1. Abelenda AJ, Rodriguez Armendariz E. {{[Scientific evidence of sensory integration as an approach to occupational therapy in autism]}}. {Medicina (B Aires)};2020;80 Suppl 2:41-46.
This article briefly presents the theoretical and practical background of Ayres Sensory Integration (ASI) and its application in autism spectrum disorder (ASD). Historical criticisms on the evidence of ASI as a therapeutic intervention are reviewed and contemporary evidence is presented. According to standards established by the Council for Exceptional Children (CEC), an international organization that develops criteria for categorizing evidence-based practices, ASI is an evidence-based practice.
2. Alcaniz M, Chicchi Giglioli IA, Sirera M, Minissi E, Abad L. {{[Autism spectrum disorder biomarkers based on biosignals, virtual reality and artificial intelligence]}}. {Medicina (B Aires)};2020;80 Suppl 2:31-36.
It has been observed that the stratification of Autism Spectrum Disorders (ASD) generated by the current scales is not effective for the personalization of early treatments. The clinical evaluation of ASD requires its consideration as a continuum of deficits, and there is a need to identify biologically significant parameters (biomarkers) that have the power to automatically characterize each individual at different stages of neurological development. The emerging field of computational psychiatry (CP) attempts to meet the needs of precision diagnosis by developing powerful computational and mathematical techniques. A growing scientific activity proposes the use of implicit measures based on biosignals for the classification of ASD. Virtual reality (VR) technologies have demonstrated potential for ASD interventions, but most of the work has used virtual reality for the learning / objective of interventions. Very few studies have used biological signals for recording and detailed analysis of behavioral responses that can be used to monitor or produce changes over time. In this paper the concept of behavioral biomarkers based on VR or VRBB is introduced. VRBB will allow the classification of ASD using a paradigm of computational psychiatry based on implicit brain processes measured through psychophysiological signals and the behavior of subjects exposed to complex replicas of social conditions using virtual reality interfaces.
3. Artigas-Pallares J, Paula I. {{[From autism spectrum to autism constellation]}}. {Medicina (B Aires)};2020;80 Suppl 2:21-25.
Research on autism and mental disorders has been unsuccessful over the past few decades, as can be inferred from the poor results related to advances in other diseases. It is concerning that, after more than a half century of research based on the Diagnostic and Statistical Manual of Mental Disorders (DSM), no biological markers have been found to prove the validity of the DSM mental disorders. Criticisms to DSM have been focused mainly on the categorical conceptualization, false comorbidity and the polythetic nature of diagnostic criteria. The lack of validity of the DSM model requests for a change in research designs, in order to overcome the problems derived from a paradigm that has stopped to be productive. In the field of clinical practice, it is even more pressing a change of mindset in order to incorporate the heterogeneity of endophenotypes that overflows the classification of the DSM, to adopt a dimensional perspective of mental problems and to develop an alternative interpretation for comorbidity. Related to research are suggested designs based on Domain Research Criteria and a multifactorial analysis with very large samples (big data). For clinical practice it is suggested a dimensional approach based on the specificities of each person with autism.
4. Baixauli I, Rosello B, Berenguer C, Miranda A. {{[Profiles of reading comprehension and written composition of children with high functioning autism]}}. {Medicina (B Aires)};2020;80 Suppl 2:37-40.
Research about the academic profile of students with Autism Spectrum Disorder (ASD) reports a variable performance, although it tends to be lower than what it is expected according to the cognitive level. In the school context, reading and writing are crucial abilities for learning in different curricular areas and they have important implications for academic, social and occupational success. A brief review is carried out about the main reading and writing disabilities that students with ASD show. Studies about reading coincide to point out an adequate knowledge of the decodification processes. However, a lower performance in reading comprehension and, particularly, inferential comprehension has been frequently described. In addition, deficits in the different components of writing have been reported, especially, handwriting and text coherence. Different factors may explain this profile of difficulties, like linguistic factors or aspects related to the psychological theories of autism, which may contribute to possible interventions.
5. Bhat AN. {{Is Motor Impairment in Autism Spectrum Disorder (ASD) Distinct From Developmental Coordination Disorder (DCD)? A Report From the SPARK Study}}. {Phys Ther};2020 (Mar 10)
BACKGROUND: Motor impairments are pervasive in Autism Spectrum Disorder (ASD) however, children with ASD rarely receive a dual diagnosis of Developmental Coordination Disorder (DCD). The Simons Foundation SPARK study engaged families affected by ASD through an online study. OBJECTIVES: The DCD parent questionnaire (DCDQ) was used to assess the prevalence of a risk for motor impairment or DCD in children with ASD between 5 and 15 years of age. DESIGN: This paper utilizes parent reports from a large database of children with ASD. METHODS: A total of 16,705 parents of children with ASD completed the DCDQ. We obtained our final SPARK dataset (n = 11,814) after filtering the invalid data, using stronger cut-offs to confirm ASD traits, and excluding children with general neuromotor impairments/intellectual delays. We compared DCDQ total and subscale scores from the SPARK dataset to published norms for each age between 5 and 15 years. RESULTS: Proportion of children with ASD at-risk for a motor impairment was very high at 86.9%. Children with ASD did not outgrow their motor impairments and continued to present with a risk for DCD even into adolescence. Yet, only 31.6% of children were receiving physical therapy services. LIMITATIONS: Our analysis of a large database of parent-reported outcomes using the DCDQ did not involve follow-up clinical assessments. CONCLUSIONS: Using a large sample of children with ASD, we show that a risk for motor impairment or DCD was present in the majority of children with ASD and persists into adolescence; yet, only a small proportion of children with ASD were receiving physical therapy interventions. A diagnosis of ASD must trigger motor screening and evaluations and appropriate interventions by physical and occupational therapists to address the functional impairments of children with ASD while also positively impacting their social communication, cognition, and behavior. Using valid motor measures, future research must determine if motor impairment is a fundamental feature of ASD.
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6. Borch LA, Parboosingh J, Thomas MA, Veale P. {{Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders}}. {Genet Med};2020 (Mar 10)
PURPOSE: Evaluate whether fragile X syndrome (FXS) testing should be transitioned to a second-tier test in global developmental delay, intellectual disability, and autism spectrum disorder in the absence of family history and suggestive clinical features. METHODS: Determine the diagnostic yield of FXS testing performed by the Alberta Children’s Hospital (ACH) Molecular Diagnostic Laboratory between 2012 and 2017. Retrospective chart review of FXS-positive patients to determine presence or absence of suggestive clinical features and family history. RESULTS: Of the 2486 pediatric patients with neurodevelopmental disorders tested for FXS, 25 males and 5 females were positive. This corresponds to a 1.2% diagnostic yield of FXS testing at our center. Retrospective chart review of the FXS-positive cases revealed that 96% of FXS patients had either, if not both, clinical features or family history suggestive of FXS present at the time of testing. Only one patient had neither family history nor clinical features suggestive of FXS. CONCLUSION: In 96% of FXS-positive cases, there was sufficient clinical suspicion raised on the basis of clinical features and/or family history to perform targeted FXS testing. We thus propose that in the absence of suggestive clinical features or family history, FXS testing should be transitioned to a second-tier test in neurodevelopmental disorders.
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7. Byrge L, Kennedy DP. {{Accurate prediction of individual subject identity and task, but not autism diagnosis, from functional connectomes}}. {Hum Brain Mapp};2020 (Mar 9)
Despite enthusiasm about the potential for using fMRI-based functional connectomes in the development of biomarkers for autism spectrum disorder (ASD), the literature is full of negative findings-failures to distinguish ASD functional connectomes from those of typically developing controls (TD)-and positive findings that are inconsistent across studies. Here, we report on a new study designed to either better differentiate ASD from TD functional connectomes-or, alternatively, to refine our understanding of the factors underlying the current state of affairs. We scanned individuals with ASD and controls both at rest and while watching videos with social content. Using multiband fMRI across repeat sessions, we improved both data quantity and scanning duration by collecting up to 2 hr of data per individual. This is about 50 times the typical number of temporal samples per individual in ASD fcMRI studies. We obtained functional connectomes that were discriminable, allowing for near-perfect individual identification regardless of diagnosis, and equally reliable in both groups. However, contrary to what one might expect, we did not consistently or robustly observe in the ASD group either reductions in similarity to TD functional connectivity (FC) patterns or shared atypical FC patterns. Accordingly, FC-based predictions of diagnosis group achieved accuracy levels around chance. However, using the same approaches to predict scan type (rest vs. video) achieved near-perfect accuracy. Our findings suggest that neither the limitations of resting state as a « task, » data resolution, data quantity, or scan duration can be considered solely responsible for failures to differentiate ASD from TD functional connectomes.
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8. Cioana M, Michalski B, Fahnestock M. {{Insulin-Like Growth Factor and Insulin-Like Growth Factor Receptor Expression in Human Idiopathic Autism Fusiform Gyrus Tissue}}. {Autism Res};2020 (Mar 10)
Autism spectrum disorder (ASD) is believed to stem from defects in the establishment and maintenance of functional neuronal networks due to synaptic/spine dysfunction. The potent effects of IGF-1 on synaptic function, maintenance, and plasticity make it a potential target for treating ASD. This polypeptide hormone has proven to have beneficial effects in treating related developmental disorders like Rett syndrome, and its efficacy in ASD is currently being investigated in a pilot study. IGF-1 binds to its receptor (IGF-1R) in neurons and activates mitogen-activated protein kinase and PI3K/Akt signaling to produce biological effects on spine function. The PI3K/Akt pathway is dysregulated in ASD, including idiopathic autism, and is thus believed to play a role in the disorder. Despite this, no study has explored the levels of IGF-1 in the fusiform gyrus of idiopathic autism patients, an area known to be hypoactivated in ASD, and no study has examined IGF-1R in any part of the brain. The present study explored whether IGF-1 or IGF-1R levels are altered in human idiopathic autism. RNA and protein were extracted from post-mortem human fusiform gyrus tissue of normal controls (n = 20) and subjects with idiopathic autism (n = 15). qRT-PCR for IGF-1 and IGF-1R were performed, along with total IGF-1 ELISA and IGF-1Rbeta Western blots. The levels of both IGF-1 and IGF-1R mRNA and protein were equivalent between the two groups, suggesting that although IGF-1 may be useful for ASD treatment, IGF-1 and IGF-1R are not implicated in the pathogenesis of idiopathic autism. LAY SUMMARY: IGF-1 is being tested for the treatment of autism and related disorders. Despite promising results, it is unknown if IGF-1 or its receptor are present in abnormal levels in patients with autism. This study showed that patients with autism have normal levels of IGF-1 and its receptor in the brain, suggesting that although IGF-1 is a promising treatment, disruption of IGF-1 levels or signaling through its receptor does not seem to be a cause of autism. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Crompton CJ, Hallett S, Ropar D, Flynn E, Fletcher-Watson S. {{‘I never realised everybody felt as happy as I do when I am around autistic people’: A thematic analysis of autistic adults’ relationships with autistic and neurotypical friends and family}}. {Autism};2020 (Mar 7):1362361320908976.
LAY ABSTRACT: Although autistic people may struggle to interact with others, many autistic people have said they find interacting with other autistic people more comfortable. To find out whether this was a common experience, we did hour-long interviews with 12 autistic adults. We asked them questions about how it feels when spending time with their friends and family, and whether it felt different depending on whether the friends and family were autistic or neurotypical. We analysed the interviews and found three common themes in what our participants said. First, they found spending with other autistic people easier and more comfortable than spending time with neurotypical people, and felt they were better understood by other autistic people. Second, autistic people often felt they were in a social minority, and in order to spend time with neurotypical friends and family, they had to conform with what the neurotypical people wanted and were used to. Third, autistic people felt like they belonged with other autistic people and that they could be themselves around them. These findings show that having time with autistic friends and family can be very beneficial for autistic people and played an important role in a happy social life.
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10. Dallos R, McKenzie R, Bond N. {{Doing things differently: Exploring attachment patterns and parental intentions in families where a child has a diagnosis of autism}}. {Clin Child Psychol Psychiatry};2020 (Mar 7):1359104520907141.
The article examines the experience of parenting a child with a diagnosis of autism with a focus on scripts and intentions in relation to the parents’ own childhood experiences of being parented. Five parents participated in a multiple case study design involving in-depth interviews, Adult Attachment Interviews and a parenting intentions scaling task. The findings revealed that all of the parents had experienced significant adverse events in their own childhoods, including trauma and losses. They also expressed intentions to offer parenting that was ‘corrective’ in terms of providing a better emotional environment for their children. Their corrective attempts and also intentions to repeat positive aspects of being parented were moderated by unconscious aspects of their early childhood experiences and also by the autistic features of their children. The interplay between early embodied experiences, theories of autism, parenting experiences and intentions is discussed along with clinical implications.
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11. DeJesus BM, Oliveira RC, de Carvalho FO, de Jesus Mari J, Arida RM, Teixeira-Machado L. {{Dance promotes positive benefits for negative symptoms in autism spectrum disorder (ASD): A systematic review}}. {Complement Ther Med};2020 (Mar);49:102299.
BACKGROUND: Autism spectrum disorder (ASD) is characterized as a neurodevelopmental disorder with stereotyped and repetitive behaviors. Dance practice can elicit esthesia to stimulate the communication process through the notion of the phenomenal body that is recognized in an expressive and symbolic space. OBJECTIVE: To conduct a systematic review to identify how dance promotes positive benefits for the negative symptoms in ASD. METHOD: We formulated the research question based on PICO: « What is the influence of dance on negative symptoms in individuals with autism spectrum disorder? ». Databases were searched in March 2019 and included PubMed, Science Direct, Scopus, PsycInfo and Web of Science. RESULTS: We identified 9,350 studies of which five were selected for our review (a total of 266 individuals). All included studies showed an influence of dance on negative symptoms, including empathy, emotional expression, body awareness, behavior, and psychological wellbeing that impact on social reciprocity, and consequently the communication process, in ASD. CONCLUSIONS: Dance practice may contribute to body awareness and social involvement using techniques that provide mirroring, synchronization, rhythm, and reciprocity in adults with normal to high-functioning ASD.
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12. Graham Holmes L, Zampella CJ, Clements C, McCleery JP, Maddox BB, Parish-Morris J, Udhnani MD, Schultz RT, Miller JS. {{A Lifespan Approach to Patient-Reported Outcomes and Quality of Life for People on the Autism Spectrum}}. {Autism Res};2020 (Mar 10)
Autistic self-advocates, family members, and community organizations have called for greater emphasis on enhancing quality of life (QoL) for people with autism. To do this, it is critical to understand how QoL unfolds across the life course and to clarify whether gender affects QoL, health, and functioning for people with autism. The purpose of this study was to curate and test a lifespan QoL measurement tool using freely available and well-constructed National Institutes of Health Parent-Reported Outcomes Measurement Information System (PROMIS). To develop the PROMIS Autism Battery-Lifespan (PAB-L), we identified PROMIS scales relevant for autism, reviewed each item, consulted with a panel of autism experts, and elicited feedback from autistic people and family members. This battery provides a comprehensive portrait of QoL for children ages 5-13 (through parent proxy), teens 14-17 (parent proxy and self-report), and adults 18-65 (self-report) with autism compared to the general population. Participants and parent informants (N = 912) recruited through a children’s hospital and nationwide U.S. autism research registry completed the PAB-L online. Results indicate that compared to general population norms, people with autism of all ages (or their proxies) reported less desirable outcomes and lower QoL across all domains. Women and girls experienced greater challenges in some areas compared to men and boys with autism. The PAB-L appears to be a feasible and acceptable method for assessing patient-reported outcomes and QoL for autistic people across the life course. LAY SUMMARY: We developed a survey to measure the quality of life of children, teens, and adults with autism using free National Institutes of Health PROMIS questionnaires. People with autism and family members rated the PROMIS Autism Battery-Lifespan as useful and important. Some reported a good quality of life, while many reported that their lives were not going as well as they wanted. Women and girls reported more challenges in some areas of life than men and boys. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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13. Hadoush H, Nazzal M, Almasri NA, Khalil H, Alafeef M. {{Therapeutic Effects of Bilateral Anodal Transcranial Direct Current Stimulation on Prefrontal and Motor Cortical Areas in Children with Autism Spectrum Disorders: A Pilot Study}}. {Autism Res};2020 (Mar 9)
Dysfunctional frontal cortical areas associated with clinical features are observed in children with autism spectrum disorder (ASD). This study attempted to identify any potential therapeutic effects of bilateral anodal transcranial direct current stimulation (tDCS) applied over the left and right prefrontal and motor areas on the clinical characteristics of children with ASD. Fifty children with confirmed ASD medical diagnoses were divided equally and randomly into a tDCS treatment group and a control group. The tDCS treatment group underwent 10 sessions (20-min durations, five per week) of bilateral anodal tDCS stimulation applied simultaneously over the left and right prefrontal and motor areas, whereas the control group underwent the same procedures but with the use of sham tDCS stimulation. Total scores and sub-scores of autism treatment evaluation checklist (ATEC) (language and communication; sociability; sensory awareness; and behavioral, health, and physical conditions) were measured before and after the tDCS treatment sessions of both groups. There were significant decreases in total ATEC scores (P = 0.014), sociability sub-scores (P = 0.021), and behavioral, health, and physical condition sub-scores (P = 0.011) in the tDCS treatment group. No significant changes were observed in total ATEC scores and sub-scores in the control group. In conclusion, compared to the control group, bilateral anodal tDCS showed potential therapeutic effects on children with ASD in terms of improvements in sociability, behavior, health, and physical conditions with no reported side effects. LAY SUMMARY: Dysfunctional frontal cortical areas are associated with clinical features in children with autism spectrum disorder (ASD). Transcranial direct current stimulation (tDCS) is found to be a safe, noninvasive method to stimulate cortical regions and thus have therapeutic effects on children with ASD. (c) 2020 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Hervas A, Pont C. {{[Affective-sexual development in people with autistic spectrum disorders]}}. {Medicina (B Aires)};2020;80 Suppl 2:7-11.
Autistic spectrum disorders (ASD) are neurodevelopmental disorders that affect social communication and present repetitive, stereotyped and inflexible behaviour. A third of the people with a diagnosis of ASD also have intellectual disability associated and two thirds present an intellectual capacity within the average range. The nuclear autistic and others associated symptoms can affect the affective and sexual development. This article exposes which are the problems people with ASD present in the affective and sexual development, the most frequently described and brief guides for evaluation and support for an adequate affective-sexual development in people with ASD.
15. Mazurek MO, Parker RA, Chan J, Kuhlthau K, Sohl K. {{Effectiveness of the Extension for Community Health Outcomes Model as Applied to Primary Care for Autism: A Partial Stepped-Wedge Randomized Clinical Trial}}. {JAMA Pediatr};2020 (Mar 9):e196306.
Importance: The Extension for Community Health Outcomes (ECHO) model is a widely adopted technology-based model for training primary care physicians and practitioners (PCPs) to care for patients with complex conditions. Despite its popularity, to our knowledge, direct effects of ECHO on clinical practice have not been tested in a large-scale study. Objective: To test the effectiveness of the ECHO model as applied to primary care for autism and whether it resulted in improved clinical practice, knowledge, and self-efficacy regarding autism screening and comorbidity management. Design, Setting, and Participants: Primary care physicians and practitioners were recruited to participate in a 6-month ECHO Autism program delivered by 1 of 10 academic medical center sites. A sequential, staggered rollout of ECHO Autism was delivered to 5 cohorts of participants (15 per site; 2 sites per cohort). Sites were randomized after recruitment to cohort/start time. Cohorts launched every 3 months. The ECHO Autism program used videoconferencing technology to connect community-based PCPs with interdisciplinary expert teams at academic medical centers. There were 148 participants (PCPs [family practice physicians, pediatricians, nurse practitioners, and physician assistants] providing outpatient services to underserved children) studied between December 2016 and November 2018. Interventions: The 6-month ECHO Autism program included twelve 2-hour sessions connecting PCP participants with an interdisciplinary expert team. Sessions included didactics, case-based learning, guided practice, and discussion. Main Outcomes and Measures: Coprimary outcomes were autism screening practices and comorbidity management (assessed by medical record review). Secondary outcomes were knowledge (assessed by direct testing) and self-efficacy (assessed by self-report survey). Assessments were conducted at baseline, mid-ECHO, post-ECHO, and follow-up (3 months after ECHO). Results: Ten sites were randomized to 1 of 5 cohorts. Participants were 82% female (n = 108), 76% white (n = 100), and 6% Hispanic or Latino (n = 8); the median age was 46 years (interquartile range, 37-55 years). Significant changes in autism screening and treatment of comorbidities in children with autism were not observed. Participants demonstrated significant improvements in knowledge (9%; 95% CI, 4-13; P < .001) and self-efficacy (29%; 95% CI, 25-32; P < .001). Conclusions and Relevance: The ECHO model was developed to increase access to high-quality health care for underserved patients with complex conditions. Study results provide support for the model in improving clinician knowledge and confidence but little support for achieving practice change. Trial Registration: ClinicalTrials.gov Identifier: NCT03677089. Lien vers le texte intégral (Open Access ou abonnement)
16. Ono Y, Kudoh K, Ikeda T, Takahashi T, Yoshimura Y, Minabe Y, Kikuchi M. {{Auditory steady-state response at 20Hz and 40Hz in young typically developing children and children with autism spectrum disorder}}. {Psychiatry Clin Neurosci};2020 (Mar 10)
AIM: The early detection of autistic tendencies in children is essential for providing proper care and education. The auditory steady- state response (ASSR) provides a passive, non-invasive technique for assessing neural synchrony at specific response frequencies in many mental disorders, including autism spectrum disorder (ASD), but few studies have investigated its use in young children. This study investigated the ASSR to 20 and 40 Hz in typically developing (TD) children and children with ASD aged 5-7 years. METHODS: The participants were 23 children with ASD and 32 TD children aged 5-7 years. Using a custom-made magnetoencephalography, we measured ASSR at 20 and 40 Hz, compared the results between the groups, and evaluated the association with intellectual function as measured by Kaufmann Assessment Battery for Children (K-ABC). RESULTS: Responses to 20 and 40 Hz were clearly detected in both groups with no significant difference identified. Consistent with previous findings, right dominance of the 40 Hz ASSR was observed in both groups. In the TD children, the right- side 40 -Hz ASSR was correlated with age. K-ABC score was correlated with the left-side 40-Hz ASSR in both groups. CONCLUSIONS: Right-dominant ASSR was successfully detected in young children in young TD children and children with ASD. No difference in ASSR was observed between the children with ASD and the TD children, although the right-side 40-Hz ASSR increased with age only in the TD children. Left-side 40-Hz ASSR was associated with intelligence score in both groups. This article is protected by copyright. All rights reserved.
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17. Paula-Perez I, Artigas-Pallares J. {{[Intolerance to uncertainty in autism]}}. {Medicina (B Aires)};2020;80 Suppl 2:17-20.
We start from the evidence that confirms a greater vulnerability to anxiety in people with autism and to wonder to what extent the intolerance to the uncertainty mediates in that anxiety. In addition, the alterations of the predictive abilities in autism could explain the coherence between greater intolerance to uncertainty and some peculiarities inherent in autism such as patterns of restrictive and stereotyped behaviors, interests and activities, and particularities in the processing of sensory information. This information will allow us to develop interventions specifically focused on this construct for the prevention and improvement of anxiety symptoms in autism in cases that the severity of intolerance to uncertainty constitutes a significant risk factor.
18. Rossion B. {{Biomarkers of Face Perception in Autism Spectrum Disorder: Time to Shift to Fast Periodic Visual Stimulation With Electroencephalography?}}. {Biol Psychiatry Cogn Neurosci Neuroimaging};2020 (Mar);5(3):258-260.
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19. Ruggieri V. {{[Autism, depression and risk of suicide]}}. {Medicina (B Aires)};2020;80 Suppl 2:12-16.
Autism is a neurodevelopmental disorder characterized by a qualitative alteration in social interaction and communication, associated with restricted interests and stereotyped behaviors. People with autism are four times more likely to develop depression, than the general population, it is even considered as the most common mental health condition in people with autism spectrum disorders (ASD). One of the challenges is to recognize the manifestations related to depression in people with ASD, in whom, in general, it is expressed differently in relation to those with typical development. Depression in people with autism can manifest itself with restlessness and insomnia and not with feelings of sadness, so it is essential to be attentive and not justify all behavioral problems to autism. Young adults with ASD have higher baseline levels of almost all the depression characteristics listed in the DSM-5, which can lead to overdiagnosis or underreporting of depression. On the other hand, adults with autism have an increased risk of experiencing suicidal thoughts, planning suicide, carrying it out and even dying from suicide. Many of them have a history of depression, harassment and loneliness. It is essential the early detection of depression, develop appropriate tools for diagnosis in autism as well as generate awareness of the risk of ideation or suicide, a problem that only in recent years has been addressed with greater depth. In this paper I analyze depression in autism, the risk of suicidal ideation and suicide, prioritizing clinical aspects, their evaluation and risk factors.
20. Sierra-Arregui T, Llorente J, Gimenez Minguez P, Tonnesen J, Penagarikano O. {{Neurobiological mechanisms of autism spectrum disorder and epilepsy, insights from animal models}}. {Neuroscience};2020 (Mar 5)
Autism Spectrum Disorder and epilepsy are two neurodevelopmental disorders that have a high comorbidity rate, suggesting that a common neurodevelopmental mechanism exists. However, to date there is no conclusive way to predict whether a child will develop either syndrome or both and to what degree associated phenotypes will be affected. Failure to consistently identify predictive patterns of ASD and/or epilepsy diagnosis stems from the fact that they are etiologically heterogeneous conditions and research into their neuropathological mechanisms becomes challenging. Whole genome/exome sequencing has advanced our understanding of the genetic causes of ASD and epilepsy to an extent that currently about half of all ASD as well as epilepsy cases are known to have a genetic basis. In fact, a picture is emerging of both conditions as a collection of distinct genetically defined disorders, although the role of environmental factors has also been established.A plethora of animal models, most of them based on identified human genetic mutations and a few on known environmental causes, have been developed. Animal models provide a major experimental avenue for studying the underlying cellular and molecular mechanisms of human disorders. They also provide invaluable preclinical tools that can be used to test therapeutic approaches. In this review, we first summarize the methods for validating mouse models of ASD and epilepsy. Second, we present the current models validated for the comorbidity and finally, we recapitulate the common pathomechanisms identified in these models with special emphasis on synaptic plasticity.
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21. Wong CW, Wang Y, Liu T, Li L, Cheung SKK, Or PM, Cheng AS, Choy KW, Burbach JPH, Bo F, Chang RCC, Chan AM. {{Autism-associated PTEN missense mutation leads to enhanced nuclear localization and neurite outgrowth in an induced pluripotent stem cell line}}. {FEBS J};2020 (Mar 9)
Germline mutation in the PTEN gene is the genetic basis of PTEN hamartoma tumor syndrome with the affected individuals harboring features of autism spectrum disorders. Characterizing a panel of 14 autism-associated PTEN missense mutations revealed reduced protein stability, catalytic activity, and subcellular distribution. Nine out of 14 (64%) PTEN missense mutants had reduced protein expression with most mutations confined to the C2 domain. Selected mutants displayed enhanced polyubiquitination and shortened protein half-life, but that did not appear to involve the polyubiquitination sites at lysine residues at codon 13 or 289. Analyzing their intrinsic lipid phosphatase activities revealed that 78% (11 out of 14) of these mutants had 2- to 10-fold reduction in catalytic activity toward phosphatidylinositol phosphate substrates. Analyzing the subcellular localization of the PTEN missense mutants showed that 64% (9 out of 14) had altered nuclear-to-cytosol ratios with four mutants (G44D, H123Q, E157G, and D326N) showing greater nuclear localization. The E157G mutant was knocked-in to an induced pluripotent stem cell line and recapitulated a similar nuclear targeting preference. Furthermore, iPSCs expressing the E157G mutant were more proliferative at the neural progenitor cell stage but exhibited more extensive dendritic outgrowth. In summary, the combination of biological changes in PTEN is expected to contribute to the behavioral and cellular features of this neurodevelopmental disorder.
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22. Writing Group For Practice Guidelines For D, Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical A, Guan R, Li Q, Fu S. {{[Clinical practice guidelines for Rett syndrome]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2020 (Mar 10);37(3):308-312.
Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting the females. It is closely associated with mutations of methylated CpG binding protein 2 ((MeCP2))] gene on the X chromosome. The incidence of RTT in females is 1/15 000 – 1/10 000. Its clinical features include mental retardation, loss of language function, rigid movement of hands, and abnormal gait. Currently there is no cure for the disease but only symptomatic treatment. The compilation of this guideline has referred to the third edition of Diagnostic Standard of RTT as revised in 2010, and integrated the latest findings of clinical research at home and abroad, in addition with conditions and clinical practice in China, with an aim to provide guidance for the clinical diagnosis, treatment and genetic counseling of patients with RTT.
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23. Ziermans TB, Schirmbeck F, Oosterwijk F, Geurts HM, de Haan L. {{Autistic traits in psychotic disorders: prevalence, familial risk, and impact on social functioning}}. {Psychol Med};2020 (Mar 10):1-10.
BACKGROUND: Prevalence estimates of autistic traits in individuals with psychotic disorders (PD) vary greatly and it is unclear whether individuals with a familial risk (FR) for psychosis have an increased propensity to display autistic traits. Furthermore, it is unknown whether the presence of comorbid autism traits disproportionally affects the cognitive and behavioral aspects of social functioning in PD. METHODS: In total, 504 individuals with PD, 587 unaffected siblings with FR, and 337 typical comparison (TC) individuals (16-50 years) were included. Autistic and psychotic traits were measured with the Autism Spectrum Quotient (AQ) and the Community Assessment of Psychic Experiences (CAPE). Social cognition was assessed with the Picture Sequencing Task (PST) and social behavior with the Social Functioning Scale (SFS). RESULTS: For PD 6.5% scored above AQ clinical cut-off (32), 1.0% for FR, and 1.2% for TC. After accounting for age, sex, and IQ, the PD group showed significantly more autistic traits and alterations in social behavior and cognition, while FR and TC only displayed marginal differences. Within the PD group autistic traits were a robust predictor of social behavior and there were no interactions with positive psychotic symptoms. CONCLUSIONS: Levels of autistic traits are substantially elevated in PD and have a profoundly negative association with social functioning. In contrast, autistic traits above the clinical cut-off are not elevated in those with FR, and only marginally on a dimensional level. These findings warrant specific clinical guidelines for psychotic patients who present themselves with autistic comorbidity to help address their social needs.
