1. Comparan-Meza M, Vargas de la Cruz I, Jauregui-Huerta F, Gonzalez-Castañeda RE, Gonzalez-Perez O, Galvez-Contreras AY. Biopsychological correlates of repetitive and restricted behaviors in autism spectrum disorders. Brain and behavior. 2021; 11(10): e2341.

BACKGROUND: Autism Spectrum Disorder (ASD) is considered a neurodevelopmental condition that is characterized by alterations in social interaction and communication, as well as patterns of restrictive and repetitive behaviors (RRBs). RRBs are defined as broad behaviors that comprise stereotypies, insistence on sameness, and attachment to objects or routines. RRBs can be divided into lower-level behaviors (motor, sensory, and object-manipulation behaviors) and higher-level behaviors (restrictive interests, insistence on sameness, and repetitive language). According to the DSM-5, the grade of severity in ASD partially depends on the frequency of RRBs and their consequences for disrupting the life of patients, affecting their adaptive skills, and increasing the need for parental support. METHODS: We conducted a systematic review to examine the biopsychological correlates of the symptomatic domains of RRBs according to the type of RRBs (lower- or higher-level). We searched for articles from the National Library of Medicine (PubMed) using the terms: autism spectrum disorders, ASD, and autism-related to executive functions, inhibitory control, inflexibility, cognitive flexibility, hyper or hypo connectivity, and behavioral approaches. For describing the pathophysiological mechanism of ASD, we also included animal models and followed PRISMA guidelines. RESULTS: One hundred and thirty-one articles were analyzed to explain the etiology, continuance, and clinical evolution of these behaviors observed in ASD patients throughout life. CONCLUSIONS: Biopsychological correlates involved in the origin of RRBs include alterations in a) neurotransmission system, b) brain volume, c) inadequate levels of growth factors, d) hypo- or hyper-neural connectivity, e) impairments in behavioral inhibition, cognitive flexibility, and monitoring and f) non-stimulating environments. Understanding these lower- and higher-level of RRBs can help professionals to improve or design novel therapeutic strategies.

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2. Cruz-Martins N, Quispe C, Kırkın C, Şenol E, Zuluğ A, Özçelik B, Ademiluyi AO, Oyeniran OH, Semwal P, Kumar M, Sharopov F, López V, Les F, Bagiu IC, Butnariu M, Sharifi-Rad J, Alshehri MM, Cho WC. Paving Plant-Food-Derived Bioactives as Effective Therapeutic Agents in Autism Spectrum Disorder. Oxidative medicine and cellular longevity. 2021; 2021: 1131280.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, where social and communication deficits and repetitive behaviors are present. Plant-derived bioactives have shown promising results in the treatment of autism. In this sense, this review is aimed at providing a careful view on the use of plant-derived bioactive molecules for the treatment of autism. Among the plethora of bioactives, curcumin, luteolin, and resveratrol have revealed excellent neuroprotective effects and can be effectively used in the treatment of neuropsychological disorders. However, the number of clinical trials is limited, and none of them have been approved for the treatment of autism or autism-related disorder. Further clinical studies are needed to effectively assess the real potential of such bioactive molecules.

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3. de Jong JO, Llapashtica C, Genestine M, Strauss K, Provenzano F, Sun Y, Zhu H, Cortese GP, Brundu F, Brigatti KW, Corneo B, Migliori B, Tomer R, Kushner SA, Kellendonk C, Javitch JA, Xu B, Markx S. Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder. Nature communications. 2021; 12(1): 4087.

We utilized forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of Autism Spectrum Disorder (ASD) with a homozygous protein-truncating mutation in CNTNAP2, to study its effects on embryonic cortical development. Patients with this mutation present with clinical characteristics of brain overgrowth. Patient-derived forebrain organoids displayed an increase in volume and total cell number that is driven by increased neural progenitor proliferation. Single-cell RNA sequencing revealed PFC-excitatory neurons to be the key cell types expressing CNTNAP2. Gene ontology analysis of differentially expressed genes (DEgenes) corroborates aberrant cellular proliferation. Moreover, the DEgenes are enriched for ASD-associated genes. The cell-type-specific signature genes of the CNTNAP2-expressing neurons are associated with clinical phenotypes previously described in patients. The organoid overgrowth phenotypes were largely rescued after correction of the mutation using CRISPR-Cas9. This CNTNAP2-organoid model provides opportunity for further mechanistic inquiry and development of new therapeutic strategies for ASD.

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4. Du X, Chen J, Wu ZF, Liang S. [Effect on the core symptoms in children with autism spectrum disorder treated with acupuncture at « ghost points » combined with the acupoints selected by syndrome differentiation]. Zhen ci yan jiu = Acupuncture research. 2021; 46(8): 695-9.

OBJECTIVE: To explore the effect on the core symptoms in children with autism spectrum disorder (ASD) treated with acupuncture at « ghost points », combined with the acupoints selected by syndrome differentiation. METHODS: A total of 124 ASD children were divided into a control group and a treatment group according to random number table, 62 cases in each group. In the control group, the routine rehabilitation treatment was provided in all of children, while in the treatment group, acupuncture was exerted at « ghost points », combined with the acupoints selected by syndrome differentiation. Acupuncture treatment was conducted for 15 min each time, 5 days weekly, for 3 months totally. Before and after treatment, the children were assessed with autism spectrum rating scale (ASRS) in two groups. RESULTS: After treatment, the total score (T-score) of ASRS and the score of each sub-scale, e.g. peer socialization, adult socialization, social/emotional reciprocity, atypical language, stereotypy, repetitive behavior, sensory sensitivity, attention/self-regulation were all reduced remarkably as compared with those before treatment in intra-group comparison (P<0.05, P<0.01). Compared with the control group, the scores aforementioned were all significantly reduced in the treatment group (P<0.05). CONCLUSION: Acupuncture at "ghost poitns" combined with the acupoints selected by syndrome differentiation effectively relieves the core symptoms of ASD in children and improves the holistic therapeutic effect.

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5. Gillespie-Lynch K, Bisson JB, Saade S, Obeid R, Kofner B, Harrison AJ, Daou N, Tricarico N, Delos Santos J, Pinkava W, Jordan A. If you want to develop an effective autism training, ask autistic students to help you. Autism : the international journal of research and practice. 2021: 13623613211041006.

Autistic university students are often left out because people do not understand autism. We wanted to help people understand autism. Most autism trainings are not made by autistic people. Autistic people know what it is like to be autistic. So autistic people may be the best teachers when it comes to teaching about autism. Autistic students and non-autistic professors made an autism training. The students made videos for the training. They also helped make questions to see what people learned from the trainings. Professors who are not autistic made a training on their own. Students in New York City tried out the trainings. After they answered questions, they did either the training the autistic students helped make or the training made by only professors. Then, they answered questions again. We learned from the students how to make our trainings better. Then, students from two universities in the United States and one university in Lebanon did our trainings and questions. Both trainings made hidden feelings about autism better. The training autistic students helped make taught students more than the training professors made on their own. The autistic-led training also helped students accept autism more. These studies show that autistic students can make autism research and trainings better. At the end of this article, autistic students share their ideas for how to make autism trainings even better in the future.

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6. Ivins-Lukse M, Lee EJ. Self-compassion mediates stigma for parents of transition-age youth with intellectual and developmental disabilities. Rehabilitation psychology. 2021; 66(3): 265-72.

Objective: The current study assessed self-reported self-compassion, courtesy stigma, life satisfaction, and depression among parents of transition-age youth with intellectual and developmental disabilities (IDDs). This study tests the hypothesis that self-compassion is a mediator between courtesy stigma and parents’ psychosocial adjustment. Method: One hundred parents of transition-age youth with IDDs completed a cross-sectional survey assessing courtesy stigma, self-compassion, life satisfaction, and depression. Study information was disseminated via community organizations, and participants self-selected to participate. « PROCESS » macro with 5,000 bootstrapped samples was used to test self-compassion as a mediator between courtesy stigma and parents’ life satisfaction (Satisfaction With Life Scale) and depressive symptoms (Center for Epidemiologic Studies Short Depression Scale). Results: Self-compassion partially mediated the relationship between courtesy stigma and caregiver depressive symptoms (effect = .28, CI [.16, .45]). Self-compassion did not mediate the relationship between courtesy stigma and satisfaction with life. Implications: Findings suggest self-compassion could be leveraged to help counter the effects of courtesy stigma on parents. Future research should seek to explore potential differences in these relationships according to cultural factors or by diagnostic group. (PsycInfo Database Record (c) 2021 APA, all rights reserved).

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7. Johnson DL, Abdala Villa C, Lustig MC, Robin NH. The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report. American journal of medical genetics Part A. 2021; 185(11): 3507-9.

Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung’s disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.

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8. Lampos V, Mintz J, Qu X. An artificial intelligence approach for selecting effective teacher communication strategies in autism education. NPJ science of learning. 2021; 6(1): 25.

Effective inclusive education is key in promoting the long-term outcomes of children with autism spectrum conditions (ASC). However, no concrete consensus exists to guide teacher-student interactions in the classroom. In this work, we explore the potential of artificial intelligence as an approach in autism education to assist teachers in effective practice in developing social and educational outcomes for children with ASC. We form a protocol to systematically capture such interactions, and conduct a statistical analysis to uncover basic patterns in the collected observations, including the longer-term effect of specific teacher communication strategies on student response. In addition, we deploy machine learning techniques to predict student response given the form of communication used by teachers under specific classroom conditions and in relation to specified student attributes. Our analysis, drawn on a sample of 5460 coded interactions between teachers and seven students, sheds light on the varying effectiveness of different communication strategies and demonstrates the potential of this approach in making a contribution to autism education.

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9. Lesieur-Sebellin M, Capri Y, Grisval M, Courtin T, Burtz A, Thevenon J, Buratti J, Lejeune E, Faivre L, Keren B. Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature. European journal of medical genetics. 2021; 64(11): 104323.

Transcription factor IID is a multimeric protein complex that is essential for the initiation of transcription by RNA polymerase II. One of its critical components, the TATA-binding protein-associated factor 2, is encoded by the gene TAF2. Pathogenic variants of this gene have been shown to be responsible for the Mental retardation, autosomal recessive 40 syndrome. This syndrome is characterized by severe intellectual disability, postnatal microcephaly, pyramidal signs and thin corpus callosum. Until now, only three families have been reported separately. Here we report four individuals, from two unrelated families, who present with severe intellectual disability and global developmental delay, postnatal microcephaly, feet deformities and thin corpus callosum and who carry homozygous TAF2 missense variants detected by Exome Sequencing. Taken together, our findings and those of previously reported subjects allow us to further delineate the clinical phenotype associated with TAF2 biallelic mutations.

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10. Ludwig NN, Child AE, Jashar DT, Mostow AJ, Wodka EL. Telehealth diagnosis of autism spectrum disorder through clinical cases. The Clinical neuropsychologist. 2021: 1-21.

A diagnosis of autism spectrum disorder (ASD) provides access to interventions that are important for fostering development and improving quality of life. Thus, the timeliness of a diagnosis should not be limited by social-distancing limitations whenever possible. Despite this, clear guidance for transitioning autism diagnostic services to a telehealth model of care in the era of the COVID-19 pandemic is lacking. At our Institute, we have adapted our approach to ASD evaluation to promote continued access to evaluation services during this unprecedented time. The purpose of this case series is to provide examples of three different approaches to ASD differential diagnostic services via telehealth that we have taken at our Institute. We illustrate our methods and clinical decision-making, based on patient characteristics and referral aims, in providing telehealth diagnostic services and discuss the advantages and limitations of telehealth utilization in the differential diagnosis of ASD. At our Institute, telehealth services have provided an invaluable opportunity to continue to confirm (or rule out) an ASD diagnosis when appropriate to facilitate access to services during this time. Future research examining the utility of telehealth in the differential diagnosis of ASD is imperative given the potential advantages of telehealth services beyond the COVID-19 pandemic for some patients.

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11. Naguy A. Sulpiride for Autism Spectrum Disorder. The primary care companion for CNS disorders. 2021; 23(5).

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12. Singh J, Lanzarini E, Nardocci N, Santosh P. Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations. Psychiatry and clinical neurosciences. 2021; 75(12): 369-93.

AIM: This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). METHOD: Using PRISMA criteria, six electronic databases were searched from inception to April 2021. A thematic analysis was then undertaken on the extracted data to identify potential themes. RESULTS: Following the thematic analysis, six themes emerged: (i) clinical features of abnormal movement behaviors; (ii) mutational profile and its impact on movement disorders; (iii) symptoms and stressors that impact on movement disorders; (iv) possible underlying neurobiological mechanisms; (v) quality of life and movement disorders; and (vi) treatment of movement disorders. Current guidelines for managing movement disorders in general were then reviewed to provide possible treatment recommendations for RTT. CONCLUSION: Our study offers an enriched data set for clinical investigations and treatment of fine and gross motor issues in RTT. A detailed understanding of genotype-phenotype relationships of movement disorders allows for more robust genetic counseling for families but can also assist healthcare professionals in terms of monitoring disease progression in RTT. The synthesis also showed that environmental enrichment would be beneficial for improving some aspects of movement disorders. The cerebellum, basal ganglia, alongside dysregulation of the cortico-basal ganglia-thalamo-cortical loop, are likely anatomical targets. A review of treatments for movement disorders also helped to provide recommendations for treating and managing movement disorders in patients with RTT.

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13. Torres CV, Martínez N, Ríos-Lago M, Lara M, Alvarez-Linera J, Cabanyes J, Dorado ML, Cabrera W, Rey G, Martínez-Alvarez R. Surgery and Radiosurgery in Autism: A Retrospective Study in 10 Patients. Stereotactic and functional neurosurgery. 2021; 99(6): 474-83.

INTRODUCTION: A subgroup of patients with autism spectrum disorder (ASD) show self or heteroaggression, dyscontrol episodes, and others are of obsessive-compulsive disorder (OCD) profile; some of them are resistant to medical and behavioural treatment. We describe the long-term outcome in a group of these patients, treated with radiofrequency brain lesions or combined stereotactic surgery and Gamma Knife (GK) radiosurgery. METHODS: We reviewed the medical records of 10 ASD patients with pathological aggressiveness and OCD, who had undergone radiofrequency lesions and/or radiosurgery with GK in our institution. RESULTS: The 10 patients had a significant reduction of their symptoms (PCQ 39.9 and 33, OAS 11.8 and 5, CYBOCS-ASD 30.4 and 20), preoperatively and in the last follow-up, respectively; p < 0.005 (in all cases), although all but 2 needed more than 1 treatment to maintain this improvement. CONCLUSIONS: We observed a marked improvement in behaviour, quality of life, and relationship with the environment in all our 10 patients after the lesioning treatments, without long-lasting side effects.

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14. Yoon S, Munoz A, Yamrom B, Lee YH, Andrews P, Marks S, Wang Z, Reeves C, Winterkorn L, Krieger AM, Buja A, Pradhan K, Ronemus M, Baldwin KK, Levy D, Wigler M, Iossifov I. Rates of contributory de novo mutation in high and low-risk autism families. Communications biology. 2021; 4(1): 1026.

Autism arises in high and low-risk families. De novo mutation contributes to autism incidence in low-risk families as there is a higher incidence in the affected of the simplex families than in their unaffected siblings. But the extent of contribution in low-risk families cannot be determined solely from simplex families as they are a mixture of low and high-risk. The rate of de novo mutation in nearly pure populations of high-risk families, the multiplex families, has not previously been rigorously determined. Moreover, rates of de novo mutation have been underestimated from studies based on low resolution microarrays and whole exome sequencing. Here we report on findings from whole genome sequence (WGS) of both simplex families from the Simons Simplex Collection (SSC) and multiplex families from the Autism Genetic Resource Exchange (AGRE). After removing the multiplex samples with excessive cell-line genetic drift, we find that the contribution of de novo mutation in multiplex is significantly smaller than the contribution in simplex. We use WGS to provide high resolution CNV profiles and to analyze more than coding regions, and revise upward the rate in simplex autism due to an excess of de novo events targeting introns. Based on this study, we now estimate that de novo events contribute to 52-67% of cases of autism arising from low risk families, and 30-39% of cases of all autism.

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