Pubmed du 29/04/22
1. Ashmawi NS, Hammoda MA. Early Prediction and Evaluation of Risk of Autism Spectrum Disorders. Cureus. 2022; 14(3): e23465.
Autism is a neuro-developmental condition that first appears at less than three years of age. Autism spectrum disorders (ASD) include several symptoms, such as social communication impairment, stereotyping behaviors, speech abnormalities, and impairment of eye contact. Its prevalence has increased recently, and several factors play a role in increasing the risk of autism. Multiple studies and research explain the factors affecting the rate of autism, and in this article, we will review most of these factors. The aim of this review article is to increase awareness of the problem of autism and provide scientifically relevant information about the etiology, pathogenesis, risk factors, and management of ASD. Our perception of autism has evolved over time. A few years ago, the condition was nothing more than an unrecognized developmental delay, generally with intellectual disabilities. Today, it is recognized as a major public health issue and a topic of much research. Researchers have struggled to find a cause for ASD, and numerous treatments have been developed to maximize the potential to learn and become socially fluent, no matter how strong the impairments may be. Although there is no cure, there have been significant strides in identifying and developing treatments. Early prediction of autism is beneficial in an individual’s treatment, which can be carried out by recognizing the risk factors of infants, thus leading to improved outcomes or even a complete cure. The prevalence of ASD has increased, and earlier prediction leads to the best outcomes.
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2. Bejerot S, Nylander L. An overestimation of the prevalence of ASD among psychiatric patients. Journal of autism and developmental disorders. 2022.
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3. Biswas M, Vanwong N, Sukasem C. Pharmacogenomics in clinical practice to prevent risperidone-induced hyperprolactinemia in autism spectrum disorder. Pharmacogenomics. 2022.
Autism spectrum disorder (ASD) is a global challenge that may disrupts family and social life significantly. There is robust evidence for the association of a pharmacokinetic gene variant (e.g., CYP2D6) with risperidone-induced hyperprolactinemia in ASD. Association of a pharmacodynamic gene variant (e.g., DRD2) with risperidone-induced hyperprolactinemia in ASD is also evident from multiple studies. In addition to genetic factors, dose, duration and drug-drug interactions of risperidone might also increase the serum prolactin level. There are several difficulties, such as reimbursement, knowledge and education of healthcare providers, in implementing risperidone pharmacogenomics into clinical practice. However, preparation of national and international pharmacogenomics-based dosing guidelines of risperidone may advance precision medicine of ASD.
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4. Chen YJ, Strodl E, Hou XY, Wu CA, Chen JY, Huang LH, Yin XN, Wen GM, Sun DL, Xian DX, Yang GY, Chen WQ. Parent-child interactions in early life mediating association between prenatal maternal stress and autistic-like behaviors among preschoolers. Psychology, health & medicine. 2022: 1-13.
A range of studies have shown that prenatal maternal stress (PNMS) exposure is associated with offspring autistic-like behaviors, however the potential pathways remain unexplored. This study aimed to evaluate the mediating role of parent-child interactions in early life in the association between PNMS exposure and preschoolers’ autistic-like behaviors. Data from 65,928 child-parent dyads were obtained via a primary caregiver-reported questionnaire administered as part of the Longhua Child Cohort Study. To strengthen confidence in the reliability of the results, the analyses were initially conducted on a random selection of 70% of the total sample, and then validated on the remaining 30% of the sample. Analysis of covariance and multiple linear models were employed to estimate the associations between PNMS exposure, parent-child interactions in early life, and children’s autistic-like behaviors. The results showed that PNMS exposure was positively associated with the presence of autistic-like behaviors at preschool age. The total indirect effect of the frequency of positive parent-child interactions in early life accounted for 9.69% or 8.99% of the variance of the association. Our findings indicate that parent-child interactions in early life might function as potential mediators of the association between PNMS and the increased risk of offspring autistic-like behaviors.
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5. Davico C, Marcotulli D, Cudia VF, Arletti L, Ghiggia A, Svevi B, Faraoni C, Amianto F, Ricci F, Vitiello B. Emotional Dysregulation and Adaptive Functioning in Preschoolers With Autism Spectrum Disorder or Other Neurodevelopmental Disorders. Frontiers in psychiatry. 2022; 13: 846146.
AIM: Emotional dysregulation (ED), defined by deficits in the ability to monitor and modulate the valence, intensity, and expression of emotions, is typically expressed with irritability, tantrums, mood fluctuations, and self-harm in young children with autism spectrum disorder (ASD). Although ED does not represent a diagnostic feature of ASD, its manifestations are an important contributor to functional impairment and clinical referral. This study aims to examine the relationship between ED and adaptive functioning in preschoolers clinically referred for ASD or other neurodevelopmental disorders. METHODS: A sample of 100 children (74% males, mean age 39.4 ± 12.3 months), consecutively referred to a university clinic for neurodevelopmental disorders, received clinical assessments of psychopathology with the CBCL and the Autism Diagnostic Interview-Revised, of ED- with the CBCL-Attention, Anxious/Depressed, and Aggression index (CBCL-AAA), of autism symptom severity with the ADOS-2 Calibrated Severity Score (ADOS-CSS), and of global developmental/cognitive delay (GDD) with the WPPSI-IV or other age-appropriate standardized scales. Adaptive functioning was measured with the ABAS-II. Sixty-five children met DSM-5 criteria for ASD. Multivariate regression models were applied to evaluate the relative contribution of ED, ASD severity and GDD to the ABAS-II general (GAC), conceptual (CAD), social (SAD), and practical (PAD) adaptive functioning domains. RESULTS: Overall (n = 100), lower adaptive functioning was associated with higher CBCL-AAA (p = 0.003), higher ADOS-CSS (p < 0.001), and presence of GDD (p = 0.023). In the ASD group (n = 65), worse CAD was predicted by GDD (p = 0.016), and worse SAD and PAD by higher ADOS-CSS (p = 0.032) and ED (p = 0.002). No sex differences were detected in the study variables. CONCLUSION: Together with the severity of global developmental delay and of autism symptoms, ED is a significant contributor to impairment in adaptive functioning among young children with a neurodevelopmental disorder and, in particular, with ASD. ED could represent a specific target for early interventions aimed at enhancing adaptive functioning in early childhood.
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6. Edmunds SR, MacNaughton GA, Rueda MR, Combita LM, Faja S. Beyond group differences: Exploring the preliminary signals of target engagement of an executive function training for autistic children. Autism research : official journal of the International Society for Autism Research. 2022.
Understanding both for whom and how interventions work is a crucial next step in providing personalized care to children with autism spectrum disorder (ASD). Autistic children present with heterogeneity both within core ASD criteria and with respect to co-occurring mental health challenges, which may affect their ability to benefit from intervention. In a secondary data analysis of a randomized control trial evaluating an executive function (EF) training with 70 7- to 11-year-old autistic children, we explored: (1) whether co-occurring attention-deficit/hyperactivity disorder (ADHD) features or anxiety features at baseline moderated the extent to which children benefited from the EF training. In other words, we asked, « For whom is training effective? » We also explored: (2) the extent to which changes in a brain-based measure of target engagement predicted the clinical outcomes of the EF training. This is a step towards asking, « How is training effective? » We found that EF training improved behavioral inhibition only for children with clinically significant co-occurring ADHD features. Anxiety features, while prevalent, did not moderate EF training efficacy. Finally, for the EF training group only, there was a significant correlation between pre-to-post change in an EEG-based measure of target engagement, N2 incongruent amplitude during a flanker task, and change in repetitive behaviors, a behavioral outcome that was reported in the parent RCT to have improved with training compared to waitlist control. This study provides preliminary evidence that EF training may differentially affect subgroups of autistic children and that changes at the neural level may precede changes in behavior. LAY SUMMARY: Understanding both for whom and how interventions work will help us provide personalized care to children with autism spectrum disorder (ASD). Autistic children present with many different strengths and challenges. Co-occurring mental health challenges may affect how much autistic children benefit from intervention. We analyzed secondary data from a rigorously designed pilot intervention study, a randomized control trial (RCT), that enrolled 70 7- to 11-year-old autistic children to assess whether a set of computer-based executive function (EF) training games improved their performance. Executive functions include being able to shift between tasks, inhibit a response, and keep information in working memory. In the current study, we explored: (1) whether children’s co-occurring attention-deficit/hyperactivity disorder (ADHD) features or anxiety features, measured before the EF training began, affected how much they benefited from the EF training. In other words, we asked, « For whom is training effective? » We also explored: (2) whether children’s brain-based changes in EF predicted their performance in everyday life (e.g., parent report on a survey). This is a step toward asking, « How is training effective? » We found that EF training improved children’s inhibition ability, but only for children with clinically significant ADHD features. While many children in our sample also had anxiety features, we found that anxiety levels did not affect how well the EF training worked. Finally, for children who received the EF training, changes in a brain-based measure of conflict monitoring (i.e., being able to noticing differences in stimuli) predicted changes in children’s repetitive behaviors. This study provides early evidence that EF training may be more effective for some autistic children than others, especially those with ADHD features.
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7. Espenhahn S, Godfrey KJ, Kaur S, McMorris C, Murias K, Tommerdahl M, Bray S, Harris AD. Atypical Tactile Perception in Early Childhood Autism. Journal of autism and developmental disorders. 2022.
We assessed different aspects of tactile perception in young children (3-6 years) with autism. Autistic and neurotypical children completed vibrotactile tasks assessing reaction time, amplitude discrimination (sequential and simultaneous) and temporal discrimination (temporal order judgment and duration discrimination). Autistic children had elevated and more variable reaction times, suggesting slower perceptual-motor processing speed and/or greater distractibility. Children with autism also showed higher amplitude discrimination and temporal order judgement thresholds compared to neurotypical children. Tactile perceptual metrics did not associate with social or tactile sensitivities measured by parent-reports. Altered tactile behavioral responses appear in early childhood, can be quantified but appear dissociated from sensitivity. This implies these measures are complementary, but not necessarily related, phenomena of atypical tactile perception in autism.
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8. Ly A, Heron J, Rai D, Wright C. Autism, autistic traits and multiple risk behaviours in adolescence: a longitudinal birth cohort study. Psychological medicine. 2022: 1-10.
BACKGROUND: Multiple risk behaviours (MRBs), typically beginning in adolescence, are associated with increased risk of adverse health and social outcomes. The association between autism and MRBs is little understood. METHODS: Data were from the Avon Longitudinal Study of Parents and Children, an UK-based longitudinal, birth cohort study. Exposures were diagnosed autism and four autistic traits: social communication difficulties, pragmatic language, repetitive behaviours and reduced sociability. Outcomes were participation in up to 14 risk behaviours, including alcohol consumption, smoking, risky sexual behaviours and physical inactivity. Outcome data were collected at ages approximately 12, 14, 16 and 18. RESULTS: Up to 4300 participants were included in latent basis growth curve analyses with adjustment for confounders. Social communication difficulties were associated with an above average level of MRBs engagement at ~12 years (mean difference β 0.26; 95% CI 0.13-0.40), and above average rate of engagement from ages ~12-18 (β 0.08; 95% CI 0.02-0.13). Repetitive behaviours were associated with above average levels of engagement in MRBs at ~12 years (β 0.24; 95% CI 0.09-0.38). Contrastingly, reduced sociability was associated with a reduced rate of engagement in MRBs from ages ~12-18 (β -0.06; 95% CI -0.11 to -0.02). In sex-specific analyses, persisting differences in MRB engagement patterns from ages ~12-18 were observed in males with social communication difficulties and females with reduced sociability temperament. CONCLUSIONS: Having elevated levels of some autistic traits appear to have differentiated effects on MRB engagement patterns. These findings could reflect difficulties fitting in and/or coping mechanisms relating to difficulties with fitting in.
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9. Nakaoka K, Tanba H, Yuri T, Tateyama K, Kurasawa S. Convergent validity of the Autism Spectrum Disorder Mealtime Behavior Questionnaire (ASD-MBQ) for children with autism spectrum disorder. PloS one. 2022; 17(4): e0267181.
There was a growing interest in difficulties with eating as one of the most problematic symptoms in children with autism spectrum disorder (ASD). The purpose of this study is to examine the convergent validity of the Autism Spectrum Disorder Mealtime Behavior Questionnaire (ASD-MBQ) with the Asahide’s test for social adjustment skills, the Japanese version of the short version of the sensory profile questionnaire, the Japanese version of the Social Communication Questionnaire, and the Parenting Strain Index in Japanese children with ASD. The final sample contained 294 children who were diagnosed as the ASD based on the DSM-5 criteria, the mean age of children was 10 ± 4 years (range: 3-18 years). The ASD-MBQ is a questionnaire that comprised of 42 items that are classified into five subdomains: selective eating, clumsiness/manners, interest in/concentration on eating, oral-motor function, and overeating. Spearman’s rank correlation coefficient revealed that the ASD-MBQ showed the moderate to high correlation coefficient with all four external criteria. Our results in this study supported the sufficient convergent validity in the ASD-MBQ. Therefore, the ASD-MBQ could be a useful tool for research and practice in a wide range of children with ASD aged 3 to 18.
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10. Rodocanachi Roidi ML, Cozzi F, Isaias IU, Grange F, Ferrari EP, Ripamonti E. Clinical and genetic correlations of scoliosis in Rett syndrome. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society. 2022.
AIM: To identify the clinical features correlating with the presence and severity of scoliosis in girls with Rett syndrome (RTT). METHOD: Seventy-five girls with a clinical and genetically determined diagnosis of RTT participated in this cross-sectional study. Clinical scales administered included the Rett assessment rating scale, the modified Ashworth scale, the Rett syndrome motor evaluation scale, the PainAD, and the scale of evaluation of purposeful hand function. Multivariable analyses, such as ordinal logistic regression and ANCOVA, were used to assess the correlation between these scales and a clinical score of scoliosis. RESULTS: About 60% of patients had scoliosis, in general mild or moderate. The severity of scoliosis correlated with age and important neurological factors such as muscular hypertonus and hyperreflexia, standing, walking (level walking and on stairs), and postural transitions. No association was found with global disease severity, hand function, pain, or type of genetic mutation. INTERPRETATION: Scoliosis is a relevant problem in RTT. It should be carefully monitored along the life span, especially in conjunction with (loco-)motor impairment in these patients.
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11. Saure E, Ålgars M, Laasonen M, Raevuori A. Cognitive Behavioral and Cognitive Remediation Strategies for Managing Co-Occurring Anorexia Nervosa and Elevated Autism Spectrum Traits. Psychology research and behavior management. 2022; 15: 1005-16.
Anorexia nervosa (AN) is a potentially severe eating disorder whose core characteristics include energy intake restriction leading to low body weight. Autism spectrum disorder (ASD) is a developmental disorder characterized by deficits in social interaction and communication as well as repetitive, stereotyped behavior and interests. Both high ASD traits and diagnosed ASD are overrepresented among individuals with AN, and AN and ASD appear to share certain neurocognitive features. These features are associated with the severity of eating disorder symptoms and prolongation of AN. Thus, individuals with AN and high ASD traits or ASD may benefit less from traditional treatment when compared to those with low ASD traits. No previous reviews have summarized what is known about treatment adaptations for individuals with AN and high ASD traits or ASD. The purpose of this narrative review was to investigate the feasibility of cognitive remediation therapy (CRT), cognitive remediation and emotional skill training (CREST), and cognitive behavioral therapy (CBT), and give an overview of treatment modifications for individuals with AN and co-occurring ASD or high ASD traits. We found nine studies that fulfilled our inclusion criteria. The combined results suggest that individuals with AN and high ASD traits or ASD benefit less from CRT, CREST, and CBT than those with AN and low ASD traits. However, CRT and CREST administered in individual format may be associated with improved cognitive flexibility, motivation for change, and decreased alexithymia among adults with AN and high ASD traits or ASD. Individuals with comorbid AN and ASD themselves highlight the importance of treatment adaptations that take the characteristics of ASD into account. In the future, controlled studies of the treatment strategies for individuals with AN and ASD/high ASD traits are needed in order to improve the outcome of individuals with this challenging comorbidity.
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12. Shea LL, Becker A, Lee BK, Miller KK, Cooper D, Anderson K, Salzer MS, Vanness DJ. Self-reported COVID-19 vaccination acceptance and hesitancy among autistic adults. Vaccine. 2022.
Identifying factors associated with COVID-19 vaccination acceptance among vulnerable groups, including autistic individuals, can increase vaccination rates and support public health. The purpose of this study was to determine differences among autistic adults who reported COVID-19 vaccination acceptance from those who did not. In this study we describe COVID-19 vaccination status and self-reported preferences among autistic adults and identify related factors. Vaccine accepters were more likely to report increased loneliness during COVID-19, lived in more populous counties (p = 0.02), and lived in counties won by President Biden in the 2020 US presidential election (p < 0.001). Positive correlations were found between desire to protect others, concern about contracting COVID-19, and trusting vaccine safety (p < 0.001). Concern about vaccine safety was common among the vaccine hesitant, while lack of concern about COVID-19 overall was not. Identifying health promotion strategies based on self-reported, lived experiences about COVID-19 among vulnerable groups is key for public health impact.
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13. Widnall E, Epstein S, Polling C, Velupillai S, Jewell A, Dutta R, Simonoff E, Stewart R, Gilbert R, Ford T, Hotopf M, Hayes RD, Downs J. Autism spectrum disorders as a risk factor for adolescent self-harm: a retrospective cohort study of 113,286 young people in the UK. BMC medicine. 2022; 20(1): 137.
BACKGROUND: Individuals with autism spectrum disorder (ASD) are at particularly high risk of suicide and suicide attempts. Presentation to a hospital with self-harm is one of the strongest risk factors for later suicide. We describe the use of a novel data linkage between routinely collected education data and child and adolescent mental health data to examine whether adolescents with ASD are at higher risk than the general population of presenting to emergency care with self-harm. METHODS: A retrospective cohort study was conducted on the population aged 11-17 resident in four South London boroughs between January 2009 and March 2013, attending state secondary schools, identified in the National Pupil Database (NPD). Exposure data on ASD status were derived from the NPD. We used Cox regression to model time to first self-harm presentation to the Emergency Department (ED). RESULTS: One thousand twenty adolescents presented to the ED with self-harm, and 763 matched to the NPD. The sample for analysis included 113,286 adolescents (2.2% with ASD). For boys only, there was an increased risk of self-harm associated with ASD (adjusted hazard ratio 2•79, 95% CI 1•40-5•57, P<0•01). Several other factors including school absence, exclusion from school and having been in foster care were also associated with a higher risk of self-harm. CONCLUSIONS: This study provides evidence that ASD in boys, and other educational, social and clinical factors, are risk factors for emergency presentation with self-harm in adolescents. These findings are an important step in developing early recognition and prevention programmes.