Pubmed du 15/06/21
1. Altimiras F, Garcia JA, Palacios-García I, Hurley MJ, Deacon R, González B, Cogram P. Altered Gut Microbiota in a Fragile X Syndrome Mouse Model. Frontiers in neuroscience. 2021; 15: 653120.
The human gut microbiome is the ecosystem of microorganisms that live in the human digestive system. Several studies have related gut microbiome variants to metabolic, immune and nervous system disorders. Fragile X syndrome (FXS) is a neurodevelopmental disorder considered the most common cause of inherited intellectual disability and the leading monogenetic cause of autism. The role of the gut microbiome in FXS remains largely unexplored. Here, we report the results of a gut microbiome analysis using a FXS mouse model and 16S ribosomal RNA gene sequencing. We identified alterations in the fmr1 KO2 gut microbiome associated with different bacterial species, including those in the genera Akkermansia, Sutterella, Allobaculum, Bifidobacterium, Odoribacter, Turicibacter, Flexispira, Bacteroides, and Oscillospira. Several gut bacterial metabolic pathways were significantly altered in fmr1 KO2 mice, including menaquinone degradation, catechol degradation, vitamin B6 biosynthesis, fatty acid biosynthesis, and nucleotide metabolism. Several of these metabolic pathways, including catechol degradation, nucleotide metabolism and fatty acid biosynthesis, were previously reported to be altered in children and adults with autism. The present study reports a potential association of the gut microbiome with FXS, thereby opening new possibilities for exploring reliable treatments and non-invasive biomarkers.
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2. Cantor J, McBain RK, Kofner A, Stein BD, Yu H. Where are US outpatient mental health facilities that serve children with autism spectrum disorder? A national snapshot of geographic disparities. Autism : the international journal of research and practice. 2022; 26(1): 169-77.
There has been a rise in the observed prevalence of autism spectrum disorder among children. Existing studies show the share of counties with a treatment facility that offers care for children with autism spectrum disorder. However, no estimates exist of the share of US outpatient mental health treatment facilities that provide services for children with autism spectrum disorder. We identified key facility-level characteristics in offering mental health care for children with autism spectrum disorder. We used a telephone survey to contact almost all outpatient mental health treatment facilities in the contiguous United States. We asked the facilities if they provided mental health care for children with autism spectrum disorder. We took the results of this survey and estimated multivariable regressions to examine county- and facility-level predictors of offering services. We found that over half (50.3%) of the 6156 outpatient facilities reported offering care for children with autism spectrum disorder. Non-metro counties, counties with a lower percentage of non-White residents, counties with a higher percentage of uninsured residents, and counties with a higher poverty rate had fewer outpatient mental health treatment facilities providing care for children with autism spectrum disorder. Facilities accepting Medicaid as a form of payment, offering telehealth, and private for-profit facilities were more likely to provide services for children with autism spectrum disorder. Because only half of outpatient mental health treatment facilities offer care for children with autism spectrum disorder, public health officials and policymakers should do more to ensure that this vulnerable population has access to mental health services.
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3. Chang JC, Lai MC, Tai YM, Gau SS. Mental health correlates and potential childhood predictors for the wish to be of the opposite sex in young autistic adults. Autism : the international journal of research and practice. 2022; 26(1): 146-59.
Autistic people/people with autism spectrum disorder are more likely to experience gender dysphoria. However, the possible longitudinal predictors and underlying mechanisms of this co-occurrence are unclear. To fill this knowledge gap, we assessed 88 people with autism spectrum disorder and 42 typically developing individuals at their average ages of 13.0 (baseline, childhood/adolescence) and 20.2 years old (follow-up, adulthood). At follow-up, their endorsement on the item « I wish I was the opposite sex » was used to evaluate gender dysphoric symptoms. We compared mental health symptoms between adults with and without this item endorsement at the follow-up assessment. We explored parent-reported family and autism characteristics-related predictors in childhood/adolescence to this item endorsement in adulthood. We found that more autistic adults reported the wish to be of the opposite sex than did typically developing individuals. Autistic adults who endorsed this item experienced more mental health challenges, more school bullying and cyberbullying, more suicidal ideation, and worse quality of life. Moreover, parent-reported lower family support and more stereotyped/repetitive behaviors during childhood/adolescence predicted the self-reported wish to be of the opposite sex in adulthood in autistic individuals. More attention and support should be provided to autistic people regarding gender development and related mental health and quality of life impact, especially during the transition period to young adulthood.
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4. Duvall S, Armstrong K, Shahabuddin A, Grantz C, Fein D, Lord C. A road map for identifying autism spectrum disorder: recognizing and evaluating characteristics that should raise red or « pink » flags to guide accurate differential diagnosis. The Clinical neuropsychologist. 2021: 1-36.
Objective: Given the high population prevalence of Autism Spectrum Disorder (ASD) and overlapping symptoms with medically complex groups, ASD is a common rule out diagnosis for neuropsychologists even when not identified in the referral or initial presenting concerns. This paper presents practical guidance to support neuropsychologists in their ability to accurately assess, diagnose, and/or rule out ASD, especially in patients with more subtle presentations. Method: This paper combines clinical experience and empirical literature to highlight important assessment measures and related considerations, differential diagnostic considerations, common misconceptions about ASD and person/family characteristics, as well as variability in presentation and comorbidities that can obscure the diagnosis. Characteristics that may be considered « red flags » (clearly diagnostic, classic symptoms) and « pink flags » (associated features and symptoms that are suggestive of ASD but not quite definitive and that may overlap with symptoms seen in other neurodevelopmental or psychiatric diagnoses) will be discussed. Conclusions: Neuropsychologists in all clinical settings should be able to effectively screen for and/or diagnose ASD, even when its presentation is more subtle and/or when symptoms are masked by patient strengths in a way that makes their clinical presentation less obvious. Practical strategies for communicating the diagnosis and next steps/recommendations for interventions are reviewed.
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5. Ghafouri-Fard S, Eghtedarian R, Hussen BM, Motevaseli E, Arsang-Jang S, Taheri M. Expression Analysis of VDR-Related LncRNAs in Autism Spectrum Disorder. Journal of molecular neuroscience : MN. 2021; 71(7): 1403-9.
Vitamin D receptor (VDR) signaling has been reported to affect neurodevelopment, thus participating in the risk of autism spectrum disorder (ASD). We have measured expression amounts of VDR, CYP27B1, and two related long non-coding RNAs, namely SNHG6 and LINC00511, in the circulation of ASD patients compared with normal controls. Expression of CYP27B1 was remarkably higher in ASD cases compared with controls (posterior beta = 2.38, SE = 0.46, adjusted P value < 0.0001, 95% credible interval (CrI) for beta = [1.49, 3.27]). Level of SNHG6 was lower in ASD cases compared with controls (posterior beta = - 0.791, SE = 0.24, adjusted P value = 0.029, 95% CrI for beta = [- 1.27, - 0.33]). Expression levels of VDR and LINC00511 were similar between ASD cases and controls (P values = 0.97 and 0.46, respectively). Expressions of VDR, CYP27B1, SNHG6, and LINC00511 were not correlated with age of children. However, significant correlations were perceived between expressions of CYP27B1 and LINC00511 (r = 0.47, P < 0.0001), VDR and CYP27B1 (r = 0.42, P < 0.0001), and VDR and SNHG6 (r = 0.32, P < 0.0001). Therefore, these results imply dysregulation of a number of VDR-related genes in ASD patients.
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6. Gonzalez H, George R, Muzaffar S, Acevedo J, Hoppner S, Mayr C, Yoo J, Fitzek F, Elfadel I. Hardware Acceleration of EEG-Based Emotion Classification Systems: A Comprehensive Survey. IEEE transactions on biomedical circuits and systems. 2021; 15(3): 412-42.
Recent years have witnessed a growing interest in EEG-based wearable classifiers of emotions, which could enable the real-time monitoring of patients suffering from neurological disorders such as Amyotrophic Lateral Sclerosis (ALS), Autism Spectrum Disorder (ASD), or Alzheimer’s. The hope is that such wearable emotion classifiers would facilitate the patients’ social integration and lead to improved healthcare outcomes for them and their loved ones. Yet in spite of their direct relevance to neuro-medicine, the hardware platforms for emotion classification have yet to fill up some important gaps in their various approaches to emotion classification in a healthcare context. In this paper, we present the first hardware-focused critical review of EEG-based wearable classifiers of emotions and survey their implementation perspectives, their algorithmic foundations, and their feature extraction methodologies. We further provide a neuroscience-based analysis of current hardware accelerators of emotion classifiers and use it to map out several research opportunities, including multi-modal hardware platforms, accelerators with tightly-coupled cores operating robustly in the near/supra-threshold region, and pre-processing libraries for universal EEG-based datasets.
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7. Gürkan Tazegül EN, Kutlu Konuk F, Aksu Ş S, Unay Ö S, Yıldız Bıçakçı M, Ekici B, Tatlı B. Play interactions of parents toward children with autism spectrum disorder: NeuroPLAY parent play behavior assessment scale. Journal of child and adolescent psychiatric nursing : official publication of the Association of Child and Adolescent Psychiatric Nurses, Inc. 2021; 34(4): 320-8.
PROBLEM: The aim of this study is to analyze the changes that NeuroPLAY, which is an intensive early intervention method for children with autism spectrum disorder (ASD) and ages of 12-42 months, has created in the play skills of the parents of children with ASD by using method strategies. METHODS: The study cohort includes 91 children ages ranging from 18 to 42 months old. The study is designed for repetitive measurements performed pre- and post-intervention. Within the scope of the study, children’s ASD symptoms were evaluated with the Childhood Autism Rating Scale (CARS) and changes in the play skills of parents were evaluated using NeuroPLAY Parental Play Behavior Assessment Scale (NPPBAS). RESULTS: The NPPBAS score at the beginning of the intervention was 12.55; repeated measurements (46.22 after 3 months, 45.95 after 6 months, and 48.53 after 12 months) were observed to increase core. The older age of the parents in the intervention program is associated with lower final NPPBAS scores. However, it was determined that the CARS score, which is an indicator of the autism spectrum, will decrease after intervention regardless of the parents’ age. CONCLUSION: The results showed that NeuroPLAY led to significant improvement in play behaviors of the parents.
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8. Kim S, Hirokawa M, Matsuda S, Funahashi A, Suzuki K. Smiles as a Signal of Prosocial Behaviors Toward the Robot in the Therapeutic Setting for Children With Autism Spectrum Disorder. Frontiers in robotics and AI. 2021; 8: 599755.
We explored how robot-assisted therapy based on smile analysis may facilitate the prosocial behaviors of children with autism spectrum disorder. Prosocial behaviors, which are actions for the benefit of others, are required to belong to society and increase the quality of life. As smiling is a candidate for predicting prosocial behaviors in robot-assisted therapy, we measured smiles by annotating behaviors that were recorded with video cameras and by classifying facial muscle activities recorded with a wearable device. While interacting with a robot, the participants experienced two situations where participants’ prosocial behaviors are expected, which were supporting the robot to walk and helping the robot from falling. We first explored the overall smiles at specific timings and prosocial behaviors. Then, we explored the smiles triggered by a robot and behavior changes before engaging in prosocial behaviors. The results show that the specific timing of smiles and prosocial behaviors increased in the second session of children with autism spectrum disorder. Additionally, a smile was followed by a series of behaviors before prosocial behavior. With a proposed Bayesian model, smiling, or heading predicted prosocial behaviors with higher accuracy compared to other variables. Particularly, voluntary prosocial behaviors were observed after smiling. The findings of this exploratory study imply that smiles might be a signal of prosocial behaviors. We also suggest a probabilistic model for predicting prosocial behaviors based on smile analysis, which could be applied to personalized robot-assisted therapy by controlling a robot’s movements to arouse smiles and increase the probability that a child with autism spectrum disorder will engage in prosocial behaviors.
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9. Kumm AJ, Viljoen M, de Vries PJ. The Digital Divide in Technologies for Autism: Feasibility Considerations for Low- and Middle-Income Countries. Journal of autism and developmental disorders. 2022; 52(5): 2300-13.
Digital technologies have the potential to empower individuals with autism and their families. The COVID-19 pandemic emphasized and accelerated the drive towards technology for information, communication, training, clinical care and research, also in the autism community. However, 95% of individuals with autism live in low- and middle-income countries (LMIC) where access to electricity, internet and the ever-increasing range of digital devices may be highly limited. The World Bank coined the term ‘the digital divide’ to describe the disparities in access to digital technologies between high-income and LMIC contexts. Here we evaluated the feasibility of six emerging technologies for autism spectrum disorders, and reflected on key considerations for implementation in LMIC contexts to ensure that we do not inadvertently widen the pre-existing digital divide.
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10. Mendes SL, Pinaya WHL, Pan P, Sato JR. Estimating Gender and Age from Brain Structural MRI of Children and Adolescents: A 3D Convolutional Neural Network Multitask Learning Model. Computational intelligence and neuroscience. 2021; 2021: 5550914.
Despite recent advances, assessing biological measurements for neuropsychiatric disorders is still a challenge, where confounding variables such as gender and age (as a proxy for neurodevelopment) play an important role. This study explores brain structural magnetic resonance imaging (sMRI) from two public data sets (ABIDE-II and ADHD-200) with healthy control (HC, N = 894), autism spectrum disorder (ASD, N = 251), and attention deficit hyperactivity disorder (ADHD, N = 357) individuals. We used gray and white matter preprocessed via voxel-based morphometry (VBM) to train a 3D convolutional neural network with a multitask learning strategy to estimate gender, age, and mental health status from structural brain differences. Gradient-based methods were employed to generate attention maps, providing clinically relevant identification of most representative brain regions for models’ decision-making. This approach resulted in satisfactory predictions for gender and age. ADHD-200-trained models, evaluated in 10-fold cross-validation procedures on test set, obtained a mean absolute error (MAE) of 1.43 years (±0.22 SD) for age prediction and an area under the curve (AUC) of 0.85 (±0.04 SD) for gender classification. In out-of-sample validation, the best-performing ADHD-200 models satisfactorily predicted age (MAE = 1.57 years) and gender (AUC = 0.89) in the ABIDE-II data set. The models’ accuracy was in line with the current state-of-the-art machine learning applications in neuroimaging. Key regions for models’ accuracy were presented as a meaningful graphical output. New implementations, such as the use of VBM along with a 3D convolutional neural network multitask learning model and a brain imaging graphical output, reinforce the relevance of the proposed workflow.
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11. Micai M, Ciaramella A, Salvitti T, Fulceri F, Fatta LM, Poustka L, Diehm R, Iskrov G, Stefanov R, Guillon Q, Rogé B, Staines A, Sweeney MR, Boilson AM, Leósdóttir T, Saemundsen E, Moilanen I, Ebeling H, Yliherva A, Gissler M, Parviainen T, Tani P, Kawa R, Vicente A, Rasga C, Budişteanu M, Dale I, Povey C, Flores N, Jenaro C, Monroy ML, Primo PG, Charman T, Cramer S, Warberg CK, Canal-Bedia R, Posada M, Scattoni ML, Schendel D. Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project. Frontiers in psychiatry. 2021; 12: 614102.
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults-especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, <20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals' education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services.
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12. Rosen NE, McCauley JB, Lord C. Influence of siblings on adaptive behavior trajectories in autism spectrum disorder. Autism : the international journal of research and practice. 2022; 26(1): 135-45.
Siblings have the potential to shape the developmental trajectories of individuals with autism spectrum disorder. Having siblings has been associated with better social communication skills, less severe non-verbal communication deficits, and improved theory of mind abilities in autism spectrum disorder. This study examined the influence of the presence of a sibling, participant’s position in the birth order, gender of the closest-age sibling, and gender match of the sibling dyad on the rate of growth in adaptive skills from ages 9 to 26 years among individuals with autism spectrum disorder and individuals with a history of non-spectrum developmental disorders. While all participants showed consistent gains in adaptive skill development as a function of age, there was variability in rates of growth based on sibling constellation group membership. Participants with at least one sibling, regardless of other sibling constellation factors, experienced greater rates of growth in adaptive behavior trajectories from childhood to adulthood than participants with no siblings across both Black and White participants, although differences were magnified in Black participants. Furthermore, among participants with siblings, those with male closest-age siblings and those with gender-matched siblings, irrespective of birth order position, demonstrated the steepest growth patterns in adaptive functioning within their respective groups over the 17-year period. Results suggest that siblings may serve an important role in improving the adaptive functioning trajectories and overall outcomes of individuals with autism spectrum disorder.
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13. Rothman EF, Graham Holmes L. Using formative research to develop HEARTS: A curriculum-based healthy relationships promoting intervention for individuals on the autism spectrum. Autism : the international journal of research and practice. 2022; 26(1): 160-8.
What is already known about the topic? All people can benefit from education about how to have healthy friendships and dating relationships. But specific interventions on relationship skills-like respecting boundaries, identifying warning signs of abuse, or talking about sexual preferences-are too rare, particularly for autistic individuals. The goal of this study was to collect formative data from autistic emerging adults to help create a new, six-session workshop for autistic young adults to support healthy peer relationships. Twenty-five autistic youth aged 16-22 years old were interviewed.What this paper adds? The participants described a need for more and better information about how to support lasting friendships, deal with their anxiety about relationships, and know when friendships or dating relationships were reciprocal and rewarding versus unhealthy.Implications for practice, research, or policy. The results reveal a need for a new and effective intervention that supports healthy relationship skills for autistic people.
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14. Strang JF, Anthony LG, Song A, Lai MC, Knauss M, Sadikova E, Graham E, Zaks Z, Wimms H, Willing L, Call D, Mancilla M, Shakin S, Vilain E, Kim DY, Maisashvili T, Khawaja A, Kenworthy L. In Addition to Stigma: Cognitive and Autism-Related Predictors of Mental Health in Transgender Adolescents. Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53. 2021: 1-18.
Objective: Autism spectrum disorder (ASD) is significantly over-represented among transgender adolescents. Independently, ASD and gender diversity are associated with increased mental health risks. Yet, mental health in autistic-transgender adolescents is poorly understood. This study investigates mental health in the largest matched sample to date of autistic-transgender, non-autistic (allistic) transgender, and autistic-cisgender adolescents diagnosed using gold-standard ASD diagnostic procedures. In accordance with advancing understanding of sex/gender-related autism phenotypes, slightly subthreshold autistic diagnostic presentations (common in autistic girls/women) are modeled.Method: This study includes 93 adolescents aged 13-21, evenly divided between autistic-transgender, autistic-cisgender, and allistic-transgender groups; 13 transgender adolescents were at the margin of ASD diagnosis and included within a larger « broad-ASD » grouping. Psychological and neuropsychological evaluation included assessment of mental health, IQ, LGBT stigma, ASD-related social symptoms, executive functioning (EF), and EF-related barriers to achieving gender-related needs.Results: Autistic-transgender adolescents experienced significantly greater internalizing symptoms compared to allistic-transgender and autistic-cisgender groups. In addition to stigma-related associations with mental health, ASD-related cognitive/neurodevelopmental factors (i.e., poorer EF and greater social symptoms) were associated with worse mental health: specifically, social symptoms and EF gender barriers with greater internalizing and EF problems and EF gender barriers with greater suicidality. Comparing across all ASD and gender-related groups, female gender identity was associated with greater suicidality.Conclusions: Parsing the heterogeneity of mental health risks among transgender youth is critical for developing targeted assessments and interventions. This study identifies ASD diagnosis, ASD phenotypic characteristics, and EF-related gender barriers as potential risks for poorer mental health in transgender adolescents.
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15. Tariq HS, Hafiz MY. Autism: A deep insight. JPMA The Journal of the Pakistan Medical Association. 2021; 71(4): 1314-5.
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16. Tedla JS, Asiri F, Alshahrani MS, Gular K. Hypermobility among children with autism spectrum disorders and its correlation with anthropometric characteristics. JPMA The Journal of the Pakistan Medical Association. 2021; 71(4): 1076-80.
OBJECTIVE: To determine the extent of hypermobility in children with Autism Spectrum Disorder and to determine the correlation between age, gender, height, weight, BMI and hypermobility. METHODS: This cross-sectional study included 117 children with Autism Spectrum Disorder aged 2 to 17 years, of whom 91 were boys and 26 were girls. After obtaining the written informed consent from the parents of these children with Autism Spectrum Disorder, we assessed their level of hypermobility using the Beighton score. RESULTS: Out of 117 children, 47 (40.17%) were normal and 70 (59.83%) showed an abnormal increase in mobility. The average Beighton score was 5.33 ± 2.42. There is a moderate negative correlation between height, weight, and age with hypermobility. CONCLUSIONS: The extent of hypermobility among children with Autism Spectrum Disorder was 60%, that is, 70 out of 117 children had hypermobility. Our results also suggested that the age, height, weight, and BMI of the child had a moderate negative correlation with hypermobility.
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17. Uljarević M, Frazier TW, Jo B, Phillips JM, Billingham W, Cooper MN, Hardan AY. Relationship Between Social Motivation in Children With Autism Spectrum Disorder and Their Parents. Frontiers in neuroscience. 2021; 15: 660330.
Impairment in social motivation (SM) has been suggested as a key mechanism underlying social communication deficits observed in autism spectrum disorder (ASD). However, the factors accounting for variability in SM remain poorly described and understood. The current study aimed to characterize the relationship between parental and proband SM. Data from 2,759 children with ASD (M (age) = 9.03 years, SD (age) = 3.57, 375 females) and their parents from the Simons Simplex Collection (SSC) project was included in this study. Parental and proband SM was assessed using previously identified item sets from the Social Responsiveness Scale (SRS). Children who had parents with low SM scores (less impairments) showed significantly lower impairments in SM compared to children who had either one or both parents with elevated SM scores. No parent-of-origin effect was identified. No significant interactions were found involving proband sex or intellectual disability (ID) status (presence/absence of ID) with paternal or maternal SM. This study establishes that low SM in children with ASD may be driven, in part, by lower SM in one or both parents. Future investigations should utilize larger family pedigrees, including simplex and multiplex families, evaluate other measures of SM, and include other related, yet distinct constructs, such as social inhibition and anhedonia. This will help to gain finer-grained insights into the factors and mechanisms accounting for individual differences in sociability among typically developing children as well as those with, or at risk, for developing ASD.
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18. Vuattoux D, Castiglia D, Chabane N. Considerations and Perspectives on Interventions to Improve Social Cognition in Adolescents With ASD Without ID: Involving Parents in Social Skills Groups. Frontiers in psychiatry. 2021; 12: 629761.
Improving social cognition and social skills is a challenge faced by individuals with Autism Spectrum Disorder without Intellectual Disability at any age. This process is particularly critical during late adolescence (15-18 years), a developmental phase generally characterized by rich social experiences that usually foster the development of friendships. Nevertheless, for youth with ASD, lingering difficulties in social cognition often hinder their ability to generate responses considered socially appropriated. These social deficits can contribute to isolation that has a detrimental effect on mental health. In adulthood, deficits of social skills are strongly associated with an overall lack of support, characterized by a failure to integrate into the labor market, a high unemployment rate, social isolation, and a higher suicide rate. In clinical settings, social skills groups are well-established therapeutic means to improve social cognition and social skills. Nevertheless, these interventions vary greatly regarding their objectives, contents and duration. Moreover, few have been validated and replicated by research. Our aim is to bring certain perspectives to a type of intervention that are widely used in care settings. After reviewing its positive aspects for increasing social cognition, and its limitations, we will discuss strategies to facilitate the generalization of social skills in an ecological context. In particular, we will base our reflection on our clinical experience and on our current project to adapt the PEERS model for adolescents into French. We will consider the current trend of involving parents as « social coaches » to generalize the social knowledge acquired in the social skills groups.
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19. Walker VL, Carpenter ME, Lyon KJ, Garcia M, Johnson H. Coaching paraeducators to implement functional communication training involving augmentative and alternative communication for students with autism spectrum disorder. Augmentative and alternative communication (Baltimore, Md : 1985). 2021; 37(2): 129-40.
Paraeducators play an important role in assisting teachers and other professionals to support students with autism spectrum disorder (ASD), including delivering positive behavioral supports to those students who engage in persistent challenging behavior. The purpose of this multiple baseline design across participants study was to support paraeducators to implement functional communication training (FCT) to address challenging behavior among three students with ASD who used augmentative and alternative communication (AAC). Paraeducators implemented FCT with high levels of fidelity after participating in an initial training session and follow-up coaching and generally found the initial training and coaching strategies to be effective and feasible. Reductions in challenging behavior were variable across student participants. Implications for practice and future research directions are discussed in relation to FCT for students with ASD who use AAC and paraeducator training.
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20. Žigman T, Petković Ramadža D, Šimić G, Barić I. Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention. Frontiers in neuroscience. 2021; 15: 673600.
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes-MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), Niemann-Pick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. In this review, we briefly describe etiology, clinical presentation, and therapeutic principles, if they exist, for these conditions. Additionally, we suggest the primary and elective laboratory work-up for their successful early diagnosis.
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21. Zupanič S, Kruljac I, Šoštarič Zvonar M, Drobnič Radobuljac M. Case Report: Adolescent With Autism and Gender Dysphoria. Frontiers in psychiatry. 2021; 12: 671448.
There is increasing clinical evidence of an association between gender variability, gender dysphoria (GD), and autism spectrum disorder (ASD). This seems to be a two-way relationship, a person with GD is more likely to be diagnosed with ASD and vice versa. In youth, it is important to distinguish whether the presented symptoms are a manifestation of ASD focus on special interests or symptoms of co-occurring GD. This distinction is crucial in the process of planning reversible and especially irreversible medical procedures in the context of treatment. We present the case of a birth-assigned female adolescent with GD, who enrolled in our clinic at the age of 16.5 years with « being transgender » as her main complaint accompanied by a wish for surgical breast removal. His (as the patient prefers to use male pronouns) medical and developmental history involved obesity, hyperlipidemia, delays in social and language development and specific interests and rituals. He presented with half a year of untreated depression, suicidal thoughts and non-suicidal self-injuring, social phobia and relative social isolation. Comprehensive clinical assessments revealed a female karyotype (46, XX), normal female genitalia and unremarkable hormonal status. Clinical psychological assessments reported GD, ASD with average intellectual abilities and co-occurring symptoms of depression and anxiety. Other disorders, such as psychosis, personality disorder and dysmorphophobia, were excluded during longer-term diagnostic and psychotherapeutic processes. Our first aim was to build a good therapeutic alliance with the patient and treat depression and suicidality. He refused to take sertraline, but took a St. John’s Wort over-the-counter peroral preparation in the form of infusions. His mood improved, he was no longer suicidal and started social transitioning, yet he remained socially phobic. At the time of writing, he is 20 years old, waiting for bilateral mastectomy and receiving regular triptorelin depot and testosterone depot intramuscular injections. Even though the diagnostic procedures and transition process in autistic gender diverse adolescents may take longer than in non-autistic individuals, ASD is not a contraindication to the gender transition process. We present a well-documented case of a slow social and medical transition resulting in gradual improvement of co-occurring symptoms of GD.