, is based on heterogeneous results, on limited data involving functional connectivity studies, on heterogeneous paediatric populations and non-specific methodologies. In this work, we studied short-distance structural connectivity in a homogeneous population of males with high-functioning autism spectrum disorder and used a novel methodology specifically suited for assessing U-shaped short-distance tracts, including a recently developed tractography-based atlas of the superficial white matter fibres. We acquired diffusion-weighted MRI for 58 males (27 subjects with high-functioning autism spectrum disorder and 31 control subjects) and extracted the mean generalized fractional anisotropy of 63 short-distance tracts. Neuropsychological evaluation included Wechsler Adult Intelligence Scale IV (WAIS-IV), Communication Checklist-Adult, Empathy Quotient, Social Responsiveness Scale and Behaviour Rating Inventory of Executive Function-Adult (BRIEF-A). In contradiction with the models of short-range over-connectivity in autism spectrum disorder, we found that patients with autism spectrum disorder had a significantly decreased anatomical connectivity in a component comprising 13 short tracts compared to controls. Specific short-tract atypicalities in temporal lobe and insula were significantly associated with clinical manifestations of autism spectrum disorder such as social awareness, language structure, pragmatic skills and empathy, emphasizing their importance in social dysfunction. Short-range decreased anatomical connectivity may thus be an important substrate of social deficits in autism spectrum disorder, in contrast with current models.
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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. Ezell J, Hogan A, Fairchild A, Hills K, Klusek J, Abbeduto L, Roberts J. {{Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome}}. {Journal of autism and developmental disorders}. 2018.
Anxiety disorders affect ~ 15-20% of youths without neurodevelopmental disorders, with persons having autism spectrum disorder (ASD) and fragile X syndrome (FXS) at elevated risk for anxiety disorders. Few studies have compared rates and predictors of anxiety disorders in adolescents with FXS or ASD. This study directly compares rates, predictors, and medication of anxiety disorders between age-matched, male adolescents with FXS (n = 31) or ASD (n = 20). Results indicate that 51.6% of FXS and 50.0% of ASD adolescents met criteria for an anxiety disorder. Cognitive scores and ASD severity did not predict anxiety. Of those with anxiety, ~ 40% of the FXS and 20% of the ASD participants were prescribed medications for anxiety.
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8. Geary DC. {{Autism in the broader context of cognitive sex differences}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
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9. Goodwin MS, Ozdenizci O, Cumpanasoiu C, Tian P, Guo Y, Stedman A, Peura C, Mazefsky C, Siegel M, Erdogmus D, Ioannidis S. {{Predicting Imminent Aggression Onset in Minimally-Verbal Youth with Autism Spectrum Disorder Using Preceding Physiological Signals}}. {International Conference on Pervasive Computing Technologies for Healthcare : [proceedings] International Conference on Pervasive Computing Technologies for Healthcare}. 2018; 2018: 201-7.
We test the hypothesis that changes in preceding physiological arousal can be used to predict imminent aggression proximally before it occurs in youth with autism spectrum disorder (ASD) who are minimally verbal (MV-ASD). We evaluate this hypothesis through statistical analyses performed on physiological biosensor data wirelessly recorded from 20 MV-ASD youth over 69 independent naturalistic observations in a hospital inpatient unit. Using ridge-regularized logistic regression, results demonstrate that, on average, our models are able to predict the onset of aggression 1 minute before it occurs using 3 minutes of prior data with a 0.71 AUC for global, and a 0.84 AUC for person-dependent models.
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10. Greenberg DM, Warrier V, Allison C, Baron-Cohen S. {{Testing the Empathizing-Systemizing theory of sex differences and the Extreme Male Brain theory of autism in half a million people}}. {Proceedings of the National Academy of Sciences of the United States of America}. 2018.
The Empathizing-Systemizing (E-S) theory of typical sex differences suggests that individuals may be classified based on empathy and systemizing. An extension of the E-S theory, the Extreme Male Brain (EMB) theory suggests that autistic people on average have a shift towards a more masculinized brain along the E-S dimensions. Both theories have been investigated in small sample sizes, limiting their generalizability. Here we leverage two large datasets (discovery n = 671,606, including 36,648 autistic individuals primarily; and validation n = 14,354, including 226 autistic individuals) to investigate 10 predictions of the E-S and the EMB theories. In the discovery dataset, typical females on average showed higher scores on short forms of the Empathy Quotient (EQ) and Sensory Perception Quotient (SPQ), and typical males on average showed higher scores on short forms of the Autism Spectrum Quotient (AQ) and Systemizing Quotient (SQ). Typical sex differences in these measures were attenuated in autistic individuals. Analysis of « brain types » revealed that typical females on average were more likely to be Type E (EQ > SQ) or Extreme Type E and that typical males on average were more likely to be Type S (SQ > EQ) or Extreme Type S. In both datasets, autistic individuals, regardless of their reported sex, on average were « masculinized. » Finally, we demonstrate that D-scores (difference between EQ and SQ) account for 19 times more of the variance in autistic traits (43%) than do other demographic variables including sex. Our results provide robust evidence in support of both the E-S and EMB theories.
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11. Hooper JJ, Sutherland CAM, Ewing L, Langdon R, Caruana N, Connaughton E, Williams N, Greenwell-Barnden J, Rhodes G. {{Should I trust you? Autistic traits predict reduced appearance-based trust decisions}}. {British journal of psychology (London, England : 1953)}. 2018.
Facial impressions of trustworthiness guide social decisions in the general population, as shown by financial lending in economic Trust Games. As an exception, autistic boys fail to use facial impressions to guide trust decisions, despite forming typical facial trustworthiness impressions (Autism, 19, 2015a, 1002). Here, we tested whether this dissociation between forming and using facial impressions of trustworthiness extends to neurotypical men with high levels of autistic traits. Forty-six Caucasian men completed a multi-turn Trust Game, a facial trustworthiness impressions task, the Autism-Spectrum Quotient, and two Theory of Mind tasks. As hypothesized, participants’ levels of autistic traits had no observed effect on the impressions formed, but negatively predicted the use of those impressions in trust decisions. Thus, the dissociation between forming and using facial impressions of trustworthiness extends to the broader autism phenotype. More broadly, our results identify autistic traits as an important source of individual variation in the use of facial impressions to guide behaviour. Interestingly, failure to use these impressions could potentially represent rational behaviour, given their limited validity.
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12. Irwin JL, Yeates AJ, Mulhern MS, McSorley EM, Strain JJ, Watson GE, Grzesik K, Thurston SW, Love TM, Smith TH, Mruzek DW, Shamlaye CF, Monthy C, Myers GJ, Davidson PW, van Wijngaarden E. {{Maternal Gestational Immune Response and Autism Spectrum Disorder Phenotypes at 7 Years of Age in the Seychelles Child Development Study}}. {Molecular neurobiology}. 2018.
Findings from observational and experimental studies suggest that maternal inflammation during pregnancy is associated with autism spectrum disorder (ASD). We report the first study in humans to examine this association in a large prospective birth cohort. We studied 788 mother-child pairs from the Seychelles Child Development Study Nutrition Cohort 2. Thirteen inflammatory markers were measured in mothers’ serum at 28 weeks’ gestation, along with the sum of T-helper 1 (Th1) and 2 (Th2) cytokines. The Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) were administered at age 7 years to obtain information on ASD phenotype. We evaluated associations between maternal inflammatory markers and ASD phenotype using multivariable linear regression. For the SCQ, increased MCP-1 (a chemokine that is upregulated in response to pro-inflammatory cytokines) was associated with fewer ASD symptoms (B = – 0.40; 95% CI = – 0.72, – 0.09). Increased IL-4 (a cytokine that is typically associated with an enhanced anti-inflammatory response) was associated with more ASD symptoms (B = 2.10; 95% CI = 0.78, 3.43). For the SRS, higher concentrations of the anti-inflammatory cytokine IL-10 were associated with fewer ASD symptoms (B = – 0.18; 95% CI = – 0.35, – 0.01), but only after removal of outliers. No associations were observed for other markers. These findings suggest that a shift in the maternal immune balance during pregnancy may be associated with ASD symptomatology. While the use of well-established measures that capture ASD phenotypic variability is a strength of the study, measurement of peripheral immune markers only once during gestation is a limitation. Our results should be confirmed using maternal immune markers measured throughout gestation.
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13. Kalinli M, Ekinci O, Gunes S, Ekinci N. {{Autistic-Like Traits in Pena-Shokeir Syndrome}}. {Journal of autism and developmental disorders}. 2018.
Pena-Shokeir syndrome (PSS) is a rare, early lethal disease. PSS is characterized by fetal growth restriction, craniofacial deformities, multiple ankyloses and pulmonary hypoplasia. Because of the primary concern of physical health problems, psychiatric evaluation is frequently underestimated in PSS patients. Our case report describes a child with PSS who presented with autistic spectrum disorder symptoms.
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14. Kenny L, Cribb SJ, Pellicano E. {{Childhood Executive Function Predicts Later Autistic Features and Adaptive Behavior in Young Autistic People: a 12-Year Prospective Study}}. {Journal of abnormal child psychology}. 2018.
Longitudinal studies of autistic people show that the behavioral features of autism generally endure into adulthood. Yet the prognostic indicators remain far from certain, especially for cognitively able individuals. Here, we test the predictive power of specific cognitive skills, namely theory of mind and executive function, measured in childhood, on young people’s autistic features and adaptive behavior 12 years later. Twenty-eight young autistic people (2 female) were seen twice within the space of 12 years. At Time 1 (M = 5 years; 7 months, SD = 11 months), participants were assessed on components of executive function (planning, inhibition and cognitive flexibility) and theory of mind (false-belief understanding). At Time 2, 12 years later (M = 17 years 10 months, SD = 1 year; 2 months), we measured participants’ autistic features and adaptive behavior. Only Time 1 executive function skills predicted significant variance in autistic adolescents’ autistic features, over and above variance attributable to early age, intellectual ability and theory of mind skills. Furthermore, early EF skills, in addition to early verbal ability and nonverbal ability, predicted significant variance in young people’s adaptive behavior at the 12-year follow-up. These long-term longitudinal findings clearly demonstrate that executive function measured in early childhood has prognostic significance in a sample of young autistic people approaching emerging adulthood and underscore their importance as a key target for early intervention and support.
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15. Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH. {{PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2018.
Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations in PSMD12, a core component of the proteasome, underlying a neurodevelopmental disorder with intellectual disability (ID) and features of autism spectrum disorder (ASD). We performed WES on six affected siblings from a multiplex family with ID and autistic features, the affected father, and two unaffected mothers, and a trio from a simplex family with one affected child with ID and periventricular nodular heterotopia. We identified an inherited heterozygous nonsense mutation in PSMD12 (NM_002816: c.367C>T: p.R123X) in the multiplex family and a de novo nonsense mutation in the same gene (NM_002816: c.601C>T: p.R201X) in the simplex family. PSMD12 encodes a non-ATPase regulatory subunit of the 26S proteasome. We confirm the association of PSMD12 with ID, present the first cases of inherited PSMD12 mutation, and demonstrate the heterogeneity of phenotypes associated with PSMD12 mutations.
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16. Lazzaro SC, Weidinger L, Cooper RA, Baron-Cohen S, Moutsiana C, Sharot T. {{Social Conformity in Autism}}. {Journal of autism and developmental disorders}. 2018.
Humans are extremely susceptible to social influence. Here, we examine whether this susceptibility is altered in autism, a condition characterized by social difficulties. Autistic participants (N = 22) and neurotypical controls (N = 22) completed a memory test of previously seen words and were then exposed to answers supposedly given by four other individuals. Autistic individuals and controls were as likely to alter their judgements to align with inaccurate responses of group members. These changes reflected both temporary judgement changes (public conformity) and long-lasting memory changes (private conformity). Both groups were more susceptible to answers believed to be from other humans than from computer algorithms. Our results suggest that autistic individuals and controls are equally susceptible to social influence when reporting their memories.
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17. Li N, Li L, Gai Z, Li G. {{The association of auditory integration training in children with autism spectrum disorders among Chinese: A meta-analysis}}. {Bioscience reports}. 2018.
Randomized controlled trials (RCTs) have reported an inconsistent relationship about the auditory integration training (AIT) in children with autism spectrum disorders (ASD) among Chinese. The current study was to investigate the efficacy of AIT for children with ASD compared to those in control group by using meta-analysis. Relevant trials published were identified by an electronic search of PubMed, CENTRAL, EMBASE, WanFang, CNKI, and SinoMed databases up to December 31th, 2017. Outcome of interest included childhood autism rating scale (CARS), autism behavior checklist (ABC), intelligence quotient (IQ), and autism treatment evaluation checklist (ATEC). Standardized mean difference (SMD) with 95% confidence intervals (CI) was calculated using a random-effect model. Thirteen RCTs with 976 children with ASD were included for analysis. The pooled SMD showed that children with ASD had significantly lower ABC scores [summary SMD = -0.58, 95%CI= -0.79 to -0.38] and ATEC scores [summary SMD= -0.75, 95%CI= -1.05 to -0.45] in AIT group compared to that in control group. The analysis of pooled statistics put forward AIT could increase the IQ score when compared to that in control group [summary SMD= 0.59, 95%CI= 0.41 to 0.77]. A negative association was found about CARS scores between AIT group and control group. No publication bias was found and no single study had essential effect on the pooled results. In conclusions, AIT can reduce the score of ABC and ATEC and can increase the IQ score among children with ASD in Chinese. Therefore, it is recommended for Chinese children with ASD to receive AIT.
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18. Liao W. {{Psychomotor dysfunction in Rett syndrome: insights into the neurochemical and circuit roots}}. {Developmental neurobiology}. 2018.
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. Patients with RTT develop symptoms after 6-18 months of age, exhibiting characteristic movement deficits, such as ambulatory difficulties and loss of hand skills, in addition to breathing abnormalities and intellectual disability. Given the striking psychomotor dysfunction, numerous studies have investigated the underlying neurochemical and circuit mechanisms from different aspects. Here, I review the evidence linking MeCP2 deficiency to alterations in neurotransmission and neural circuits that govern psychomotor function and discuss a recently identified pathological origin likely underlying the psychomotor deficits in RTT. This article is protected by copyright. All rights reserved.
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19. Mandak K, Light J, McNaughton D. {{Digital Books with Dynamic Text and Speech Output: Effects on Sight Word Reading for Preschoolers with Autism Spectrum Disorder}}. {Journal of autism and developmental disorders}. 2018.
Despite the importance of literacy in today’s educational curriculum, learning to read is a challenge for many children with autism spectrum disorder (ASD). One of the foundational skills of early literacy learning is the ability to recognize sight words. This study used a single-subject, multiple-probe, across-participants design, to investigate the effects of a new software feature, dynamic text and speech output, on the acquisition of sight words by three pre-literate preschoolers with ASD during shared digital book reading experiences. All participants demonstrated successful acquisition of the target sight words with minimal exposure to the words. Limitations and future research directions are discussed, including the importance of investigating how the new software feature can be integrated into a more comprehensive literacy curriculum.
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20. 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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21. Sanders SJ. {{Next-Generation Sequencing in Autism Spectrum Disorder}}. {Cold Spring Harbor perspectives in medicine}. 2018.
Autism spectrum disorder (ASD) is a common disorder that causes substantial distress. Heritability studies consistently show a strong genetic contribution, raising the hope that identifying ASD-associated genetic variants will offer insights into neurobiology and ultimately therapeutics. Next-generation sequencing (NGS) enabled the identification of disruptive variants throughout protein-coding regions of the genome. Alongside large cohorts and novel statistical methods, these NGS methods revolutionized ASD gene discovery. NGS methods have also contributed substantially to functional genetic data, such as gene expression, used to understand the neurobiological consequences of disrupting these ASD-associated genes. These functional data are also critical for annotating the noncoding genome as whole-genome sequencing (WGS) begins to provide initial insights outside of protein-coding regions. NGS methods still have a major role to play, as do similarly transformative advances in stem cell and gene-editing methods, in translating genetic discoveries into a first generation of ASD therapeutics.
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22. 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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23. Yang H, Li K, Han S, Zhou A, Joe Zhou Z. {{Leveraging the Genetic Basis of Rett Syndrome to Ascertain Pathophysiology}}. {Neurobiology of learning and memory}. 2018.
Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause Rett syndrome (RTT), a progressive X-linked neurological disorder characterized by loss of developmental milestones, intellectual disability and breathing abnormality. Despite being a monogenic disorder, the pathogenic mechanisms by which mutations in MeCP2 impair neuronal function and underlie the RTT symptoms have been challenging to elucidate. The seemingly simple genetic root and the availability of genetic data from RTT patients have led to the generation and characterization of a series of mouse models recapitulating RTT-associated genetic mutations. This review focuses on the studies of RTT mouse models and describe newly obtained pathogenic insights from these studies. We also highlight the potential of studying pathophysiology using genetics-based modeling approaches in rodents and suggest a future direction to tackle the pathophysiology of intellectual disability with known or complex genetic causes.
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24. Yang X, Zou M, Pang X, Liang S, Sun C, Wang J, Fan L, Xia W, Wu L. {{The association between NCAM1 levels and behavioral phenotypes in children with autism spectrum disorder}}. {Behavioural brain research}. 2018; 359: 234-8.
Autism spectrum disorders (ASDs) are neuropsychiatric disorders associated with synaptic function and plasticity. Neural cell adhesion molecule (NCAM1) dysfunction impairs synapse formation, synaptic activity and plasticity. To explore the relationship between NCAM1 and ASD, a case-control study was conducted. This research included 40 ASD children and 39 healthy children aged 2-6 years old. We measured the levels of plasma NCAM1 in ASD and healthy control groups by ELISA kits. The severity and behavioral problems of autistic children were also examined. The level of plasma NCAM1 in ASD children was significantly lower than that in controls (p < 0.05). Additionally, NCAM1 levels were negatively correlated with social motivation, social communication and the total scores assessed by Social Responsiveness Scale (SRS). NCAM1 levels positively correlated with gross motor ability and developmental quotient in the ASD group. The area under the ROC curve of NCAM1 was 0.647. These results indicated that NCAM1 levels are associated with behavioral problems in children with ASD. These include phenotypes relating to social motivation, social communication, gross motor ability and developmental quotient. These results suggest that future studies exploring the function of NCAM1 in the context of etiology of ASD may be needed. Lien vers le texte intégral (Open Access ou abonnement)
