Pubmed du 02/08/22
1. Alkhateeb JM, Hadidi MS, Mounzer W. The Impact of Autism Spectrum Disorder on Parents in Arab Countries: A Systematic Literature Review. Front Psychol;2022;13:955442.
BACKGROUND: Having a child with autism spectrum disorder can have significant psychological effects on parents. This systematic review summarizes the current state of literature underscoring the impact of autism spectrum disorder (ASD) on parents in Arab countries. METHODS: A systematic search of seven databases (PubMed, Scopus, ProQuest, Google Scholar, ERIC, Academic Search Complete, and PsycINFO) was performed, which identified 24 studies (20 quantitative studies and four qualitative studies) that included 3,299 parents or caregivers of children with ASD. These studies were conducted in 10 Arab countries (Saudi Arabia, Jordan, Egypt, Kuwait, Bahrain, Oman, Emirates, Palestine, Qatar, and Lebanon). RESULTS: The majority of the included studies found that ASD has a significant negative impact on the mental health and wellbeing of Arab parents. It was found that parents of children with ASD have a poor quality of life (QoL) and an increased risk of psychological disorders. These findings were in contrast to findings of parents of typically developing children and children with other developmental disorders. Challenges faced by parents of children with ASD were associated with several child- and parent-related factors. The most common coping strategy used by parents was religious coping. CONCLUSION: The impact of ASD on parents has only recently gained traction among researchers in Arab countries. Despite several knowledge gaps, published studies have provided useful information outlining the impact of ASD on parents in some of these countries. Further research comprising larger random samples and using varied research and data-collection methods is required to understand the multifaceted challenges experienced by parents raising children with ASD in Arab countries.
Lien vers le texte intégral (Open Access ou abonnement)
2. Alwahbi AA. The Efficacy of Virtual Positive Behavior Support in a Special School for Students with ASD. J Behav Educ;2022 (Jul 25):1-19.
In response to the demand for adopting a social justice system to manage students’ challenging behaviors, many countries are implementing positive behavior support (PBS) programs at the school level. However, the use of PBS in Saudi Arabian schools is still a goal rather than reality. It is strongly evident that school-wide PBS can be applicable to different educational contexts. Therefore, the purpose of this study was to evaluate the efficacy of a virtual school-wide positive behavior support program for students with autism spectrum disorder (ASD) in Saudi Arabia. Teaching and reinforcement procedures were implemented to help the students replace interfering classroom behaviors with alternative, appropriate behaviors. Observations were conducted to collect data on the students’ classroom behaviors. The results of the study showed that there was an immediate and major improvement in the students’ behaviors upon the introduction of the program. The results support the conclusion that school-wide positive behavior support can be successfully applied to different educational settings and suggest several implications for special and general education schools.
Lien vers le texte intégral (Open Access ou abonnement)
3. Attia SM, Ahmad SF, Nadeem A, Attia MSM, Ansari MA, Al-Hamamah MA, Hussein MH, Alameen AA, Alasmari AF, Bakheet SA. Multiple exposure to methylmercury aggravates DNA damage in the BTBR T (+) Itpr3 (tf)/J autistic mouse model: The role of DNA repair efficiency. Toxicology;2022 (Jul);477:153277.
Environmental and genetic factors have been recognized to play major roles in the pathogenesis of autism. Here we examined the BTBR T(+)Itpr3(tf)/J (BTBR) mice’s susceptibility, an autistic model, to the genotoxic effects and DNA repair dysregulation of methylmercury. Micronuclei formation and oxidative DNA damage were analyzed using the micronucleus/fluorescence in situ hybridization test and modified comet assay, respectively. The results showed higher centromeric-positive micronuclei and oxidative DNA damage in BTBR mice exposed to methylmercury than the unexposed mice, which indicates that mutagenesis aggravated in BTBR mice after methylmercury exposure. Lipid peroxides in BTBR mice were significantly elevated, with a decrease in reduced/oxidized glutathione ratio after methylmercury exposure, indicating an augmenting oxidant-antioxidant imbalance. The expression of several genes involved in DNA repair was markedly altered in BTBR mice after methylmercury exposure as evaluated via PCR array and RT-PCR analyses. Declining of the antioxidant defense and dysregulation in DNA repair process after methylmercury exposure may explain the aggravated genotoxic susceptibility of BTBR mice. Thus, autistic individuals exposed to methylmercury must be under regular medical follow-up through standard timetabled medical laboratory inquiry to allow for early recognition of any mutagenic changes. Additionally, strategies that elevate cellular antioxidants/DNA repair efficiency may counteract methylmercury-induced genotoxicity.
Lien vers le texte intégral (Open Access ou abonnement)
4. Barber C. Anticipatory grief and bereavement: the perspective of an individual with autism. Br J Community Nurs;2022 (Aug 2);27(8):378-383.
Much has been written around the meaning and impact of grief and grieving on people’s lives following the death of a person, and anticipatory grief/grieving is receiving increased attention in nursing and healthcare. However, the impact of anticipatory grief on an autistic male adult has received far less research exposure than that of neurotypical (non-autistic) adults. This article, ‘written’ in the form of a letter by the author to community nurses, seeks to address this. The intention is to initiate reflective discussions around anticipatory grief and grieving, as current and future support will be stimulated on the part of community nurses through dialogue between those on the autistic spectrum and community nurses. Ultimately, the aim of this article is to help improve the support provided by community nurses to autistic individuals.
Lien vers le texte intégral (Open Access ou abonnement)
5. Batton B, Kaplan R, Ellis K, Schmidt C, Nudelman E. Telehealth Training in Principles of Applied Behavior Analysis for Caregivers of Young Children with Autism Spectrum Disorders during the COVID-19 Pandemic. Educ Treat Children;2022 (Aug 2):1-5.
Following the outbreak of the COVID-19 pandemic, the U.S. government declared a state of emergency and many applied behavior analysis clinics temporarily closed. The current study described a pilot of an existing manualized caregiver behavior skills training, the Online and Applied System of Intervention Skills (OASIS), to promote telehealth caregiver training during the pandemic and facilitate the start of early intervention for families on waitlists. The OASIS telehealth curriculum trains caregivers to use applied behavior analysis with their children with autism spectrum disorder. Pre/post measures suggest that OASIS modestly improved parent knowledge, improved perceived quality of life, decreased stress, improved caregiver self-efficacy, and was viewed positively by participating families.
Lien vers le texte intégral (Open Access ou abonnement)
6. Cao M, Gu T, Jin C, Li X, Jing J. Sugar-Sweetened Beverage Intake and Motor Function Among Autistic and Typically Developed Children. Front Nutr;2022;9:905025.
BACKGROUND AND OBJECTIVES: The relationship between brain function and sugar-sweetened beverages (SSBs) is widely explored, but the motor function was not included. We aim to explore the relationship between SSBs and motor function among children with or without autism. METHODS: Participants were a representative autism sample (ASD, n = 106) comprising ages ranging 6-9 years and their age-matched typical counterparts (TD, n = 207), recruited in the research center of Guangzhou, China. Valid questionnaires of parent-reported including weekly SSBs intake, physical activity (PA), sedentary time (ST), and motor coordination function was used to collect relevant information. SSBs intake was further classified as no intake (no habit of taking SSBs), small to medium intake (<375 ml/week), and large intake (375 ml/week or more). Physical activity, sedentary time, and motor coordination function among the mentioned three groups as well as ASD vs. TD was compared via general linear models. RESULTS: Compared with TD children, ASD children showed less vigorous PA (4.23 ± 0.34 h vs. 2.77 ± 0.49 h, p = 0.015) as well as overall sedentary time (5.52 ± 1.89 h vs. 3.67 ± 0.28 h, 3.49 ± 0.16 h vs. 2.68 ± 0.24 h, and 34.59 ± 1.15 h vs. 23.69 ± 1.69 h, TD vs. ASD, sedentary time at weekdays, weekends and total ST in a week, respectively, all p < 0.05), lower scores in the developmental coordination disorder questionnaire (fine motor and handwriting: 14.21 ± 0.26 vs. 12.30 ± 0.38, general coordination: 28.90 ± 0.36 vs. 25.17 ± 0.53, control during movement: 24.56 ± 0.36 vs. 18.86 ± 0.53, and total score: 67.67 ± 0.75 vs. 56.33 ± 1.10, TD vs. ASD, all p < 0.05). Stratified by SSBs intake, TD children with small to medium SSBs intake showed the lowest sedentary time both on weekdays and weekends (all p < 0.05), they also performed worst in fine motor and handwriting skills (p < 0.05). CONCLUSION: The association between SSBs and motor function was observed in typical development children, but not autistic children. A larger sample size study with a longitudinal design is warranted to confirm the association between SSBs and sedentary time among typically developed children and the potential causation direction.
Lien vers le texte intégral (Open Access ou abonnement)
7. Chen G, Yu B, Tan S, Tan J, Jia X, Zhang Q, Zhang X, Jiang Q, Hua Y, Han Y, Luo S, Hoekzema K, Bernier RA, Earl RK, Kurtz-Nelson EC, Idleburg MJ, Khetarpal SM, Clark R, Sebastian J, Fernandez-Jaen A, Alvarez S, King SD, Ramos LL, Santos MLS, Martin DM, Brooks D, Symonds JD, Cutcutache I, Pan Q, Hu Z, Yuan L, Eichler EE, Xia K, Guo H. GIGYF1 disruption associates with autism and impaired IGF-1R signaling. J Clin Invest;2022 (Aug 2)
Autism spectrum disorder (ASD) represents a group of neurodevelopmental phenotypes with a strong genetic component. Excess of likely gene-disruptive (LGD) mutations of GIGYF1 was implicated in ASD. Here, we reported that GIGYF1 was the second most mutated gene among known ASD high-confidence risk genes. We investigated the inheritance of 46 GIGYF1 LGD variants, including the highly recurrent mutation, c.333del:p.L111Rfs*234. Inherited GIGYF1 heterozygous LGD variants were 1.8 times more common than de novo mutations. Unlike most high-confidence genes, ASD individuals with GIGYF1 LGD variants were less likely to have cognitive impairments. Using a Gigyf1 conditional knockout mouse model, we showed that haploinsufficiency in the developing brain led to social impairments without significant cognitive impairments. In contrast, homozygous mice showed more severe social disability as well as cognitive impairments. Gigyf1 deficiency in mice led to a reduction of upper layer cortical neurons accompanied by decreased proliferation and increased differentiation of neural progenitor cells. We showed that GIGYF1 regulated the recycling of IGF-1R to cell surface. Knockout of GIGYF1 led to a decreased level of IGF-1R on the cell surface disrupting the IGF-1R/ERK signaling pathway. In summary, our findings showed that GIGYF1 was a regulator of IGF-1R recycling. Haploinsufficiency of GIGYF1 was associated with autistic behaviors likely through interference with IGR-1R/ERK signaling pathway.
Lien vers le texte intégral (Open Access ou abonnement)
8. Chen Z, Long H, Guo J, Wang Y, He K, Tao C, Li X, Jiang K, Guo S, Pi Y. Autism-Risk Gene necab2 Regulates Psychomotor and Social Behavior as a Neuronal Modulator of mGluR1 Signaling. Front Mol Neurosci;2022;15:901682.
BACKGROUND: De novo deletion of the neuronal calcium-binding protein 2 (NECAB2) locus is associated with idiopathic autism spectrum disorders (ASDs). The in vivo function of NECAB2 in the brain remains largely elusive. METHODS: We investigated the morphological and behavioral profiles of both necab2 knock-out and overexpression zebrafish models. The expression pattern and molecular role of necab2 were probed through a combination of in vitro and in vivo assays. RESULTS: We show that Necab2 is a neuronal specific, cytoplasmic, and membrane-associated protein, abundantly expressed in the telencephalon, habenula, and cerebellum. Necab2 is distributed peri-synaptically in subsets of glutamatergic and GABAergic neurons. CRISPR/Cas9-generated necab2 knock-out zebrafish display normal morphology but exhibit a decrease in locomotor activity and thigmotaxis with impaired social interaction only in males. Conversely, necab2 overexpression yields behavioral phenotypes opposite to the loss-of-function. Proteomic profiling uncovers a role of Necab2 in modulating signal transduction of G-protein coupled receptors. Specifically, co-immunoprecipitation, immunofluorescence, and confocal live-cell imaging suggest a complex containing NECAB2 and the metabotropic glutamate receptor 1 (mGluR1). In vivo measurement of phosphatidylinositol 4,5-bisphosphate further substantiates that Necab2 promotes mGluR1 signaling. CONCLUSIONS: Necab2 regulates psychomotor and social behavior via modulating a signaling cascade downstream of mGluR1.
Lien vers le texte intégral (Open Access ou abonnement)
9. Corbett BA, Muscatello RA, Kim A, Vandekar S, Duffus S, Sparks S, Tanguturi Y. Examination of pubertal timing and tempo in females and males with autism spectrum disorder compared to typically developing youth. Autism Res;2022 (Aug 1)
Autism spectrum disorder (ASD) is characterized by impaired social communication and poor adaptation to change; thus, pubertal development may be precarious. Pubertal timing and tempo were measured in 244 youth (7.9% Black, 83.3% White, and 8.7% multiracial) with ASD (N = 140) and typical development (N = 104). Pubertal development was measured using Tanner staging of Genital (G, males), Breast (B, females), and pubic hair (PH) in both sexes at Year 1 (10-13 years), Year 2 (11-14 years), and Year 3 (12-15 years). Nonlinear mixed effects models analyzed interindividual differences in timing and tempo. For both sexes, ASD and higher body mass index were associated with earlier pubertal timing. Males generally exhibited faster tempo than females. Linear regression models did not show associations between pubertal timing and internalizing symptoms at time three. Findings showing advanced pubertal maturation in ASD youth suggest greater risk of psychological, social, and physiological challenges. LAY SUMMARY: Youth with ASD have difficulty in social communication and adaption to change, thus puberty may be a challenging transition. The study examined onset (timing) and progression (tempo) of puberty over three years, using physical exam, in 244 adolescents with and without ASD, enrolled at ages 10-13. ASD youth started puberty earlier, while males generally progressed at a faster pace. Further examination of puberty in ASD should identify impact on social, behavioral, and mental health outcomes.
Lien vers le texte intégral (Open Access ou abonnement)
10. Cornwall PL, Simpson S, Gibbs C, Morfee V. Evaluation of radically open dialectical behaviour therapy in an adult community mental health team: effectiveness in people with autism spectrum disorders – ERRATUM. BJPsych Bull;2022 (Aug 1):1.
Lien vers le texte intégral (Open Access ou abonnement)
11. Crespi BJ. The hallmarks of autism. Front Psychiatry;2022;13:937163.
I suggest that the current study of autism is problematic, due to: (1) its failure to pursue a medical model of disease causation, with protocols for differential diagnoses of causes; (2) a notable incidence of unrecognized false positive diagnoses in children; (3) the conceptual equating of autism with sets of traits that have been shown to be genetically and phenotypically unrelated to one another; and (4) the expansion of use of the terms « autism » and « autism traits » to psychiatric conditions that have no substantive etiological or symptomatic overlap with autism. These problems can be alleviated by, like Kanner, considering autism as a syndrome, a constellation of traits, conceptualized as differences rather than deficits, some set of which is found in each affected individual to some degree. The original, prototypical form of autism can be delineated based on the « hallmarks » of autism: a set of core traits, originally explicated by Kanner, that defines a relatively-homogeneous group, and that connects with the larger set of autism symptoms. The hallmarks of autism provide a touchstone for research that is unambiguous, historically continuous to the present, and linked with major theories for explaining the causes and symptoms of autism. Use of the hallmarks of autism does not impact recognition and treatment of individuals with DSM diagnosed autism, or individuals with the many disorders that involve social deficits. This perspective is compatible with the research domain criteria approach to studying autism, via analyses of autism’s constituent traits and the differential diagnosis of its individual-specific causes.
Lien vers le texte intégral (Open Access ou abonnement)
12. Dell’Osso L, Cremone IM, Chiarantini I, Arone A, Casagrande D, Massimetti G, Carmassi C, Carpita B. Investigating Orthorexia Nervosa With the ORTO-R in a Sample of University Students With or Without Subthreshold Autism Spectrum: Focus on Dietary Habits and Gender Differences. Front Psychiatry;2022;13:900880.
BACKGROUND: The aim of the present study was to investigate the presence of Orthorexia (ON) symptoms in a sample of University students with or without autistic traits (AT), specifically focusing on evaluating the role of gender and of dietary habits in the association between ON and autism spectrum. METHODS: Subjects were requested to anonymously fill out the questionnaires through an online form. RESULTS: Two thousand one hundred forty students participated in the study. Subjects with significant AT, measured by means of the Adult Autism Sub-threshold spectrum (AdAS Spectrum) reported significantly higher ON symptoms, as measured by ORTO-R scores, than subjects with low AT. Females and subjects following a vegetarian/vegan diet reported significantly higher ORTO-R scores than males and than subjects following an omnivorous diet, respectively. Significant positive correlations were found between ORTO-R and AdAS Spectrum scores. A decision tree model, with gender, type of diet and presence of high AT as independent variables and ORTO-R score as dependent variable, showed in the first step the presence of significantly higher ORTO-R scores among females than among males, and in the second step showed in both genders the presence of higher ORTO-R scores among subjects with high AT than in those with low AT. A significant interaction of gender and presence/absence of high AT was reported on ORTO-R score, with a higher increasing trend of ORTO-R score with the increase of AdAS Spectrum score among females than among males. CONCLUSIONS: Our results further highlighted the association between AT and ON, in particular among females.
Lien vers le texte intégral (Open Access ou abonnement)
13. DuBay M, Sideris J, Rouch E. Is traditional back translation enough? Comparison of translation methodology for an ASD screening tool. Autism Res;2022 (Aug 1)
Early identification of autism spectrum disorders (ASD) in non-English speaking children often relies on translation of English ASD screening measures. Most measures employ a forward-back translation approach, despite data suggesting that this method may result in poor psychometric properties. Some studies in non-ASD fields have suggested that a rigorous method of translation with cultural adaptation may yield better psychometric properties, but no studies in the ASD field have compared the two approaches directly. This investigation compares these two translation methodologies to determine if they produce psychometrically similar or dissimilar measures. Three hundred and eighty US-based Spanish-speaking caregivers of children 8-16 months old were randomly assigned to complete either a forward-back Spanish translation or a rigorous translation with cultural adaptation of a parent-report ASD screening tool. Measurement invariance analyses determined that the two translations were psychometrically dissimilar. Additional qualitative explanatory methods using cognitive interviews examined textual differences and participant preferences between non-invariant items. LAY SUMMARY: Autism screening questionnaires created in English need to be translated into other languages so non-English speaking parents can fill them out accurately. Traditionally, researchers have not considered cultural differences when they translate these questionnaires. When we compared a direct translation to a translation with cultural adaptations, the two questionnaires were statistically different. Parents interpreted and responded to the same questions differently, depending on which version they filled out.
Lien vers le texte intégral (Open Access ou abonnement)
14. Gao J, Zou J, Yang L, Zhao J, Wang L, Liu T, Fan X. Alteration of peripheral cortisol and autism spectrum disorder: A meta-analysis. Front Psychiatry;2022;13:928188.
Cortisol is the main HPA axis hormone secreted by the adrenal cortex, and influences metabolism, cognition, and behavior. Recently, a plethora of studies have tried to confirm the correlation between peripheral cortisol and autism spectrum disorder (ASD). However, the results were controversial. We assessed the effects of peripheral cortisol on ASD in this study. The included studies were identified according to the inclusion and exclusion criteria. The pooled Hedges’ g and its 95% confidence interval were selected to evaluate the association between peripheral cortisol and ASD. Subgroup analyses, sensitivity analyses, meta-regression, and publication bias tests were also undertaken based on the obtained information. There were a total of twelve studies with 375 ASD patients and 335 controls included in our meta-analysis. Obvious heterogeneity across studies was found in the overall analysis. Peripheral cortisol levels were significantly elevated in ASD patients compared with controls in the absence of obvious heterogeneity. A single study did not influence the overall comparison results. Meta-regression analyses revealed that age and gender of the included subjects, sample size, and publication year did not moderate effects on the present results. These findings may provide us some targeted strategies to the diagnosis and treatment of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
15. Kenworthy L, Childress D, Armour AC, Verbalis A, Zhang A, Troxel M, Handsman R, Kocher K, Myrick Y, Werner M, Alexander KC, Cannon L, Anthony LG. Leveraging technology to make parent training more accessible: Randomized trial of in-person versus online executive function training for parents of autistic children. Autism;2022 (Aug 2):13623613221111212.
This study compared the first online parent training program for executive function intervention for autism to in-person parent training on the same content. Participants were parents of autistic children, who were between 8 and 12 years of age and did not have intellectual disability. Parents were randomized to the in-person (n = 51) or online (n = 46) training conditions. Both trainings were developed with stakeholder (parents and autistic people) guidance. In this trial, most parents reported that they liked both trainings and that they were able to implement what they learned with their children. Parents in both groups spent equivalent amounts of time (about 8 hours) with the training materials, but while 94% of parents in the in-person training attended both parent trainings, only 59% of parents in the online group completed all 10 online modules. Parents reported that it was difficult to stay motivated to complete the online trainings over the 10-week trial. Parent and child outcomes did not differ significantly between the groups. Overall, parents reported that the trainings resulted in a reduction in their own parenting strain and improvements in their child’s flexibility, emotional control, and global executive function, but not planning and organization. These findings indicated brief in-person and online training can help parents learn to support and improve their autistic children’s executive function abilities, reducing their own experience of parenting strain. The finding that the online training was equivalent to the in-person trainings is important because it is accessible to parents who encounter barriers to in-person care.
Lien vers le texte intégral (Open Access ou abonnement)
16. Kumar R, Halder V, Shrimanth YS, Gawalkar AA, Chauhan R, Prasad K, Rohit MKU, Karri S, Walia S, Singh A. Acquired cyanosis secondary to RVOT obstruction due to pacemaker lead prolapse and vegetation in a child with ASD. J Cardiol Cases;2022 (Apr);25(4):207-209.
Pacemaker implantation in the paediatric population is associated with significant perioperative complications. We report a child with atrial septal defect who developed cyanosis following pacemaker implantation. An 8-year-old male child presented to us with fever of 2 months, along with cyanosis and clubbing. He underwent endocardial transvenous pacemaker implantation for congenital complete heart block. His echocardiography revealed right atrial vegetation (1 × 1 cm), moderate tricuspid regurgitation, and a prolapsed lead loop extending into the right ventricular outflow tract and pulmonary valve causing severe obstruction of pulmonary valve. He was started on empirical treatment followed by sensitive antibiotics based on culture report; however due to recurrent ventricular tachycardia he was taken for emergency surgery. He underwent closure of atrial septal defect, removal of pulse generator, removal of endocardial leads/vegetation, and pulmonary valve repair. Postoperative echocardiography revealed mild tricuspid regurgitation and resolution of pulmonic stenosis. This case presents a rare complication of severe right ventricular outflow tract obstruction following pacemaker implantation.
Lien vers le texte intégral (Open Access ou abonnement)
17. Lew-Koralewicz A. Psychosocial Functioning and the Educational Experiences of Students with ASD during the COVID-19 Pandemic in Poland. Int J Environ Res Public Health;2022 (Aug 2);19(15)
Due to their individual developmental and learning needs, adolescents with autism spectrum disorder (ASD) benefit from a variety of educational, medical, and therapeutic services. During the COVID-19 pandemic, these services were discontinued or significantly reduced, which may have resulted in increased difficulties in coping with various areas of life. The purpose of this study was to explore how the pandemic affected the psychosocial and educational functioning of students with ASD. A qualitative, problem-focused interview method was used. The obtained material was subjected to interpretive phenomenological analysis. The study involved 10 secondary school students diagnosed with ASD. The assessment of the effects of the pandemic on the functioning of people with ASD is inconclusive. The respondents noted both negative and positive effects of lockdown. On the positive side, they were able to spend time with their family, isolate themselves from difficult social relationships and feel better. Among the negative effects, adolescents point to difficulties in emotional functioning-increased levels of stress and anxiety, as well as increased feelings of loneliness and difficulties with online education. The study showed the varied experiences of young people with autism during the pandemic, highlighting the significant need to support some of them in terms of their emotional, social and educational functioning.
Lien vers le texte intégral (Open Access ou abonnement)
18. Lombardo B, Pagani M, De Rosa A, Nunziato M, Migliarini S, Garofalo M, Terrile M, D’Argenio V, Galbusera A, Nuzzo T, Ranieri A, Vitale A, Leggiero E, Di Maio A, Barsotti N, Borello U, Napolitano F, Mandarino A, Carotenuto M, Heresco-Levy U, Pasqualetti M, Malatesta P, Gozzi A, Errico F, Salvatore F, Pastore L, Usiello A. D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans. Transl Psychiatry;2022 (Aug 1);12(1):305.
The D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion. In these mice, we found reduced number of BrdU-positive dorsal pallium neurons during corticogenesis, and decreased cortical and striatal gray matter volume at adulthood. Brain abnormalities were associated with social recognition memory deficit at juvenile phase, suggesting that early D-aspartate occurrence influences neurodevelopmental related phenotypes. We corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire DDO gene.
Lien vers le texte intégral (Open Access ou abonnement)
19. Marta K, Justyna C, Marta S, Jerzy L, Justyna PB, Agnieszka BZ, Danuta O. Selected Methods of Therapeutic Interactions With People With Mild Symptoms of Autism Spectrum Disorder. Front Psychiatry;2022;13:942218.
In this review we present the behavioral aspects of interaction in people with autism spectrum disorders (ASD), taking into account some aspects of pharmacotherapy. In the treatment of people with ASD, an individual approach to emotional, social and cognitive functioning is very important. The specificity of symptoms and their severity in people with ASD results from deficits/disfunction of various areas of the brain and is associated with different levels of intelligence. This manuscript considers selected methods of interaction with ASD patients with normal IQ. Due to the different ways of functioning, these people often find it difficult to adapt to social expectations. The most important thing is to understand their perception of themselves and the world around them in order to support them in coping with the daily challenges. Due to the increasing problem, more and more attention is being focused on early detection of ASD, what allows to intervene as fast as possible and in consequence affect the quality of life of people with this dysfunctions. However, participants with mild autism symptoms are still difficult to diagnose in the practice. The effectiveness of the therapy depends largely on the cooperation of educational institutions. It is also necessary to contact specialist clinics, including a mental health counseling center. However, in the case of children and adolescents, the cooperation between the therapist and their parents is the basis. Systemic family therapy is also important in adults with ASD. An overview of the methods of therapeutic interactions in ASD, what may be helpful in diagnosing of mild ASD, were presented in our manuscript.
Lien vers le texte intégral (Open Access ou abonnement)
20. McGowan K, Berends D, Hudry K, Vivanti G, Dissanayake C, Bent CA. Brief report: bidirectional association of core autism features and cognitive abilities in early childhood. J Autism Dev Disord;2022 (Aug 2)
We explored associations among the core behavioural features and developmental/cognitive abilities of 155 autistic children, assessed between ages 13-67 months and again around 1-year later to understand predictive directionality. Bidirectional, cross-domain association was apparent, albeit with stronger direction of effect from earlier cognition to later autism features (than vice versa). Exploratory sub-domain analysis showed that early non-verbal developmental/cognitive abilities (only) predicted subsequent social- and restricted/repetitive autism features, whereas early social features (only) predicted both subsequent verbal and non-verbal abilities. Although observational study design precludes causal inference, these data support contemporary notions of the developmental interconnectedness of core autism presentation and associated abilities-that behavioural autism features may influence cognitive development, but are likely also influenced by an individuals’ cognitive capacity.
Lien vers le texte intégral (Open Access ou abonnement)
21. Mori H, Hirota T, Monden R, Takahashi M, Adachi M, Nakamura K. School Social Capital Mediates Associations Between ASD Traits and Depression Among Adolescents in General Population. J Autism Dev Disord;2022 (Aug 2)
Though autism spectrum disorder (ASD) traits are associated with depression, it is unclear if school social capital mediates their association. We examined whether school social capital mediates the association between ASD traits and depression, and moderation effect of sex on the mediation effect among adolescents in a general population sample (1750 males, 1779 females; equivalent 12-15 years old). The results of this study indicate that ASD traits are associated with depression among adolescents, and that this association is partly mediated by school social capital. Furthermore, the results of the moderated mediation analysis suggest that lower level of school social capital can lead to more increase level of depression for females than for males.
Lien vers le texte intégral (Open Access ou abonnement)
22. Ng-Cordell E, Rai A, Peracha H, Garfield T, Lankenau SE, Robins DL, Berkowitz SJ, Newschaffer C, Kerns CM. A Qualitative Study of Self and Caregiver Perspectives on How Autistic Individuals Cope With Trauma. Front Psychiatry;2022;13:825008.
BACKGROUND: Coping can moderate the relationship between trauma exposure and trauma symptoms. There are many conceptualisations of coping in the general population, but limited research has considered how autistic individuals cope, despite their above-average rates of traumatic exposure. OBJECTIVES: To describe the range of coping strategies autistic individuals use following traumatic events. METHODS: Fourteen autistic adults and 15 caregivers of autistic individuals, recruited via stratified purposive sampling, completed semi-structured interviews. Participants were asked to describe how they/their child attempted to cope with events they perceived as traumatic. Using an existing theoretical framework and reflexive thematic analysis, coping strategies were identified, described, and organized into themes. RESULTS: Coping strategies used by autistic individuals could be organized into 3 main themes: (1) Engaging with Trauma, (2) Disengaging from Trauma, and (3) Self-Regulatory Coping. After the three main themes were developed, a fourth integrative theme, Diagnostic Overshadowing, was created to capture participants’ reports of the overlap or confusion between coping and autism-related behaviors. CONCLUSIONS: Autistic individuals use many strategies to cope with trauma, many of which are traditionally recognized as coping, but some of which may be less easily recognized given their overlap with autism-related behaviors. Findings highlight considerations for conceptualizing coping in autism, including factors influencing how individuals cope with trauma, and how aspects of autism may shape or overlap with coping behavior. Research building on these findings may inform a more nuanced understanding of how autistic people respond to adversity, and how to support coping strategies that promote recovery from trauma.
Lien vers le texte intégral (Open Access ou abonnement)
23. Quinde-Zlibut J, Munshi A, Biswas G, Cascio CJ. Identifying and describing subtypes of spontaneous empathic facial expression production in autistic adults. J Neurodev Disord;2022 (Aug 1);14(1):43.
BACKGROUND: It is unclear whether atypical patterns of facial expression production metrics in autism reflect the dynamic and nuanced nature of facial expressions across people or a true diagnostic difference. Furthermore, the heterogeneity observed across autism symptomatology suggests a need for more adaptive and personalized social skills programs. Towards this goal, it would be useful to have a more concrete and empirical understanding of the different expressiveness profiles within the autistic population and how they differ from neurotypicals. METHODS: We used automated facial coding and an unsupervised clustering approach to limit inter-individual variability in facial expression production that may have otherwise obscured group differences in previous studies, allowing an « apples-to-apples » comparison between autistic and neurotypical adults. Specifically, we applied k-means clustering to identify subtypes of facial expressiveness in an autism group (N = 27) and a neurotypical control group (N = 57) separately. The two most stable clusters from these analyses were then further characterized and compared based on their expressiveness and emotive congruence to emotionally charged stimuli. RESULTS: Our main finding was that a subset of autistic adults in our sample show heightened spontaneous facial expressions irrespective of image valence. We did not find evidence for greater incongruous (i.e., inappropriate) facial expressions in autism. Finally, we found a negative trend between expressiveness and emotion recognition within the autism group. CONCLUSION: The results from our previous study on self-reported empathy and current expressivity findings point to a higher degree of facial expressions recruited for emotional resonance in autism that may not always be adaptive (e.g., experiencing similar emotional resonance regardless of valence). These findings also build on previous work indicating that facial expression intensity is not diminished in autism and suggest the need for intervention programs to focus on emotion recognition and social skills in the context of both negative and positive emotions.
Lien vers le texte intégral (Open Access ou abonnement)
24. Rivard M, Morin D, Coulombe P, Morin M, Mello C. The Diagnostic Period for Autism: Risk and Protective Factors for Family Quality of Life in Early Childhood. J Autism Dev Disord;2022 (Aug 2)
During the diagnostic evaluation period for autism or intellectual disability (ID), families of young children are at risk for poor adjustment. The present study aimed to document family quality of life (FQOL), along with associated risk and protective factors, during this critical step of families’ services trajectory. FQOL was measured in a large sample of families of children recently diagnosed with a neurodevelopmental disorder and examined in relation to the type of services received, children’s clinical profile, and family variables. FQOL was related to types of services, children’s challenging behavior, parenting stress, and several aspects of family composition and status. These findings highlight a need for mental health support for parents, coaching interventions for challenging behaviors, and family-centered supports.
Lien vers le texte intégral (Open Access ou abonnement)
25. Samanta P, Panigrahi A, Senapati LK, Mishra DP, Ravan JR, Mishra J. Maladaptive Behavior and Associated Factors among Young Children with Autism. Indian J Pediatr;2022 (Aug 2)
The present study assessed the prevalence of clinically significant maladaptive behaviors and associated factors among young male children diagnosed with autism. A cross-sectional study including mothers of 88 male children with autism aged 2 to 5 y old was conducted in the year 2019. Using the Child Behavior Checklist (CBCL), mothers rated their child’s maladaptive behaviors. CBCL overall scores in the clinically relevant range were found in 76 (86.4%) children with autism (87.5% and 42% children had clinically significant internalizing and externalizing problems, respectively). Withdrawn (94.3%), attention problems (60.2%), and sleep problems (53.4%) were the predominant CBCL syndrome scales. Sociodemographic factors like autism severity and caffeine consumption were found to be significantly associated with maladaptive behaviors. There is an urgent need for designing effective behavioral management strategies incorporating various risk factors to enhance the quality of life among these vulnerable children.
Lien vers le texte intégral (Open Access ou abonnement)
26. Tayanloo-Beik A, Hamidpour SK, Abedi M, Shojaei H, Tavirani MR, Namazi N, Larijani B, Arjmand B. Zebrafish Modeling of Autism Spectrum Disorders, Current Status and Future Prospective. Front Psychiatry;2022;13:911770.
Autism spectrum disorder (ASD) refers to a complicated range of childhood neurodevelopmental disorders which can occur via genetic or non-genetic factors. Clinically, ASD is associated with problems in relationships, social interactions, and behaviors that pose many challenges for children with ASD and their families. Due to the complexity, heterogeneity, and association of symptoms with some neuropsychiatric disorders such as ADHD, anxiety, and sleep disorders, clinical trials have not yielded reliable results and there still remain challenges in drug discovery and development pipeline for ASD patients. One of the main steps in promoting lead compounds to the suitable drug for commercialization is preclinical animal testing, in which the efficacy and toxicity of candidate drugs are examined in vivo. In recent years, zebrafish have been able to attract the attention of many researchers in the field of neurological disorders such as ASD due to their outstanding features. The presence of orthologous genes for ASD modeling, the anatomical similarities of parts of the brain, and similar neurotransmitter systems between zebrafish and humans are some of the main reasons why scientists draw attention to zebrafish as a prominent animal model in preclinical studies to discover highly effective treatment approaches for the ASD through genetic and non-genetic modeling methods.
Lien vers le texte intégral (Open Access ou abonnement)
27. Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Bléhaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M, Lepagnol-Bestel AM. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease. Life Sci Alliance;2022 (Dec);5(12)
Down syndrome (DS) is caused by human chromosome 21 (HSA21) trisomy. It is characterized by a poorly understood intellectual disability (ID). We studied two mouse models of DS, one with an extra copy of the Dyrk1A gene (189N3) and the other with an extra copy of the mouse Chr16 syntenic region (Dp(16)1Yey). RNA-seq analysis of the transcripts deregulated in the embryonic hippocampus revealed an enrichment in genes associated with chromatin for the 189N3 model, and synapses for the Dp(16)1Yey model. A large-scale yeast two-hybrid screen (82 different screens, including 72 HSA21 baits and 10 rebounds) of a human brain library containing at least 10(7) independent fragments identified 1,949 novel protein-protein interactions. The direct interactors of HSA21 baits and rebounds were significantly enriched in ID-related genes (P-value < 2.29 × 10(-8)). Proximity ligation assays showed that some of the proteins encoded by HSA21 were located at the dendritic spine postsynaptic density, in a protein network at the dendritic spine postsynapse. We located HSA21 DYRK1A and DSCAM, mutations of which increase the risk of autism spectrum disorder (ASD) 20-fold, in this postsynaptic network. We found that an intracellular domain of DSCAM bound either DLGs, which are multimeric scaffolds comprising receptors, ion channels and associated signaling proteins, or DYRK1A. The DYRK1A-DSCAM interaction domain is conserved in Drosophila and humans. The postsynaptic network was found to be enriched in proteins associated with ARC-related synaptic plasticity, ASD, and late-onset Alzheimer's disease. These results highlight links between DS and brain diseases with a complex genetic basis.
Lien vers le texte intégral (Open Access ou abonnement)
28. Wong OWH, Barzilay R, Lam AMW, Chan S, Calkins ME, Gur RE, Gur RC. Executive function as a generalized determinant of psychopathology and functional outcome in school-aged autism spectrum disorder: a case-control study. Psychol Med;2022 (Aug 1):1-11.
BACKGROUND: Individuals with autism spectrum disorder (ASD) are challenged not only by the defining features of social-communication deficits and restricted repetitive behaviors, but also by a myriad of psychopathology varying in severity. Different cognitive deficits underpin these psychopathologies, which could be subjected to intervention to alter the course of the disorder. Understanding domain-specific mediating effects of cognition is essential for developing targeted intervention strategies. However, the high degree of inter-correlation among different cognitive functions hinders elucidation of individual effects. METHODS: In the Philadelphia Neurodevelopmental Cohort, 218 individuals with ASD were matched with 872 non-ASD controls on sex, age, race, and socioeconomic status. Participants of this cohort were deeply and broadly phenotyped on neurocognitive abilities and dimensional psychopathology. Using structural equation modeling, inter-correlation among cognitive domains were adjusted before mediation analysis on outcomes of multi-domain psychopathology and functional level. RESULTS: While social cognition, complex cognition, and memory each had a unique pattern of mediating effect on psychopathology domains in ASD, none had significant effects on the functional level. In contrast, executive function was the only cognitive domain that exerted a generalized negative impact on every psychopathology domain (p factor, anxious-misery, psychosis, fear, and externalizing), as well as functional level. CONCLUSIONS: Executive function has a unique association with the severity of comorbid psychopathology in ASD, and could be a target of interventions. As executive dysfunction occurs variably in ASD, our result also supports the clinical utility of assessing executive function for prognostic purposes.
Lien vers le texte intégral (Open Access ou abonnement)
29. Yerys BE, McQuaid GA, Lee NR, Wallace GL. Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life. Autism;2022 (Aug 2):13623613221112198.
Outcomes for autistic adults are generally poor, including activities of daily living and self-ratings of quality of life. Co-occurring psychiatric conditions contribute to these poor outcomes. Attention-deficit/hyperactivity disorder is one of the most common co-occurring conditions in autistic individuals. However, we know little about the association between attention-deficit/hyperactivity disorder symptoms and outcomes in autistic adults. A total of 724 autistic adults (18-83 years; 58% female) recruited from the Simons Foundation Powering Autism Research participant registry completed questionnaires on demographics, co-occurring psychiatric conditions, activities of daily living, and subjective quality of life. Autistic adults who rated themselves as having more attention-deficit/hyperactivity disorder symptoms also rated themselves as having less independence in activities of daily living and a lower quality of life. This is the first study to show these relationships in autistic adults. These findings highlight that additional research and better supports for co-occurring attention-deficit/hyperactivity disorder symptoms may be critical to improving independence and quality of life for autistic adults.
Lien vers le texte intégral (Open Access ou abonnement)
30. Zhao F, Li N, Pan H, Chen X, Li Y, Zhang H, Mao N, Cheng D. Multi-View Feature Enhancement Based on Self-Attention Mechanism Graph Convolutional Network for Autism Spectrum Disorder Diagnosis. Front Hum Neurosci;2022;16:918969.
Functional connectivity (FC) network based on resting-state functional magnetic resonance imaging (rs-fMRI) has become an important tool to explore and understand the brain, which can provide objective basis for the diagnosis of neurodegenerative diseases, such as autism spectrum disorder (ASD). However, most functional connectivity (FC) networks only consider the unilateral features of nodes or edges, and the interaction between them is ignored. In fact, their integration can provide more comprehensive and crucial information in the diagnosis. To address this issue, a new multi-view brain network feature enhancement method based on self-attention mechanism graph convolutional network (SA-GCN) is proposed in this article, which can enhance node features through the connection relationship among different nodes, and then extract deep-seated and more discriminative features. Specifically, we first plug the pooling operation of self-attention mechanism into graph convolutional network (GCN), which can consider the node features and topology of graph network at the same time and then capture more discriminative features. In addition, the sample size is augmented by a « sliding window » strategy, which is beneficial to avoid overfitting and enhance the generalization ability. Furthermore, to fully explore the complex connection relationship among brain regions, we constructed the low-order functional graph network (Lo-FGN) and the high-order functional graph network (Ho-FGN) and enhance the features of the two functional graph networks (FGNs) based on SA-GCN. The experimental results on benchmark datasets show that: (1) SA-GCN can play a role in feature enhancement and can effectively extract more discriminative features, and (2) the integration of Lo-FGN and Ho-FGN can achieve the best ASD classification accuracy (79.9%), which reveals the information complementarity between them.
Lien vers le texte intégral (Open Access ou abonnement)
31. Zhao Z, Wei J, Xing J, Zhang X, Qu X, Hu X, Lu J. Use of Oculomotor Behavior to Classify Children with Autism and Typical Development: A Novel Implementation of the Machine Learning Approach. J Autism Dev Disord;2022 (Aug 1)
This study segmented the time series of gaze behavior from nineteen children with autism spectrum disorder (ASD) and 20 children with typical development in a face-to-face conversation. A machine learning approach showed that behavior segments produced by these two groups of participants could be classified with the highest accuracy of 74.15%. These results were further used to classify children using a threshold classifier. A maximum classification accuracy of 87.18% was achieved, under the condition that a participant was considered as ‘ASD’ if over 46% of the child’s 7-s behavior segments were classified as ASD-like behaviors. The idea of combining the behavior segmentation technique and the threshold classifier could maximally preserve participants’ data, and promote the automatic screening of ASD.