1. Baribeau DA, Vigod SN, Pullenayegum E, Kerns CM, Vaillancourt T, Duku E, Smith IM, Volden J, Zwaigenbaum L, Bennett T, Elsabbagh M, Zaidman-Zait A, Richard AE, Szatmari P. Developmental cascades between insistence on sameness behaviour and anxiety symptoms in autism spectrum disorder. Eur Child Adolesc Psychiatry;2022 (Jul 24)

Autistic children experience high rates of anxiety. Insistence on sameness behaviour (IS) is a core feature of autism that appears correlated with anxiety severity. The objective of this study was to examine the longitudinal relations between anxiety and IS in autistic children using a developmental cascade model. A longitudinal cohort of 421 autistic children was followed between 4 and 11 years of age. Anxiety was quantified using items from the Anxiety Problems subscale of the Child Behavior Checklist; sameness behaviours were measured using the Repetitive Behavior Scale-Revised, Ritualistic/sameness subscale (both parent-report measures). Structural equation modelling was used to examine the longitudinal and directional associations between anxiety and IS at four time-points, through cross-lagged panel models (CLPM) with and without a random-intercepts component (RI-CLPM). Both the CLPM and the RI-CLPM had good fit. Significant directional associations were detected whereby elevated or increasing IS preceded elevated or increasing anxiety symptoms 1-2 years later, respectively. Stable baseline tendencies towards anxiety and IS as between-person traits (intercepts) were strongly associated (standardized estimate = 0.69, p < 0.001). The magnitude of the cross-sectional associations between anxiety and IS appeared to lessen with age. IS and anxiety symptoms in autism are closely related. They appear to be shared traits that mirror each other particularly in younger children. Increasing IS may be a sign of emerging future anxiety. Interventions that target IS to reduce or prevent anxiety amongst school-aged autistic children merit further study.

Lien vers le texte intégral (Open Access ou abonnement)

2. Brian J, Solish A, Dowds E, Roth I, Bernardi K, Perry K, Daoud S, Jilderda S, MacWilliam S, Smith IM, Zwaigenbaum L, Bryson S. Correction to: « Going Mobile »-increasing the reach of parent-mediated intervention for toddlers with ASD via group-based and virtual delivery. J Autism Dev Disord;2022 (Jul 25)

Lien vers le texte intégral (Open Access ou abonnement)

3. Carmine L, Fisher M. Menstrual and reproductive health in female adolescents with developmental disabilities. Curr Probl Pediatr Adolesc Health Care;2022 (Jul 25):101243.

Youth with intellectual and developmental disabilities (I/DD) are impacted by pubertal changes and the onset of menses disproportionately. Despite the fact that for most youth with I/DD, the progression of puberty, menarche, and irregular cycles due to axis immaturity appear to be consistent with the general population, cyclic behavioral changes and premenstrual symptoms may be more common. Furthermore, for some disabled youth there are endocrine or medication effects that may impact menses disproportionately. Education and access to care is essential for this group to address many aspects of treatment, from prepubertal anticipatory guidance to menstrual management, with special attention required for addressing issues concerning hygiene, cyclic pain, behavior changes, sexuality, potential for abuse, and pregnancy prevention.(1-4) This article will provide an overview of the policies and guidance available for management of the menstrual issues encountered in adolescents with intellectual and developmental disabilities and complex medical disorders. Included will be a review of studies that evaluate the different types of methods that are utilized for menstrual management and the different conditions that are encountered.

Lien vers le texte intégral (Open Access ou abonnement)

4. Davis CP, Eigsti IM, Healy R, Joergensen GH, Yee E. Autism-spectrum traits in neurotypicals predict the embodiment of manipulation knowledge about object concepts: Evidence from eyetracking. PLoS One;2022;17(7):e0268069.

Sensorimotor-based theories of cognition predict that even subtle developmental motor differences, such as those characterizing autism spectrum disorder (ASD), impact how we represent the meaning of manipulable objects (e.g., faucet). Here, we test 85 neurotypical participants, who varied widely on the Adult Autism Spectrum Quotient (AQ), a measure intended to capture variability in ASD characteristics in the general adult population (participant scores were all below the clinical threshold for autism). Participants completed a visual world eyetracking task designed to assess the activation of conceptual representations of manipulable objects. Participants heard words referring to manually manipulable objects (e.g., faucet) while we recorded their eye movements to arrays of four objects: the named object, a related object typically manipulated similarly (e.g., jar), and two unrelated objects. Consistent with prior work, we observed more looks to the related object than to the unrelated ones (i.e., a manipulation-relatedness effect). This effect likely reflects the overlapping conceptual representations of objects sharing manipulation characteristics (e.g., faucet and jar), due to embodied sensorimotor properties being part of their representations. Critically, we observed-among typically developed young adults-that as AQ scores increased, manipulation-relatedness effects decreased. In contrast, in a visual control condition, in which a target object was paired with related objects of a similar shape (e.g., snake and rope), relatedness effects increased with AQ scores. The results show that AQ scores can predict variation in how object-concept representations are activated for typically developed individuals. More speculatively, they are consistent with the hypothesis that in individuals with ASD, differences in object-concept representations emerge at least in part via differences in sensorimotor experience.

Lien vers le texte intégral (Open Access ou abonnement)

5. Hernandez-Ruiz E, Lehrer G. « Music Therapy Was Never on the Table »: Perspectives of Parents of Young Autistic Children. J Music Ther;2022 (Jul 25)

Parent coaching of music interventions is emerging as a viable model for families with young autistic children, yet recruitment difficulties have been apparent in previous studies. Understanding parent perspectives of early intervention services is critical to ensure that interventions are acceptable, feasible, and effective for all family members. In order to understand possible parental resistance to this type of parent education, we explored perspectives regarding music therapy, research, and parent coaching in parents of young autistic children. Fourteen parents attended virtual focus groups to discuss their experiences. We used a descriptive phenomenological approach to uncover the essence of their experience. Our findings indicate that, contrary to our preconceptions, participants did not show negative dispositions towards music therapy, research, or parent coaching. Instead, most participants had very little or no knowledge of music therapy services. They had limited experience with research in general, and only two participants had experienced music therapy directly. Several participants had varying amounts of experience with parent participation or parent coaching outside of music therapy and shared positive experiences with it. Parents seemed willing and eager to learn music strategies to support their children and saw value in the use of music for their child’s development. First-contact providers (i.e., early interventionists and diagnosticians) and social media seem influential in parents’ decision-making as they navigate early intervention services soon after diagnosis. Music therapy organizations are encouraged to design targeted efforts to make information on music therapy available through these sources.

Lien vers le texte intégral (Open Access ou abonnement)

6. Klorfeld-Auslender S, Paz Y, Shinder I, Rosenblatt J, Dinstein I, Censor N. A distinct route for efficient learning and generalization in autism. Curr Biol;2022 (Jul 25);32(14):3203-3209 e3203.

Visual skill learning is the process of improving responses to surrounding visual stimuli.(1) For individuals with autism spectrum disorders (ASDs), efficient skill learning may be especially valuable due to potential difficulties with sensory processing(2) and challenges in adjusting flexibly to changing environments.(3)(,)(4) Standard skill learning protocols require extensive practice with multiple stimulus repetitions,(5-7) which may be difficult for individuals with ASD and create abnormally specific learning with poor ability to generalize.(4) Motivated by findings indicating that brief memory reactivations can facilitate skill learning,(8)(,)(9) we hypothesized that reactivation learning with few stimulus repetitions will enable efficient learning in individuals with ASD, similar to their learning with standard extensive practice protocols used in previous studies.(4)(,)(10)(,)(11) We further hypothesized that in contrast to experience-dependent plasticity often resulting in specificity, reactivation-induced learning would enable generalization patterns in ASD. To test our hypotheses, high-functioning adults with ASD underwent brief reactivations of an encoded visual learning task, consisting of only 5 trials each instead of hundreds. Remarkably, individuals with ASD improved their visual discrimination ability in the task substantially, demonstrating successful learning. Furthermore, individuals with ASD generalized learning to an untrained visual location, indicating a unique benefit of reactivation learning mechanisms for ASD individuals. Finally, an additional experiment showed that without memory reactivations ASD subjects did not demonstrate efficient learning and generalization patterns. Taken together, the results provide proof-of-concept evidence supporting a distinct route for efficient visual learning and generalization in ASD, which may be beneficial for skill learning in other sensory and motor domains.

Lien vers le texte intégral (Open Access ou abonnement)

7. Kohli M, Kar AK, Bangalore A, Ap P. Machine learning-based ABA treatment recommendation and personalization for autism spectrum disorder: an exploratory study. Brain Inform;2022 (Jul 25);9(1):16.

Autism spectrum is a brain development condition that impairs an individual’s capacity to communicate socially and manifests through strict routines and obsessive-compulsive behavior. Applied behavior analysis (ABA) is the gold-standard treatment for autism spectrum disorder (ASD). However, as the number of ASD cases increases, there is a substantial shortage of licensed ABA practitioners, limiting the timely formulation, revision, and implementation of treatment plans and goals. Additionally, the subjectivity of the clinician and a lack of data-driven decision-making affect treatment quality. We address these obstacles by applying two machine learning algorithms to recommend and personalize ABA treatment goals for 29 study participants with ASD. The patient similarity and collaborative filtering methods predicted ABA treatment with an average accuracy of 81-84%, with a normalized discounted cumulative gain of 79-81% (NDCG) compared to clinician-prepared ABA treatment recommendations. Additionally, we assess the two models’ treatment efficacy (TE) by measuring the percentage of recommended treatment goals mastered by the study participants. The proposed treatment recommendation and personalization strategy are generalizable to other intervention methods in addition to ABA and for other brain disorders. This study was registered as a clinical trial on November 5, 2020 with trial registration number CTRI/2020/11/028933.

Lien vers le texte intégral (Open Access ou abonnement)

8. Peru A. Calendar calculating or simply memory for dates? Evidence from a young female with autistic spectrum disorder. Acta Neurol Belg;2022 (Jul 25)

Lien vers le texte intégral (Open Access ou abonnement)

9. Piraneh H, Gholami M, Sargeran K, Shamshiri AR. Social Story Based Toothbrushing Education Versus Video-Modeling Based Toothbrushing Training on Oral Hygiene Status Among Male Students Aged 7-15 Years Old with Autism Spectrum Disorders in Tehran, Iran: A Quasi-Randomized Controlled Trial. J Autism Dev Disord;2022 (Jul 24):1-12.

Individuals with autism spectrum disorders (ASD) are at higher risks of developing chronic oral health conditions. This trial compared the efficacy of two tooth-brushing educational interventions on the oral hygiene status {Simplified Oral Hygiene Index (OHI-S)} among 7-15-year-old students with ASD in Tehran. Four schools were divided to intervention (video modeling) and comparison (social story) school groups. The OHI-S of 137 participants had been evaluated at baseline and 133 were analyzed finally after one month. Baseline characteristics were similar between both groups. OHI-S improvement was significantly higher in intervention group. We concluded that tooth-brushing educational intervention using video modeling based on modern technologies would improve oral hygiene status more than traditional social stories (standard education) in individuals with ASD. Trial registration number: IRCT20200208046413N1, Registration date: 2020-07-05.

Lien vers le texte intégral (Open Access ou abonnement)

10. Raja A, Shekhar N, Singh H, Prakash A, Medhi B. In-silico discovery of dual active molecule to restore synaptic wiring against autism spectrum disorder via HDAC2 and H3R inhibition. PLoS One;2022;17(7):e0268139.

Metal-dependent histone deacetylases (HDACs) are essential epigenetic regulators; their molecular and pharmacological roles in medically critical diseases such as neuropsychiatric disorders, neurodegeneration, and cancer are being studied globally. HDAC2’s differential expression in the central nervous system makes it an appealing therapeutic target for chronic neurological diseases like autism spectrum disorder. In this study, we identified H3R inhibitor molecules that are computationally effective at binding to the HDAC2 metal-coordinated binding site. The study highlights the importance of pitolisant in screening the potential H3R inhibitors by using a hybrid workflow of ligand and receptor-based drug discovery. The screened lead compounds with PubChem SIDs 103179850, 103185945, and 103362074 show viable binding with HDAC2 in silico. The importance of ligand contacts with the Zn2+ ion in the HDAC2 catalytic site is also discussed and investigated for a significant role in enzyme inhibition. The proposed H3R inhibitors 103179850, 103185945, and 103362074 are estimated as dual-active molecules to block the HDAC2-mediated deacetylation of the EAAT2 gene (SLC1A2) and H3R-mediated synaptic transmission irregularity and are, therefore, open for experimental validation.

Lien vers le texte intégral (Open Access ou abonnement)

11. Rajcsanyi LS, Diebels I, Pastoors L, Kanber D, Peters T, Volckmar AL, Zheng Y, Grosse M, Dieterich C, Hebebrand J, Kaiser FJ, Horsthemke B, Hinney A. Evidence for correlations between BMI-associated SNPs and circRNAs. Sci Rep;2022 (Jul 25);12(1):12643.

Circular RNAs (circRNAs) are regulators of processes like adipogenesis. Their expression can be modulated by SNPs. We analysed links between BMI-associated SNPs and circRNAs. First, we detected an enrichment of BMI-associated SNPs on circRNA genomic loci in comparison to non-significant variants. Analysis of sex-stratified GWAS data revealed that circRNA genomic loci encompassed more genome-wide significant BMI-SNPs in females than in males. To explore whether the enrichment is restricted to BMI, we investigated nine additional GWAS studies. We showed an enrichment of trait-associated SNPs in circRNAs for four analysed phenotypes (body height, chronic kidney disease, anorexia nervosa and autism spectrum disorder). To analyse the influence of BMI-affecting SNPs on circRNA levels in vitro, we examined rs4752856 located on hsa_circ_0022025. The analysis of heterozygous individuals revealed an increased level of circRNA derived from the BMI-increasing SNP allele. We conclude that genetic variation may affect the BMI partly through circRNAs.

Lien vers le texte intégral (Open Access ou abonnement)

12. Stephenson KG, Fenning RM, Macklin EA, Lu F, Norris M, Steinberg-Epstein R, Butter EM. Child Behavior Problems and Parenting Stress in Underserved Families of Children with ASD: Investigation of Family Resources and Parenting Self-efficacy. J Autism Dev Disord;2022 (Jul 25)

Behavior problems in children with autism spectrum disorder (ASD) may exacerbate parenting stress. Parenting self-efficacy and family resources may influence this association. We examined cross-sectional statistical mediation effects of parenting self-efficacy on the relationship between child behavior problems and parenting stress and hypothesized that family-level resources moderated this indirect effect. Participants included 132 underserved (Medicaid-eligible) children with ASD (ages 3-13) with racial/ethnic diversity; many (63%) had intellectual disability. Greater externalizing problems were linked with lower parenting self-efficacy, which in turn was associated with increased parenting stress. A larger mediation effect was observed for families with fewer resources. A plausible alternative model (parenting stress mediating parenting self-efficacy) exhibited poorer fit. Implications for family supports and benefits of longitudinal follow-up are discussed.

Lien vers le texte intégral (Open Access ou abonnement)