1. Abdolmaleky HM, Zhou JR, Thiagalingam S. Cataloging recent advances in epigenetic alterations in major mental disorders and autism. Epigenomics. 2021; 13(15): 1231-45.

During the last two decades, diverse epigenetic modifications including DNA methylation, histone modifications, RNA editing and miRNA dysregulation have been associated with psychiatric disorders. A few years ago, in a review we outlined the most common epigenetic alterations in major psychiatric disorders (e.g., aberrant DNA methylation of DTNBP1, HTR2A, RELN, MB-COMT and PPP3CC, and increased expression of miR-34a and miR-181b). Recent follow-up studies have uncovered other DNA methylation aberrations affecting several genes in mental disorders, in addition to dysregulation of many miRNAs. Here, we provide an update on new epigenetic findings and highlight potential origin of the diversity and inconsistencies, focusing on drug effects, tissue/cell specificity of epigenetic landscape and discuss shortcomings of the current diagnostic criteria in mental disorders.

Lien vers le texte intégral (Open Access ou abonnement)

2. Cebeci AN, Kutlu F, Ekici B. A Rare Cause of Autistic Regression in a Boy with Down Syndrome: Hashimoto Encephalopathy. Journal of pediatric neurosciences. 2021; 16(1): 65-8.

BACKGROUND: Hashimoto encephalopathy (HE) is a rare condition associated with autoimmune thyroid disease. We aimed to report the youngest patient with Down syndrome and HE with an unusual presentation. CASE REPORT: Six years and six months old boy with Down syndrome admitted due to loss of speech. His physical development was appropriate for his age and had no goiter. Neurological examination revealed the absence of eye contact and stereotypic movements. Autism spectrum disorder was considered based on his result on Gilliam autism evaluation scale. He had subclinical hypothyroidism with markedly elevated anti-thyroid peroxidase antibody level, rare spikes in the frontocentral area were found in electroencephalography, and cranial magnetic resonance imaging was normal. Neurologic improvement was observed to a treatment with glucocorticoid and thyroid hormone. CONCLUSION: HE might be considered in patients with Down syndrome along with progressive cognitive decline and autistic regression.

Lien vers le texte intégral (Open Access ou abonnement)

3. Chen MH, Pan TL, Bai YM, Huang KL, Tsai SJ, Su TP, Chen TJ, Hsu JW. Postpartum Depression and Psychosis and Subsequent Severe Mental Illnesses in Mothers and Neurodevelopmental Disorders in Children: A Nationwide Study. The Journal of clinical psychiatry. 2021; 82(4).

Background: The association between postpartum depression and postpartum psychosis and subsequent maternal and offspring mental disorders in Western countries has been established; however, whether the relationship can be generalized to the Asian population is unknown. Methods: Using the Taiwan National Health Insurance Research Database, this study enrolled 933,745 mother-infant pairs who delivered their first child and had no history of severe mental illness before childbirth from 2001 to 2010. Postpartum depression and postpartum psychosis were assessed in 3 periods between childbirth and 3, 6, or 12 months after childbirth. Subsequent maternal schizophrenia (ICD-9-CM code: 295), bipolar disorder (ICD-9-CM code: 296 except 296.2x, 296.3x, 296.9x, and 296.82), and depressive disorder (ICD-9-CM codes: 296.2x, 296.3x, 300.4, and 311) and offspring autism spectrum disorder (ASD; ICD-9-CM code: 299) and attention-deficit/hyperactivity disorder (ADHD; ICD-9-CM code: 314) were identified during the follow-up period to the end of 2011. Results: Both postpartum depression and postpartum psychosis were found to be related to increased risks of schizophrenia, bipolar disorder, and depressive disorder in mothers, with hazard ratios (HRs) ranging between 8.80 (95% CI, 7.95-9.74) and 63.96 (95% CI, 50.39-81.18). Children exposed to maternal postpartum depression and psychosis were more likely to develop ADHD. Only postpartum depression was related to the likelihood of offspring ASD. Conclusions: Per these findings, we clinicians and health care providers should closely monitor the mental health condition of postpartum women and their children.

Lien vers le texte intégral (Open Access ou abonnement)

4. Doherty M, Johnson M, Buckley C. Supporting autistic doctors in primary care: challenging the myths and misconceptions. The British journal of general practice : the journal of the Royal College of General Practitioners. 2021; 71(708): 294-5.

Lien vers le texte intégral (Open Access ou abonnement)

5. Golan O, Haruvi-Lamdan N, Laor N, Horesh D. The comorbidity between autism spectrum disorder and post-traumatic stress disorder is mediated by brooding rumination. Autism : the international journal of research and practice. 2022; 26(2): 538-44.

Autism spectrum disorder is a neurodevelopmental condition characterized by social communication difficulties and restricted repetitive behaviors. Individuals with autism spectrum disorder are often diagnosed with other psychiatric conditions, including attention deficit hyperactivity disorder, anxiety, and depression. However, research on post-traumatic stress disorder among individuals with autism spectrum disorder is scarce. Nonetheless, studies have shown that those with autism spectrum disorder may face an increased risk of exposure to traumatic events. Separate lines of research in autism spectrum disorder and post-traumatic stress disorder have shown that the two may share several vulnerability factors. One of those is ruminative thinking, that is, one’s tendency to re-hash thoughts and ideas, in a repetitive manner. This article examined the role of two rumination types as potential factors connecting autism spectrum disorder and post-traumatic stress disorder: brooding (continuously comparing one’s current condition to one’s desired condition) and reflection (an introspective effort to cognitively solve one’s problems). A total of 34 adults with autism spectrum disorder (with no intellectual impairment) and 66 typically developing adults completed questionnaires assessing post-traumatic stress disorder symptoms and rumination. The results showed increased post-traumatic stress disorder symptoms in adults with autism spectrum disorder, compared to typically developing adults. Brooding rumination was also higher among those with autism spectrum disorder. Finally, brooding, but not reflection, served as a mechanism connecting autism spectrum disorder and post-traumatic stress disorder, that is, those with autism spectrum disorder showed increased brooding, which in turn predicted more post-traumatic stress disorder symptoms. This study has potential clinical implications. Rumination and cognitive inflexibility, which are common in autism spectrum disorder, could exacerbate post-traumatic symptoms among individuals with autism spectrum disorder who experience traumatic events. Interventions targeting brooding rumination and cognitive flexibility may assist in alleviating post-traumatic symptoms in individuals with autism spectrum disorder.

Lien vers le texte intégral (Open Access ou abonnement)

6. Li S, Guo Z, Ioffe JB, Hu Y, Zhen Y, Zhou X. Text mining of gene-phenotype associations reveals new phenotypic profiles of autism-associated genes. Scientific reports. 2021; 11(1): 15269.

Autism is a spectrum disorder with wide variation in type and severity of symptoms. Understanding gene-phenotype associations is vital to unravel the disease mechanisms and advance its diagnosis and treatment. To date, several databases have stored a large portion of gene-phenotype associations which are mainly obtained from genetic experiments. However, a large proportion of gene-phenotype associations are still buried in the autism-related literature and there are limited resources to investigate autism-associated gene-phenotype associations. Given the abundance of the autism-related literature, we were thus motivated to develop Autism_genepheno, a text mining pipeline to identify sentence-level mentions of autism-associated genes and phenotypes in literature through natural language processing methods. We have generated a comprehensive database of gene-phenotype associations in the last five years’ autism-related literature that can be easily updated as new literature becomes available. We have evaluated our pipeline through several different approaches, and we are able to rank and select top autism-associated genes through their unique and wide spectrum of phenotypic profiles, which could provide a unique resource for the diagnosis and treatment of autism. The data resources and the Autism_genpheno pipeline are available at: https://github.com/maiziezhoulab/Autism_genepheno .

Lien vers le texte intégral (Open Access ou abonnement)

7. Lim A, Brewer N, Young RL. Revisiting the Relationship between Cybercrime, Autistic Traits, and Autism. Journal of autism and developmental disorders. 2021.

Reports of cybercrime being committed by people on the autism spectrum often imply that autism may be more prevalent among cybercriminals than the general population, although this remains unproven. In an online survey of 302 participants, we found that autistic individuals (n = 25) were more likely to report engagement in cybercrime than non-autistic individuals, but this relationship was not mediated by advanced digital skills or deficits in theory of mind. Furthermore, independent of autism diagnosis, autistic traits were not significantly associated with self-reported cyber-criminality. We propose that there may be additional factors moderating the relationship between autism, autistic traits, and cybercrime, such as specific autistic characteristics, understanding of cybercrime, and willingness to disclose criminal activity.

Lien vers le texte intégral (Open Access ou abonnement)

8. McKernan EP, Kim SH. School-entry language skills as predictors of concurrent and future academic, social, and adaptive skills in kindergarteners with ASD. The Clinical neuropsychologist. 2021: 1-22.

OBJECTIVE: This study compared language profiles of children with autism spectrum disorder (ASD) and typically developing (TD) children at kindergarten-entry and investigated whether kindergarten-entry language scores were predictive of concurrent and future academic achievement, peer interactions, and adaptive skills in children with ASD. METHOD: Participants included 97 children (62 children with ASD; 35 TD children) assessed at kindergarten-entry and -exit. Language abilities were assessed using the Children’s Communication Checklist-2 (CCC-2). Children with ASD and TD children’s language scores were compared at baseline, and the ASD group was followed longitudinally. Regression analyses were performed to compare language scores between ASD and TD groups and to predict concurrent and future functional skills from kindergarten-entry language scores for children with ASD. RESULTS: Children with ASD demonstrated significantly more impairments across all scales of the CCC-2 at kindergarten-entry compared to TD children. Within the ASD group, kindergarten-entry pragmatic language significantly predicted concurrent math and reading achievement. Both syntactic/semantic and pragmatic domains significantly predicted kindergarten-exit reading performance; pragmatics significantly predicted kindergarten-exit math performance. Pragmatics also predicted concurrent and kindergarten-exit peer play. Syntax/semantics significantly predicted concurrent adaptive communication skills, whereas pragmatics significantly predicted concurrent adaptive daily living and socialization skills, as well as kindergarten-exit socialization skills. CONCLUSIONS: School-entry language abilities can serve as a valuable predictor of functional outcomes across the kindergarten year for cognitively-able children with ASD. Results highlight the need to target early language abilities to maximize academic, social, and adaptive skills.

Lien vers le texte intégral (Open Access ou abonnement)

9. Petursdottir AL, Gudmundsdottir T. Supporting Social Play Skill Acquisition and Generalization of Children with Autism Through Video Modeling. Journal of autism and developmental disorders. 2021.

This study assessed the effects of portable video modeling on social interactions of four children with autism, three boys and one girl, 4- to 5-year-olds, in preschools in Iceland. Participants were shown 1-min videos on a small handheld device where a peer model initiated social interactions and played with two peers. A multiple-probe-across-participants design showed that video modeling reduced latency to social initiation and increased reciprocal play and language use per 5-min play sessions. Improvements generalized to other peers, a larger group, and to the main classroom and were maintained post intervention. These preliminary findings suggest that video modeling with a handheld device could support the acquisition and generalization of social play of preschool children with autism in natural settings.

Lien vers le texte intégral (Open Access ou abonnement)

10. Pi HJ, Kallapiran K, Munivenkatappa S, Kandasamy P, Kirubakaran R, Russell P, Eapen V. Meta-Analysis of RCTs of Technology-Assisted Parent-Mediated Interventions for Children with ASD. Journal of autism and developmental disorders. 2021.

Technology-assisted parent-mediated interventions improve accessibility and are acceptable but not proven to be effective. We conducted a systematic search of 6 databases. We included and analysed results from studies on social and communication outcomes. Sixteen Randomised-Controlled-Trials (RCTs) with 748 participants were included. Most studies were rated as of good quality. Meta-analysis suggested that interventions were probably effective in improving emotion recognition. No significant differences were found in social communication, social functioning or language outcomes. At present, isolated tech interventions do not fulfil criteria for promising or established evidence-based interventions for ASD. Future research needs to focus on improving the effectiveness of technology-assisted parent-mediated interventions for ASD. Prospero Registration Number: CRD42020162825.

Lien vers le texte intégral (Open Access ou abonnement)

11. Rajaraman K, Mundkur N. Parent-mediated Training for Children with Autism Spectrum Disorder in India. Indian pediatrics. 2021; 58(7): 692.

Lien vers le texte intégral (Open Access ou abonnement)

12. Ruble L, McGrew J, Dale B, Yee M. Goal Attainment Scaling: An Idiographic Measure Sensitive to Parent and Teacher Report of IEP Goal Outcome Assessment for Students with ASD. Journal of autism and developmental disorders. 2021.

Young students with ASD have instructional needs in social, communication, and learning skills that should be reflected in their Individualized Education Program (IEP). Research suggests that many of these goal areas present a challenge for special educators because of problems with measurability. The current study utilized an idiographic approach called Goal attainment scaling (GAS) for measuring IEP progress of individualized skills. Cross-sectional analysis of the associations between GAS ratings from an independent observer were correlated against teacher and parent ratings of IEP progress at the end of the school year and with standardized measures of the Behavior Assessment System for Children and Vineland Adaptive Behavior Scales (VABS). GAS scores were associated with parent and teacher ratings, including the VABS.

Lien vers le texte intégral (Open Access ou abonnement)

13. Vakadkar K, Purkayastha D, Krishnan D. Detection of Autism Spectrum Disorder in Children Using Machine Learning Techniques. SN computer science. 2021; 2(5): 386.

Autism Spectrum Disorder (ASD) is a neurological disorder which might have a lifelong impact on the language learning, speech, cognitive, and social skills of an individual. Its symptoms usually show up in the developmental stages, i.e., within the first two years after birth, and it impacts around 1% of the population globally [https://www.autism-society.org/whatis/facts-and-statistics/. Accessed 25 Dec 2019]. ASD is mainly caused by genetics or by environmental factors; however, its conditions can be improved by detecting and treating it at earlier stages. In the current times, clinical standardized tests are the only methods which are being used, to diagnose ASD. This not only requires prolonged diagnostic time but also faces a steep increase in medical costs. To improve the precision and time required for diagnosis, machine learning techniques are being used to complement the conventional methods. We have applied models such as Support Vector Machines (SVM), Random Forest Classifier (RFC), Naïve Bayes (NB), Logistic Regression (LR), and KNN to our dataset and constructed predictive models based on the outcome. The main objective of our paper is to thus determine if the child is susceptible to ASD in its nascent stages, which would help streamline the diagnosis process. Based on our results, Logistic Regression gives the highest accuracy for our selected dataset.

Lien vers le texte intégral (Open Access ou abonnement)

14. Wodka EL, Parish-Morris J, Annett RD, Carpenter L, Dillon E, Michaelson J, Kim SH, Landa R, Kanne S. Co-occurring attention-deficit/hyperactivity disorder and anxiety disorders differentially affect males and females with autism. The Clinical neuropsychologist. 2021: 1-25.

OBJECTIVE: To examine overlap and divergence of symptomatology in Autism Spectrum Disorder (ASD) with and without co-occurring Attention/Deficit Hyperactivity Disorder (ADHD) and/or Anxiety Disorder by age and sex. METHOD: Participants included 25,078 individuals registered in the SPARK cohort, age 6-18 years. SPARK participation includes online consent and registration, as well as parent-reported ASD, ADHD, and Anxiety Disorder diagnoses, developmental, medical, and intervention history, and standardized rating scales. Individuals with ASD, ASD + ADHD, ASD + Anxiety, or ASD + ADHD + Anxiety were compared on measures assessing social communication, restricted and repetitive behaviors (RRBs), and motor functioning, and differences between male and female profiles were examined. RESULTS: Significant differences in symptom presentation between females/males, school-age/adolescent individuals, and by co-occurring conditions (ASD/ADHD/Anxiety) are apparent, and the impact of co-occurring conditions differed by age and sex. Most notably, school-age femaleswith ASD without co-occurring conditions present with significantly fewer concerns about social communication skills and have better motor skills, but have more prominent RRBs as compared to same-aged males with ASD alone; co-occurring conditions were associated with increased social communication problems and motor concerns, most consistently for school-age females. CONCLUSIONS: School-age females with ASD are at highest risk for underestimation of autism-related symptoms, including underestimation of symptoms beyond core ASD features (motor skills). Further, across ages, particular consideration should be given when probing for social communication symptoms, RRBs, and motor skills in females with ASD alone, as well as with co-occurring ADHD and/or Anxiety. For females with co-occurring symptoms and conditions, use of symptom-specific measures in lieu of omnibus measures should be considered.

Lien vers le texte intégral (Open Access ou abonnement)

15. Zhou L, Wang J, Huang J. Brief Report: Health Expenditures for Children with Autism and Family Financial Well-Being in China. Journal of autism and developmental disorders. 2021.

Little is known on the financial well-being of families raising children with autism spectrum disorders (ASD). Family financial well-being has important impacts on the development of children with ASD. The study uses a 2019 survey collected from Chinese families raising a child with ASD (N = 3064) to examine their financial well-being and its association with health expenditures for children. Extensive control variables (i.e., demographic and socioeconomic characteristics of children, respondents, and their families) are adjusted in analyses. Findings suggest that the amount of health expenditures is negatively associated with respondents’ perception of their financial status. The significance of health expenditures disappears after household material hardship is adjusted. Health expenditures affect financial well-being mainly through resource competitions against family needs.

Lien vers le texte intégral (Open Access ou abonnement)